Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01137:Vwa8'

52723

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Vwa8

Ensembl Gene

ENSMUSG00000058997

Gene Name

von Willebrand factor A domain containing 8

Synonyms

1300010F03Rik, 4932416F07Rik

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL01137

Quality Score

Status

Chromosome

Chromosomal Location

79086492-79439750 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 79341087 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 1521 (L1521P)

Ref Sequence

ENSEMBL: ENSMUSP00000048925 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000040990]

AlphaFold

Q8CC88

Predicted Effect

probably damaging
Transcript: ENSMUST00000040990
AA Change: L1521P

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

SMART Domains

Protein: ENSMUSP00000048925
Gene: ENSMUSG00000058997
AA Change: L1521P

Domain	Start	End	E-Value	Type
low complexity region	5	15	N/A	INTRINSIC
low complexity region	20	33	N/A	INTRINSIC
Pfam:AAA_5	104	260	6.3e-44	PFAM
AAA	438	613	4.69e-2	SMART
AAA	772	904	1.26e-1	SMART
low complexity region	1213	1221	N/A	INTRINSIC
low complexity region	1565	1586	N/A	INTRINSIC
VWA	1712	1901	2.71e-10	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000227294

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000227710

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts20	C	A	15: 94,292,492 (GRCm39)		probably null	Het
Ankrd11	T	C	8: 123,611,075 (GRCm39)	T2583A	probably damaging	Het
Anxa7	G	A	14: 20,506,648 (GRCm39)	Q431*	probably null	Het
Asb15	T	A	6: 24,556,521 (GRCm39)	D5E	probably benign	Het
Bex1	C	A	X: 135,115,243 (GRCm39)	D29Y	probably damaging	Het
Cadm2	G	A	16: 66,612,238 (GRCm39)	T108I	probably damaging	Het
Cecr2	T	G	6: 120,738,989 (GRCm39)	L1211V	probably damaging	Het
Cntn2	T	C	1: 132,449,035 (GRCm39)		probably benign	Het
Ctrc	C	A	4: 141,566,065 (GRCm39)	V198L	possibly damaging	Het
Cyp2g1	A	G	7: 26,513,684 (GRCm39)	S208G	possibly damaging	Het
Ddx46	T	A	13: 55,817,530 (GRCm39)	Y718*	probably null	Het
Dlec1	T	C	9: 118,966,379 (GRCm39)	I1116T	probably damaging	Het
Dnajc13	A	G	9: 104,037,689 (GRCm39)	Y2177H	probably benign	Het
Dpp6	T	C	5: 27,919,486 (GRCm39)	F661S	probably damaging	Het
Dpy19l2	G	A	9: 24,569,858 (GRCm39)	T365I	possibly damaging	Het
Flot2	T	C	11: 77,940,333 (GRCm39)	Y27H	probably damaging	Het
Gsta4	T	C	9: 78,113,204 (GRCm39)	Y95H	possibly damaging	Het
Kir3dl1	A	G	X: 135,427,360 (GRCm39)	T192A	probably damaging	Het
Llgl1	T	A	11: 60,600,825 (GRCm39)	N640K	probably benign	Het
Lrch1	C	T	14: 74,994,532 (GRCm39)	V691M	probably damaging	Het
Myh9	T	C	15: 77,653,742 (GRCm39)	D1302G	probably benign	Het
Myo18a	T	G	11: 77,718,655 (GRCm39)	F935V	probably damaging	Het
Mypn	T	C	10: 62,988,633 (GRCm39)	E464G	probably benign	Het
Or52l1	A	G	7: 104,829,695 (GRCm39)	V290A	probably benign	Het
Or5ac25	A	C	16: 59,182,335 (GRCm39)	M82R	probably benign	Het
Or5b101	A	T	19: 13,005,394 (GRCm39)	F100I	possibly damaging	Het
Or8k38	A	T	2: 86,488,055 (GRCm39)	I249N	possibly damaging	Het
R3hdm1	C	T	1: 128,109,612 (GRCm39)	R39C	probably damaging	Het
Rps3a3	A	T	13: 108,807,666 (GRCm39)		probably benign	Het
Sec24b	C	T	3: 129,801,093 (GRCm39)	S401N	probably benign	Het
Slc22a22	C	A	15: 57,117,674 (GRCm39)	G289V	probably damaging	Het
Stk33	T	C	7: 108,928,775 (GRCm39)	I246V	probably benign	Het
Tedc1	C	T	12: 113,126,808 (GRCm39)	R357*	probably null	Het
Timmdc1	A	T	16: 38,338,747 (GRCm39)	H114Q	probably benign	Het
Tlcd2	T	C	11: 75,360,337 (GRCm39)	Y127H	probably damaging	Het
Tnfrsf11a	G	A	1: 105,737,147 (GRCm39)	D85N	possibly damaging	Het
Trbc2	T	C	6: 41,524,751 (GRCm39)		probably benign	Het
Unc13b	G	A	4: 43,091,291 (GRCm39)	R39H	probably damaging	Het
Zbtb17	T	A	4: 141,193,678 (GRCm39)	C607*	probably null	Het

