Mutagenetix > Incidental Mutation

Incidental Mutation 'R9508:Vwf'

717928

Institutional Source

Beutler Lab

Gene Symbol

Vwf

Ensembl Gene

ENSMUSG00000001930

Gene Name

Von Willebrand factor

Synonyms

B130011O06Rik, 6820430P06Rik

MMRRC Submission

Accession Numbers

Essential gene?

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

Stock #

R9508 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

125529911-125663642 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 125532471 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 72 (I72F)

Ref Sequence

ENSEMBL: ENSMUSP00000107873 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000100941] [ENSMUST00000112253] [ENSMUST00000112254]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000100941
AA Change: I90F

PolyPhen 2 Score 0.435 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000098502
Gene: ENSMUSG00000001930
AA Change: I90F

Domain	Start	End	E-Value	Type
VWD	38	196	3.43e-35	SMART
C8	236	310	1.11e-21	SMART
Pfam:TIL	313	366	2.8e-15	PFAM
Blast:VWC	368	404	6e-18	BLAST

Predicted Effect

probably damaging
Transcript: ENSMUST00000112253
AA Change: I75F

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000107872
Gene: ENSMUSG00000001930
AA Change: I75F

Domain	Start	End	E-Value	Type
VWD	23	181	3.43e-35	SMART
C8	221	295	1.11e-21	SMART
Pfam:TIL	298	351	2.7e-15	PFAM
Blast:VWC	353	389	6e-18	BLAST

