Mutagenetix > Incidental Mutation

Incidental Mutation 'R9291:Pkhd1l1'

704304

Institutional Source

Beutler Lab

Gene Symbol

Pkhd1l1

Ensembl Gene

ENSMUSG00000038725

Gene Name

polycystic kidney and hepatic disease 1-like 1

Synonyms

PKHDL1, D86 mRNA, fibrocystin L

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9291 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

44457494-44601369 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 44569976 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 3417 (N3417K)

Ref Sequence

ENSEMBL: ENSMUSP00000036988 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000038336] [ENSMUST00000166957] [ENSMUST00000209244]

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000038336
AA Change: N3417K

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000036988
Gene: ENSMUSG00000038725
AA Change: N3417K

Domain	Start	End	E-Value	Type
signal peptide	1	20	N/A	INTRINSIC
IPT	30	141	9.02e-3	SMART
Pfam:TIG	146	255	1.6e-16	PFAM
IPT	269	362	2.27e-8	SMART
PbH1	398	420	2.98e3	SMART
IPT	1066	1154	5.34e-5	SMART
IPT	1156	1235	1.44e-1	SMART
Pfam:TIG	1240	1322	1.1e-13	PFAM
IPT	1328	1407	7.06e0	SMART
Pfam:TIG	1565	1645	5.1e-11	PFAM
IPT	1657	1743	1.89e-5	SMART
Pfam:TIG	1748	1828	2.1e-10	PFAM
IPT	1829	1910	4.87e-8	SMART
IPT	1914	1997	6.84e-3	SMART
IPT	1998	2085	9.86e-1	SMART
IPT	2089	2176	7.21e-11	SMART
PbH1	2105	2126	1.56e3	SMART
G8	2183	2303	2.37e-59	SMART
PbH1	2484	2506	9.48e3	SMART
PbH1	2507	2529	8.45e2	SMART
PbH1	2565	2587	4.11e3	SMART
PbH1	2664	2686	3.5e3	SMART
PbH1	2732	2755	2.7e3	SMART
Blast:G8	2949	2979	1e-5	BLAST
low complexity region	3014	3025	N/A	INTRINSIC
G8	3035	3173	6.5e-57	SMART
PbH1	3292	3314	1.96e3	SMART
PbH1	3354	3376	3.79e1	SMART
PbH1	3415	3437	4.87e2	SMART
PbH1	3470	3492	8.34e3	SMART
PbH1	3493	3514	5.86e3	SMART
low complexity region	3563	3574	N/A	INTRINSIC
low complexity region	4076	4103	N/A	INTRINSIC
low complexity region	4184	4212	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000166957
AA Change: N3417K

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000129522
Gene: ENSMUSG00000038725
AA Change: N3417K

Domain	Start	End	E-Value	Type
signal peptide	1	20	N/A	INTRINSIC
IPT	30	141	9.02e-3	SMART
Pfam:TIG	146	255	9.4e-18	PFAM
IPT	269	362	2.27e-8	SMART
PbH1	398	420	2.98e3	SMART
IPT	1066	1154	5.34e-5	SMART
IPT	1156	1235	1.44e-1	SMART
Pfam:TIG	1240	1323	3e-13	PFAM
IPT	1328	1407	7.06e0	SMART
Pfam:TIG	1565	1645	3.7e-11	PFAM
IPT	1657	1743	1.89e-5	SMART
Pfam:TIG	1748	1828	9.7e-12	PFAM
IPT	1829	1910	4.87e-8	SMART
IPT	1914	1997	6.84e-3	SMART
IPT	1998	2085	9.86e-1	SMART
IPT	2089	2176	7.21e-11	SMART
PbH1	2105	2126	1.56e3	SMART
G8	2183	2303	2.37e-59	SMART
PbH1	2484	2506	9.48e3	SMART
PbH1	2507	2529	8.45e2	SMART
PbH1	2565	2587	4.11e3	SMART
PbH1	2664	2686	3.5e3	SMART
PbH1	2732	2755	2.7e3	SMART
Blast:G8	2949	2979	1e-5	BLAST
low complexity region	3014	3025	N/A	INTRINSIC
G8	3035	3173	6.5e-57	SMART
PbH1	3292	3314	1.96e3	SMART
PbH1	3354	3376	3.79e1	SMART
PbH1	3415	3437	4.87e2	SMART
PbH1	3470	3492	8.34e3	SMART
PbH1	3493	3514	5.86e3	SMART
low complexity region	3563	3574	N/A	INTRINSIC
low complexity region	4076	4103	N/A	INTRINSIC
low complexity region	4184	4212	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000209244
AA Change: N3417K

