Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02931:Vwf'

364093

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Vwf

Ensembl Gene

ENSMUSG00000001930

Gene Name

Von Willebrand factor

Synonyms

6820430P06Rik, B130011O06Rik

Accession Numbers

Genbank: NM_011708; MGI: 98941

Essential gene?

Probably non essential (E-score: 0.165) question?

Stock #

IGL02931

Quality Score

Status

Chromosome

Chromosomal Location

125546774-125686679 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 125615968 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Arginine at position 764 (S764R)

Ref Sequence

ENSEMBL: ENSMUSP00000107873 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

possibly damaging
Transcript: ENSMUST00000112254
AA Change: S764R

PolyPhen 2 Score 0.675 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000107873
Gene: ENSMUSG00000001930
AA Change: S764R

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: ENSMUST00000134073

Coding Region Coverage

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: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adcy1	G	A	11: 7,079,012 (GRCm38)	R254Q	probably benign	Het
Adgrv1	T	C	13: 81,579,714 (GRCm38)	Y269C	probably damaging	Het
Apol7a	C	A	15: 77,393,450 (GRCm38)	E33*	probably null	Het
Arhgap29	T	C	3: 121,992,860 (GRCm38)	V358A	probably benign	Het
B3galt1	T	C	2: 68,118,384 (GRCm38)	S148P	probably damaging	Het
BC061237	A	G	14: 44,503,322 (GRCm38)	N60D	possibly damaging	Het
Bcl9l	C	T	9: 44,500,750 (GRCm38)	P11L	probably damaging	Het
Ccdc89	A	C	7: 90,426,902 (GRCm38)	K107Q	probably benign	Het
Col27a1	T	C	4: 63,331,426 (GRCm38)		probably benign	Het
Col5a2	T	C	1: 45,385,065 (GRCm38)	D1067G	probably damaging	Het
Col9a2	A	T	4: 121,053,192 (GRCm38)	R511S	probably benign	Het
Disp3	G	A	4: 148,249,201 (GRCm38)	S1060F	possibly damaging	Het
Dusp8	T	C	7: 142,082,930 (GRCm38)	T308A	probably benign	Het
Ern1	T	C	11: 106,423,440 (GRCm38)	N178S	probably damaging	Het
Gas6	C	A	8: 13,477,136 (GRCm38)	C204F	probably damaging	Het
Gga1	T	C	15: 78,893,322 (GRCm38)	S558P	possibly damaging	Het
Gli1	T	C	10: 127,332,410 (GRCm38)	T525A	probably benign	Het
Gm428	G	A	4: 73,687,365 (GRCm38)	A338T	probably damaging	Het
Gse1	A	G	8: 120,578,069 (GRCm38)		probably benign	Het
Hmcn1	G	A	1: 150,657,207 (GRCm38)	S3075L	probably benign	Het
Hnf4a	G	A	2: 163,566,117 (GRCm38)		probably benign	Het
Htt	A	T	5: 34,876,753 (GRCm38)	E1894D	probably damaging	Het
Kcnh8	G	A	17: 52,956,622 (GRCm38)	E716K	probably benign	Het
Kntc1	A	G	5: 123,799,811 (GRCm38)	Y1524C	probably damaging	Het
Krtap9-5	A	G	11: 99,949,105 (GRCm38)	T211A	unknown	Het
Lin54	T	C	5: 100,480,321 (GRCm38)	I8V	possibly damaging	Het
Lipe	A	G	7: 25,383,335 (GRCm38)		probably benign	Het
Lpin2	T	A	17: 71,238,683 (GRCm38)	V508E	probably damaging	Het
Lrrc9	C	A	12: 72,454,149 (GRCm38)	H216Q	probably damaging	Het
Lrrn1	T	C	6: 107,567,748 (GRCm38)	L169P	probably damaging	Het
Map9	C	A	3: 82,377,121 (GRCm38)	T334K	possibly damaging	Het
Mst1	A	T	9: 108,084,642 (GRCm38)		probably null	Het
Mtor	T	A	4: 148,464,964 (GRCm38)	F602I	probably benign	Het
Mylpf	T	A	7: 127,213,626 (GRCm38)	D98E	probably benign	Het
Naca	C	A	10: 128,047,682 (GRCm38)	Q2059K	probably damaging	Het
Nefh	G	A	11: 4,941,356 (GRCm38)	T421I	possibly damaging	Het
Nlrp4g	T	A	9: 124,348,940 (GRCm38)		noncoding transcript	Het
Npat	C	T	9: 53,571,041 (GRCm38)	Q1350*	probably null	Het
Oaz3	T	C	3: 94,434,980 (GRCm38)	N123S	probably benign	Het
Patj	A	G	4: 98,411,173 (GRCm38)		probably benign	Het
Piezo1	A	C	8: 122,483,519 (GRCm38)	D2224E	probably damaging	Het
Pnpla7	A	T	2: 25,015,229 (GRCm38)	I610F	possibly damaging	Het
Psapl1	A	T	5: 36,204,889 (GRCm38)	D275V	probably damaging	Het
Ptpdc1	T	A	13: 48,590,619 (GRCm38)		probably benign	Het
Rac2	T	C	15: 78,570,747 (GRCm38)	E31G	possibly damaging	Het
Sdhc	T	C	1: 171,143,555 (GRCm38)		probably benign	Het
Smim23	G	T	11: 32,820,667 (GRCm38)	P80T	probably damaging	Het
Snupn	C	T	9: 56,957,080 (GRCm38)	T21I	probably benign	Het
Tjp2	A	G	19: 24,096,632 (GRCm38)	V1097A	probably benign	Het
Tmem8	T	A	17: 26,117,949 (GRCm38)	F280L	probably benign	Het
Ttc16	A	G	2: 32,771,927 (GRCm38)	Y164H	probably damaging	Het
Txlnb	A	G	10: 17,827,982 (GRCm38)	E296G	probably damaging	Het
Ube2l6	G	A	2: 84,802,851 (GRCm38)	V34M	probably damaging	Het
Zfand3	A	G	17: 30,192,637 (GRCm38)	S146G	probably benign	Het
Zfp280d	T	G	9: 72,296,025 (GRCm38)	F18L	probably benign	Het