Predicted Effect

SMART Domains

Protein: ENSMUSP00000107873
Gene: ENSMUSG00000001930
AA Change: I72F

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

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: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4833420G17Rik	G	A	13: 119,617,484 (GRCm39)	V536I		Het
Adam18	A	G	8: 25,143,778 (GRCm39)	I187T	possibly damaging	Het
Adam24	A	G	8: 41,132,941 (GRCm39)	I136M	probably benign	Het
B3galt2	A	T	1: 143,522,280 (GRCm39)	I139F	possibly damaging	Het
Cacna1i	C	T	15: 80,279,372 (GRCm39)	P2038S	probably benign	Het
Cbll1	A	T	12: 31,544,685 (GRCm39)	I26N	probably damaging	Het
Cldn1	A	T	16: 26,179,619 (GRCm39)	Y149*	probably null	Het
Cnot11	T	C	1: 39,581,575 (GRCm39)	V372A	probably damaging	Het
Cnot2	A	G	10: 116,329,616 (GRCm39)	L458P	probably damaging	Het
Cnot4	T	C	6: 35,045,554 (GRCm39)	E219G		Het
Col8a1	T	G	16: 57,448,947 (GRCm39)	I188L	unknown	Het
Daam2	T	C	17: 49,765,618 (GRCm39)	K1095R	probably damaging	Het
Dnah9	T	C	11: 65,725,089 (GRCm39)	T4355A	probably damaging	Het
Dsg4	A	G	18: 20,604,070 (GRCm39)	I846V	probably damaging	Het
Ehd4	C	T	2: 119,921,966 (GRCm39)	G430E	probably damaging	Het
Fanci	T	C	7: 79,083,033 (GRCm39)	Y670H	possibly damaging	Het
Galnt10	T	A	11: 57,673,040 (GRCm39)	N465K	possibly damaging	Het
Glipr1l1	A	G	10: 111,912,015 (GRCm39)	N183S	probably damaging	Het
Gnl1	T	C	17: 36,299,625 (GRCm39)	Y599H	possibly damaging	Het
Gpr26	T	C	7: 131,585,830 (GRCm39)	S267P	probably benign	Het
Grk2	A	T	19: 4,341,636 (GRCm39)	N179K	probably damaging	Het
Igf2bp2	T	A	16: 21,898,845 (GRCm39)	M255L	probably benign	Het
Ighv2-6	T	C	12: 113,680,430 (GRCm39)	I70M	probably benign	Het
Igkv4-74	T	A	6: 69,161,942 (GRCm39)	N76Y	probably damaging	Het
Il11ra1	T	C	4: 41,767,527 (GRCm39)	V293A	probably damaging	Het
Itpr3	G	A	17: 27,337,651 (GRCm39)		probably benign	Het
Kank2	A	T	9: 21,687,076 (GRCm39)	L582Q	probably damaging	Het
Kmt2b	T	C	7: 30,269,259 (GRCm39)	T2554A	probably damaging	Het
Mecom	T	A	3: 30,010,621 (GRCm39)	Y619F	probably benign	Het
Mknk1	A	G	4: 115,732,579 (GRCm39)	N269S	probably benign	Het
Mpp2	T	A	11: 101,951,692 (GRCm39)	E435D	probably damaging	Het
Nicn1	C	T	9: 108,171,708 (GRCm39)	R163C	possibly damaging	Het
Or2f2	A	G	6: 42,767,928 (GRCm39)	*318W	probably null	Het
Or5g9	A	G	2: 85,552,165 (GRCm39)	R139G	possibly damaging	Het
Or7a41	A	T	10: 78,870,933 (GRCm39)	Q101L	probably damaging	Het
P3h3	A	G	6: 124,830,012 (GRCm39)		probably null	Het
Paqr5	C	T	9: 61,880,079 (GRCm39)	V72M	probably benign	Het
Pilrb2	G	A	5: 137,869,261 (GRCm39)	T113I	probably damaging	Het
Pitpnm3	T	C	11: 72,003,121 (GRCm39)	E63G	probably damaging	Het
Ppp4r4	G	A	12: 103,542,561 (GRCm39)	V108M	possibly damaging	Het
Ptprf	G	T	4: 118,126,776 (GRCm39)	S46*	probably null	Het
Rab2a	T	C	4: 8,582,447 (GRCm39)	L143P		Het
Rassf7	C	T	7: 140,796,924 (GRCm39)	R46*	probably null	Het
Sec23a	T	C	12: 59,036,185 (GRCm39)	D393G	probably benign	Het
Semp2l2b	A	G	10: 21,942,816 (GRCm39)	V388A	probably damaging	Het
Serpinb9f	T	A	13: 33,518,515 (GRCm39)	F338L	probably benign	Het
Spg7	T	C	8: 123,800,623 (GRCm39)	V66A	probably damaging	Het
Sult2a4	C	T	7: 13,723,437 (GRCm39)	R27H	probably benign	Het
Sumo2	A	C	11: 115,414,538 (GRCm39)	Y95D	possibly damaging	Het
Tbx18	G	A	9: 87,587,926 (GRCm39)	S397F	probably damaging	Het
Ticam2	G	C	18: 46,693,748 (GRCm39)	P113R	probably damaging	Het
Timeless	A	G	10: 128,076,096 (GRCm39)	S63G	probably benign	Het
Tinag	C	T	9: 76,912,981 (GRCm39)	C276Y	probably damaging	Het
Tmem143	A	T	7: 45,565,630 (GRCm39)	K364*	probably null	Het
Tmem160	A	G	7: 16,186,840 (GRCm39)		probably benign	Het
Tmod4	G	C	3: 95,034,713 (GRCm39)	E154Q	probably benign	Het
Trpv1	G	T	11: 73,145,090 (GRCm39)	K725N		Het
Ttn	G	T	2: 76,715,978 (GRCm39)	A7767D	unknown	Het
Tubd1	T	A	11: 86,448,640 (GRCm39)	Y318N	probably damaging	Het
Ufd1	T	A	16: 18,643,802 (GRCm39)	M187K	possibly damaging	Het
Unc5c	A	G	3: 141,494,736 (GRCm39)	N424D	possibly damaging	Het
Usp19	C	T	9: 108,371,608 (GRCm39)	S329L	probably damaging	Het
Vps16	T	A	2: 130,284,361 (GRCm39)	I704N	possibly damaging	Het
Ypel4	T	C	2: 84,567,304 (GRCm39)	S46P	probably damaging	Het
Zcchc8	A	C	5: 123,842,584 (GRCm39)		probably null	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
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
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'- TGGCTTCTTCCTTCAGGGAC -3'
(R):5'- TGTCCTCACACCAGACTTTGAG -3'

Sequencing Primer
(F):5'- TTCAGGGACCCTCTGCACAG -3'
(R):5'- TCACACCAGACTTTGAGAAGGTGTC -3'

Posted On

2022-07-18