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.2%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110002E22Rik	A	G	3: 138,066,703 (GRCm38)	N551S	probably benign	Het
Abcg5	C	A	17: 84,668,952 (GRCm38)	V486L	probably benign	Het
Acoxl	T	A	2: 127,972,573 (GRCm38)	I303N	probably damaging	Het
Atp6v1h	G	T	1: 5,150,061 (GRCm38)	W464L	probably null	Het
Cdcp2	A	G	4: 107,106,856 (GRCm38)	D301G	probably damaging	Het
Cenpv	T	C	11: 62,538,862 (GRCm38)	D115G	probably benign	Het
Cnfn	T	C	7: 25,368,051 (GRCm38)	D67G	possibly damaging	Het
Col27a1	A	C	4: 63,224,302 (GRCm38)	I76L	probably damaging	Het
Crb2	G	A	2: 37,792,201 (GRCm38)	V865I	probably damaging	Het
Ctf1	T	A	7: 127,717,032 (GRCm38)	L58Q	probably damaging	Het
Dennd6b	C	T	15: 89,187,387 (GRCm38)	V276M	possibly damaging	Het
Dis3l2	A	G	1: 86,973,493 (GRCm38)	T483A	possibly damaging	Het
Dlg5	T	C	14: 24,191,161 (GRCm38)	T223A	probably damaging	Het
Dnah11	C	T	12: 118,027,516 (GRCm38)	E2372K	probably damaging	Het
Dnah8	T	C	17: 30,725,125 (GRCm38)	I1772T	probably damaging	Het
Dscaml1	T	C	9: 45,447,953 (GRCm38)	I170T	probably damaging	Het
Ehd4	G	T	2: 120,091,274 (GRCm38)	D500E	probably damaging	Het
Elac2	T	C	11: 64,992,316 (GRCm38)	I388T	probably damaging	Het
Entpd6	G	A	2: 150,767,039 (GRCm38)	V348M	probably benign	Het
Epg5	T	A	18: 78,012,850 (GRCm38)	C1746*	probably null	Het
Exosc2	G	T	2: 31,670,859 (GRCm38)	M40I	probably benign	Het
Fam193a	T	C	5: 34,436,491 (GRCm38)	Y27H	probably damaging	Het
Gm8005	A	G	14: 42,436,928 (GRCm38)	F148L		Het
Hectd4	T	C	5: 121,348,965 (GRCm38)	V3341A	probably benign	Het
Hecw1	A	G	13: 14,316,937 (GRCm38)	V77A	probably benign	Het
Irf2bp1	T	A	7: 19,004,533 (GRCm38)	C33S	probably damaging	Het
Kank4	A	T	4: 98,778,451 (GRCm38)	H586Q	probably benign	Het
Kcnu1	A	G	8: 25,900,013 (GRCm38)	N619S	probably benign	Het
Kndc1	A	G	7: 139,895,224 (GRCm38)	E13G	possibly damaging	Het
Lrp2	A	T	2: 69,480,035 (GRCm38)	D2731E	probably damaging	Het
Lyst	A	G	13: 13,709,353 (GRCm38)	N2942S	probably benign	Het
Maml3	G	A	3: 51,856,907 (GRCm38)	T212M	probably benign	Het
Mill2	T	C	7: 18,841,491 (GRCm38)	V41A	probably benign	Het
Moxd2	C	A	6: 40,880,428 (GRCm38)	C466F	probably damaging	Het
Nefh	A	G	11: 4,940,871 (GRCm38)	S583P	probably benign	Het
Nlrp9b	T	A	7: 20,024,586 (GRCm38)	S583T	possibly damaging	Het
Nup214	T	G	2: 31,977,794 (GRCm38)	M91R	probably benign	Het
Or4c121	A	C	2: 89,193,794 (GRCm38)	M80R	possibly damaging	Het
Or6c206	T	C	10: 129,261,333 (GRCm38)	I124T	probably damaging	Het
Or8k53	A	T	2: 86,347,424 (GRCm38)	I114N	probably benign	Het
Otud4	A	G	8: 79,646,323 (GRCm38)	Y90C	probably damaging	Het
Papln	C	A	12: 83,778,510 (GRCm38)	T575N	probably benign	Het
Pop7	A	G	5: 137,501,649 (GRCm38)	*141Q	probably null	Het
Pramel26	A	T	4: 143,812,681 (GRCm38)	Y81N	probably benign	Het
Rchy1	A	G	5: 91,951,906 (GRCm38)	L191S	possibly damaging	Het
Rims1	T	C	1: 22,397,522 (GRCm38)	D296G		Het
Sftpb	T	A	6: 72,309,897 (GRCm38)	C261*	probably null	Het
Sgcd	C	T	11: 46,979,339 (GRCm38)	C265Y	probably damaging	Het
Slc44a5	G	A	3: 154,256,581 (GRCm38)	V384M	possibly damaging	Het
Slx4ip	T	A	2: 137,046,796 (GRCm38)	N132K	probably benign	Het
Sspo	C	T	6: 48,496,396 (GRCm38)	T4861M	probably damaging	Het
Swt1	T	A	1: 151,410,943 (GRCm38)	E266V	probably damaging	Het
Tbc1d9	A	G	8: 83,261,121 (GRCm38)	D903G	probably damaging	Het
Tbx18	A	T	9: 87,729,482 (GRCm38)	M165K	probably damaging	Het
Tmem25	T	C	9: 44,795,502 (GRCm38)	N282S	probably damaging	Het
Tom1l2	T	C	11: 60,262,730 (GRCm38)	I140M	probably benign	Het
Trak2	A	G	1: 58,903,899 (GRCm38)	S783P	probably damaging	Het
Trpv4	G	A	5: 114,630,007 (GRCm38)	T534M	probably benign	Het
Ttc6	G	T	12: 57,575,944 (GRCm38)	R43M	probably damaging	Het
Vmn1r194	A	G	13: 22,244,705 (GRCm38)	Y164C	probably benign	Het
Vmn1r228	T	C	17: 20,776,761 (GRCm38)	Y165C	probably benign	Het
Vps13b	C	A	15: 35,846,913 (GRCm38)	T2614K	probably damaging	Het
Zdhhc14	T	C	17: 5,647,962 (GRCm38)	F102S	probably benign	Het
Zyg11b	A	G	4: 108,250,817 (GRCm38)	M464T	probably benign	Het

