Mutagenetix > Incidental Mutation

Incidental Mutation 'R7582:Vwa8'

586825

Institutional Source

Beutler Lab

Gene Symbol

Vwa8

Ensembl Gene

ENSMUSG00000058997

Gene Name

von Willebrand factor A domain containing 8

Synonyms

1300010F03Rik, 4932416F07Rik

MMRRC Submission

045665-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7582 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

79086492-79439750 bp(+) (GRCm39)

Type of Mutation

critical splice acceptor site

DNA Base Change (assembly)

A to C at 79219674 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000048925 (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

Meta Mutation Damage Score

0.9497

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgb	A	G	10: 10,266,565 (GRCm39)	V1007A	probably damaging	Het
Adgrl3	T	C	5: 81,841,523 (GRCm39)	V800A	probably damaging	Het
Ankfn1	T	A	11: 89,417,445 (GRCm39)	M56L	probably benign	Het
Arfgap3	A	C	15: 83,187,302 (GRCm39)	V72G	possibly damaging	Het
B3galnt2	C	T	13: 14,165,986 (GRCm39)	R294W	probably damaging	Het
Cadm1	G	T	9: 47,708,740 (GRCm39)	D157Y	probably damaging	Het
Castor1	T	C	11: 4,170,457 (GRCm39)	V151A	probably benign	Het
Ccdc81	A	T	7: 89,525,353 (GRCm39)	Y474N	probably damaging	Het
Cdkl4	T	A	17: 80,841,264 (GRCm39)	K297I	probably benign	Het
Cep128	G	A	12: 91,314,340 (GRCm39)	T146M	probably damaging	Het
Cfap161	T	C	7: 83,426,290 (GRCm39)	N236S	possibly damaging	Het
Chil3	A	T	3: 106,071,572 (GRCm39)	W31R	probably damaging	Het
Cmtm2b	C	T	8: 105,049,353 (GRCm39)	S86F	probably damaging	Het
Cntnap5a	G	A	1: 116,374,362 (GRCm39)	G958D	probably damaging	Het
Col6a5	A	G	9: 105,822,625 (GRCm39)	L244P	unknown	Het
Crat	C	T	2: 30,294,577 (GRCm39)	R497Q	probably benign	Het
Cul9	A	G	17: 46,821,905 (GRCm39)	Y1857H	probably damaging	Het
Dst	A	G	1: 34,208,964 (GRCm39)	Q1154R	probably damaging	Het
Fgg	G	A	3: 82,921,445 (GRCm39)	G376D	probably damaging	Het
Fmn2	T	C	1: 174,526,356 (GRCm39)	S1392P	probably damaging	Het
Focad	T	C	4: 88,147,615 (GRCm39)	V418A	probably benign	Het
Foxf1	A	T	8: 121,811,430 (GRCm39)	H98L	possibly damaging	Het
Frmd4a	C	CA	2: 4,599,408 (GRCm39)		probably null	Het
Fry	C	A	5: 150,419,847 (GRCm39)	T639K		Het
Fryl	A	G	5: 73,179,843 (GRCm39)		probably null	Het
Gdpd4	A	G	7: 97,607,012 (GRCm39)		probably null	Het
Gpt2	A	G	8: 86,246,145 (GRCm39)	K368R	probably damaging	Het
Hc	A	T	2: 34,881,278 (GRCm39)	V1447E	possibly damaging	Het
Kmt5a	A	G	5: 124,597,982 (GRCm39)	T280A	probably benign	Het
Lrrc4b	G	T	7: 44,111,234 (GRCm39)	V369L	probably benign	Het
Ly6g5c	A	G	17: 35,330,783 (GRCm39)	M102V	probably benign	Het
