Mutagenetix > Incidental Mutation

Incidental Mutation 'R6179:Vwf'

487928

Institutional Source

Beutler Lab

Gene Symbol

Vwf

Ensembl Gene

ENSMUSG00000001930

Gene Name

Von Willebrand factor

Synonyms

B130011O06Rik, 6820430P06Rik

MMRRC Submission

044321-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.138) question?

Stock #

R6179 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

125529911-125663642 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 125626252 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Tyrosine at position 7 (C7Y)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000112254]

AlphaFold

no structure available at present

Predicted Effect

unknown
Transcript: ENSMUST00000112254
AA Change: C1946Y

SMART Domains

Protein: ENSMUSP00000107873
Gene: ENSMUSG00000001930
AA Change: C1946Y

Domain	Start	End	E-Value	Type
VWD	23	181	3.43e-35	SMART
C8	221	295	1.11e-21	SMART
Pfam:TIL	298	351	6.9e-15	PFAM
VWC	353	413	8.71e-1	SMART
VWD	380	543	2.93e-52	SMART
C8	580	652	3.82e-25	SMART
Pfam:TIL	655	710	4.1e-14	PFAM
EGF_like	790	825	4.37e1	SMART
VWC	832	901	3.29e-3	SMART
VWD	859	1015	5.15e-39	SMART
C8	1056	1130	1.01e-33	SMART
Pfam:TIL	1144	1199	1.3e-9	PFAM
VWA	1278	1461	1.81e-20	SMART
low complexity region	1464	1477	N/A	INTRINSIC
VWA	1499	1672	8.43e-39	SMART
VWA	1692	1875	2.83e-31	SMART
VWC	1882	1949	2.99e0	SMART
VWD	1941	2104	5.03e-42	SMART
C8	2135	2203	1.29e-13	SMART
Pfam:TIL	2206	2257	8.3e-8	PFAM
VWC	2260	2328	3.16e-16	SMART
low complexity region	2417	2428	N/A	INTRINSIC
VWC	2434	2497	2.61e-17	SMART
VWC	2513	2577	3.37e0	SMART
VWC	2585	2647	2.55e-11	SMART
CT	2730	2815	1.37e-31	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000141521

Predicted Effect

unknown
Transcript: ENSMUST00000147101
AA Change: C7Y

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.7%
20x: 93.5%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a glycoprotein involved in hemostasis. The encoded preproprotein is proteolytically processed following assembly into large multimeric complexes. These complexes function in the adhesion of platelets to sites of vascular injury and the transport of various proteins in the blood. Mutations in this gene result in von Willebrand disease, an inherited bleeding disorder. An unprocessed pseudogene has been found on chromosome 22. [provided by RefSeq, Oct 2015]
PHENOTYPE: Homozygous null mutants exhibit hemostatic and thrombotic defects similar to human von Willebrand disease. Mutants have prolonged bleeding time, newborns occasionally show fatal intra-abdominal bleeding and some adults have detectable fecal occult blood. [provided by MGI curators]

Allele List at MGI

All alleles(33) : Targeted, knock-out(1) Gene trapped(32)