Other mutations in Pkhd1l1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00233:Pkhd1l1	APN	15	44,477,586 (GRCm38)	missense	probably damaging	1.00
IGL00235:Pkhd1l1	APN	15	44,556,019 (GRCm38)	missense	probably damaging	1.00
IGL00264:Pkhd1l1	APN	15	44,491,029 (GRCm38)	missense	possibly damaging	0.67
IGL00537:Pkhd1l1	APN	15	44,591,992 (GRCm38)	missense	possibly damaging	0.88
IGL00537:Pkhd1l1	APN	15	44,500,047 (GRCm38)	missense	probably benign	0.42
IGL00580:Pkhd1l1	APN	15	44,586,474 (GRCm38)	missense	probably damaging	0.98
IGL01085:Pkhd1l1	APN	15	44,562,752 (GRCm38)	splice site	probably null
IGL01089:Pkhd1l1	APN	15	44,483,869 (GRCm38)	splice site	probably benign
IGL01094:Pkhd1l1	APN	15	44,546,929 (GRCm38)	missense	probably benign	0.09
IGL01120:Pkhd1l1	APN	15	44,505,312 (GRCm38)	critical splice donor site	probably null
IGL01307:Pkhd1l1	APN	15	44,530,029 (GRCm38)	missense	possibly damaging	0.82
IGL01362:Pkhd1l1	APN	15	44,532,982 (GRCm38)	missense	probably benign	0.00
IGL01403:Pkhd1l1	APN	15	44,483,833 (GRCm38)	nonsense	probably null
IGL01546:Pkhd1l1	APN	15	44,566,316 (GRCm38)	missense	probably damaging	1.00
IGL01596:Pkhd1l1	APN	15	44,529,410 (GRCm38)	missense	possibly damaging	0.50
IGL01696:Pkhd1l1	APN	15	44,529,351 (GRCm38)	missense	possibly damaging	0.79
IGL01844:Pkhd1l1	APN	15	44,499,400 (GRCm38)	splice site	probably benign
IGL02007:Pkhd1l1	APN	15	44,533,733 (GRCm38)	splice site	probably benign
IGL02041:Pkhd1l1	APN	15	44,493,056 (GRCm38)	splice site	probably null
IGL02171:Pkhd1l1	APN	15	44,516,146 (GRCm38)	missense	possibly damaging	0.80
IGL02206:Pkhd1l1	APN	15	44,512,849 (GRCm38)	missense	probably benign	0.08
IGL02266:Pkhd1l1	APN	15	44,573,614 (GRCm38)	missense	probably damaging	1.00
IGL02487:Pkhd1l1	APN	15	44,459,426 (GRCm38)	missense	possibly damaging	0.65
IGL02488:Pkhd1l1	APN	15	44,558,597 (GRCm38)	missense	probably benign
IGL02522:Pkhd1l1	APN	15	44,555,902 (GRCm38)	missense	possibly damaging	0.71
IGL02554:Pkhd1l1	APN	15	44,578,500 (GRCm38)	missense	probably damaging	1.00
IGL02566:Pkhd1l1	APN	15	44,526,054 (GRCm38)	splice site	probably null
IGL02602:Pkhd1l1	APN	15	44,557,931 (GRCm38)	missense	probably damaging	1.00
IGL02606:Pkhd1l1	APN	15	44,589,456 (GRCm38)	missense	probably benign	0.00
IGL02623:Pkhd1l1	APN	15	44,584,873 (GRCm38)	missense	probably damaging	1.00
IGL02634:Pkhd1l1	APN	15	44,539,667 (GRCm38)	missense	probably damaging	1.00
IGL02637:Pkhd1l1	APN	15	44,564,324 (GRCm38)	missense	probably damaging	1.00
IGL02651:Pkhd1l1	APN	15	44,483,814 (GRCm38)	missense	probably damaging	1.00
IGL02679:Pkhd1l1	APN	15	44,530,045 (GRCm38)	critical splice donor site	probably null
IGL02684:Pkhd1l1	APN	15	44,516,209 (GRCm38)	critical splice donor site	probably null
IGL02739:Pkhd1l1	APN	15	44,540,950 (GRCm38)	missense	probably benign	0.11
IGL02831:Pkhd1l1	APN	15	44,501,493 (GRCm38)	missense	probably benign	0.18
IGL02839:Pkhd1l1	APN	15	44,529,543 (GRCm38)	missense	probably damaging	0.98
IGL02944:Pkhd1l1	APN	15	44,501,531 (GRCm38)	missense	probably damaging	1.00
IGL02957:Pkhd1l1	APN	15	44,512,908 (GRCm38)	missense	probably damaging	1.00
IGL03001:Pkhd1l1	APN	15	44,558,004 (GRCm38)	missense	probably damaging	1.00
IGL03030:Pkhd1l1	APN	15	44,596,902 (GRCm38)	missense	probably benign	0.41
IGL03030:Pkhd1l1	APN	15	44,591,976 (GRCm38)	missense	probably benign	0.00
IGL03132:Pkhd1l1	APN	15	44,574,617 (GRCm38)	missense	probably damaging	1.00
IGL03194:Pkhd1l1	APN	15	44,518,135 (GRCm38)	missense	probably damaging	1.00
IGL03219:Pkhd1l1	APN	15	44,596,895 (GRCm38)	missense	possibly damaging	0.62
IGL03236:Pkhd1l1	APN	15	44,581,826 (GRCm38)	missense	probably damaging	1.00
IGL03266:Pkhd1l1	APN	15	44,538,952 (GRCm38)	missense	probably damaging	1.00
IGL03276:Pkhd1l1	APN	15	44,594,584 (GRCm38)	missense	possibly damaging	0.77
IGL03284:Pkhd1l1	APN	15	44,547,518 (GRCm38)	splice site	probably benign
IGL03377:Pkhd1l1	APN	15	44,484,351 (GRCm38)	splice site	probably null
R0310_Pkhd1l1_251	UTSW	15	44,522,738 (GRCm38)	splice site	probably benign
