Mutagenetix > Incidental Mutation

Incidental Mutation 'R4894:Vwf'

377488

Institutional Source

Beutler Lab

Gene Symbol

Vwf

Ensembl Gene

ENSMUSG00000001930

Gene Name

Von Willebrand factor

Synonyms

B130011O06Rik, 6820430P06Rik

Accession Numbers

Essential gene?

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

Stock #

R4894 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

125529911-125663642 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

C to T at 125622897 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Stop codon at position 1755 (Q1755*)

Ref Sequence

ENSEMBL: ENSMUSP00000107873 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably null
Transcript: ENSMUST00000001995
AA Change: Q1755*

SMART Domains

Protein: ENSMUSP00000001995
Gene: ENSMUSG00000001930
AA Change: Q1755*

Domain	Start	End	E-Value	Type
VWD	20	178	3.43e-35	SMART
C8	218	292	1.11e-21	SMART
Pfam:TIL	295	348	2.9e-14	PFAM
VWC	350	410	8.71e-1	SMART
VWD	377	540	2.93e-52	SMART
C8	577	649	3.82e-25	SMART
Pfam:TIL	652	707	5.7e-14	PFAM
EGF_like	787	822	4.37e1	SMART
VWC	829	898	3.29e-3	SMART
VWD	856	1012	5.15e-39	SMART
C8	1053	1127	1.01e-33	SMART
Pfam:TIL	1141	1196	3.6e-9	PFAM
VWA	1275	1458	1.81e-20	SMART
low complexity region	1461	1474	N/A	INTRINSIC
VWA	1496	1669	8.43e-39	SMART
VWA	1689	1872	2.83e-31	SMART
VWC	1879	1946	2.99e0	SMART
VWD	1938	2101	5.03e-42	SMART
C8	2132	2200	1.29e-13	SMART
Pfam:TIL	2203	2254	1.2e-7	PFAM
VWC	2257	2325	3.16e-16	SMART
low complexity region	2414	2425	N/A	INTRINSIC
VWC	2431	2494	2.61e-17	SMART
VWC	2510	2574	3.37e0	SMART
VWC	2582	2644	2.55e-11	SMART
CT	2727	2812	1.37e-31	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000112254
AA Change: Q1755*