Other mutations in this stock

Total: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930426L09Rik	T	C	2: 19,003,653 (GRCm39)		probably benign	Het
4930590J08Rik	T	C	6: 91,919,311 (GRCm39)	S657P	probably damaging	Het
Abca9	T	C	11: 110,025,080 (GRCm39)	I988V	probably benign	Het
Acte1	A	G	7: 143,425,524 (GRCm39)	T58A	probably benign	Het
Aox4	T	A	1: 58,270,662 (GRCm39)	D280E	probably benign	Het
Apob	T	A	12: 8,055,060 (GRCm39)	L1353*	probably null	Het
Atp2b1	C	T	10: 98,858,691 (GRCm39)	R222C	probably damaging	Het
AW209491	T	G	13: 14,811,668 (GRCm39)	S174A	possibly damaging	Het
B930094E09Rik	G	C	18: 31,742,911 (GRCm39)		probably benign	Het
Cbln3	G	T	14: 56,121,517 (GRCm39)	P43Q	possibly damaging	Het
Ccdc181	A	T	1: 164,107,487 (GRCm39)	T57S	probably benign	Het
Ccr2	A	C	9: 123,906,008 (GRCm39)	N96T	probably damaging	Het
Cep131	T	C	11: 119,956,837 (GRCm39)	I868V	probably benign	Het
Chd2	A	G	7: 73,094,071 (GRCm39)	I1535T	probably damaging	Het
Chl1	A	T	6: 103,660,204 (GRCm39)	T377S	probably benign	Het
Cpeb3	A	G	19: 37,065,853 (GRCm39)	F439L	probably damaging	Het
Crb2	T	C	2: 37,680,269 (GRCm39)	V399A	probably damaging	Het
Cry2	C	T	2: 92,244,187 (GRCm39)	G329R	probably damaging	Het
Dock4	A	G	12: 40,781,868 (GRCm39)	E691G	probably benign	Het
Edil3	A	T	13: 88,970,108 (GRCm39)	H3L	probably benign	Het
Endod1	T	C	9: 14,268,757 (GRCm39)	I243V	probably benign	Het
Fpr3	G	A	17: 18,190,919 (GRCm39)	W63*	probably null	Het
Gtse1	T	G	15: 85,753,158 (GRCm39)	N424K	possibly damaging	Het
Kcnt1	G	A	2: 25,783,192 (GRCm39)	V252M	probably damaging	Het
Kifbp	G	A	10: 62,399,029 (GRCm39)	Q130*	probably null	Het
Lmbrd2	T	G	15: 9,149,262 (GRCm39)	I48M	probably damaging	Het
Lrrc7	T	G	3: 158,059,069 (GRCm39)	I13L	probably damaging	Het
Mbd4	A	G	6: 115,822,386 (GRCm39)	S408P	probably benign	Het
Mphosph10	A	G	7: 64,028,529 (GRCm39)	V542A	possibly damaging	Het
Msto1	C	A	3: 88,818,254 (GRCm39)	R331L	probably damaging	Het
Myh10	G	A	11: 68,692,979 (GRCm39)	E1425K	probably damaging	Het
Nup43	T	C	10: 7,554,437 (GRCm39)	I340T	probably benign	Het
Or1j4	T	C	2: 36,740,846 (GRCm39)	S263P	possibly damaging	Het
Pcm1	T	A	8: 41,736,669 (GRCm39)	M884K	probably damaging	Het
Phf20	T	A	2: 156,140,573 (GRCm39)	L749H	probably damaging	Het
Pigp	T	C	16: 94,171,226 (GRCm39)	R22G	probably null	Het
Polr2b	T	C	5: 77,468,824 (GRCm39)	M200T	probably damaging	Het
Ppig	T	A	2: 69,580,471 (GRCm39)	D668E	unknown	Het
Prss3	G	A	6: 41,352,060 (GRCm39)	R68C	probably benign	Het
Retreg3	G	A	11: 100,994,721 (GRCm39)		probably benign	Het
Shank1	T	C	7: 44,006,630 (GRCm39)	F2116L	possibly damaging	Het
Spg21	T	C	9: 65,376,090 (GRCm39)	S33P	possibly damaging	Het
Spns3	A	G	11: 72,390,349 (GRCm39)	S432P	probably damaging	Het
Stra6	A	G	9: 58,042,452 (GRCm39)	E27G	probably damaging	Het
Tanc1	A	G	2: 59,673,320 (GRCm39)	Q1468R	probably benign	Het
Tbce	T	G	13: 14,194,362 (GRCm39)	E99A	probably benign	Het
Tmem106b	T	C	6: 13,084,252 (GRCm39)	V252A	probably damaging	Het
Trim10	A	G	17: 37,187,923 (GRCm39)	T380A	probably damaging	Het
Trim31	T	A	17: 37,220,501 (GRCm39)	D472E	probably damaging	Het
Vmn2r28	G	A	7: 5,491,003 (GRCm39)	Q415*	probably null	Het
Yeats2	C	T	16: 20,033,225 (GRCm39)	P1088L	probably benign	Het
Zfp40	C	A	17: 23,397,354 (GRCm39)	V48L	possibly damaging	Het