R0344_Pkhd1l1_462	UTSW	15	44,597,011 (GRCm38)	missense	probably benign	0.15
R1737_Pkhd1l1_815	UTSW	15	44,547,509 (GRCm38)	critical splice donor site	probably null
R5049_Pkhd1l1_556	UTSW	15	44,457,616 (GRCm38)	missense	probably benign	0.00
K7371:Pkhd1l1	UTSW	15	44,500,067 (GRCm38)	missense	possibly damaging	0.94
K7371:Pkhd1l1	UTSW	15	44,537,442 (GRCm38)	missense	possibly damaging	0.67
N/A - 287:Pkhd1l1	UTSW	15	44,582,258 (GRCm38)	missense	probably damaging	0.98
P4717OSA:Pkhd1l1	UTSW	15	44,528,247 (GRCm38)	missense	probably damaging	1.00
P4717OSA:Pkhd1l1	UTSW	15	44,523,499 (GRCm38)	missense	probably benign	0.17
R0007:Pkhd1l1	UTSW	15	44,574,398 (GRCm38)	splice site	probably benign
R0020:Pkhd1l1	UTSW	15	44,556,872 (GRCm38)	missense	probably damaging	1.00
R0034:Pkhd1l1	UTSW	15	44,504,009 (GRCm38)	missense	probably benign	0.00
R0040:Pkhd1l1	UTSW	15	44,573,625 (GRCm38)	missense	probably damaging	1.00
R0050:Pkhd1l1	UTSW	15	44,573,807 (GRCm38)	missense	possibly damaging	0.79
R0050:Pkhd1l1	UTSW	15	44,573,807 (GRCm38)	missense	possibly damaging	0.79
R0063:Pkhd1l1	UTSW	15	44,529,237 (GRCm38)	missense	probably damaging	1.00
R0063:Pkhd1l1	UTSW	15	44,529,237 (GRCm38)	missense	probably damaging	1.00
R0086:Pkhd1l1	UTSW	15	44,556,008 (GRCm38)	missense	possibly damaging	0.94
R0103:Pkhd1l1	UTSW	15	44,597,141 (GRCm38)	missense	probably benign
R0103:Pkhd1l1	UTSW	15	44,597,141 (GRCm38)	missense	probably benign
R0127:Pkhd1l1	UTSW	15	44,554,605 (GRCm38)	missense	probably damaging	0.99
R0226:Pkhd1l1	UTSW	15	44,526,784 (GRCm38)	missense	possibly damaging	0.65
R0268:Pkhd1l1	UTSW	15	44,597,011 (GRCm38)	missense	probably benign	0.15
R0294:Pkhd1l1	UTSW	15	44,560,435 (GRCm38)	missense	probably benign	0.05
R0310:Pkhd1l1	UTSW	15	44,522,738 (GRCm38)	splice site	probably benign
R0344:Pkhd1l1	UTSW	15	44,597,011 (GRCm38)	missense	probably benign	0.15
R0449:Pkhd1l1	UTSW	15	44,501,519 (GRCm38)	missense	probably damaging	1.00
R0492:Pkhd1l1	UTSW	15	44,519,690 (GRCm38)	missense	probably benign	0.03
R0505:Pkhd1l1	UTSW	15	44,589,418 (GRCm38)	missense	probably damaging	1.00
R0529:Pkhd1l1	UTSW	15	44,526,754 (GRCm38)	missense	possibly damaging	0.62
R0543:Pkhd1l1	UTSW	15	44,523,491 (GRCm38)	critical splice acceptor site	probably null
R0552:Pkhd1l1	UTSW	15	44,489,546 (GRCm38)	missense	probably damaging	0.98
R0558:Pkhd1l1	UTSW	15	44,484,424 (GRCm38)	missense	probably damaging	0.97
R0609:Pkhd1l1	UTSW	15	44,467,424 (GRCm38)	missense	possibly damaging	0.48
R0619:Pkhd1l1	UTSW	15	44,483,838 (GRCm38)	missense	probably damaging	1.00
R0727:Pkhd1l1	UTSW	15	44,535,788 (GRCm38)	missense	possibly damaging	0.80
R0787:Pkhd1l1	UTSW	15	44,529,264 (GRCm38)	missense	probably damaging	1.00
R0846:Pkhd1l1	UTSW	15	44,495,597 (GRCm38)	missense	probably damaging	1.00
R0909:Pkhd1l1	UTSW	15	44,538,883 (GRCm38)	splice site	probably null
R0942:Pkhd1l1	UTSW	15	44,532,959 (GRCm38)	missense	probably benign	0.01
R1056:Pkhd1l1	UTSW	15	44,591,964 (GRCm38)	missense	probably damaging	1.00
R1147:Pkhd1l1	UTSW	15	44,537,441 (GRCm38)	missense	probably null	0.15
R1147:Pkhd1l1	UTSW	15	44,537,441 (GRCm38)	missense	probably null	0.15
R1187:Pkhd1l1	UTSW	15	44,498,051 (GRCm38)	missense	possibly damaging	0.65
R1328:Pkhd1l1	UTSW	15	44,497,996 (GRCm38)	missense	probably benign	0.01
R1331:Pkhd1l1	UTSW	15	44,589,597 (GRCm38)	missense	probably damaging	1.00
R1331:Pkhd1l1	UTSW	15	44,505,547 (GRCm38)	missense	probably damaging	1.00
R1332:Pkhd1l1	UTSW	15	44,505,547 (GRCm38)	missense	probably damaging	1.00
R1335:Pkhd1l1	UTSW	15	44,505,547 (GRCm38)	missense	probably damaging	1.00
R1338:Pkhd1l1	UTSW	15	44,526,724 (GRCm38)	missense	probably damaging	1.00
R1440:Pkhd1l1	UTSW	15	44,540,988 (GRCm38)	splice site	probably benign
R1445:Pkhd1l1	UTSW	15	44,505,644 (GRCm38)	missense	probably benign	0.32
R1458:Pkhd1l1	UTSW	15	44,516,115 (GRCm38)	missense	probably benign	0.01
R1469:Pkhd1l1	UTSW	15	44,536,886 (GRCm38)	missense	probably benign	0.45
R1469:Pkhd1l1	UTSW	15	44,536,886 (GRCm38)	missense	probably benign	0.45
R1500:Pkhd1l1	UTSW	15	44,545,494 (GRCm38)	missense	probably damaging	1.00