Malrd1	A	G	2: 15,700,081 (GRCm39)	S643G	unknown	Het
Mib2	T	C	4: 155,739,267 (GRCm39)	N904S	probably benign	Het
Mug2	G	A	6: 122,056,603 (GRCm39)	V1183I	probably damaging	Het
Nckap1l	C	T	15: 103,390,587 (GRCm39)	T786I	probably damaging	Het
Neb	T	C	2: 52,224,504 (GRCm39)		probably benign	Het
Neu3	A	G	7: 99,463,174 (GRCm39)	V183A	probably benign	Het
Nod1	A	G	6: 54,921,292 (GRCm39)	L342P	probably damaging	Het
Nop58	T	C	1: 59,740,097 (GRCm39)	V163A	probably damaging	Het
Npr3	C	T	15: 11,895,768 (GRCm39)	G293R	probably null	Het
Obscn	T	A	11: 58,952,253 (GRCm39)	K3939*	probably null	Het
Or4d10c	G	A	19: 12,065,370 (GRCm39)	A262V	probably benign	Het
Or4g16	T	A	2: 111,136,793 (GRCm39)	M81K	probably damaging	Het
Or5k16	A	T	16: 58,736,410 (GRCm39)	M198K	possibly damaging	Het
Or5p76	A	G	7: 108,123,058 (GRCm39)	I33T	probably benign	Het
Or8b12b	T	C	9: 37,684,117 (GRCm39)	L54P	probably damaging	Het
P2ry6	A	G	7: 100,587,784 (GRCm39)	Y192H	probably damaging	Het
Paxbp1	A	G	16: 90,819,555 (GRCm39)		probably null	Het
Pign	G	A	1: 105,577,092 (GRCm39)	T197I	probably benign	Het
Pirb	A	T	7: 3,716,817 (GRCm39)		probably null	Het
Pkdrej	C	A	15: 85,703,122 (GRCm39)	R938L	possibly damaging	Het
Psg21	A	G	7: 18,381,128 (GRCm39)	*472R	probably null	Het
Rabgap1l	A	T	1: 160,509,654 (GRCm39)	S474R	probably benign	Het
Rrn3	C	T	16: 13,628,375 (GRCm39)	Q519*	probably null	Het
Seh1l	A	T	18: 67,908,188 (GRCm39)	K37*	probably null	Het
Shprh	A	G	10: 11,040,449 (GRCm39)	S641G	probably benign	Het
Slc4a1	T	G	11: 102,243,403 (GRCm39)	S743R	probably damaging	Het
Snx13	C	T	12: 35,174,534 (GRCm39)	R688*	probably null	Het
Tlr11	C	T	14: 50,599,186 (GRCm39)	Q391*	probably null	Het
Tmbim4	A	G	10: 120,053,471 (GRCm39)	H90R	probably benign	Het
Trav8d-1	T	C	14: 53,016,326 (GRCm39)	S71P	possibly damaging	Het
Trbv5	G	A	6: 41,039,617 (GRCm39)	R74Q	probably benign	Het
Tril	A	G	6: 53,795,921 (GRCm39)	S434P	probably benign	Het
Uhmk1	A	G	1: 170,027,570 (GRCm39)	Y376H	probably damaging	Het
Uty	A	G	Y: 1,170,914 (GRCm39)	C317R	probably damaging	Het
Vmp1	C	T	11: 86,476,225 (GRCm39)	C377Y	probably benign	Het
Wdr41	T	C	13: 95,142,275 (GRCm39)	S150P	probably damaging	Het
Zfp617	T	A	8: 72,685,864 (GRCm39)	Y65N	probably benign	Het
Zfp800	A	C	6: 28,244,089 (GRCm39)	V292G	probably damaging	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
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
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'- GGGAAATACCTAAAGCTTTCTGG -3'
(R):5'- CCTCAGGACCTGAAATCTCAGTG -3'

Sequencing Primer
(F):5'- ACCTAAAGCTTTCTGGTGATATTTC -3'
(R):5'- CAGGACCTGAAATCTCAGTGTTTAGG -3'

Posted On

2019-10-24