Other mutations in Vwa8

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00589:Vwa8	APN	14	79,275,635 (GRCm39)	missense	probably damaging	1.00
IGL01087:Vwa8	APN	14	79,172,669 (GRCm39)	missense	probably benign	0.16
IGL01359:Vwa8	APN	14	79,302,353 (GRCm39)	nonsense	probably null
IGL01449:Vwa8	APN	14	79,420,428 (GRCm39)	nonsense	probably null
IGL01604:Vwa8	APN	14	79,418,244 (GRCm39)	missense	possibly damaging	0.82
IGL01636:Vwa8	APN	14	79,435,794 (GRCm39)	missense	possibly damaging	0.68
IGL01815:Vwa8	APN	14	79,435,717 (GRCm39)	missense	possibly damaging	0.92
IGL02024:Vwa8	APN	14	79,331,724 (GRCm39)	missense	possibly damaging	0.91
IGL02033:Vwa8	APN	14	79,221,649 (GRCm39)	missense	possibly damaging	0.89
IGL02154:Vwa8	APN	14	79,086,733 (GRCm39)	missense	possibly damaging	0.53
IGL02286:Vwa8	APN	14	79,184,713 (GRCm39)	critical splice donor site	probably null
IGL02393:Vwa8	APN	14	79,420,417 (GRCm39)	missense	probably damaging	1.00
IGL02430:Vwa8	APN	14	79,172,085 (GRCm39)	critical splice donor site	probably null
IGL02476:Vwa8	APN	14	79,162,781 (GRCm39)	missense	possibly damaging	0.62
IGL02612:Vwa8	APN	14	79,420,552 (GRCm39)	missense	probably benign	0.01
IGL02678:Vwa8	APN	14	79,221,640 (GRCm39)	missense	probably damaging	0.99
IGL02797:Vwa8	APN	14	79,162,702 (GRCm39)	missense	probably benign	0.29
IGL02806:Vwa8	APN	14	79,394,528 (GRCm39)	missense	probably benign	0.35
IGL02811:Vwa8	APN	14	79,231,899 (GRCm39)	missense	probably benign	0.21
IGL02892:Vwa8	APN	14	79,341,140 (GRCm39)	splice site	probably benign
IGL03024:Vwa8	APN	14	79,232,538 (GRCm39)	missense	probably benign	0.03
IGL03075:Vwa8	APN	14	79,171,196 (GRCm39)	missense	probably damaging	0.99
IGL03090:Vwa8	APN	14	79,172,041 (GRCm39)	missense	possibly damaging	0.92
IGL03124:Vwa8	APN	14	79,296,255 (GRCm39)	splice site	probably benign
IGL03181:Vwa8	APN	14	79,246,690 (GRCm39)	missense	probably benign	0.01
IGL03296:Vwa8	APN	14	79,420,540 (GRCm39)	missense	probably damaging	0.98
IGL03376:Vwa8	APN	14	79,420,574 (GRCm39)	splice site	probably null
R6812_Vwa8_870	UTSW	14	79,434,859 (GRCm39)	missense	probably damaging	0.99
IGL03052:Vwa8	UTSW	14	79,302,361 (GRCm39)	missense	probably benign	0.02
PIT4468001:Vwa8	UTSW	14	79,420,501 (GRCm39)	missense	probably damaging	1.00
R0049:Vwa8	UTSW	14	79,331,179 (GRCm39)	missense	probably benign	0.21
R0063:Vwa8	UTSW	14	79,401,656 (GRCm39)	splice site	probably benign
R0063:Vwa8	UTSW	14	79,401,656 (GRCm39)	splice site	probably benign
R0081:Vwa8	UTSW	14	79,320,222 (GRCm39)	missense	probably benign	0.02