R1528:Pkhd1l1	UTSW	15	44,526,724 (GRCm38)	missense	probably damaging	1.00
R1542:Pkhd1l1	UTSW	15	44,528,191 (GRCm38)	missense	probably benign	0.44
R1568:Pkhd1l1	UTSW	15	44,545,501 (GRCm38)	splice site	probably null
R1571:Pkhd1l1	UTSW	15	44,526,841 (GRCm38)	missense	probably benign
R1572:Pkhd1l1	UTSW	15	44,543,473 (GRCm38)	missense	probably benign	0.01
R1604:Pkhd1l1	UTSW	15	44,467,367 (GRCm38)	nonsense	probably null
R1638:Pkhd1l1	UTSW	15	44,597,117 (GRCm38)	missense	probably benign	0.06
R1639:Pkhd1l1	UTSW	15	44,540,955 (GRCm38)	missense	probably damaging	0.99
R1737:Pkhd1l1	UTSW	15	44,547,509 (GRCm38)	critical splice donor site	probably null
R1816:Pkhd1l1	UTSW	15	44,528,239 (GRCm38)	missense	possibly damaging	0.91
R1826:Pkhd1l1	UTSW	15	44,503,345 (GRCm38)	missense	possibly damaging	0.75
R1880:Pkhd1l1	UTSW	15	44,525,242 (GRCm38)	missense	probably benign	0.13
R1930:Pkhd1l1	UTSW	15	44,503,337 (GRCm38)	missense	possibly damaging	0.69
R1933:Pkhd1l1	UTSW	15	44,540,884 (GRCm38)	missense	possibly damaging	0.48
R1938:Pkhd1l1	UTSW	15	44,500,038 (GRCm38)	missense	probably benign
R1975:Pkhd1l1	UTSW	15	44,529,713 (GRCm38)	missense	probably damaging	1.00
R1999:Pkhd1l1	UTSW	15	44,499,982 (GRCm38)	splice site	probably null
R2037:Pkhd1l1	UTSW	15	44,568,221 (GRCm38)	splice site	probably null
R2045:Pkhd1l1	UTSW	15	44,479,654 (GRCm38)	missense	probably damaging	1.00
R2049:Pkhd1l1	UTSW	15	44,581,741 (GRCm38)	missense	probably damaging	1.00
R2049:Pkhd1l1	UTSW	15	44,547,513 (GRCm38)	splice site	probably benign
R2063:Pkhd1l1	UTSW	15	44,550,752 (GRCm38)	missense	possibly damaging	0.69
R2072:Pkhd1l1	UTSW	15	44,558,639 (GRCm38)	missense	probably damaging	1.00
R2073:Pkhd1l1	UTSW	15	44,558,639 (GRCm38)	missense	probably damaging	1.00
R2075:Pkhd1l1	UTSW	15	44,558,639 (GRCm38)	missense	probably damaging	1.00
R2078:Pkhd1l1	UTSW	15	44,527,767 (GRCm38)	missense	probably benign	0.08
R2116:Pkhd1l1	UTSW	15	44,569,482 (GRCm38)	missense	probably damaging	0.97
R2133:Pkhd1l1	UTSW	15	44,516,185 (GRCm38)	missense	possibly damaging	0.91
R2138:Pkhd1l1	UTSW	15	44,501,457 (GRCm38)	missense	probably damaging	1.00
R2139:Pkhd1l1	UTSW	15	44,529,818 (GRCm38)	missense	possibly damaging	0.46
R2145:Pkhd1l1	UTSW	15	44,512,877 (GRCm38)	splice site	probably null
R2150:Pkhd1l1	UTSW	15	44,499,982 (GRCm38)	splice site	probably null
R2177:Pkhd1l1	UTSW	15	44,459,395 (GRCm38)	missense	probably benign
R2184:Pkhd1l1	UTSW	15	44,499,296 (GRCm38)	missense	possibly damaging	0.89
R2216:Pkhd1l1	UTSW	15	44,573,895 (GRCm38)	missense	probably damaging	1.00
R2226:Pkhd1l1	UTSW	15	44,512,792 (GRCm38)	missense	possibly damaging	0.79
R2227:Pkhd1l1	UTSW	15	44,512,792 (GRCm38)	missense	possibly damaging	0.79
R2243:Pkhd1l1	UTSW	15	44,546,927 (GRCm38)	missense	probably damaging	1.00
R2290:Pkhd1l1	UTSW	15	44,528,250 (GRCm38)	missense	probably benign	0.03
R2294:Pkhd1l1	UTSW	15	44,479,607 (GRCm38)	missense	probably damaging	0.99
R2346:Pkhd1l1	UTSW	15	44,560,506 (GRCm38)	missense	possibly damaging	0.82
R2356:Pkhd1l1	UTSW	15	44,533,019 (GRCm38)	missense	probably benign	0.00
R2386:Pkhd1l1	UTSW	15	44,528,178 (GRCm38)	missense	probably benign	0.00
R2404:Pkhd1l1	UTSW	15	44,550,820 (GRCm38)	missense	probably damaging	1.00
R2504:Pkhd1l1	UTSW	15	44,485,428 (GRCm38)	missense	probably damaging	0.97
R2679:Pkhd1l1	UTSW	15	44,545,386 (GRCm38)	missense	probably damaging	0.99
R2860:Pkhd1l1	UTSW	15	44,540,871 (GRCm38)	missense	probably damaging	1.00
R2861:Pkhd1l1	UTSW	15	44,540,871 (GRCm38)	missense	probably damaging	1.00
R2862:Pkhd1l1	UTSW	15	44,540,871 (GRCm38)	missense	probably damaging	1.00
R2972:Pkhd1l1	UTSW	15	44,547,248 (GRCm38)	missense	possibly damaging	0.65
R3016:Pkhd1l1	UTSW	15	44,545,370 (GRCm38)	missense	probably benign	0.02
R3162:Pkhd1l1	UTSW	15	44,505,528 (GRCm38)	missense	probably damaging	1.00
R3162:Pkhd1l1	UTSW	15	44,505,528 (GRCm38)	missense	probably damaging	1.00
R3416:Pkhd1l1	UTSW	15	44,547,364 (GRCm38)	missense	probably damaging	1.00
R3623:Pkhd1l1	UTSW	15	44,526,869 (GRCm38)	missense	probably damaging	1.00