Other mutations in Vwf

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00489:Vwf	APN	6	125,635,835 (GRCm39)	missense	unknown
IGL00561:Vwf	APN	6	125,619,684 (GRCm39)	missense	possibly damaging	0.88
IGL01104:Vwf	APN	6	125,660,519 (GRCm39)	missense	probably damaging	1.00
IGL01404:Vwf	APN	6	125,654,933 (GRCm39)	missense	probably damaging	1.00
IGL01539:Vwf	APN	6	125,567,225 (GRCm39)	missense	possibly damaging	0.85
IGL01550:Vwf	APN	6	125,656,252 (GRCm39)	missense	probably benign	0.00
IGL01563:Vwf	APN	6	125,568,128 (GRCm39)	missense	probably damaging	1.00
IGL01637:Vwf	APN	6	125,622,699 (GRCm39)	missense	probably damaging	1.00
IGL01720:Vwf	APN	6	125,619,798 (GRCm39)	missense	possibly damaging	0.69
IGL01834:Vwf	APN	6	125,567,133 (GRCm39)	splice site	probably benign
IGL02103:Vwf	APN	6	125,623,318 (GRCm39)	missense	probably damaging	1.00
IGL02120:Vwf	APN	6	125,592,997 (GRCm39)	missense	probably benign	0.26
IGL02174:Vwf	APN	6	125,532,358 (GRCm39)	missense	probably damaging	1.00
IGL02203:Vwf	APN	6	125,619,369 (GRCm39)	missense	probably damaging	1.00
IGL02420:Vwf	APN	6	125,654,879 (GRCm39)	missense	probably benign	0.00
IGL02723:Vwf	APN	6	125,619,893 (GRCm39)	missense	possibly damaging	0.85
IGL02818:Vwf	APN	6	125,640,511 (GRCm39)	missense	probably benign
IGL02931:Vwf	APN	6	125,592,931 (GRCm39)	missense	possibly damaging	0.68
IGL03015:Vwf	APN	6	125,661,101 (GRCm39)	splice site	probably benign
IGL03038:Vwf	APN	6	125,581,120 (GRCm39)	missense	possibly damaging	0.92
IGL03060:Vwf	APN	6	125,640,523 (GRCm39)	missense	probably damaging	1.00
IGL03114:Vwf	APN	6	125,576,326 (GRCm39)	nonsense	probably null
IGL03266:Vwf	APN	6	125,655,040 (GRCm39)	splice site	probably benign
gingerman	UTSW	6	125,639,926 (GRCm39)	critical splice acceptor site	probably null
R0605_vwf_644	UTSW	6	125,662,800 (GRCm39)	missense	probably benign	0.02
R1575_Vwf_091	UTSW	6	125,640,534 (GRCm39)	nonsense	probably null
R1628_Vwf_608	UTSW	6	125,624,701 (GRCm39)	unclassified	probably benign
R1669_Vwf_448	UTSW	6	125,624,869 (GRCm39)	missense	possibly damaging	0.92
R1833_Vwf_948	UTSW	6	125,619,000 (GRCm39)	missense	probably benign	0.14
R2130_vwf_946	UTSW	6	125,634,020 (GRCm39)	missense	probably damaging	1.00
R6360_Vwf_065	UTSW	6	125,660,489 (GRCm39)	missense	probably benign	0.13
R7900_Vwf_938	UTSW	6	125,605,439 (GRCm39)	critical splice donor site	probably null
Russiahouse	UTSW	6	125,616,304 (GRCm39)	nonsense	probably null
B5639:Vwf	UTSW	6	125,619,947 (GRCm39)	missense	probably damaging	1.00
R0025:Vwf	UTSW	6	125,659,775 (GRCm39)	missense	probably benign	0.05
R0025:Vwf	UTSW	6	125,659,775 (GRCm39)	missense	probably benign	0.05
