Mutagenetix > Incidental Mutation

Incidental Mutation 'R8982:Pkhd1l1'

683795

Institutional Source

Beutler Lab

Gene Symbol

Pkhd1l1

Ensembl Gene

ENSMUSG00000038725

Gene Name

polycystic kidney and hepatic disease 1-like 1

Synonyms

fibrocystin L, D86 mRNA, PKHDL1

MMRRC Submission

068815-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8982 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

44320890-44464765 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

T to A at 44387069 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Stop codon at position 1314 (L1314*)

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 null
Transcript: ENSMUST00000038336
AA Change: L1314*

SMART Domains

Protein: ENSMUSP00000036988
Gene: ENSMUSG00000038725
AA Change: L1314*

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 null
Transcript: ENSMUST00000166957
AA Change: L1314*

SMART Domains

Protein: ENSMUSP00000129522
Gene: ENSMUSG00000038725
AA Change: L1314*

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 null
Transcript: ENSMUST00000209244
AA Change: L1314*

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.2%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acsl3	A	G	1: 78,677,485 (GRCm39)	N493S	probably benign	Het
Actg2	T	C	6: 83,497,697 (GRCm39)	D185G	probably benign	Het
Alpk3	A	G	7: 80,748,750 (GRCm39)	N1439S	probably damaging	Het
Arid1b	T	A	17: 5,293,316 (GRCm39)	S745T	probably damaging	Het
Atxn2l	CCAGCAGCAGCAGCAGCAGC	CCAGCAGCAGCAGCAGC	7: 126,093,420 (GRCm39)		probably benign	Het
C4b	A	G	17: 34,953,338 (GRCm39)		probably null	Het
Cenpc1	A	G	5: 86,195,533 (GRCm39)	S79P	probably damaging	Het
Cep295nl	A	T	11: 118,224,671 (GRCm39)	W58R	probably damaging	Het
Ces2f	T	A	8: 105,679,667 (GRCm39)	C387S	probably benign	Het
Cfap74	G	A	4: 155,521,187 (GRCm39)	E620K		Het
Ckap5	T	C	2: 91,437,923 (GRCm39)	V1668A	possibly damaging	Het
Clock	A	G	5: 76,364,559 (GRCm39)	V852A	unknown	Het
Col22a1	A	G	15: 71,845,487 (GRCm39)		probably null	Het
Copb2	T	C	9: 98,456,164 (GRCm39)	S233P	probably damaging	Het
Dnah3	T	C	7: 119,536,294 (GRCm39)	Y684C	probably damaging	Het
Dnah7a	T	C	1: 53,570,301 (GRCm39)	E1835G	probably benign	Het
F830045P16Rik	T	A	2: 129,314,812 (GRCm39)	Q155L	probably damaging	Het
Fhad1	T	C	4: 141,729,895 (GRCm39)	D36G	probably damaging	Het
Hectd4	T	C	5: 121,466,305 (GRCm39)	V2412A	probably benign	Het
Hoxa13	T	A	6: 52,235,916 (GRCm39)	K210*	probably null	Het
Hoxc5	T	C	15: 102,923,740 (GRCm39)	Y179H	probably damaging	Het
Hrob	G	A	11: 102,146,110 (GRCm39)	A129T	probably benign	Het
Htr1d	A	T	4: 136,170,866 (GRCm39)	Q365L	possibly damaging	Het
Krt72	C	T	15: 101,690,059 (GRCm39)	V253M	possibly damaging	Het
Mecom	G	A	3: 30,017,255 (GRCm39)	T470I	probably damaging	Het
Nefh	G	A	11: 4,897,549 (GRCm39)	A129V	probably damaging	Het
Nlrp2	T	A	7: 5,327,978 (GRCm39)	I692F	probably damaging	Het
Nr6a1	T	A	2: 38,762,613 (GRCm39)	I61L	probably benign	Het
Or10aa1	T	G	1: 173,870,188 (GRCm39)	V224G	probably damaging	Het
Or10j2	G	A	1: 173,098,306 (GRCm39)	C188Y	probably damaging	Het
Or5d18	A	T	2: 87,864,613 (GRCm39)	I290K	probably damaging	Het
Pck1	T	C	2: 172,999,112 (GRCm39)	V426A	probably damaging	Het
Pogz	G	A	3: 94,786,879 (GRCm39)	V1156M	probably damaging	Het
Pramel23	T	G	4: 143,424,886 (GRCm39)	I186L	probably benign	Het
Prrc2b	T	A	2: 32,102,134 (GRCm39)	C736S	probably damaging	Het
Psg18	T	A	7: 18,083,300 (GRCm39)	H285L	probably benign	Het
Ptprb	GAGACCCTCGGGAGCACTGCAAAGACCCTCGGGAGCACTGCAAAGACCCTCGGGAGCACTGCAAAGACCCTCGGGAGCACT	GAGACCCTCGGGAGCACTGCAAAGACCCTCGGGAGCACTGCAAAGACCCTCGGGAGCACT	10: 116,119,582 (GRCm39)		probably benign	Het
Ptprk	A	T	10: 28,436,138 (GRCm39)	D833V	probably damaging	Het
Rfx6	G	A	10: 51,599,915 (GRCm39)	V554M	probably benign	Het
Rimbp3	A	G	16: 17,027,511 (GRCm39)	T312A	probably benign	Het
Slfn5	G	A	11: 82,850,966 (GRCm39)	W421*	probably null	Het
Srcin1	A	G	11: 97,426,624 (GRCm39)	I291T	probably damaging	Het
Sult3a2	T	C	10: 33,658,069 (GRCm39)	N15D	probably damaging	Het
Tmem179	A	T	12: 112,468,301 (GRCm39)	L193Q	probably damaging	Het
Tmem200b	T	A	4: 131,649,668 (GRCm39)	L196Q	probably damaging	Het
Trim71	T	C	9: 114,342,804 (GRCm39)	T493A	possibly damaging	Het
Trp53bp2	T	A	1: 182,263,001 (GRCm39)		probably null	Het
Zbtb47	A	G	9: 121,592,334 (GRCm39)	E218G	probably benign	Het
Zbtb7c	G	A	18: 76,279,344 (GRCm39)	G601S	probably damaging	Het
Zdhhc3	A	G	9: 122,929,578 (GRCm39)	L19P	probably benign	Het
Zfp385b	G	T	2: 77,242,300 (GRCm39)	T473K	probably damaging	Het
Zfp804a	A	G	2: 82,066,172 (GRCm39)	K48E	probably damaging	Het