R0305:Vwa8	UTSW	14	79,246,713 (GRCm39)	missense	probably damaging	1.00
R0433:Vwa8	UTSW	14	79,300,116 (GRCm39)	missense	probably damaging	1.00
R0514:Vwa8	UTSW	14	79,184,629 (GRCm39)	missense	probably benign
R0602:Vwa8	UTSW	14	79,258,060 (GRCm39)	missense	probably benign	0.00
R0615:Vwa8	UTSW	14	79,145,590 (GRCm39)	missense	probably benign
R0791:Vwa8	UTSW	14	79,232,016 (GRCm39)	splice site	probably benign
R1028:Vwa8	UTSW	14	79,145,670 (GRCm39)	missense	probably damaging	1.00
R1037:Vwa8	UTSW	14	79,324,094 (GRCm39)	nonsense	probably null
R1404:Vwa8	UTSW	14	79,263,471 (GRCm39)	missense	probably damaging	1.00
R1404:Vwa8	UTSW	14	79,263,471 (GRCm39)	missense	probably damaging	1.00
R1412:Vwa8	UTSW	14	79,145,670 (GRCm39)	missense	probably damaging	1.00
R1421:Vwa8	UTSW	14	79,145,670 (GRCm39)	missense	probably damaging	1.00
R1467:Vwa8	UTSW	14	79,341,134 (GRCm39)	nonsense	probably null
R1467:Vwa8	UTSW	14	79,341,134 (GRCm39)	nonsense	probably null
R1539:Vwa8	UTSW	14	79,300,002 (GRCm39)	missense	probably benign	0.00
R1556:Vwa8	UTSW	14	79,324,121 (GRCm39)	missense	probably benign
R1589:Vwa8	UTSW	14	79,145,670 (GRCm39)	missense	probably damaging	1.00
R1590:Vwa8	UTSW	14	79,145,670 (GRCm39)	missense	probably damaging	1.00
R1591:Vwa8	UTSW	14	79,145,670 (GRCm39)	missense	probably damaging	1.00
R1645:Vwa8	UTSW	14	79,420,427 (GRCm39)	missense	probably damaging	1.00
R1673:Vwa8	UTSW	14	79,145,670 (GRCm39)	missense	probably damaging	1.00
R1688:Vwa8	UTSW	14	79,438,543 (GRCm39)	missense	possibly damaging	0.72
R1764:Vwa8	UTSW	14	79,145,635 (GRCm39)	missense	probably damaging	1.00
R1830:Vwa8	UTSW	14	79,318,576 (GRCm39)	missense	probably benign	0.04
R1926:Vwa8	UTSW	14	79,258,075 (GRCm39)	missense	probably benign	0.00
R1959:Vwa8	UTSW	14	79,219,800 (GRCm39)	missense	possibly damaging	0.95
R1971:Vwa8	UTSW	14	79,162,694 (GRCm39)	splice site	probably benign
R2078:Vwa8	UTSW	14	79,145,597 (GRCm39)	missense	probably damaging	1.00
R2103:Vwa8	UTSW	14	79,145,670 (GRCm39)	missense	probably damaging	1.00
R2230:Vwa8	UTSW	14	79,329,843 (GRCm39)	critical splice donor site	probably null
R2281:Vwa8	UTSW	14	79,302,436 (GRCm39)	missense	possibly damaging	0.91
R2313:Vwa8	UTSW	14	79,149,658 (GRCm39)	missense	probably damaging	0.98
R2847:Vwa8	UTSW	14	79,184,582 (GRCm39)	missense	probably benign	0.00
R2848:Vwa8	UTSW	14	79,184,582 (GRCm39)	missense	probably benign	0.00
R2894:Vwa8	UTSW	14	79,275,578 (GRCm39)	missense	probably damaging	1.00
R2991:Vwa8	UTSW	14	79,232,589 (GRCm39)	missense	probably benign	0.00
R3077:Vwa8	UTSW	14	79,335,782 (GRCm39)	missense	probably benign	0.03
