Mutagenetix > Incidental Mutation

Incidental Mutation 'R1398:Vwf'

160232

Institutional Source

Beutler Lab

Gene Symbol

Vwf

Ensembl Gene

ENSMUSG00000001930

Gene Name

Von Willebrand factor

Synonyms

B130011O06Rik, 6820430P06Rik

MMRRC Submission

039460-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.122) question?

Stock #

R1398 (G1)

Quality Score

192

Status

Validated

Chromosome

Chromosomal Location

125529911-125663642 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 125580420 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Leucine at position 556 (Q556L)

Ref Sequence

ENSEMBL: ENSMUSP00000107873 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000112254
AA Change: Q556L

PolyPhen 2 Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000107873
Gene: ENSMUSG00000001930
AA Change: Q556L

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000150548

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.0%
3x: 98.1%
10x: 95.6%
20x: 90.7%

Validation Efficiency

96% (75/78)

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: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca17	T	C	17: 24,547,511 (GRCm39)	K288E	probably damaging	Het
Aldh3a2	T	C	11: 61,147,562 (GRCm39)		probably null	Het
Anks1b	A	G	10: 89,885,891 (GRCm39)	T196A	probably damaging	Het
Anks6	T	A	4: 47,044,926 (GRCm39)	T327S	possibly damaging	Het
Bdh2	T	C	3: 135,001,057 (GRCm39)		probably benign	Het
C4b	T	A	17: 34,949,693 (GRCm39)		probably benign	Het
Cacna2d1	G	A	5: 16,562,764 (GRCm39)	V847I	possibly damaging	Het
Cadps	G	T	14: 12,449,822 (GRCm38)	T1129K	probably damaging	Het
Cdc45	A	G	16: 18,600,721 (GRCm39)		probably benign	Het
Cep63	A	T	9: 102,480,285 (GRCm39)		probably benign	Het
Chil4	T	A	3: 106,126,825 (GRCm39)		probably null	Het
Cnot11	A	G	1: 39,584,261 (GRCm39)	R478G	probably damaging	Het
Cyp2c67	A	G	19: 39,627,069 (GRCm39)	S254P	probably damaging	Het
Dnah11	T	A	12: 118,020,841 (GRCm39)	K87*	probably null	Het
Dpy19l2	T	A	9: 24,492,559 (GRCm39)		probably benign	Het
Dsc1	A	T	18: 20,221,393 (GRCm39)	I694N	probably damaging	Het
Ehd4	A	T	2: 119,958,081 (GRCm39)	I168K	probably benign	Het
Eif4e	A	T	3: 138,252,136 (GRCm39)	N25Y	probably damaging	Het
Elapor2	A	G	5: 9,430,297 (GRCm39)	Y69C	probably damaging	Het
Eme2	G	A	17: 25,111,892 (GRCm39)	S263F	probably damaging	Het
Fgfrl1	T	A	5: 108,854,147 (GRCm39)		probably benign	Het
Fhip2a	T	A	19: 57,361,358 (GRCm39)		probably benign	Het
Gm3159	T	A	14: 4,398,586 (GRCm38)	Y92*	probably null	Het
Gm4922	T	A	10: 18,659,496 (GRCm39)	S409C	possibly damaging	Het
Gmcl1	G	A	6: 86,691,244 (GRCm39)		probably benign	Het
Grsf1	A	G	5: 88,813,706 (GRCm39)	Y231H	probably benign	Het
Heatr4	T	A	12: 84,014,395 (GRCm39)	H614L	possibly damaging	Het
Hoxa13	C	G	6: 52,260,647 (GRCm38)		probably benign	Het
Hoxa13	G	C	6: 52,260,648 (GRCm38)		probably benign	Het
Isg20l2	C	A	3: 87,846,061 (GRCm39)	L325I	probably benign	Het
Kalrn	A	G	16: 34,033,190 (GRCm39)	Y879H	probably damaging	Het