Other mutations in Vwf

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00489:Vwf	APN	6	125,658,872 (GRCm38)	missense	unknown
IGL00561:Vwf	APN	6	125,642,721 (GRCm38)	missense	possibly damaging	0.88
IGL01104:Vwf	APN	6	125,683,556 (GRCm38)	missense	probably damaging	1.00
IGL01404:Vwf	APN	6	125,677,970 (GRCm38)	missense	probably damaging	1.00
IGL01539:Vwf	APN	6	125,590,262 (GRCm38)	missense	possibly damaging	0.85
IGL01550:Vwf	APN	6	125,679,289 (GRCm38)	missense	probably benign	0.00
IGL01563:Vwf	APN	6	125,591,165 (GRCm38)	missense	probably damaging	1.00
IGL01637:Vwf	APN	6	125,645,736 (GRCm38)	missense	probably damaging	1.00
IGL01720:Vwf	APN	6	125,642,835 (GRCm38)	missense	possibly damaging	0.69
IGL01834:Vwf	APN	6	125,590,170 (GRCm38)	splice site	probably benign
IGL02103:Vwf	APN	6	125,646,355 (GRCm38)	missense	probably damaging	1.00
IGL02120:Vwf	APN	6	125,616,034 (GRCm38)	missense	probably benign	0.26
IGL02174:Vwf	APN	6	125,555,395 (GRCm38)	missense	probably damaging	1.00
IGL02203:Vwf	APN	6	125,642,406 (GRCm38)	missense	probably damaging	1.00
IGL02420:Vwf	APN	6	125,677,916 (GRCm38)	missense	probably benign	0.00
IGL02723:Vwf	APN	6	125,642,930 (GRCm38)	missense	possibly damaging	0.85
IGL02818:Vwf	APN	6	125,663,548 (GRCm38)	missense	probably benign
IGL03015:Vwf	APN	6	125,684,138 (GRCm38)	splice site	probably benign
IGL03038:Vwf	APN	6	125,604,157 (GRCm38)	missense	possibly damaging	0.92
IGL03060:Vwf	APN	6	125,663,560 (GRCm38)	missense	probably damaging	1.00
IGL03114:Vwf	APN	6	125,599,363 (GRCm38)	nonsense	probably null
IGL03266:Vwf	APN	6	125,678,077 (GRCm38)	splice site	probably benign
gingerman	UTSW	6	125,662,963 (GRCm38)	critical splice acceptor site	probably null
R0605_vwf_644	UTSW	6	125,685,837 (GRCm38)	missense	probably benign	0.02
R1575_Vwf_091	UTSW	6	125,663,571 (GRCm38)	nonsense	probably null
R1628_Vwf_608	UTSW	6	125,647,738 (GRCm38)	unclassified	probably benign
R1669_Vwf_448	UTSW	6	125,647,906 (GRCm38)	missense	possibly damaging	0.92
R1833_Vwf_948	UTSW	6	125,642,037 (GRCm38)	missense	probably benign	0.14
R2130_vwf_946	UTSW	6	125,657,057 (GRCm38)	missense	probably damaging	1.00
R6360_Vwf_065	UTSW	6	125,683,526 (GRCm38)	missense	probably benign	0.13
R7900_Vwf_938	UTSW	6	125,628,476 (GRCm38)	critical splice donor site	probably null
Russiahouse	UTSW	6	125,639,341 (GRCm38)	nonsense	probably null
B5639:Vwf	UTSW	6	125,642,984 (GRCm38)	missense	probably damaging	1.00
R0025:Vwf	UTSW	6	125,682,812 (GRCm38)	missense	probably benign	0.05
R0025:Vwf	UTSW	6	125,682,812 (GRCm38)	missense	probably benign	0.05
