Mutagenetix > Incidental Mutation

Incidental Mutation 'R0787:Pkhd1l1'

76924

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

038967-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0787 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

44457494-44601369 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 44529264 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Proline to Glutamine at position 1665 (P1665Q)

Ref Sequence

ENSEMBL: ENSMUSP00000147447 (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: P1665Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000036988
Gene: ENSMUSG00000038725
AA Change: P1665Q

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: P1665Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000129522
Gene: ENSMUSG00000038725
AA Change: P1665Q

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: P1665Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000231867

Meta Mutation Damage Score

0.6704

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 96.9%
20x: 93.4%

Validation Efficiency

100% (56/56)

Allele List at MGI

Other mutations in this stock

Total: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
0610037L13Rik	T	A	4: 107,890,129 (GRCm38)	L6Q	probably damaging	Het
1700001F09Rik	A	T	14: 43,345,493 (GRCm38)		probably null	Het
Abca8a	T	A	11: 110,042,988 (GRCm38)	Y1197F	possibly damaging	Het
Abcc2	T	C	19: 43,798,516 (GRCm38)		probably null	Het
Adamts16	A	T	13: 70,738,829 (GRCm38)	C979S	probably damaging	Het
Agap2	T	A	10: 127,085,150 (GRCm38)	D523E	unknown	Het
Ankfy1	T	A	11: 72,760,296 (GRCm38)	I1024N	probably damaging	Het
Ankrd13c	A	G	3: 157,994,678 (GRCm38)	S379G	probably null	Het
Arhgap40	T	C	2: 158,547,790 (GRCm38)	S625P	probably benign	Het
Armc12	G	C	17: 28,538,766 (GRCm38)	A291P	probably damaging	Het
Armc9	A	G	1: 86,202,505 (GRCm38)	N524D	probably damaging	Het
Col12a1	G	T	9: 79,638,485 (GRCm38)	T2305K	probably damaging	Het
Cyp2c54	T	C	19: 40,047,635 (GRCm38)	N277S	probably benign	Het
E130311K13Rik	A	T	3: 63,920,298 (GRCm38)	V129E	probably benign	Het
Ehbp1l1	T	C	19: 5,722,668 (GRCm38)	D79G	possibly damaging	Het
Epb41l1	A	G	2: 156,494,090 (GRCm38)	E58G	probably damaging	Het
Fam217b	T	A	2: 178,420,909 (GRCm38)	V222E	probably benign	Het
Fat1	T	A	8: 45,040,555 (GRCm38)	Y3913N	probably damaging	Het
Fgd4	A	G	16: 16,423,901 (GRCm38)		probably benign	Het
Hltf	A	T	3: 20,106,446 (GRCm38)	D759V	probably damaging	Het
Hsp90ab1	ACTTCTT	ACTT	17: 45,569,499 (GRCm38)		probably benign	Het
Isg15	C	T	4: 156,199,939 (GRCm38)	R44H	probably benign	Het
Itga4	C	T	2: 79,279,153 (GRCm38)	T232I	probably benign	Het
Kntc1	C	A	5: 123,796,104 (GRCm38)	H1399Q	probably benign	Het
Lig1	A	C	7: 13,299,069 (GRCm38)	K499Q	probably benign	Het
Lrrn3	C	A	12: 41,454,231 (GRCm38)	C29F	probably damaging	Het
Mtmr10	T	C	7: 64,300,615 (GRCm38)	I136T	possibly damaging	Het
Naip1	A	G	13: 100,426,096 (GRCm38)	Y854H	probably benign	Het
Olfr770	T	C	10: 129,133,526 (GRCm38)	N81D	possibly damaging	Het
Pcdh9	G	A	14: 93,886,757 (GRCm38)	A659V	possibly damaging	Het
Phf20l1	T	A	15: 66,615,630 (GRCm38)		probably benign	Het
Phgdh	A	G	3: 98,334,549 (GRCm38)	V83A	probably damaging	Het
Pik3r1	A	T	13: 101,690,523 (GRCm38)	M326K	probably benign	Het
Pirb	A	T	7: 3,717,638 (GRCm38)	L287Q	probably benign	Het
Pkd1l2	T	C	8: 117,076,177 (GRCm38)	D235G	possibly damaging	Het
Ppp1r7	A	G	1: 93,364,956 (GRCm38)	T326A	probably damaging	Het
Prr22	A	T	17: 56,771,072 (GRCm38)	Y75F	possibly damaging	Het
Ptov1	A	C	7: 44,865,470 (GRCm38)		probably null	Het
Rasal2	A	G	1: 157,158,696 (GRCm38)	S766P	probably damaging	Het
Shmt1	T	C	11: 60,792,976 (GRCm38)	T337A	probably benign	Het
St5	G	T	7: 109,525,620 (GRCm38)	R1068S	possibly damaging	Het
Tbc1d4	A	T	14: 101,449,209 (GRCm38)	I1168N	probably damaging	Het
Tecpr2	T	C	12: 110,946,343 (GRCm38)	V1126A	probably benign	Het
Tep1	A	T	14: 50,829,230 (GRCm38)	S2304T	possibly damaging	Het
Tiam1	C	A	16: 89,789,561 (GRCm38)	R1446M	probably damaging	Het
Tmem87a	T	C	2: 120,370,484 (GRCm38)	I425V	probably benign	Het
Ubr3	T	C	2: 69,951,421 (GRCm38)		probably benign	Het
Ubxn7	T	A	16: 32,381,763 (GRCm38)		probably benign	Het
Vmn2r13	A	G	5: 109,156,847 (GRCm38)	S573P	probably damaging	Het
Wdfy3	A	T	5: 101,957,388 (GRCm38)	V191E	probably damaging	Het
Zdhhc3	A	T	9: 123,083,623 (GRCm38)	C153*	probably null	Het
Zfp407	A	T	18: 84,209,022 (GRCm38)	V2154D	probably damaging	Het
Zfp407	A	G	18: 84,209,346 (GRCm38)	V2046A	probably benign	Het
Zfr	T	A	15: 12,140,548 (GRCm38)	I227N	unknown	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
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
R9291:Pkhd1l1	UTSW	15	44,569,976 (GRCm38)	missense	probably damaging	1.00
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'- ggaacaactcagttatTACCACACTCGT -3'
(R):5'- TGGGCAGGCACTCCATGTATTAGAA -3'

Sequencing Primer
(F):5'- ctcagttatTACCACACTCGTAAAAC -3'
(R):5'- GGCACTCCATGTATTAGAATGTCTAC -3'

Posted On

2013-10-16