Other mutations in Pkhd1l1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00233:Pkhd1l1	APN	15	44,340,982 (GRCm39)	missense	probably damaging	1.00
IGL00235:Pkhd1l1	APN	15	44,419,415 (GRCm39)	missense	probably damaging	1.00
IGL00264:Pkhd1l1	APN	15	44,354,425 (GRCm39)	missense	possibly damaging	0.67
IGL00537:Pkhd1l1	APN	15	44,455,388 (GRCm39)	missense	possibly damaging	0.88
IGL00537:Pkhd1l1	APN	15	44,363,443 (GRCm39)	missense	probably benign	0.42
IGL00580:Pkhd1l1	APN	15	44,449,870 (GRCm39)	missense	probably damaging	0.98
IGL01085:Pkhd1l1	APN	15	44,426,148 (GRCm39)	splice site	probably null
IGL01089:Pkhd1l1	APN	15	44,347,265 (GRCm39)	splice site	probably benign
IGL01094:Pkhd1l1	APN	15	44,410,325 (GRCm39)	missense	probably benign	0.09
IGL01120:Pkhd1l1	APN	15	44,368,708 (GRCm39)	critical splice donor site	probably null
IGL01307:Pkhd1l1	APN	15	44,393,425 (GRCm39)	missense	possibly damaging	0.82
IGL01362:Pkhd1l1	APN	15	44,396,378 (GRCm39)	missense	probably benign	0.00
IGL01403:Pkhd1l1	APN	15	44,347,229 (GRCm39)	nonsense	probably null
IGL01546:Pkhd1l1	APN	15	44,429,712 (GRCm39)	missense	probably damaging	1.00
IGL01596:Pkhd1l1	APN	15	44,392,806 (GRCm39)	missense	possibly damaging	0.50
IGL01696:Pkhd1l1	APN	15	44,392,747 (GRCm39)	missense	possibly damaging	0.79
IGL01844:Pkhd1l1	APN	15	44,362,796 (GRCm39)	splice site	probably benign
IGL02007:Pkhd1l1	APN	15	44,397,129 (GRCm39)	splice site	probably benign
IGL02041:Pkhd1l1	APN	15	44,356,452 (GRCm39)	splice site	probably null
IGL02171:Pkhd1l1	APN	15	44,379,542 (GRCm39)	missense	possibly damaging	0.80
IGL02206:Pkhd1l1	APN	15	44,376,245 (GRCm39)	missense	probably benign	0.08
IGL02266:Pkhd1l1	APN	15	44,437,010 (GRCm39)	missense	probably damaging	1.00
IGL02487:Pkhd1l1	APN	15	44,322,822 (GRCm39)	missense	possibly damaging	0.65
IGL02488:Pkhd1l1	APN	15	44,421,993 (GRCm39)	missense	probably benign
IGL02522:Pkhd1l1	APN	15	44,419,298 (GRCm39)	missense	possibly damaging	0.71
IGL02554:Pkhd1l1	APN	15	44,441,896 (GRCm39)	missense	probably damaging	1.00
IGL02566:Pkhd1l1	APN	15	44,389,450 (GRCm39)	splice site	probably null
IGL02602:Pkhd1l1	APN	15	44,421,327 (GRCm39)	missense	probably damaging	1.00
IGL02606:Pkhd1l1	APN	15	44,452,852 (GRCm39)	missense	probably benign	0.00
IGL02623:Pkhd1l1	APN	15	44,448,269 (GRCm39)	missense	probably damaging	1.00
IGL02634:Pkhd1l1	APN	15	44,403,063 (GRCm39)	missense	probably damaging	1.00
IGL02637:Pkhd1l1	APN	15	44,427,720 (GRCm39)	missense	probably damaging	1.00
IGL02651:Pkhd1l1	APN	15	44,347,210 (GRCm39)	missense	probably damaging	1.00
IGL02679:Pkhd1l1	APN	15	44,393,441 (GRCm39)	critical splice donor site	probably null
IGL02684:Pkhd1l1	APN	15	44,379,605 (GRCm39)	critical splice donor site	probably null
IGL02739:Pkhd1l1	APN	15	44,404,346 (GRCm39)	missense	probably benign	0.11
IGL02831:Pkhd1l1	APN	15	44,364,889 (GRCm39)	missense	probably benign	0.18
IGL02839:Pkhd1l1	APN	15	44,392,939 (GRCm39)	missense	probably damaging	0.98
IGL02944:Pkhd1l1	APN	15	44,364,927 (GRCm39)	missense	probably damaging	1.00
IGL02957:Pkhd1l1	APN	15	44,376,304 (GRCm39)	missense	probably damaging	1.00
IGL03001:Pkhd1l1	APN	15	44,421,400 (GRCm39)	missense	probably damaging	1.00
IGL03030:Pkhd1l1	APN	15	44,460,298 (GRCm39)	missense	probably benign	0.41
IGL03030:Pkhd1l1	APN	15	44,455,372 (GRCm39)	missense	probably benign	0.00
IGL03132:Pkhd1l1	APN	15	44,438,013 (GRCm39)	missense	probably damaging	1.00
IGL03194:Pkhd1l1	APN	15	44,381,531 (GRCm39)	missense	probably damaging	1.00