R0087:Vwf	UTSW	6	125,622,917 (GRCm39)	missense	probably benign	0.03
R0194:Vwf	UTSW	6	125,620,260 (GRCm39)	missense	probably benign
R0206:Vwf	UTSW	6	125,614,419 (GRCm39)	missense	probably damaging	1.00
R0233:Vwf	UTSW	6	125,663,473 (GRCm39)	missense	possibly damaging	0.91
R0233:Vwf	UTSW	6	125,663,473 (GRCm39)	missense	possibly damaging	0.91
R0390:Vwf	UTSW	6	125,603,324 (GRCm39)	nonsense	probably null
R0427:Vwf	UTSW	6	125,650,902 (GRCm39)	missense	probably benign
R0437:Vwf	UTSW	6	125,543,281 (GRCm39)	missense	probably damaging	1.00
R0470:Vwf	UTSW	6	125,605,391 (GRCm39)	missense	possibly damaging	0.70
R0499:Vwf	UTSW	6	125,615,077 (GRCm39)	missense	probably benign	0.10
R0554:Vwf	UTSW	6	125,619,744 (GRCm39)	missense	probably benign	0.13
R0605:Vwf	UTSW	6	125,662,800 (GRCm39)	missense	probably benign	0.02
R0711:Vwf	UTSW	6	125,603,234 (GRCm39)	missense	probably benign	0.01
R0723:Vwf	UTSW	6	125,543,225 (GRCm39)	missense	probably benign	0.01
R0973:Vwf	UTSW	6	125,619,969 (GRCm39)	missense	probably damaging	1.00
R1054:Vwf	UTSW	6	125,567,190 (GRCm39)	missense	probably damaging	1.00
R1115:Vwf	UTSW	6	125,632,028 (GRCm39)	missense	unknown
R1156:Vwf	UTSW	6	125,614,451 (GRCm39)	missense	probably damaging	1.00
R1191:Vwf	UTSW	6	125,576,215 (GRCm39)	missense	probably damaging	1.00
R1240:Vwf	UTSW	6	125,580,271 (GRCm39)	splice site	probably null
R1398:Vwf	UTSW	6	125,580,420 (GRCm39)	missense	probably benign	0.02
R1435:Vwf	UTSW	6	125,619,212 (GRCm39)	nonsense	probably null
R1528:Vwf	UTSW	6	125,585,254 (GRCm39)	missense	possibly damaging	0.69
R1575:Vwf	UTSW	6	125,640,534 (GRCm39)	nonsense	probably null
R1575:Vwf	UTSW	6	125,632,214 (GRCm39)	missense	unknown
R1628:Vwf	UTSW	6	125,624,701 (GRCm39)	unclassified	probably benign
R1669:Vwf	UTSW	6	125,624,869 (GRCm39)	missense	possibly damaging	0.92
R1699:Vwf	UTSW	6	125,662,863 (GRCm39)	missense	possibly damaging	0.74
R1699:Vwf	UTSW	6	125,620,032 (GRCm39)	missense	probably damaging	1.00
R1725:Vwf	UTSW	6	125,623,245 (GRCm39)	missense	probably benign	0.05
R1742:Vwf	UTSW	6	125,644,513 (GRCm39)	missense	probably benign	0.02
R1809:Vwf	UTSW	6	125,567,138 (GRCm39)	splice site	probably benign
R1833:Vwf	UTSW	6	125,619,000 (GRCm39)	missense	probably benign	0.14
R1866:Vwf	UTSW	6	125,644,492 (GRCm39)	missense	possibly damaging	0.62
R1870:Vwf	UTSW	6	125,619,902 (GRCm39)	missense	probably damaging	1.00
R1874:Vwf	UTSW	6	125,605,335 (GRCm39)	missense	probably benign	0.00
R1941:Vwf	UTSW	6	125,616,242 (GRCm39)	missense	possibly damaging	0.64
R2061:Vwf	UTSW	6	125,568,151 (GRCm39)	missense	probably damaging	0.98