SMART Domains

Protein: ENSMUSP00000107873
Gene: ENSMUSG00000001930
AA Change: Q1755*

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: ENSMUST00000141521

Predicted Effect

probably benign
Transcript: ENSMUST00000147101

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.0%
20x: 94.4%

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: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrf1	C	A	17: 43,609,975 (GRCm39)	Y176*	probably null	Het
Akap13	T	A	7: 75,375,068 (GRCm39)	M1900K	possibly damaging	Het
Ankrd36	A	G	11: 5,585,332 (GRCm39)	E381G	probably damaging	Het
Ap3s1	T	C	18: 46,891,183 (GRCm39)		probably null	Het
Cacna1e	G	T	1: 154,364,551 (GRCm39)	S341*	probably null	Het
Camk1d	G	A	2: 5,359,539 (GRCm39)	S161L	probably damaging	Het
Cdh23	G	T	10: 60,173,630 (GRCm39)	H1619Q	probably benign	Het
Chd7	T	A	4: 8,838,629 (GRCm39)	I1276N	probably damaging	Het
Clca3a1	A	G	3: 144,719,662 (GRCm39)	V436A	probably damaging	Het
Ctcfl	G	A	2: 172,959,196 (GRCm39)	P177S	probably benign	Het
Dab2ip	A	G	2: 35,620,539 (GRCm39)		probably benign	Het
Dnah8	G	A	17: 30,967,542 (GRCm39)	D2585N	probably benign	Het
Epc1	A	T	18: 6,449,011 (GRCm39)	S495R	probably benign	Het
Espl1	A	G	15: 102,230,758 (GRCm39)		probably null	Het
Eya4	T	C	10: 22,985,753 (GRCm39)	E583G	possibly damaging	Het
Fam111a	C	G	19: 12,565,913 (GRCm39)	T554R	probably benign	Het
Fbh1	A	T	2: 11,767,771 (GRCm39)	I359N	probably damaging	Het
Fer1l6	T	C	15: 58,490,751 (GRCm39)	C1023R	probably damaging	Het
Helz2	G	C	2: 180,877,940 (GRCm39)	P953A	probably benign	Het
Ifi204	G	T	1: 173,587,808 (GRCm39)	S117Y	probably damaging	Het
Ift70a1	T	C	2: 75,810,088 (GRCm39)	*665W	probably null	Het
Igfn1	G	A	1: 135,882,520 (GRCm39)	T2775M	probably damaging	Het
Igsf9	A	G	1: 172,325,634 (GRCm39)	T1101A	probably benign	Het
Ipo13	A	C	4: 117,760,638 (GRCm39)	I614S	probably damaging	Het
Ipo13	A	G	4: 117,761,687 (GRCm39)	I476T	possibly damaging	Het
Kdm2b	C	A	5: 123,079,030 (GRCm39)	E308*	probably null	Het
Klhl20	A	T	1: 160,937,102 (GRCm39)	M91K	possibly damaging	Het
Klrb1f	T	C	6: 129,030,151 (GRCm39)	F64L	probably benign	Het
Ldlrad3	C	T	2: 101,888,293 (GRCm39)	C106Y	probably damaging	Het
Lilra6	T	C	7: 3,915,530 (GRCm39)	T161A	probably benign	Het
Lrriq1	A	T	10: 102,997,613 (GRCm39)	M1334K	possibly damaging	Het
Mepe	C	G	5: 104,473,268 (GRCm39)	P3R	probably damaging	Het
Mgat4e	A	G	1: 134,468,856 (GRCm39)	V396A	probably benign	Het
Nfx1	T	G	4: 40,996,877 (GRCm39)	S651A	probably damaging	Het
Or10ak13	A	T	4: 118,639,483 (GRCm39)	C100S	probably damaging	Het
Or2w6	T	C	13: 21,843,352 (GRCm39)	N47S	probably damaging	Het
Or4c109	T	C	2: 88,817,783 (GRCm39)	I254M	possibly damaging	Het
Rag2	T	C	2: 101,460,022 (GRCm39)	S111P	probably damaging	Het
Rai1	T	A	11: 60,077,572 (GRCm39)	D545E	probably damaging	Het
Ralgps1	A	G	2: 33,033,115 (GRCm39)	V498A	possibly damaging	Het
Rasal2	G	A	1: 157,020,374 (GRCm39)	S205L	probably damaging	Het
Rec8	T	C	14: 55,862,787 (GRCm39)	L582P	probably damaging	Het
Retn	G	A	8: 3,707,358 (GRCm39)	R106H	probably damaging	Het
Rnf112	A	G	11: 61,343,488 (GRCm39)	L116P	probably damaging	Het
Rnf213	T	C	11: 119,372,066 (GRCm39)	Y4885H	probably damaging	Het
Sacm1l	A	G	9: 123,411,409 (GRCm39)	I399M	probably benign	Het
Sez6	G	T	11: 77,866,086 (GRCm39)	G738V	probably damaging	Het
Spata17	A	G	1: 186,872,643 (GRCm39)	V56A	probably benign	Het
Spata31d1a	A	T	13: 59,849,542 (GRCm39)	V862D	probably damaging	Het
Sptb	A	G	12: 76,671,768 (GRCm39)		probably null	Het
Srpk2	C	A	5: 23,750,527 (GRCm39)	G59W	probably damaging	Het
Tyro3	T	C	2: 119,632,779 (GRCm39)	S96P	probably damaging	Het
Ube2v1	A	G	2: 167,452,280 (GRCm39)	S108P	probably damaging	Het
Usp2	C	T	9: 43,987,125 (GRCm39)	S141L	probably benign	Het
Vamp5	T	C	6: 72,347,181 (GRCm39)	D46G	possibly damaging	Het
Vmn1r23	T	A	6: 57,903,310 (GRCm39)	Q156L	probably benign	Het
Vmn2r6	C	T	3: 64,454,829 (GRCm39)	S490N	probably benign	Het
Vps39	A	T	2: 120,183,440 (GRCm39)	I10N	probably damaging	Het
Wdfy4	A	T	14: 32,877,717 (GRCm39)	H82Q	probably benign	Het
Wdr24	T	C	17: 26,045,101 (GRCm39)	Y279H	probably damaging	Het
Wdr72	A	G	9: 74,117,843 (GRCm39)	T852A	probably benign	Het
Zfp1	T	A	8: 112,396,355 (GRCm39)	C92*	probably null	Het
Zfp1004	T	A	2: 150,033,899 (GRCm39)	C104*	probably null	Het
Zfp426	A	T	9: 20,386,369 (GRCm39)		probably benign	Het
Zfp442	C	T	2: 150,253,130 (GRCm39)		probably null	Het
Zfp74	T	C	7: 29,635,470 (GRCm39)		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
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
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'- TGATACCCTTGAACCTGCAG -3'
(R):5'- TCAGAACAATACTTGGTGGGACTG -3'

Sequencing Primer
(F):5'- CCTGCAGGTGAGGGAGTG -3'
(R):5'- AAGGACCATCTAGCTTCTCGC -3'

Posted On

2016-03-17