R3687:Pkhd1l1	UTSW	15	44,546,587 (GRCm38)	missense	probably benign	0.17
R3755:Pkhd1l1	UTSW	15	44,589,406 (GRCm38)	missense	probably damaging	1.00
R3776:Pkhd1l1	UTSW	15	44,514,975 (GRCm38)	critical splice donor site	probably null
R3803:Pkhd1l1	UTSW	15	44,493,135 (GRCm38)	missense	probably benign	0.25
R3942:Pkhd1l1	UTSW	15	44,592,026 (GRCm38)	critical splice donor site	probably null
R4010:Pkhd1l1	UTSW	15	44,529,100 (GRCm38)	missense	possibly damaging	0.80
R4049:Pkhd1l1	UTSW	15	44,498,557 (GRCm38)	missense	probably damaging	1.00
R4059:Pkhd1l1	UTSW	15	44,550,760 (GRCm38)	missense	probably benign	0.01
R4179:Pkhd1l1	UTSW	15	44,523,649 (GRCm38)	missense	probably benign	0.45
R4184:Pkhd1l1	UTSW	15	44,591,906 (GRCm38)	missense	probably benign	0.00
R4369:Pkhd1l1	UTSW	15	44,505,553 (GRCm38)	missense	probably benign	0.00
R4462:Pkhd1l1	UTSW	15	44,581,804 (GRCm38)	missense	probably damaging	1.00
R4551:Pkhd1l1	UTSW	15	44,550,885 (GRCm38)	missense	probably damaging	1.00
R4618:Pkhd1l1	UTSW	15	44,539,682 (GRCm38)	missense	probably damaging	1.00
R4632:Pkhd1l1	UTSW	15	44,484,400 (GRCm38)	missense	probably benign	0.07
R4657:Pkhd1l1	UTSW	15	44,547,347 (GRCm38)	missense	probably damaging	1.00
R4716:Pkhd1l1	UTSW	15	44,556,032 (GRCm38)	missense	probably damaging	1.00
R4788:Pkhd1l1	UTSW	15	44,498,021 (GRCm38)	missense	probably damaging	0.99
R4828:Pkhd1l1	UTSW	15	44,529,405 (GRCm38)	missense	possibly damaging	0.55
R4858:Pkhd1l1	UTSW	15	44,491,101 (GRCm38)	missense	probably damaging	0.99
R4860:Pkhd1l1	UTSW	15	44,537,378 (GRCm38)	missense	possibly damaging	0.77
R4860:Pkhd1l1	UTSW	15	44,537,378 (GRCm38)	missense	possibly damaging	0.77
R4951:Pkhd1l1	UTSW	15	44,533,891 (GRCm38)	missense	possibly damaging	0.82
R4963:Pkhd1l1	UTSW	15	44,504,025 (GRCm38)	missense	probably benign	0.00
R5023:Pkhd1l1	UTSW	15	44,528,191 (GRCm38)	missense	probably benign	0.44
R5023:Pkhd1l1	UTSW	15	44,582,227 (GRCm38)	missense	probably benign	0.00
R5035:Pkhd1l1	UTSW	15	44,568,324 (GRCm38)	missense	probably damaging	1.00
R5049:Pkhd1l1	UTSW	15	44,457,616 (GRCm38)	missense	probably benign	0.00
R5065:Pkhd1l1	UTSW	15	44,582,293 (GRCm38)	missense	possibly damaging	0.68
R5089:Pkhd1l1	UTSW	15	44,591,887 (GRCm38)	missense	probably benign	0.01
R5151:Pkhd1l1	UTSW	15	44,505,309 (GRCm38)	missense	probably benign	0.00
R5153:Pkhd1l1	UTSW	15	44,505,309 (GRCm38)	missense	probably benign	0.00
R5189:Pkhd1l1	UTSW	15	44,547,148 (GRCm38)	missense	probably damaging	1.00
R5204:Pkhd1l1	UTSW	15	44,547,041 (GRCm38)	missense	possibly damaging	0.51
R5216:Pkhd1l1	UTSW	15	44,495,647 (GRCm38)	nonsense	probably null
R5286:Pkhd1l1	UTSW	15	44,514,972 (GRCm38)	nonsense	probably null
R5292:Pkhd1l1	UTSW	15	44,529,566 (GRCm38)	missense	probably damaging	1.00
R5293:Pkhd1l1	UTSW	15	44,535,750 (GRCm38)	missense	probably benign	0.01
R5298:Pkhd1l1	UTSW	15	44,504,046 (GRCm38)	missense	probably benign	0.00
R5327:Pkhd1l1	UTSW	15	44,546,862 (GRCm38)	missense	probably damaging	1.00
R5346:Pkhd1l1	UTSW	15	44,540,967 (GRCm38)	missense	probably damaging	1.00
R5481:Pkhd1l1	UTSW	15	44,558,646 (GRCm38)	missense	probably damaging	1.00
R5645:Pkhd1l1	UTSW	15	44,532,992 (GRCm38)	missense	probably benign	0.18
R5718:Pkhd1l1	UTSW	15	44,545,417 (GRCm38)	missense	probably damaging	1.00
R5809:Pkhd1l1	UTSW	15	44,519,707 (GRCm38)	missense	probably benign	0.03
R5816:Pkhd1l1	UTSW	15	44,566,322 (GRCm38)	missense	probably benign	0.01
R5854:Pkhd1l1	UTSW	15	44,581,790 (GRCm38)	missense	probably damaging	1.00
R5876:Pkhd1l1	UTSW	15	44,578,588 (GRCm38)	missense	possibly damaging	0.51
R5909:Pkhd1l1	UTSW	15	44,526,763 (GRCm38)	missense	probably damaging	1.00
R5950:Pkhd1l1	UTSW	15	44,532,965 (GRCm38)	missense	probably benign	0.00
R5961:Pkhd1l1	UTSW	15	44,459,463 (GRCm38)	missense	probably damaging	1.00
R5972:Pkhd1l1	UTSW	15	44,545,416 (GRCm38)	missense	probably damaging	1.00
R5975:Pkhd1l1	UTSW	15	44,525,988 (GRCm38)	missense	probably damaging	1.00
R5982:Pkhd1l1	UTSW	15	44,489,504 (GRCm38)	splice site	probably null
R6066:Pkhd1l1	UTSW	15	44,528,129 (GRCm38)	missense	probably damaging	0.99