IGL03219:Pkhd1l1	APN	15	44,460,291 (GRCm39)	missense	possibly damaging	0.62
IGL03236:Pkhd1l1	APN	15	44,445,222 (GRCm39)	missense	probably damaging	1.00
IGL03266:Pkhd1l1	APN	15	44,402,348 (GRCm39)	missense	probably damaging	1.00
IGL03276:Pkhd1l1	APN	15	44,457,980 (GRCm39)	missense	possibly damaging	0.77
IGL03284:Pkhd1l1	APN	15	44,410,914 (GRCm39)	splice site	probably benign
IGL03377:Pkhd1l1	APN	15	44,347,747 (GRCm39)	splice site	probably null
R0310_Pkhd1l1_251	UTSW	15	44,386,134 (GRCm39)	splice site	probably benign
R0344_Pkhd1l1_462	UTSW	15	44,460,407 (GRCm39)	missense	probably benign	0.15
R1737_Pkhd1l1_815	UTSW	15	44,410,905 (GRCm39)	critical splice donor site	probably null
R5049_Pkhd1l1_556	UTSW	15	44,321,012 (GRCm39)	missense	probably benign	0.00
K7371:Pkhd1l1	UTSW	15	44,363,463 (GRCm39)	missense	possibly damaging	0.94
K7371:Pkhd1l1	UTSW	15	44,400,838 (GRCm39)	missense	possibly damaging	0.67
N/A - 287:Pkhd1l1	UTSW	15	44,445,654 (GRCm39)	missense	probably damaging	0.98
P4717OSA:Pkhd1l1	UTSW	15	44,391,643 (GRCm39)	missense	probably damaging	1.00
P4717OSA:Pkhd1l1	UTSW	15	44,386,895 (GRCm39)	missense	probably benign	0.17
R0007:Pkhd1l1	UTSW	15	44,437,794 (GRCm39)	splice site	probably benign
R0020:Pkhd1l1	UTSW	15	44,420,268 (GRCm39)	missense	probably damaging	1.00
R0034:Pkhd1l1	UTSW	15	44,367,405 (GRCm39)	missense	probably benign	0.00
R0040:Pkhd1l1	UTSW	15	44,437,021 (GRCm39)	missense	probably damaging	1.00
R0050:Pkhd1l1	UTSW	15	44,437,203 (GRCm39)	missense	possibly damaging	0.79
R0050:Pkhd1l1	UTSW	15	44,437,203 (GRCm39)	missense	possibly damaging	0.79
R0063:Pkhd1l1	UTSW	15	44,392,633 (GRCm39)	missense	probably damaging	1.00
R0063:Pkhd1l1	UTSW	15	44,392,633 (GRCm39)	missense	probably damaging	1.00
R0086:Pkhd1l1	UTSW	15	44,419,404 (GRCm39)	missense	possibly damaging	0.94
R0103:Pkhd1l1	UTSW	15	44,460,537 (GRCm39)	missense	probably benign
R0103:Pkhd1l1	UTSW	15	44,460,537 (GRCm39)	missense	probably benign
R0127:Pkhd1l1	UTSW	15	44,418,001 (GRCm39)	missense	probably damaging	0.99
R0226:Pkhd1l1	UTSW	15	44,390,180 (GRCm39)	missense	possibly damaging	0.65
R0268:Pkhd1l1	UTSW	15	44,460,407 (GRCm39)	missense	probably benign	0.15
R0294:Pkhd1l1	UTSW	15	44,423,831 (GRCm39)	missense	probably benign	0.05
R0310:Pkhd1l1	UTSW	15	44,386,134 (GRCm39)	splice site	probably benign
R0344:Pkhd1l1	UTSW	15	44,460,407 (GRCm39)	missense	probably benign	0.15
R0449:Pkhd1l1	UTSW	15	44,364,915 (GRCm39)	missense	probably damaging	1.00
R0492:Pkhd1l1	UTSW	15	44,383,086 (GRCm39)	missense	probably benign	0.03
R0505:Pkhd1l1	UTSW	15	44,452,814 (GRCm39)	missense	probably damaging	1.00
R0529:Pkhd1l1	UTSW	15	44,390,150 (GRCm39)	missense	possibly damaging	0.62
R0543:Pkhd1l1	UTSW	15	44,386,887 (GRCm39)	critical splice acceptor site	probably null
R0552:Pkhd1l1	UTSW	15	44,352,942 (GRCm39)	missense	probably damaging	0.98
R0558:Pkhd1l1	UTSW	15	44,347,820 (GRCm39)	missense	probably damaging	0.97
R0609:Pkhd1l1	UTSW	15	44,330,820 (GRCm39)	missense	possibly damaging	0.48
R0619:Pkhd1l1	UTSW	15	44,347,234 (GRCm39)	missense	probably damaging	1.00
R0727:Pkhd1l1	UTSW	15	44,399,184 (GRCm39)	missense	possibly damaging	0.80
R0787:Pkhd1l1	UTSW	15	44,392,660 (GRCm39)	missense	probably damaging	1.00
R0846:Pkhd1l1	UTSW	15	44,358,993 (GRCm39)	missense	probably damaging	1.00
R0909:Pkhd1l1	UTSW	15	44,402,279 (GRCm39)	splice site	probably null
R0942:Pkhd1l1	UTSW	15	44,396,355 (GRCm39)	missense	probably benign	0.01