R0087:Vwf	UTSW	6	125,645,954 (GRCm38)	missense	probably benign	0.03
R0194:Vwf	UTSW	6	125,643,297 (GRCm38)	missense	probably benign
R0206:Vwf	UTSW	6	125,637,456 (GRCm38)	missense	probably damaging	1.00
R0233:Vwf	UTSW	6	125,686,510 (GRCm38)	missense	possibly damaging	0.91
R0233:Vwf	UTSW	6	125,686,510 (GRCm38)	missense	possibly damaging	0.91
R0390:Vwf	UTSW	6	125,626,361 (GRCm38)	nonsense	probably null
R0427:Vwf	UTSW	6	125,673,939 (GRCm38)	missense	probably benign
R0437:Vwf	UTSW	6	125,566,318 (GRCm38)	missense	probably damaging	1.00
R0470:Vwf	UTSW	6	125,628,428 (GRCm38)	missense	possibly damaging	0.70
R0499:Vwf	UTSW	6	125,638,114 (GRCm38)	missense	probably benign	0.10
R0554:Vwf	UTSW	6	125,642,781 (GRCm38)	missense	probably benign	0.13
R0605:Vwf	UTSW	6	125,685,837 (GRCm38)	missense	probably benign	0.02
R0711:Vwf	UTSW	6	125,626,271 (GRCm38)	missense	probably benign	0.01
R0723:Vwf	UTSW	6	125,566,262 (GRCm38)	missense	probably benign	0.01
R0973:Vwf	UTSW	6	125,643,006 (GRCm38)	missense	probably damaging	1.00
R1054:Vwf	UTSW	6	125,590,227 (GRCm38)	missense	probably damaging	1.00
R1115:Vwf	UTSW	6	125,655,065 (GRCm38)	missense	unknown
R1156:Vwf	UTSW	6	125,637,488 (GRCm38)	missense	probably damaging	1.00
R1191:Vwf	UTSW	6	125,599,252 (GRCm38)	missense	probably damaging	1.00
R1240:Vwf	UTSW	6	125,603,308 (GRCm38)	splice site	probably null
R1398:Vwf	UTSW	6	125,603,457 (GRCm38)	missense	probably benign	0.02
R1435:Vwf	UTSW	6	125,642,249 (GRCm38)	nonsense	probably null
R1528:Vwf	UTSW	6	125,608,291 (GRCm38)	missense	possibly damaging	0.69
R1575:Vwf	UTSW	6	125,663,571 (GRCm38)	nonsense	probably null
R1575:Vwf	UTSW	6	125,655,251 (GRCm38)	missense	unknown
R1628:Vwf	UTSW	6	125,647,738 (GRCm38)	unclassified	probably benign
R1669:Vwf	UTSW	6	125,647,906 (GRCm38)	missense	possibly damaging	0.92
R1699:Vwf	UTSW	6	125,685,900 (GRCm38)	missense	possibly damaging	0.74
R1699:Vwf	UTSW	6	125,643,069 (GRCm38)	missense	probably damaging	1.00
R1725:Vwf	UTSW	6	125,646,282 (GRCm38)	missense	probably benign	0.05
R1742:Vwf	UTSW	6	125,667,550 (GRCm38)	missense	probably benign	0.02
R1809:Vwf	UTSW	6	125,590,175 (GRCm38)	splice site	probably benign
R1833:Vwf	UTSW	6	125,642,037 (GRCm38)	missense	probably benign	0.14
R1866:Vwf	UTSW	6	125,667,529 (GRCm38)	missense	possibly damaging	0.62
R1870:Vwf	UTSW	6	125,642,939 (GRCm38)	missense	probably damaging	1.00
R1874:Vwf	UTSW	6	125,628,372 (GRCm38)	missense	probably benign	0.00
R1941:Vwf	UTSW	6	125,639,279 (GRCm38)	missense	possibly damaging	0.64
R2061:Vwf	UTSW	6	125,591,188 (GRCm38)	missense	probably damaging	0.98
