Mutagenetix > Incidental Mutation

Incidental Mutation 'R4425:Vwa8'

328127

Institutional Source

Beutler Lab

Gene Symbol

Vwa8

Ensembl Gene

ENSMUSG00000058997

Gene Name

von Willebrand factor A domain containing 8

Synonyms

1300010F03Rik, 4932416F07Rik

MMRRC Submission

041144-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4425 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

79086492-79439750 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 79320246 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 1086 (I1086V)

Ref Sequence

ENSEMBL: ENSMUSP00000048925 (fasta)

Gene Model

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

AlphaFold

Q8CC88

Predicted Effect

probably benign
Transcript: ENSMUST00000040990
AA Change: I1086V

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000048925
Gene: ENSMUSG00000058997
AA Change: I1086V

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

Meta Mutation Damage Score

0.0581

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.3%

Validation Efficiency

98% (55/56)

Allele List at MGI

Other mutations in this stock

Total: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc3	T	C	11: 94,236,870 (GRCm39)	T1456A	probably damaging	Het
Acad11	T	C	9: 103,950,844 (GRCm39)	F56S	probably damaging	Het
Adamts8	A	G	9: 30,867,952 (GRCm39)	N592S	possibly damaging	Het
Amh	A	G	10: 80,642,755 (GRCm39)	D313G	probably damaging	Het
Ampd2	T	C	3: 107,994,052 (GRCm39)		probably benign	Het
Arap3	A	G	18: 38,111,653 (GRCm39)	L1115P	probably damaging	Het
Arfgap1	C	A	2: 180,622,869 (GRCm39)	D327E	probably benign	Het
Capns2	T	A	8: 93,628,252 (GRCm39)	I47N	possibly damaging	Het
Cd163	T	C	6: 124,304,862 (GRCm39)	S1080P	possibly damaging	Het
Ceacam10	A	T	7: 24,480,433 (GRCm39)	Y68F	possibly damaging	Het
Cep44	G	A	8: 56,991,652 (GRCm39)	P317S	probably benign	Het
Cfh	A	T	1: 140,028,613 (GRCm39)	Y688*	probably null	Het
Chrnb1	A	T	11: 69,677,773 (GRCm39)	S326R	probably damaging	Het
Cngb1	C	T	8: 96,026,344 (GRCm39)	V25M	probably damaging	Het
Cyp2c50	A	T	19: 40,079,136 (GRCm39)	N160Y	possibly damaging	Het
Dalrd3	T	C	9: 108,448,800 (GRCm39)		probably benign	Het
Eef1d	C	A	15: 75,774,648 (GRCm39)	S253I	possibly damaging	Het
Efl1	G	A	7: 82,412,491 (GRCm39)	C960Y	probably damaging	Het
Elmo1	C	G	13: 20,784,382 (GRCm39)	Y646*	probably null	Het
Epb41l2	C	A	10: 25,382,078 (GRCm39)	D701E	possibly damaging	Het
Fbxl4	T	A	4: 22,422,699 (GRCm39)		probably null	Het
Fhod1	T	C	8: 106,063,983 (GRCm39)		probably benign	Het
Gm8741	G	T	17: 35,555,062 (GRCm39)		noncoding transcript	Het
Igkv10-95	A	T	6: 68,657,606 (GRCm39)	I21F	probably damaging	Het
Il10rb	C	A	16: 91,204,603 (GRCm39)	N51K	possibly damaging	Het
Krt78	T	C	15: 101,856,375 (GRCm39)	T479A	probably benign	Het
Lrig3	T	C	10: 125,849,273 (GRCm39)	S998P	probably benign	Het
Lrrc8c	T	A	5: 105,755,755 (GRCm39)	M510K	probably benign	Het
Nfrkb	G	T	9: 31,311,258 (GRCm39)	C369F	probably damaging	Het
Nphp1	T	C	2: 127,630,719 (GRCm39)	E19G	possibly damaging	Het
Or10a5	A	C	7: 106,635,698 (GRCm39)	E112A	probably damaging	Het
Or4f14b	T	C	2: 111,775,534 (GRCm39)	H89R	probably benign	Het
Ovol3	A	T	7: 29,934,789 (GRCm39)		probably null	Het
Ppp1r16b	C	T	2: 158,599,174 (GRCm39)	T382I	probably benign	Het
Rims2	T	C	15: 39,301,320 (GRCm39)		probably null	Het
Sh3rf3	T	C	10: 58,919,398 (GRCm39)	V505A	probably benign	Het
Shkbp1	T	C	7: 27,042,727 (GRCm39)	N570S	probably benign	Het
Slc35f4	C	T	14: 49,556,307 (GRCm39)	V149I	possibly damaging	Het
Snx27	A	G	3: 94,469,330 (GRCm39)	F4L	probably benign	Het
Syvn1	C	T	19: 6,099,951 (GRCm39)		probably benign	Het
Tagap1	G	A	17: 7,223,511 (GRCm39)	S395L	probably benign	Het
Tcstv2b	C	A	13: 120,373,908 (GRCm39)	L127F	probably damaging	Het
Tek	A	G	4: 94,751,904 (GRCm39)	T1014A	probably damaging	Het
Top2a	A	G	11: 98,892,231 (GRCm39)	I1077T	probably benign	Het
Tpo	T	C	12: 30,154,015 (GRCm39)	Y230C	probably damaging	Het
Trav12-2	A	G	14: 53,854,332 (GRCm39)	Q102R	possibly damaging	Het
Ttn	G	A	2: 76,733,430 (GRCm39)		probably benign	Het
Vmn1r183	A	T	7: 23,754,973 (GRCm39)	I259F	probably benign	Het
Vmn1r228	T	C	17: 20,996,861 (GRCm39)	E219G	probably damaging	Het
Vsig8	G	T	1: 172,390,714 (GRCm39)	G254V	probably damaging	Het
Zfp423	G	A	8: 88,509,601 (GRCm39)	H123Y	probably damaging	Het
Zfp811	A	T	17: 33,016,521 (GRCm39)	C506*	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
IGL01137:Vwa8	APN	14	79,341,087 (GRCm39)	missense	probably damaging	1.00
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
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

Predicted Primers

PCR Primer
(F):5'- GCACTCATGAAGGTAAGCATATGG -3'
(R):5'- ACCGTGTCTCTCACAGAGTTC -3'

Sequencing Primer
(F):5'- GAACAGCTGTTTTAGCGAC -3'
(R):5'- CACAGAGTTCTTGATGCCTCAGG -3'

Posted On

2015-07-07