R1056:Pkhd1l1	UTSW	15	44,455,360 (GRCm39)	missense	probably damaging	1.00
R1147:Pkhd1l1	UTSW	15	44,400,837 (GRCm39)	missense	probably null	0.15
R1147:Pkhd1l1	UTSW	15	44,400,837 (GRCm39)	missense	probably null	0.15
R1187:Pkhd1l1	UTSW	15	44,361,447 (GRCm39)	missense	possibly damaging	0.65
R1328:Pkhd1l1	UTSW	15	44,361,392 (GRCm39)	missense	probably benign	0.01
R1331:Pkhd1l1	UTSW	15	44,452,993 (GRCm39)	missense	probably damaging	1.00
R1331:Pkhd1l1	UTSW	15	44,368,943 (GRCm39)	missense	probably damaging	1.00
R1332:Pkhd1l1	UTSW	15	44,368,943 (GRCm39)	missense	probably damaging	1.00
R1335:Pkhd1l1	UTSW	15	44,368,943 (GRCm39)	missense	probably damaging	1.00
R1338:Pkhd1l1	UTSW	15	44,390,120 (GRCm39)	missense	probably damaging	1.00
R1440:Pkhd1l1	UTSW	15	44,404,384 (GRCm39)	splice site	probably benign
R1445:Pkhd1l1	UTSW	15	44,369,040 (GRCm39)	missense	probably benign	0.32
R1458:Pkhd1l1	UTSW	15	44,379,511 (GRCm39)	missense	probably benign	0.01
R1469:Pkhd1l1	UTSW	15	44,400,282 (GRCm39)	missense	probably benign	0.45
R1469:Pkhd1l1	UTSW	15	44,400,282 (GRCm39)	missense	probably benign	0.45
R1500:Pkhd1l1	UTSW	15	44,408,890 (GRCm39)	missense	probably damaging	1.00
R1528:Pkhd1l1	UTSW	15	44,390,120 (GRCm39)	missense	probably damaging	1.00
R1542:Pkhd1l1	UTSW	15	44,391,587 (GRCm39)	missense	probably benign	0.44
R1568:Pkhd1l1	UTSW	15	44,408,897 (GRCm39)	splice site	probably null
R1571:Pkhd1l1	UTSW	15	44,390,237 (GRCm39)	missense	probably benign
R1572:Pkhd1l1	UTSW	15	44,406,869 (GRCm39)	missense	probably benign	0.01
R1604:Pkhd1l1	UTSW	15	44,330,763 (GRCm39)	nonsense	probably null
R1638:Pkhd1l1	UTSW	15	44,460,513 (GRCm39)	missense	probably benign	0.06
R1639:Pkhd1l1	UTSW	15	44,404,351 (GRCm39)	missense	probably damaging	0.99
R1737:Pkhd1l1	UTSW	15	44,410,905 (GRCm39)	critical splice donor site	probably null
R1816:Pkhd1l1	UTSW	15	44,391,635 (GRCm39)	missense	possibly damaging	0.91
R1826:Pkhd1l1	UTSW	15	44,366,741 (GRCm39)	missense	possibly damaging	0.75
R1880:Pkhd1l1	UTSW	15	44,388,638 (GRCm39)	missense	probably benign	0.13
R1930:Pkhd1l1	UTSW	15	44,366,733 (GRCm39)	missense	possibly damaging	0.69
R1933:Pkhd1l1	UTSW	15	44,404,280 (GRCm39)	missense	possibly damaging	0.48
R1938:Pkhd1l1	UTSW	15	44,363,434 (GRCm39)	missense	probably benign
R1975:Pkhd1l1	UTSW	15	44,393,109 (GRCm39)	missense	probably damaging	1.00
R1999:Pkhd1l1	UTSW	15	44,363,378 (GRCm39)	splice site	probably null
R2037:Pkhd1l1	UTSW	15	44,431,617 (GRCm39)	splice site	probably null
R2045:Pkhd1l1	UTSW	15	44,343,050 (GRCm39)	missense	probably damaging	1.00
R2049:Pkhd1l1	UTSW	15	44,445,137 (GRCm39)	missense	probably damaging	1.00
R2049:Pkhd1l1	UTSW	15	44,410,909 (GRCm39)	splice site	probably benign
R2063:Pkhd1l1	UTSW	15	44,414,148 (GRCm39)	missense	possibly damaging	0.69
R2072:Pkhd1l1	UTSW	15	44,422,035 (GRCm39)	missense	probably damaging	1.00
R2073:Pkhd1l1	UTSW	15	44,422,035 (GRCm39)	missense	probably damaging	1.00
R2075:Pkhd1l1	UTSW	15	44,422,035 (GRCm39)	missense	probably damaging	1.00
R2078:Pkhd1l1	UTSW	15	44,391,163 (GRCm39)	missense	probably benign	0.08
R2116:Pkhd1l1	UTSW	15	44,432,878 (GRCm39)	missense	probably damaging	0.97
R2133:Pkhd1l1	UTSW	15	44,379,581 (GRCm39)	missense	possibly damaging	0.91
R2138:Pkhd1l1	UTSW	15	44,364,853 (GRCm39)	missense	probably damaging	1.00
R2139:Pkhd1l1	UTSW	15	44,393,214 (GRCm39)	missense	possibly damaging	0.46
R2145:Pkhd1l1	UTSW	15	44,376,273 (GRCm39)	splice site	probably null
R2150:Pkhd1l1	UTSW	15	44,363,378 (GRCm39)	splice site	probably null