Kcnk10	C	A	12: 98,402,485 (GRCm39)	W318L	probably damaging	Het
Kctd1	T	C	18: 15,195,654 (GRCm39)	E323G	possibly damaging	Het
Kif4	G	T	X: 99,732,703 (GRCm39)	A492S	probably benign	Het
Krtap4-1	T	C	11: 99,518,558 (GRCm39)	T151A	unknown	Het
Ldlr	A	T	9: 21,650,838 (GRCm39)	Q449L	probably benign	Het
Lepr	T	A	4: 101,649,216 (GRCm39)	D872E	probably damaging	Het
Lgals12	C	T	19: 7,581,322 (GRCm39)		probably benign	Het
Lrig3	C	T	10: 125,838,957 (GRCm39)	P488L	probably benign	Het
Lrrc4b	A	C	7: 44,111,876 (GRCm39)	I583L	probably benign	Het
Lyst	T	C	13: 13,915,121 (GRCm39)	S3272P	possibly damaging	Het
Marchf2	T	C	17: 33,915,096 (GRCm39)	H166R	probably damaging	Het
Mtbp	C	A	15: 55,440,933 (GRCm39)	Y373*	probably null	Het
Myh2	C	T	11: 67,076,113 (GRCm39)	H767Y	probably benign	Het
Ncam1	G	A	9: 49,428,889 (GRCm39)		probably benign	Het
Neb	T	A	2: 52,179,658 (GRCm39)	N1282Y	probably damaging	Het
Nectin3	A	G	16: 46,269,119 (GRCm39)	Y428H	possibly damaging	Het
Nrros	A	T	16: 31,961,962 (GRCm39)	I649N	probably damaging	Het
Nvl	A	T	1: 180,924,691 (GRCm39)		probably benign	Het
Or5p70	T	A	7: 107,994,708 (GRCm39)	V127E	probably damaging	Het
Pms1	A	T	1: 53,246,435 (GRCm39)	V368E	possibly damaging	Het
Polq	T	A	16: 36,882,857 (GRCm39)	S1674T	possibly damaging	Het
Ppp1r21	T	C	17: 88,850,307 (GRCm39)	V31A	probably damaging	Het
Rev3l	T	A	10: 39,697,579 (GRCm39)	V692E	probably benign	Het
Robo4	T	C	9: 37,319,372 (GRCm39)		probably null	Het
Rps6kc1	T	C	1: 190,532,212 (GRCm39)	I597V	probably damaging	Het
Rtel1	T	A	2: 180,977,658 (GRCm39)		probably null	Het
Scn9a	A	G	2: 66,314,930 (GRCm39)	M1587T	probably benign	Het
Sec31b	T	A	19: 44,512,104 (GRCm39)	I597F	probably benign	Het
Skint5	T	C	4: 113,636,268 (GRCm39)	N650S	unknown	Het
Slc22a28	G	T	19: 8,107,566 (GRCm39)	S167*	probably null	Het
Slfn1	T	A	11: 83,011,968 (GRCm39)	M28K	probably damaging	Het
Smc6	T	C	12: 11,321,880 (GRCm39)		probably benign	Het
Sox8	T	C	17: 25,786,857 (GRCm39)	H282R	probably benign	Het
Spata31e2	G	T	1: 26,724,422 (GRCm39)	Q253K	possibly damaging	Het
Syngr3	C	A	17: 24,905,414 (GRCm39)	V161L	probably benign	Het
Trak1	C	T	9: 121,283,425 (GRCm39)	S397F	probably damaging	Het
Uso1	C	T	5: 92,329,327 (GRCm39)	A405V	probably benign	Het
Uvrag	G	T	7: 98,715,027 (GRCm39)	Y190*	probably null	Het
Vps13d	A	T	4: 144,826,553 (GRCm39)	L1726Q	probably null	Het
Wdr70	T	A	15: 8,065,325 (GRCm39)	M246L	probably benign	Het
Yipf3	T	C	17: 46,562,372 (GRCm39)	F285S	probably damaging	Het
Zdhhc13	G	A	7: 48,476,621 (GRCm39)	G579R	probably damaging	Het
Zdhhc18	G	C	4: 133,354,608 (GRCm39)	F125L	probably benign	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
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
R6179:Vwf	UTSW	6	125,626,252 (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'- ACTAAGTGGAACCATTGTGGCACTG -3'
(R):5'- TCTTTTCCGGGCCAGAAACGAC -3'

Sequencing Primer
(F):5'- ATTGTGGCACTGGGGGAC -3'
(R):5'- TGAGCCAAATGTGGATCTCAAC -3'

Posted On

2014-03-14