R6122:Pkhd1l1	UTSW	15	44,557,940 (GRCm38)	missense	probably damaging	1.00
R6248:Pkhd1l1	UTSW	15	44,529,559 (GRCm38)	missense	probably benign
R6294:Pkhd1l1	UTSW	15	44,570,028 (GRCm38)	missense	probably damaging	1.00
R6301:Pkhd1l1	UTSW	15	44,589,525 (GRCm38)	missense	probably damaging	0.99
R6526:Pkhd1l1	UTSW	15	44,498,089 (GRCm38)	critical splice donor site	probably null
R6707:Pkhd1l1	UTSW	15	44,529,143 (GRCm38)	missense	probably benign
R6736:Pkhd1l1	UTSW	15	44,557,940 (GRCm38)	missense	probably damaging	1.00
R6753:Pkhd1l1	UTSW	15	44,589,663 (GRCm38)	missense	probably benign	0.45
R6815:Pkhd1l1	UTSW	15	44,562,655 (GRCm38)	missense	probably damaging	1.00
R6874:Pkhd1l1	UTSW	15	44,589,527 (GRCm38)	missense	probably benign	0.06
R6942:Pkhd1l1	UTSW	15	44,522,629 (GRCm38)	missense	probably damaging	1.00
R6970:Pkhd1l1	UTSW	15	44,511,674 (GRCm38)	missense	possibly damaging	0.61
R6982:Pkhd1l1	UTSW	15	44,566,268 (GRCm38)	missense	probably damaging	0.97
R7103:Pkhd1l1	UTSW	15	44,573,631 (GRCm38)	missense	probably benign	0.02
R7116:Pkhd1l1	UTSW	15	44,557,976 (GRCm38)	missense	probably benign	0.00
R7135:Pkhd1l1	UTSW	15	44,584,978 (GRCm38)	critical splice donor site	probably null
R7143:Pkhd1l1	UTSW	15	44,573,637 (GRCm38)	missense	possibly damaging	0.93
R7177:Pkhd1l1	UTSW	15	44,467,404 (GRCm38)	missense	probably damaging	1.00
R7194:Pkhd1l1	UTSW	15	44,529,116 (GRCm38)	missense	probably damaging	1.00
R7204:Pkhd1l1	UTSW	15	44,523,553 (GRCm38)	missense	possibly damaging	0.90
R7215:Pkhd1l1	UTSW	15	44,528,163 (GRCm38)	missense	possibly damaging	0.78
R7218:Pkhd1l1	UTSW	15	44,522,695 (GRCm38)	missense	possibly damaging	0.49
R7225:Pkhd1l1	UTSW	15	44,546,941 (GRCm38)	missense	probably damaging	1.00
R7283:Pkhd1l1	UTSW	15	44,503,280 (GRCm38)	missense	probably benign	0.10
R7292:Pkhd1l1	UTSW	15	44,498,590 (GRCm38)	missense	probably benign
R7304:Pkhd1l1	UTSW	15	44,498,482 (GRCm38)	missense	possibly damaging	0.94
R7349:Pkhd1l1	UTSW	15	44,514,954 (GRCm38)	missense	probably damaging	1.00
R7359:Pkhd1l1	UTSW	15	44,589,486 (GRCm38)	missense	probably damaging	1.00
R7407:Pkhd1l1	UTSW	15	44,595,011 (GRCm38)	missense	possibly damaging	0.75
R7475:Pkhd1l1	UTSW	15	44,505,185 (GRCm38)	nonsense	probably null
R7481:Pkhd1l1	UTSW	15	44,512,911 (GRCm38)	missense	probably benign
R7554:Pkhd1l1	UTSW	15	44,495,470 (GRCm38)	missense	probably damaging	1.00
R7555:Pkhd1l1	UTSW	15	44,550,761 (GRCm38)	missense	possibly damaging	0.51
R7562:Pkhd1l1	UTSW	15	44,514,930 (GRCm38)	missense	possibly damaging	0.68
R7583:Pkhd1l1	UTSW	15	44,568,364 (GRCm38)	critical splice donor site	probably null
R7595:Pkhd1l1	UTSW	15	44,495,521 (GRCm38)	missense	probably damaging	1.00
R7749:Pkhd1l1	UTSW	15	44,527,737 (GRCm38)	missense	probably benign	0.00
R7754:Pkhd1l1	UTSW	15	44,586,408 (GRCm38)	missense	possibly damaging	0.94
R7761:Pkhd1l1	UTSW	15	44,529,884 (GRCm38)	missense	probably benign	0.00
R7774:Pkhd1l1	UTSW	15	44,540,907 (GRCm38)	missense	probably benign	0.03
R7785:Pkhd1l1	UTSW	15	44,543,569 (GRCm38)	missense	probably damaging	1.00
R7790:Pkhd1l1	UTSW	15	44,578,581 (GRCm38)	missense	probably damaging	1.00
R7804:Pkhd1l1	UTSW	15	44,597,138 (GRCm38)	nonsense	probably null
R7864:Pkhd1l1	UTSW	15	44,526,053 (GRCm38)	critical splice donor site	probably null
R7883:Pkhd1l1	UTSW	15	44,529,126 (GRCm38)	missense	probably damaging	1.00
R8031:Pkhd1l1	UTSW	15	44,512,834 (GRCm38)	missense	probably damaging	1.00
R8128:Pkhd1l1	UTSW	15	44,498,053 (GRCm38)	missense	possibly damaging	0.94
R8142:Pkhd1l1	UTSW	15	44,514,931 (GRCm38)	missense	probably benign	0.00
R8150:Pkhd1l1	UTSW	15	44,546,659 (GRCm38)	missense	possibly damaging	0.68
R8209:Pkhd1l1	UTSW	15	44,574,407 (GRCm38)	missense	possibly damaging	0.46
R8212:Pkhd1l1	UTSW	15	44,499,300 (GRCm38)	missense	probably benign	0.12
R8226:Pkhd1l1	UTSW	15	44,574,407 (GRCm38)	missense	possibly damaging	0.46
R8248:Pkhd1l1	UTSW	15	44,543,546 (GRCm38)	missense	probably damaging	0.99
R8299:Pkhd1l1	UTSW	15	44,581,934 (GRCm38)	missense	probably benign	0.26
R8425:Pkhd1l1	UTSW	15	44,574,515 (GRCm38)	missense	probably benign	0.01