R2177:Pkhd1l1	UTSW	15	44,322,791 (GRCm39)	missense	probably benign
R2184:Pkhd1l1	UTSW	15	44,362,692 (GRCm39)	missense	possibly damaging	0.89
R2216:Pkhd1l1	UTSW	15	44,437,291 (GRCm39)	missense	probably damaging	1.00
R2226:Pkhd1l1	UTSW	15	44,376,188 (GRCm39)	missense	possibly damaging	0.79
R2227:Pkhd1l1	UTSW	15	44,376,188 (GRCm39)	missense	possibly damaging	0.79
R2243:Pkhd1l1	UTSW	15	44,410,323 (GRCm39)	missense	probably damaging	1.00
R2290:Pkhd1l1	UTSW	15	44,391,646 (GRCm39)	missense	probably benign	0.03
R2294:Pkhd1l1	UTSW	15	44,343,003 (GRCm39)	missense	probably damaging	0.99
R2346:Pkhd1l1	UTSW	15	44,423,902 (GRCm39)	missense	possibly damaging	0.82
R2356:Pkhd1l1	UTSW	15	44,396,415 (GRCm39)	missense	probably benign	0.00
R2386:Pkhd1l1	UTSW	15	44,391,574 (GRCm39)	missense	probably benign	0.00
R2404:Pkhd1l1	UTSW	15	44,414,216 (GRCm39)	missense	probably damaging	1.00
R2504:Pkhd1l1	UTSW	15	44,348,824 (GRCm39)	missense	probably damaging	0.97
R2679:Pkhd1l1	UTSW	15	44,408,782 (GRCm39)	missense	probably damaging	0.99
R2860:Pkhd1l1	UTSW	15	44,404,267 (GRCm39)	missense	probably damaging	1.00
R2861:Pkhd1l1	UTSW	15	44,404,267 (GRCm39)	missense	probably damaging	1.00
R2862:Pkhd1l1	UTSW	15	44,404,267 (GRCm39)	missense	probably damaging	1.00
R2972:Pkhd1l1	UTSW	15	44,410,644 (GRCm39)	missense	possibly damaging	0.65
R3016:Pkhd1l1	UTSW	15	44,408,766 (GRCm39)	missense	probably benign	0.02
R3162:Pkhd1l1	UTSW	15	44,368,924 (GRCm39)	missense	probably damaging	1.00
R3162:Pkhd1l1	UTSW	15	44,368,924 (GRCm39)	missense	probably damaging	1.00
R3416:Pkhd1l1	UTSW	15	44,410,760 (GRCm39)	missense	probably damaging	1.00
R3623:Pkhd1l1	UTSW	15	44,390,265 (GRCm39)	missense	probably damaging	1.00
R3687:Pkhd1l1	UTSW	15	44,409,983 (GRCm39)	missense	probably benign	0.17
R3755:Pkhd1l1	UTSW	15	44,452,802 (GRCm39)	missense	probably damaging	1.00
R3776:Pkhd1l1	UTSW	15	44,378,371 (GRCm39)	critical splice donor site	probably null
R3803:Pkhd1l1	UTSW	15	44,356,531 (GRCm39)	missense	probably benign	0.25
R3942:Pkhd1l1	UTSW	15	44,455,422 (GRCm39)	critical splice donor site	probably null
R4010:Pkhd1l1	UTSW	15	44,392,496 (GRCm39)	missense	possibly damaging	0.80
R4049:Pkhd1l1	UTSW	15	44,361,953 (GRCm39)	missense	probably damaging	1.00
R4059:Pkhd1l1	UTSW	15	44,414,156 (GRCm39)	missense	probably benign	0.01
R4179:Pkhd1l1	UTSW	15	44,387,045 (GRCm39)	missense	probably benign	0.45
R4184:Pkhd1l1	UTSW	15	44,455,302 (GRCm39)	missense	probably benign	0.00
R4369:Pkhd1l1	UTSW	15	44,368,949 (GRCm39)	missense	probably benign	0.00
R4462:Pkhd1l1	UTSW	15	44,445,200 (GRCm39)	missense	probably damaging	1.00
R4551:Pkhd1l1	UTSW	15	44,414,281 (GRCm39)	missense	probably damaging	1.00
R4618:Pkhd1l1	UTSW	15	44,403,078 (GRCm39)	missense	probably damaging	1.00
R4632:Pkhd1l1	UTSW	15	44,347,796 (GRCm39)	missense	probably benign	0.07
R4657:Pkhd1l1	UTSW	15	44,410,743 (GRCm39)	missense	probably damaging	1.00
R4716:Pkhd1l1	UTSW	15	44,419,428 (GRCm39)	missense	probably damaging	1.00
R4788:Pkhd1l1	UTSW	15	44,361,417 (GRCm39)	missense	probably damaging	0.99
R4828:Pkhd1l1	UTSW	15	44,392,801 (GRCm39)	missense	possibly damaging	0.55
R4858:Pkhd1l1	UTSW	15	44,354,497 (GRCm39)	missense	probably damaging	0.99
R4860:Pkhd1l1	UTSW	15	44,400,774 (GRCm39)	missense	possibly damaging	0.77
R4860:Pkhd1l1	UTSW	15	44,400,774 (GRCm39)	missense	possibly damaging	0.77
R4951:Pkhd1l1	UTSW	15	44,397,287 (GRCm39)	missense	possibly damaging	0.82
