Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02430:Vwa8'

293115

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 #

IGL02430

Quality Score

Status

Chromosome

Chromosomal Location

79086492-79439750 bp(+) (GRCm39)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

T to C at 79172085 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000154270 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000040990] [ENSMUST00000227255]

AlphaFold

Q8CC88

Predicted Effect

probably null
Transcript: ENSMUST00000040990

SMART Domains

Protein: ENSMUSP00000048925
Gene: ENSMUSG00000058997

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

probably null
Transcript: ENSMUST00000227255

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000228884

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Arhgap33	T	C	7: 30,222,185 (GRCm39)	E1249G	probably benign	Het
C8a	G	A	4: 104,674,719 (GRCm39)	T540I	probably damaging	Het
Clcnkb	C	A	4: 141,136,701 (GRCm39)	W388L	possibly damaging	Het
Cnbp	A	T	6: 87,822,160 (GRCm39)	Y114*	probably null	Het
Col13a1	A	G	10: 61,710,530 (GRCm39)	V337A	probably benign	Het
Cyp2e1	A	G	7: 140,350,139 (GRCm39)	K275E	probably damaging	Het
Dchs1	A	G	7: 105,421,178 (GRCm39)	V414A	probably benign	Het
Ebf1	G	A	11: 44,815,403 (GRCm39)		probably null	Het
Gabbr1	C	T	17: 37,367,200 (GRCm39)	R198*	probably null	Het
Gpaa1	T	C	15: 76,216,388 (GRCm39)	S36P	possibly damaging	Het
Hipk1	A	G	3: 103,667,971 (GRCm39)	V532A	probably damaging	Het
Klhl18	A	T	9: 110,266,469 (GRCm39)	C217S	probably benign	Het
Lmntd1	T	A	6: 145,359,140 (GRCm39)	T191S	probably benign	Het
Ltbp2	T	A	12: 84,846,175 (GRCm39)	Y925F	probably damaging	Het
Lvrn	A	G	18: 47,027,797 (GRCm39)	I871V	probably benign	Het
Mrgprb1	A	G	7: 48,097,409 (GRCm39)	S168P	possibly damaging	Het
Or11g24	A	G	14: 50,662,608 (GRCm39)	I211V	probably benign	Het
Or5p70	A	T	7: 107,994,929 (GRCm39)	I201F	probably benign	Het
Pcnx1	T	A	12: 81,966,096 (GRCm39)	N754K	possibly damaging	Het
Plaa	A	T	4: 94,470,810 (GRCm39)	M442K	probably benign	Het
Pole3	T	C	4: 62,443,056 (GRCm39)	N28S	possibly damaging	Het
Pramel18	A	G	4: 101,767,477 (GRCm39)	Y242C	probably benign	Het
Prlr	A	G	15: 10,325,477 (GRCm39)	K4E	probably damaging	Het
Rp1l1	A	T	14: 64,266,735 (GRCm39)	T774S	probably benign	Het
Selp	C	A	1: 163,953,952 (GRCm39)	P84Q	probably damaging	Het
Sh3bp4	T	A	1: 89,080,885 (GRCm39)	W901R	probably null	Het
Slc6a20b	A	G	9: 123,426,305 (GRCm39)	Y527H	probably damaging	Het
Slit3	T	A	11: 35,068,601 (GRCm39)		probably null	Het
Spidr	C	T	16: 15,932,774 (GRCm39)	D169N	probably damaging	Het
Sstr2	T	C	11: 113,515,630 (GRCm39)	L183P	probably damaging	Het
Tmem62	C	T	2: 120,817,143 (GRCm39)	T233I	probably damaging	Het
Uba7	A	G	9: 107,856,667 (GRCm39)		probably benign	Het
Ubc	A	T	5: 125,464,634 (GRCm39)	I231N	probably damaging	Het
Ubl3	A	T	5: 148,488,766 (GRCm39)	D8E	probably benign	Het
Unc5a	A	G	13: 55,150,295 (GRCm39)	I465M	probably damaging	Het
Vmn2r106	A	G	17: 20,499,158 (GRCm39)	I251T	probably benign	Het
Washc5	A	G	15: 59,238,140 (GRCm39)	Y195H	probably damaging	Het
Wdr27	A	C	17: 15,122,062 (GRCm39)	S615A	probably damaging	Het
Zfp160	T	A	17: 21,245,792 (GRCm39)	L114H	possibly damaging	Het
Zfp523	T	C	17: 28,414,113 (GRCm39)		probably benign	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
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

2015-04-16