R2103:Vwf	UTSW	6	125,646,330 (GRCm38)	missense	probably benign	0.31
R2104:Vwf	UTSW	6	125,646,330 (GRCm38)	missense	probably benign	0.31
R2130:Vwf	UTSW	6	125,657,057 (GRCm38)	missense	probably damaging	1.00
R2159:Vwf	UTSW	6	125,626,341 (GRCm38)	missense	probably damaging	0.99
R2178:Vwf	UTSW	6	125,642,132 (GRCm38)	missense	possibly damaging	0.90
R2656:Vwf	UTSW	6	125,555,361 (GRCm38)	missense	probably benign	0.00
R2913:Vwf	UTSW	6	125,685,846 (GRCm38)	missense	probably benign	0.08
R2917:Vwf	UTSW	6	125,608,143 (GRCm38)	missense	probably benign	0.07
R3726:Vwf	UTSW	6	125,677,948 (GRCm38)	utr 3 prime	probably benign
R3735:Vwf	UTSW	6	125,588,613 (GRCm38)	missense	probably damaging	1.00
R3774:Vwf	UTSW	6	125,649,099 (GRCm38)	splice site	probably null
R3934:Vwf	UTSW	6	125,555,499 (GRCm38)	missense	probably damaging	1.00
R4291:Vwf	UTSW	6	125,642,322 (GRCm38)	missense	probably damaging	1.00
R4384:Vwf	UTSW	6	125,655,116 (GRCm38)	missense	unknown
R4743:Vwf	UTSW	6	125,684,091 (GRCm38)	critical splice acceptor site	probably null
R4760:Vwf	UTSW	6	125,570,604 (GRCm38)	missense	probably damaging	1.00
R4776:Vwf	UTSW	6	125,566,305 (GRCm38)	missense	possibly damaging	0.53
R4791:Vwf	UTSW	6	125,643,363 (GRCm38)	missense
R4871:Vwf	UTSW	6	125,686,462 (GRCm38)	missense	probably benign	0.25
R4894:Vwf	UTSW	6	125,645,934 (GRCm38)	nonsense	probably null
R4963:Vwf	UTSW	6	125,667,483 (GRCm38)	nonsense	probably null
R5010:Vwf	UTSW	6	125,566,257 (GRCm38)	missense	probably benign	0.15
R5289:Vwf	UTSW	6	125,667,510 (GRCm38)	utr 3 prime	probably benign
R5512:Vwf	UTSW	6	125,673,887 (GRCm38)	utr 3 prime	probably benign
R5523:Vwf	UTSW	6	125,643,042 (GRCm38)	missense
R5642:Vwf	UTSW	6	125,603,418 (GRCm38)	missense
R5860:Vwf	UTSW	6	125,679,265 (GRCm38)	utr 3 prime	probably benign
R5860:Vwf	UTSW	6	125,643,090 (GRCm38)	missense
R5896:Vwf	UTSW	6	125,678,762 (GRCm38)	critical splice acceptor site	probably null
R5926:Vwf	UTSW	6	125,604,174 (GRCm38)	missense	probably damaging	1.00
R5976:Vwf	UTSW	6	125,603,463 (GRCm38)	missense
R6053:Vwf	UTSW	6	125,600,665 (GRCm38)	missense	probably benign	0.21
R6151:Vwf	UTSW	6	125,657,065 (GRCm38)	missense	unknown
R6179:Vwf	UTSW	6	125,649,289 (GRCm38)	missense	unknown
R6181:Vwf	UTSW	6	125,566,146 (GRCm38)	missense	probably damaging	0.98
R6234:Vwf	UTSW	6	125,657,165 (GRCm38)	missense	unknown
R6360:Vwf	UTSW	6	125,683,526 (GRCm38)	missense	probably benign	0.13
R6412:Vwf	UTSW	6	125,679,316 (GRCm38)	missense	probably benign	0.00
R6464:Vwf	UTSW	6	125,639,400 (GRCm38)	critical splice donor site	probably null