R4963:Pkhd1l1	UTSW	15	44,367,421 (GRCm39)	missense	probably benign	0.00
R5023:Pkhd1l1	UTSW	15	44,391,587 (GRCm39)	missense	probably benign	0.44
R5023:Pkhd1l1	UTSW	15	44,445,623 (GRCm39)	missense	probably benign	0.00
R5035:Pkhd1l1	UTSW	15	44,431,720 (GRCm39)	missense	probably damaging	1.00
R5049:Pkhd1l1	UTSW	15	44,321,012 (GRCm39)	missense	probably benign	0.00
R5065:Pkhd1l1	UTSW	15	44,445,689 (GRCm39)	missense	possibly damaging	0.68
R5089:Pkhd1l1	UTSW	15	44,455,283 (GRCm39)	missense	probably benign	0.01
R5151:Pkhd1l1	UTSW	15	44,368,705 (GRCm39)	missense	probably benign	0.00
R5153:Pkhd1l1	UTSW	15	44,368,705 (GRCm39)	missense	probably benign	0.00
R5189:Pkhd1l1	UTSW	15	44,410,544 (GRCm39)	missense	probably damaging	1.00
R5204:Pkhd1l1	UTSW	15	44,410,437 (GRCm39)	missense	possibly damaging	0.51
R5216:Pkhd1l1	UTSW	15	44,359,043 (GRCm39)	nonsense	probably null
R5286:Pkhd1l1	UTSW	15	44,378,368 (GRCm39)	nonsense	probably null
R5292:Pkhd1l1	UTSW	15	44,392,962 (GRCm39)	missense	probably damaging	1.00
R5293:Pkhd1l1	UTSW	15	44,399,146 (GRCm39)	missense	probably benign	0.01
R5298:Pkhd1l1	UTSW	15	44,367,442 (GRCm39)	missense	probably benign	0.00
R5327:Pkhd1l1	UTSW	15	44,410,258 (GRCm39)	missense	probably damaging	1.00
R5346:Pkhd1l1	UTSW	15	44,404,363 (GRCm39)	missense	probably damaging	1.00
R5481:Pkhd1l1	UTSW	15	44,422,042 (GRCm39)	missense	probably damaging	1.00
R5645:Pkhd1l1	UTSW	15	44,396,388 (GRCm39)	missense	probably benign	0.18
R5718:Pkhd1l1	UTSW	15	44,408,813 (GRCm39)	missense	probably damaging	1.00
R5809:Pkhd1l1	UTSW	15	44,383,103 (GRCm39)	missense	probably benign	0.03
R5816:Pkhd1l1	UTSW	15	44,429,718 (GRCm39)	missense	probably benign	0.01
R5854:Pkhd1l1	UTSW	15	44,445,186 (GRCm39)	missense	probably damaging	1.00
R5876:Pkhd1l1	UTSW	15	44,441,984 (GRCm39)	missense	possibly damaging	0.51
R5909:Pkhd1l1	UTSW	15	44,390,159 (GRCm39)	missense	probably damaging	1.00
R5950:Pkhd1l1	UTSW	15	44,396,361 (GRCm39)	missense	probably benign	0.00
R5961:Pkhd1l1	UTSW	15	44,322,859 (GRCm39)	missense	probably damaging	1.00
R5972:Pkhd1l1	UTSW	15	44,408,812 (GRCm39)	missense	probably damaging	1.00
R5975:Pkhd1l1	UTSW	15	44,389,384 (GRCm39)	missense	probably damaging	1.00
R5982:Pkhd1l1	UTSW	15	44,352,900 (GRCm39)	splice site	probably null
R6066:Pkhd1l1	UTSW	15	44,391,525 (GRCm39)	missense	probably damaging	0.99
R6122:Pkhd1l1	UTSW	15	44,421,336 (GRCm39)	missense	probably damaging	1.00
R6248:Pkhd1l1	UTSW	15	44,392,955 (GRCm39)	missense	probably benign
R6294:Pkhd1l1	UTSW	15	44,433,424 (GRCm39)	missense	probably damaging	1.00
R6301:Pkhd1l1	UTSW	15	44,452,921 (GRCm39)	missense	probably damaging	0.99
R6526:Pkhd1l1	UTSW	15	44,361,485 (GRCm39)	critical splice donor site	probably null
R6707:Pkhd1l1	UTSW	15	44,392,539 (GRCm39)	missense	probably benign
R6736:Pkhd1l1	UTSW	15	44,421,336 (GRCm39)	missense	probably damaging	1.00
R6753:Pkhd1l1	UTSW	15	44,453,059 (GRCm39)	missense	probably benign	0.45
R6815:Pkhd1l1	UTSW	15	44,426,051 (GRCm39)	missense	probably damaging	1.00
R6874:Pkhd1l1	UTSW	15	44,452,923 (GRCm39)	missense	probably benign	0.06
R6942:Pkhd1l1	UTSW	15	44,386,025 (GRCm39)	missense	probably damaging	1.00
R6970:Pkhd1l1	UTSW	15	44,375,070 (GRCm39)	missense	possibly damaging	0.61
R6982:Pkhd1l1	UTSW	15	44,429,664 (GRCm39)	missense	probably damaging	0.97
R7103:Pkhd1l1	UTSW	15	44,437,027 (GRCm39)	missense	probably benign	0.02
R7116:Pkhd1l1	UTSW	15	44,421,372 (GRCm39)	missense	probably benign	0.00
R7135:Pkhd1l1	UTSW	15	44,448,374 (GRCm39)	critical splice donor site	probably null
