Mutagenetix > Incidental Mutation

Incidental Mutation 'R2230:Vwa8'

240012

Institutional Source

Beutler Lab

Gene Symbol

Vwa8

Ensembl Gene

ENSMUSG00000058997

Gene Name

von Willebrand factor A domain containing 8

Synonyms

1300010F03Rik, 4932416F07Rik

MMRRC Submission

040231-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2230 (G1)

Quality Score

225

Status

Validated

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 79329843 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000048925 (fasta)

Gene Model

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

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

Meta Mutation Damage Score

0.9494

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.0%

Validation Efficiency

100% (62/62)

Allele List at MGI

Other mutations in this stock

Total: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam12	A	T	7: 133,521,347 (GRCm39)	N280K	probably damaging	Het
Adgrf4	C	T	17: 42,977,789 (GRCm39)	R518Q	possibly damaging	Het
Ankra2	T	C	13: 98,407,646 (GRCm39)	F199L	probably damaging	Het
Ankrd63	A	G	2: 118,533,846 (GRCm39)		probably benign	Het
Apoa2	A	G	1: 171,053,340 (GRCm39)	K53R	probably benign	Het
Atr	A	G	9: 95,802,818 (GRCm39)	R1827G	probably damaging	Het
Ccdc61	T	C	7: 18,625,032 (GRCm39)	E502G	probably damaging	Het
Ccn2	T	A	10: 24,472,371 (GRCm39)	M138K	possibly damaging	Het
Cdon	T	C	9: 35,403,222 (GRCm39)		probably null	Het
Cyp2c68	T	A	19: 39,687,804 (GRCm39)	S398C	probably benign	Het
Cyp2e1	T	C	7: 140,344,827 (GRCm39)	S98P	probably damaging	Het
Dock2	T	A	11: 34,244,323 (GRCm39)	I1036F	probably damaging	Het
Entpd7	T	C	19: 43,710,255 (GRCm39)	V304A	probably benign	Het
Entrep2	G	A	7: 64,408,970 (GRCm39)	H475Y	probably damaging	Het
Ergic3	A	G	2: 155,859,736 (GRCm39)	T346A	probably damaging	Het
F2	T	C	2: 91,456,102 (GRCm39)	D553G	probably benign	Het
Fam227a	T	A	15: 79,499,582 (GRCm39)	Y591F	possibly damaging	Het
Gal3st1	T	C	11: 3,948,282 (GRCm39)	I163T	probably benign	Het
Gm10650	A	G	3: 127,833,412 (GRCm39)		noncoding transcript	Het
Gm21850	G	T	2: 153,900,248 (GRCm39)	V202L	probably benign	Het
Hdc	T	A	2: 126,435,938 (GRCm39)	E644D	possibly damaging	Het
Hypk	G	A	2: 121,287,773 (GRCm39)		probably null	Het
Kif21a	G	A	15: 90,869,565 (GRCm39)	Q429*	probably null	Het
Mgll	G	A	6: 88,802,714 (GRCm39)	V318M	possibly damaging	Het
Mrgprb3	T	C	7: 48,292,770 (GRCm39)	I260M	probably benign	Het
Musk	A	T	4: 58,333,672 (GRCm39)	I256F	possibly damaging	Het
Myl3	T	C	9: 110,596,979 (GRCm39)	L113P	probably damaging	Het
Myo5c	A	G	9: 75,180,888 (GRCm39)	D759G	probably benign	Het
Nkx2-1	G	A	12: 56,580,071 (GRCm39)	Q290*	probably null	Het
Oaz3	T	C	3: 94,341,846 (GRCm39)	T130A	probably benign	Het
Or10j7	A	G	1: 173,011,182 (GRCm39)	I273T	probably benign	Het
Or4c3d	A	T	2: 89,882,569 (GRCm39)	F33Y	probably benign	Het
Or7g16	A	G	9: 18,727,021 (GRCm39)	S190P	probably damaging	Het
Or8c13	T	C	9: 38,091,442 (GRCm39)	T226A	probably benign	Het
Pabpc2	G	A	18: 39,908,123 (GRCm39)	V463I	probably benign	Het
Piezo2	A	T	18: 63,278,143 (GRCm39)	C254S	probably damaging	Het
Plxnd1	C	A	6: 115,941,105 (GRCm39)	R1302L	probably damaging	Het
Pnpla7	T	C	2: 24,941,610 (GRCm39)		probably benign	Het
Ppl	G	A	16: 4,906,845 (GRCm39)	T1150I	possibly damaging	Het
Prkag2	G	T	5: 25,113,362 (GRCm39)	A113E	probably benign	Het
Proz	A	G	8: 13,113,356 (GRCm39)	Y59C	probably damaging	Het
Prr5	T	C	15: 84,586,981 (GRCm39)	S244P	probably benign	Het
Sec14l5	A	G	16: 4,994,345 (GRCm39)	T380A	probably damaging	Het
Snw1	A	G	12: 87,499,428 (GRCm39)	V391A	probably benign	Het
Sp2	C	T	11: 96,846,762 (GRCm39)	C527Y	probably damaging	Het
Sspo	A	G	6: 48,425,606 (GRCm39)	I76V	probably damaging	Het
Sspo	C	A	6: 48,477,437 (GRCm39)	Q5123K	probably benign	Het
Tbc1d21	A	C	9: 58,270,363 (GRCm39)	N137K	probably damaging	Het
Tek	G	A	4: 94,699,573 (GRCm39)	C317Y	probably damaging	Het
Tet3	T	C	6: 83,346,453 (GRCm39)	D1328G	probably damaging	Het
Topbp1	T	A	9: 103,223,047 (GRCm39)	I1377N	probably damaging	Het
Trmt9b	T	A	8: 36,979,707 (GRCm39)	C437S	probably damaging	Het
Ttf2	A	G	3: 100,865,260 (GRCm39)	V544A	probably damaging	Het
Ttn	A	T	2: 76,774,497 (GRCm39)	F2136L	probably damaging	Het
Ugt2b38	A	G	5: 87,569,527 (GRCm39)	F267L	probably benign	Het
Usb1	T	G	8: 96,070,674 (GRCm39)	L200R	probably damaging	Het
Vwa5a	G	A	9: 38,645,174 (GRCm39)	G420R	probably null	Het
Zfp708	A	T	13: 67,219,036 (GRCm39)	Y229*	probably null	Het
Zzef1	T	A	11: 72,775,242 (GRCm39)	M1745K	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
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

Predicted Primers

PCR Primer
(F):5'- TCAGGTTCCTAGTCACTGCTG -3'
(R):5'- TATGCTGGATACTAAAGGAACCTCC -3'

Sequencing Primer
(F):5'- CAGGTTCCTAGTCACTGCTGTTTTTG -3'
(R):5'- GGAACCTCCTGCTATTTAACGTAC -3'

Posted On

2014-10-15