R3405:Vwa8	UTSW	14	79,401,660 (GRCm39)	splice site	probably benign
R3406:Vwa8	UTSW	14	79,401,660 (GRCm39)	splice site	probably benign
R3708:Vwa8	UTSW	14	79,300,136 (GRCm39)	splice site	probably benign
R3779:Vwa8	UTSW	14	79,339,762 (GRCm39)	splice site	probably benign
R3799:Vwa8	UTSW	14	79,302,336 (GRCm39)	missense	probably damaging	0.99
R4230:Vwa8	UTSW	14	79,320,292 (GRCm39)	missense	probably benign	0.00
R4425:Vwa8	UTSW	14	79,320,246 (GRCm39)	missense	probably benign	0.00
R4478:Vwa8	UTSW	14	79,106,241 (GRCm39)	missense	probably benign	0.00
R4627:Vwa8	UTSW	14	79,341,137 (GRCm39)	critical splice donor site	probably null
R4835:Vwa8	UTSW	14	79,172,053 (GRCm39)	missense	probably benign	0.11
R4868:Vwa8	UTSW	14	79,420,522 (GRCm39)	missense	probably damaging	1.00
R4988:Vwa8	UTSW	14	79,435,723 (GRCm39)	missense	probably benign	0.05
R5137:Vwa8	UTSW	14	79,302,342 (GRCm39)	missense	probably damaging	1.00
R5156:Vwa8	UTSW	14	79,221,666 (GRCm39)	missense	probably benign	0.00
R5658:Vwa8	UTSW	14	79,219,838 (GRCm39)	critical splice donor site	probably null
R5841:Vwa8	UTSW	14	79,231,958 (GRCm39)	missense	probably benign
R6057:Vwa8	UTSW	14	79,320,313 (GRCm39)	missense	probably benign	0.21
R6244:Vwa8	UTSW	14	79,324,102 (GRCm39)	missense	probably benign
R6264:Vwa8	UTSW	14	79,324,252 (GRCm39)	missense	possibly damaging	0.64
R6290:Vwa8	UTSW	14	79,331,772 (GRCm39)	splice site	probably null
R6332:Vwa8	UTSW	14	79,434,904 (GRCm39)	missense	probably benign
R6395:Vwa8	UTSW	14	79,331,184 (GRCm39)	missense	probably benign	0.02
R6472:Vwa8	UTSW	14	79,246,610 (GRCm39)	missense	possibly damaging	0.71
R6497:Vwa8	UTSW	14	79,333,841 (GRCm39)	missense	probably benign	0.00
R6527:Vwa8	UTSW	14	79,184,653 (GRCm39)	missense	possibly damaging	0.73
R6552:Vwa8	UTSW	14	79,435,662 (GRCm39)	missense	possibly damaging	0.80
R6812:Vwa8	UTSW	14	79,434,859 (GRCm39)	missense	probably damaging	0.99
R6994:Vwa8	UTSW	14	79,145,596 (GRCm39)	missense	possibly damaging	0.90
R7040:Vwa8	UTSW	14	79,149,645 (GRCm39)	missense	probably damaging	1.00
R7357:Vwa8	UTSW	14	79,275,641 (GRCm39)	missense	probably null	1.00
R7363:Vwa8	UTSW	14	79,256,147 (GRCm39)	missense	probably benign	0.05
R7381:Vwa8	UTSW	14	79,333,125 (GRCm39)	missense	probably benign	0.00
R7406:Vwa8	UTSW	14	79,219,674 (GRCm39)	critical splice acceptor site	probably null
R7408:Vwa8	UTSW	14	79,219,674 (GRCm39)	critical splice acceptor site	probably null
R7409:Vwa8	UTSW	14	79,219,674 (GRCm39)	critical splice acceptor site	probably null
R7410:Vwa8	UTSW	14	79,219,674 (GRCm39)	critical splice acceptor site	probably null