R7143:Pkhd1l1	UTSW	15	44,437,033 (GRCm39)	missense	possibly damaging	0.93
R7177:Pkhd1l1	UTSW	15	44,330,800 (GRCm39)	missense	probably damaging	1.00
R7194:Pkhd1l1	UTSW	15	44,392,512 (GRCm39)	missense	probably damaging	1.00
R7204:Pkhd1l1	UTSW	15	44,386,949 (GRCm39)	missense	possibly damaging	0.90
R7215:Pkhd1l1	UTSW	15	44,391,559 (GRCm39)	missense	possibly damaging	0.78
R7218:Pkhd1l1	UTSW	15	44,386,091 (GRCm39)	missense	possibly damaging	0.49
R7225:Pkhd1l1	UTSW	15	44,410,337 (GRCm39)	missense	probably damaging	1.00
R7283:Pkhd1l1	UTSW	15	44,366,676 (GRCm39)	missense	probably benign	0.10
R7292:Pkhd1l1	UTSW	15	44,361,986 (GRCm39)	missense	probably benign
R7304:Pkhd1l1	UTSW	15	44,361,878 (GRCm39)	missense	possibly damaging	0.94
R7349:Pkhd1l1	UTSW	15	44,378,350 (GRCm39)	missense	probably damaging	1.00
R7359:Pkhd1l1	UTSW	15	44,452,882 (GRCm39)	missense	probably damaging	1.00
R7407:Pkhd1l1	UTSW	15	44,458,407 (GRCm39)	missense	possibly damaging	0.75
R7475:Pkhd1l1	UTSW	15	44,368,581 (GRCm39)	nonsense	probably null
R7481:Pkhd1l1	UTSW	15	44,376,307 (GRCm39)	missense	probably benign
R7554:Pkhd1l1	UTSW	15	44,358,866 (GRCm39)	missense	probably damaging	1.00
R7555:Pkhd1l1	UTSW	15	44,414,157 (GRCm39)	missense	possibly damaging	0.51
R7562:Pkhd1l1	UTSW	15	44,378,326 (GRCm39)	missense	possibly damaging	0.68
R7583:Pkhd1l1	UTSW	15	44,431,760 (GRCm39)	critical splice donor site	probably null
R7595:Pkhd1l1	UTSW	15	44,358,917 (GRCm39)	missense	probably damaging	1.00
R7749:Pkhd1l1	UTSW	15	44,391,133 (GRCm39)	missense	probably benign	0.00
R7754:Pkhd1l1	UTSW	15	44,449,804 (GRCm39)	missense	possibly damaging	0.94
R7761:Pkhd1l1	UTSW	15	44,393,280 (GRCm39)	missense	probably benign	0.00
R7774:Pkhd1l1	UTSW	15	44,404,303 (GRCm39)	missense	probably benign	0.03
R7785:Pkhd1l1	UTSW	15	44,406,965 (GRCm39)	missense	probably damaging	1.00
R7790:Pkhd1l1	UTSW	15	44,441,977 (GRCm39)	missense	probably damaging	1.00
R7804:Pkhd1l1	UTSW	15	44,460,534 (GRCm39)	nonsense	probably null
R7864:Pkhd1l1	UTSW	15	44,389,449 (GRCm39)	critical splice donor site	probably null
R7883:Pkhd1l1	UTSW	15	44,392,522 (GRCm39)	missense	probably damaging	1.00
R8031:Pkhd1l1	UTSW	15	44,376,230 (GRCm39)	missense	probably damaging	1.00
R8128:Pkhd1l1	UTSW	15	44,361,449 (GRCm39)	missense	possibly damaging	0.94
R8142:Pkhd1l1	UTSW	15	44,378,327 (GRCm39)	missense	probably benign	0.00
R8150:Pkhd1l1	UTSW	15	44,410,055 (GRCm39)	missense	possibly damaging	0.68
R8209:Pkhd1l1	UTSW	15	44,437,803 (GRCm39)	missense	possibly damaging	0.46
R8212:Pkhd1l1	UTSW	15	44,362,696 (GRCm39)	missense	probably benign	0.12
R8226:Pkhd1l1	UTSW	15	44,437,803 (GRCm39)	missense	possibly damaging	0.46
R8248:Pkhd1l1	UTSW	15	44,406,942 (GRCm39)	missense	probably damaging	0.99
R8299:Pkhd1l1	UTSW	15	44,445,330 (GRCm39)	missense	probably benign	0.26
R8425:Pkhd1l1	UTSW	15	44,437,911 (GRCm39)	missense	probably benign	0.01
R8485:Pkhd1l1	UTSW	15	44,423,796 (GRCm39)	missense	probably damaging	0.98
R8486:Pkhd1l1	UTSW	15	44,410,812 (GRCm39)	missense	probably damaging	1.00
R8701:Pkhd1l1	UTSW	15	44,438,079 (GRCm39)	missense	probably damaging	1.00
R8709:Pkhd1l1	UTSW	15	44,381,570 (GRCm39)	missense	probably benign	0.01
R8777:Pkhd1l1	UTSW	15	44,361,967 (GRCm39)	missense	probably damaging	1.00
R8777-TAIL:Pkhd1l1	UTSW	15	44,361,967 (GRCm39)	missense	probably damaging	1.00
R8845:Pkhd1l1	UTSW	15	44,368,650 (GRCm39)	missense	probably benign	0.30