R6522:Vwf	UTSW	6	125,662,963 (GRCm38)	critical splice acceptor site	probably null
R6766:Vwf	UTSW	6	125,639,376 (GRCm38)	missense	unknown
R6856:Vwf	UTSW	6	125,642,150 (GRCm38)	nonsense	probably null
R6877:Vwf	UTSW	6	125,657,201 (GRCm38)	missense	possibly damaging	0.48
R6896:Vwf	UTSW	6	125,566,194 (GRCm38)	missense	probably damaging	1.00
R7113:Vwf	UTSW	6	125,655,044 (GRCm38)	missense
R7287:Vwf	UTSW	6	125,637,467 (GRCm38)	missense
R7359:Vwf	UTSW	6	125,566,257 (GRCm38)	missense
R7509:Vwf	UTSW	6	125,642,169 (GRCm38)	missense
R7519:Vwf	UTSW	6	125,667,543 (GRCm38)	missense
R7545:Vwf	UTSW	6	125,614,097 (GRCm38)	missense
R7549:Vwf	UTSW	6	125,626,267 (GRCm38)	missense
R7593:Vwf	UTSW	6	125,647,768 (GRCm38)	missense
R7635:Vwf	UTSW	6	125,682,734 (GRCm38)	missense
R7793:Vwf	UTSW	6	125,686,520 (GRCm38)	missense
R7802:Vwf	UTSW	6	125,666,677 (GRCm38)	missense
R7824:Vwf	UTSW	6	125,658,815 (GRCm38)	missense
R7849:Vwf	UTSW	6	125,656,803 (GRCm38)	missense
R7900:Vwf	UTSW	6	125,628,476 (GRCm38)	critical splice donor site	probably null
R7919:Vwf	UTSW	6	125,647,859 (GRCm38)	missense
R7966:Vwf	UTSW	6	125,639,341 (GRCm38)	nonsense	probably null
R8101:Vwf	UTSW	6	125,570,559 (GRCm38)	nonsense	probably null
R8162:Vwf	UTSW	6	125,645,836 (GRCm38)	splice site	probably null
R8345:Vwf	UTSW	6	125,679,302 (GRCm38)	missense
R8853:Vwf	UTSW	6	125,657,264 (GRCm38)	missense
R9027:Vwf	UTSW	6	125,666,663 (GRCm38)	missense
R9065:Vwf	UTSW	6	125,646,299 (GRCm38)	missense
R9068:Vwf	UTSW	6	125,648,829 (GRCm38)	unclassified	probably benign
R9128:Vwf	UTSW	6	125,642,730 (GRCm38)	missense
R9136:Vwf	UTSW	6	125,599,393 (GRCm38)	splice site	probably benign
R9164:Vwf	UTSW	6	125,565,843 (GRCm38)	missense
R9177:Vwf	UTSW	6	125,604,291 (GRCm38)	missense
R9334:Vwf	UTSW	6	125,677,946 (GRCm38)	missense
R9508:Vwf	UTSW	6	125,555,508 (GRCm38)	missense
R9553:Vwf	UTSW	6	125,600,699 (GRCm38)	missense
R9660:Vwf	UTSW	6	125,591,707 (GRCm38)	missense	possibly damaging	0.61
R9706:Vwf	UTSW	6	125,624,573 (GRCm38)	missense
R9708:Vwf	UTSW	6	125,657,090 (GRCm38)	missense
R9712:Vwf	UTSW	6	125,624,573 (GRCm38)	missense
R9714:Vwf	UTSW	6	125,624,573 (GRCm38)	missense
R9728:Vwf	UTSW	6	125,591,707 (GRCm38)	missense	possibly damaging	0.61
R9758:Vwf	UTSW	6	125,626,267 (GRCm38)	missense
X0021:Vwf	UTSW	6	125,646,331 (GRCm38)	missense	probably damaging	1.00
X0065:Vwf	UTSW	6	125,603,433 (GRCm38)	missense	probably null	0.05
Z1176:Vwf	UTSW	6	125,603,308 (GRCm38)	splice site	probably null
Z1176:Vwf	UTSW	6	125,591,231 (GRCm38)	missense

Posted On

2015-12-18