R7483:Vwa8	UTSW	14	79,219,674 (GRCm39)	critical splice acceptor site	probably null
R7484:Vwa8	UTSW	14	79,219,674 (GRCm39)	critical splice acceptor site	probably null
R7491:Vwa8	UTSW	14	79,320,254 (GRCm39)	missense	probably benign	0.24
R7500:Vwa8	UTSW	14	79,162,686 (GRCm39)	splice site	probably null
R7514:Vwa8	UTSW	14	79,219,674 (GRCm39)	critical splice acceptor site	probably null
R7582:Vwa8	UTSW	14	79,219,674 (GRCm39)	critical splice acceptor site	probably null
R7584:Vwa8	UTSW	14	79,219,674 (GRCm39)	critical splice acceptor site	probably null
R7585:Vwa8	UTSW	14	79,219,674 (GRCm39)	critical splice acceptor site	probably null
R7647:Vwa8	UTSW	14	79,172,669 (GRCm39)	missense	probably damaging	0.99
R7685:Vwa8	UTSW	14	79,335,740 (GRCm39)	missense	probably benign
R7703:Vwa8	UTSW	14	79,263,513 (GRCm39)	missense	probably damaging	1.00
R7730:Vwa8	UTSW	14	79,232,589 (GRCm39)	missense	probably benign	0.00
R7775:Vwa8	UTSW	14	79,275,587 (GRCm39)	missense	probably benign	0.03
R7778:Vwa8	UTSW	14	79,275,587 (GRCm39)	missense	probably benign	0.03
R7824:Vwa8	UTSW	14	79,275,587 (GRCm39)	missense	probably benign	0.03
R7885:Vwa8	UTSW	14	79,258,089 (GRCm39)	missense	probably benign	0.00
R7902:Vwa8	UTSW	14	79,329,731 (GRCm39)	missense	probably benign	0.00
R8262:Vwa8	UTSW	14	79,171,272 (GRCm39)	critical splice donor site	probably null
R8458:Vwa8	UTSW	14	79,302,332 (GRCm39)	missense	probably damaging	1.00
R8495:Vwa8	UTSW	14	79,174,617 (GRCm39)	nonsense	probably null
R8557:Vwa8	UTSW	14	79,246,649 (GRCm39)	missense	probably damaging	1.00
R8841:Vwa8	UTSW	14	79,184,702 (GRCm39)	missense	probably benign	0.04
R8906:Vwa8	UTSW	14	79,329,815 (GRCm39)	missense	probably benign	0.00
R8947:Vwa8	UTSW	14	79,438,552 (GRCm39)	missense	probably damaging	1.00
R9034:Vwa8	UTSW	14	79,296,179 (GRCm39)	missense	probably damaging	1.00
R9051:Vwa8	UTSW	14	79,324,150 (GRCm39)	missense	probably benign	0.00
R9179:Vwa8	UTSW	14	79,335,801 (GRCm39)	missense	probably benign
R9433:Vwa8	UTSW	14	79,335,871 (GRCm39)	critical splice donor site	probably null
R9455:Vwa8	UTSW	14	79,300,115 (GRCm39)	missense	probably damaging	1.00
R9496:Vwa8	UTSW	14	79,258,122 (GRCm39)	missense	probably benign
R9530:Vwa8	UTSW	14	79,172,639 (GRCm39)	missense	probably benign	0.33
R9584:Vwa8	UTSW	14	79,394,549 (GRCm39)	missense	probably benign
R9763:Vwa8	UTSW	14	79,186,988 (GRCm39)	missense	probably damaging	1.00
Z1088:Vwa8	UTSW	14	79,219,686 (GRCm39)	missense	probably benign	0.38
Z1177:Vwa8	UTSW	14	79,296,132 (GRCm39)	missense	probably damaging	1.00

Posted On

2013-06-21