R2103:Vwf	UTSW	6	125,623,293 (GRCm39)	missense	probably benign	0.31
R2104:Vwf	UTSW	6	125,623,293 (GRCm39)	missense	probably benign	0.31
R2130:Vwf	UTSW	6	125,634,020 (GRCm39)	missense	probably damaging	1.00
R2159:Vwf	UTSW	6	125,603,304 (GRCm39)	missense	probably damaging	0.99
R2178:Vwf	UTSW	6	125,619,095 (GRCm39)	missense	possibly damaging	0.90
R2656:Vwf	UTSW	6	125,532,324 (GRCm39)	missense	probably benign	0.00
R2913:Vwf	UTSW	6	125,662,809 (GRCm39)	missense	probably benign	0.08
R2917:Vwf	UTSW	6	125,585,106 (GRCm39)	missense	probably benign	0.07
R3726:Vwf	UTSW	6	125,654,911 (GRCm39)	utr 3 prime	probably benign
R3735:Vwf	UTSW	6	125,565,576 (GRCm39)	missense	probably damaging	1.00
R3774:Vwf	UTSW	6	125,626,062 (GRCm39)	splice site	probably null
R3934:Vwf	UTSW	6	125,532,462 (GRCm39)	missense	probably damaging	1.00
R4291:Vwf	UTSW	6	125,619,285 (GRCm39)	missense	probably damaging	1.00
R4384:Vwf	UTSW	6	125,632,079 (GRCm39)	missense	unknown
R4743:Vwf	UTSW	6	125,661,054 (GRCm39)	critical splice acceptor site	probably null
R4760:Vwf	UTSW	6	125,547,567 (GRCm39)	missense	probably damaging	1.00
R4776:Vwf	UTSW	6	125,543,268 (GRCm39)	missense	possibly damaging	0.53
R4791:Vwf	UTSW	6	125,620,326 (GRCm39)	missense
R4871:Vwf	UTSW	6	125,663,425 (GRCm39)	missense	probably benign	0.25
R4894:Vwf	UTSW	6	125,622,897 (GRCm39)	nonsense	probably null
R4963:Vwf	UTSW	6	125,644,446 (GRCm39)	nonsense	probably null
R5010:Vwf	UTSW	6	125,543,220 (GRCm39)	missense	probably benign	0.15
R5289:Vwf	UTSW	6	125,644,473 (GRCm39)	utr 3 prime	probably benign
R5512:Vwf	UTSW	6	125,650,850 (GRCm39)	utr 3 prime	probably benign
R5523:Vwf	UTSW	6	125,620,005 (GRCm39)	missense
R5642:Vwf	UTSW	6	125,580,381 (GRCm39)	missense
R5860:Vwf	UTSW	6	125,656,228 (GRCm39)	utr 3 prime	probably benign
R5860:Vwf	UTSW	6	125,620,053 (GRCm39)	missense
R5896:Vwf	UTSW	6	125,655,725 (GRCm39)	critical splice acceptor site	probably null
R5926:Vwf	UTSW	6	125,581,137 (GRCm39)	missense	probably damaging	1.00
R5976:Vwf	UTSW	6	125,580,426 (GRCm39)	missense
R6053:Vwf	UTSW	6	125,577,628 (GRCm39)	missense	probably benign	0.21
R6151:Vwf	UTSW	6	125,634,028 (GRCm39)	missense	unknown
R6181:Vwf	UTSW	6	125,543,109 (GRCm39)	missense	probably damaging	0.98
R6234:Vwf	UTSW	6	125,634,128 (GRCm39)	missense	unknown
R6360:Vwf	UTSW	6	125,660,489 (GRCm39)	missense	probably benign	0.13
R6412:Vwf	UTSW	6	125,656,279 (GRCm39)	missense	probably benign	0.00
R6464:Vwf	UTSW	6	125,616,363 (GRCm39)	critical splice donor site	probably null
R6522:Vwf	UTSW	6	125,639,926 (GRCm39)	critical splice acceptor site	probably null
R6766:Vwf	UTSW	6	125,616,339 (GRCm39)	missense	unknown