R8846:Pkhd1l1	UTSW	15	44,410,358 (GRCm39)	nonsense	probably null
R8863:Pkhd1l1	UTSW	15	44,433,382 (GRCm39)	nonsense	probably null
R8917:Pkhd1l1	UTSW	15	44,396,403 (GRCm39)	missense	probably benign	0.04
R8936:Pkhd1l1	UTSW	15	44,402,312 (GRCm39)	missense	possibly damaging	0.94
R8962:Pkhd1l1	UTSW	15	44,400,291 (GRCm39)	missense	probably damaging	1.00
R8971:Pkhd1l1	UTSW	15	44,392,915 (GRCm39)	missense	possibly damaging	0.68
R8973:Pkhd1l1	UTSW	15	44,449,833 (GRCm39)	missense	probably damaging	1.00
R8994:Pkhd1l1	UTSW	15	44,410,499 (GRCm39)	missense	probably damaging	0.99
R9004:Pkhd1l1	UTSW	15	44,406,768 (GRCm39)	missense	probably benign	0.16
R9064:Pkhd1l1	UTSW	15	44,426,038 (GRCm39)	missense	possibly damaging	0.93
R9173:Pkhd1l1	UTSW	15	44,384,152 (GRCm39)	missense	probably benign	0.09
R9185:Pkhd1l1	UTSW	15	44,453,019 (GRCm39)	missense	probably benign	0.01
R9213:Pkhd1l1	UTSW	15	44,358,874 (GRCm39)	missense	probably damaging	1.00
R9218:Pkhd1l1	UTSW	15	44,384,122 (GRCm39)	missense	possibly damaging	0.90
R9256:Pkhd1l1	UTSW	15	44,397,290 (GRCm39)	critical splice donor site	probably null
R9291:Pkhd1l1	UTSW	15	44,433,372 (GRCm39)	missense	probably damaging	1.00
R9309:Pkhd1l1	UTSW	15	44,400,289 (GRCm39)	missense	probably benign	0.00
R9319:Pkhd1l1	UTSW	15	44,392,974 (GRCm39)	missense	possibly damaging	0.46
R9339:Pkhd1l1	UTSW	15	44,452,949 (GRCm39)	missense	probably damaging	1.00
R9366:Pkhd1l1	UTSW	15	44,410,308 (GRCm39)	missense	probably benign	0.03
R9444:Pkhd1l1	UTSW	15	44,418,053 (GRCm39)	missense	probably benign	0.00
R9464:Pkhd1l1	UTSW	15	44,343,009 (GRCm39)	missense	probably damaging	1.00
R9525:Pkhd1l1	UTSW	15	44,448,322 (GRCm39)	missense	possibly damaging	0.88
R9542:Pkhd1l1	UTSW	15	44,410,284 (GRCm39)	missense	probably benign	0.12
R9544:Pkhd1l1	UTSW	15	44,410,239 (GRCm39)	missense	probably damaging	1.00
R9608:Pkhd1l1	UTSW	15	44,442,029 (GRCm39)	missense	possibly damaging	0.65
R9673:Pkhd1l1	UTSW	15	44,386,901 (GRCm39)	missense	probably benign	0.22
R9771:Pkhd1l1	UTSW	15	44,358,883 (GRCm39)	missense	probably benign
R9792:Pkhd1l1	UTSW	15	44,406,983 (GRCm39)	missense	probably benign	0.00
R9793:Pkhd1l1	UTSW	15	44,406,983 (GRCm39)	missense	probably benign	0.00
R9795:Pkhd1l1	UTSW	15	44,406,983 (GRCm39)	missense	probably benign	0.00
RF006:Pkhd1l1	UTSW	15	44,421,903 (GRCm39)	critical splice acceptor site	probably benign
RF006:Pkhd1l1	UTSW	15	44,366,634 (GRCm39)	missense	probably benign	0.03
RF008:Pkhd1l1	UTSW	15	44,421,901 (GRCm39)	critical splice acceptor site	probably benign
RF012:Pkhd1l1	UTSW	15	44,421,901 (GRCm39)	critical splice acceptor site	probably benign
RF019:Pkhd1l1	UTSW	15	44,421,903 (GRCm39)	critical splice acceptor site	probably benign
RF030:Pkhd1l1	UTSW	15	44,421,898 (GRCm39)	critical splice acceptor site	probably benign
RF033:Pkhd1l1	UTSW	15	44,421,902 (GRCm39)	critical splice acceptor site	probably benign
RF038:Pkhd1l1	UTSW	15	44,421,899 (GRCm39)	critical splice acceptor site	probably benign
RF046:Pkhd1l1	UTSW	15	44,421,891 (GRCm39)	critical splice acceptor site	probably benign
X0027:Pkhd1l1	UTSW	15	44,455,362 (GRCm39)	missense	probably damaging	0.99
Z1177:Pkhd1l1	UTSW	15	44,441,974 (GRCm39)	missense	probably damaging	0.99
Z1177:Pkhd1l1	UTSW	15	44,436,972 (GRCm39)	missense	probably damaging	0.97

Predicted Primers

PCR Primer
(F):5'- TGAATTTTGCCTCTGAAACTGG -3'
(R):5'- ATGCATTCAAATCACAGAACCAGTG -3'

Sequencing Primer
(F):5'- GCCTCTGAAACTGGAAAATTTTTC -3'
(R):5'- AACCAAAGTGCTATTGCGTAC -3'

Posted On

2021-10-11