R8485:Pkhd1l1	UTSW	15	44,560,400 (GRCm38)	missense	probably damaging	0.98
R8486:Pkhd1l1	UTSW	15	44,547,416 (GRCm38)	missense	probably damaging	1.00
R8701:Pkhd1l1	UTSW	15	44,574,683 (GRCm38)	missense	probably damaging	1.00
R8709:Pkhd1l1	UTSW	15	44,518,174 (GRCm38)	missense	probably benign	0.01
R8777:Pkhd1l1	UTSW	15	44,498,571 (GRCm38)	missense	probably damaging	1.00
R8777-TAIL:Pkhd1l1	UTSW	15	44,498,571 (GRCm38)	missense	probably damaging	1.00
R8845:Pkhd1l1	UTSW	15	44,505,254 (GRCm38)	missense	probably benign	0.30
R8846:Pkhd1l1	UTSW	15	44,546,962 (GRCm38)	nonsense	probably null
R8863:Pkhd1l1	UTSW	15	44,569,986 (GRCm38)	nonsense	probably null
R8917:Pkhd1l1	UTSW	15	44,533,007 (GRCm38)	missense	probably benign	0.04
R8936:Pkhd1l1	UTSW	15	44,538,916 (GRCm38)	missense	possibly damaging	0.94
R8962:Pkhd1l1	UTSW	15	44,536,895 (GRCm38)	missense	probably damaging	1.00
R8971:Pkhd1l1	UTSW	15	44,529,519 (GRCm38)	missense	possibly damaging	0.68
R8973:Pkhd1l1	UTSW	15	44,586,437 (GRCm38)	missense	probably damaging	1.00
R8982:Pkhd1l1	UTSW	15	44,523,673 (GRCm38)	nonsense	probably null
R8994:Pkhd1l1	UTSW	15	44,547,103 (GRCm38)	missense	probably damaging	0.99
R9004:Pkhd1l1	UTSW	15	44,543,372 (GRCm38)	missense	probably benign	0.16
R9064:Pkhd1l1	UTSW	15	44,562,642 (GRCm38)	missense	possibly damaging	0.93
R9173:Pkhd1l1	UTSW	15	44,520,756 (GRCm38)	missense	probably benign	0.09
R9185:Pkhd1l1	UTSW	15	44,589,623 (GRCm38)	missense	probably benign	0.01
R9213:Pkhd1l1	UTSW	15	44,495,478 (GRCm38)	missense	probably damaging	1.00
R9218:Pkhd1l1	UTSW	15	44,520,726 (GRCm38)	missense	possibly damaging	0.90
R9256:Pkhd1l1	UTSW	15	44,533,894 (GRCm38)	critical splice donor site	probably null
R9309:Pkhd1l1	UTSW	15	44,536,893 (GRCm38)	missense	probably benign	0.00
R9319:Pkhd1l1	UTSW	15	44,529,578 (GRCm38)	missense	possibly damaging	0.46
R9339:Pkhd1l1	UTSW	15	44,589,553 (GRCm38)	missense	probably damaging	1.00
R9366:Pkhd1l1	UTSW	15	44,546,912 (GRCm38)	missense	probably benign	0.03
R9444:Pkhd1l1	UTSW	15	44,554,657 (GRCm38)	missense	probably benign	0.00
R9464:Pkhd1l1	UTSW	15	44,479,613 (GRCm38)	missense	probably damaging	1.00
R9525:Pkhd1l1	UTSW	15	44,584,926 (GRCm38)	missense	possibly damaging	0.88
R9542:Pkhd1l1	UTSW	15	44,546,888 (GRCm38)	missense	probably benign	0.12
R9544:Pkhd1l1	UTSW	15	44,546,843 (GRCm38)	missense	probably damaging	1.00
R9608:Pkhd1l1	UTSW	15	44,578,633 (GRCm38)	missense	possibly damaging	0.65
R9673:Pkhd1l1	UTSW	15	44,523,505 (GRCm38)	missense	probably benign	0.22
R9771:Pkhd1l1	UTSW	15	44,495,487 (GRCm38)	missense	probably benign
R9792:Pkhd1l1	UTSW	15	44,543,587 (GRCm38)	missense	probably benign	0.00
R9793:Pkhd1l1	UTSW	15	44,543,587 (GRCm38)	missense	probably benign	0.00
R9795:Pkhd1l1	UTSW	15	44,543,587 (GRCm38)	missense	probably benign	0.00
RF006:Pkhd1l1	UTSW	15	44,558,507 (GRCm38)	critical splice acceptor site	probably benign
RF006:Pkhd1l1	UTSW	15	44,503,238 (GRCm38)	missense	probably benign	0.03
RF008:Pkhd1l1	UTSW	15	44,558,505 (GRCm38)	critical splice acceptor site	probably benign
RF012:Pkhd1l1	UTSW	15	44,558,505 (GRCm38)	critical splice acceptor site	probably benign
RF019:Pkhd1l1	UTSW	15	44,558,507 (GRCm38)	critical splice acceptor site	probably benign
RF030:Pkhd1l1	UTSW	15	44,558,502 (GRCm38)	critical splice acceptor site	probably benign
RF033:Pkhd1l1	UTSW	15	44,558,506 (GRCm38)	critical splice acceptor site	probably benign
RF038:Pkhd1l1	UTSW	15	44,558,503 (GRCm38)	critical splice acceptor site	probably benign
RF046:Pkhd1l1	UTSW	15	44,558,495 (GRCm38)	critical splice acceptor site	probably benign
X0027:Pkhd1l1	UTSW	15	44,591,966 (GRCm38)	missense	probably damaging	0.99
Z1177:Pkhd1l1	UTSW	15	44,578,578 (GRCm38)	missense	probably damaging	0.99
Z1177:Pkhd1l1	UTSW	15	44,573,576 (GRCm38)	missense	probably damaging	0.97

Predicted Primers

PCR Primer
(F):5'- AGCACAGAGTACAATTTCAAGC -3'
(R):5'- TCATGTCCCTTGTGTTAGGC -3'

Sequencing Primer
(F):5'- GAGTACAATTTCAAGCAACTCAAAGG -3'
(R):5'- CCCTTGTGTTAGGCTTTAAAAGGAG -3'

Posted On

2022-03-25