R6856:Vwf	UTSW	6	125,619,113 (GRCm39)	nonsense	probably null
R6877:Vwf	UTSW	6	125,634,164 (GRCm39)	missense	possibly damaging	0.48
R6896:Vwf	UTSW	6	125,543,157 (GRCm39)	missense	probably damaging	1.00
R7113:Vwf	UTSW	6	125,632,007 (GRCm39)	missense
R7287:Vwf	UTSW	6	125,614,430 (GRCm39)	missense
R7359:Vwf	UTSW	6	125,543,220 (GRCm39)	missense
R7509:Vwf	UTSW	6	125,619,132 (GRCm39)	missense
R7519:Vwf	UTSW	6	125,644,506 (GRCm39)	missense
R7545:Vwf	UTSW	6	125,591,060 (GRCm39)	missense
R7549:Vwf	UTSW	6	125,603,230 (GRCm39)	missense
R7593:Vwf	UTSW	6	125,624,731 (GRCm39)	missense
R7635:Vwf	UTSW	6	125,659,697 (GRCm39)	missense
R7793:Vwf	UTSW	6	125,663,483 (GRCm39)	missense
R7802:Vwf	UTSW	6	125,643,640 (GRCm39)	missense
R7824:Vwf	UTSW	6	125,635,778 (GRCm39)	missense
R7849:Vwf	UTSW	6	125,633,766 (GRCm39)	missense
R7900:Vwf	UTSW	6	125,605,439 (GRCm39)	critical splice donor site	probably null
R7919:Vwf	UTSW	6	125,624,822 (GRCm39)	missense
R7966:Vwf	UTSW	6	125,616,304 (GRCm39)	nonsense	probably null
R8101:Vwf	UTSW	6	125,547,522 (GRCm39)	nonsense	probably null
R8162:Vwf	UTSW	6	125,622,799 (GRCm39)	splice site	probably null
R8345:Vwf	UTSW	6	125,656,265 (GRCm39)	missense
R8853:Vwf	UTSW	6	125,634,227 (GRCm39)	missense
R9027:Vwf	UTSW	6	125,643,626 (GRCm39)	missense
R9065:Vwf	UTSW	6	125,623,262 (GRCm39)	missense
R9068:Vwf	UTSW	6	125,625,792 (GRCm39)	unclassified	probably benign
R9128:Vwf	UTSW	6	125,619,693 (GRCm39)	missense
R9136:Vwf	UTSW	6	125,576,356 (GRCm39)	splice site	probably benign
R9164:Vwf	UTSW	6	125,542,806 (GRCm39)	missense
R9177:Vwf	UTSW	6	125,581,254 (GRCm39)	missense
R9334:Vwf	UTSW	6	125,654,909 (GRCm39)	missense
R9508:Vwf	UTSW	6	125,532,471 (GRCm39)	missense
R9553:Vwf	UTSW	6	125,577,662 (GRCm39)	missense
R9660:Vwf	UTSW	6	125,568,670 (GRCm39)	missense	possibly damaging	0.61
R9706:Vwf	UTSW	6	125,601,536 (GRCm39)	missense
R9708:Vwf	UTSW	6	125,634,053 (GRCm39)	missense
R9712:Vwf	UTSW	6	125,601,536 (GRCm39)	missense
R9714:Vwf	UTSW	6	125,601,536 (GRCm39)	missense
R9728:Vwf	UTSW	6	125,568,670 (GRCm39)	missense	possibly damaging	0.61
R9758:Vwf	UTSW	6	125,603,230 (GRCm39)	missense
X0021:Vwf	UTSW	6	125,623,294 (GRCm39)	missense	probably damaging	1.00
X0065:Vwf	UTSW	6	125,580,396 (GRCm39)	missense	probably null	0.05
Z1176:Vwf	UTSW	6	125,580,271 (GRCm39)	splice site	probably null
Z1176:Vwf	UTSW	6	125,568,194 (GRCm39)	missense

Predicted Primers

PCR Primer
(F):5'- ATCTGGTGTGCCTTACCCTG -3'
(R):5'- TTATCCAGAGGAAGGAGTATCTCC -3'

Sequencing Primer
(F):5'- CTCTGTATATAGCCTGGGGATGTC -3'
(R):5'- CCAAGAGGGAAGGAGTGTACAGC -3'

Posted On

2017-10-10