Mutagenetix > Incidental Mutation

Incidental Mutation 'R1777:Vwa7'

197177

Institutional Source

Beutler Lab

Gene Symbol

Vwa7

Ensembl Gene

ENSMUSG00000007030

Gene Name

von Willebrand factor A domain containing 7

Synonyms

G7c, D17H6S56E-3

MMRRC Submission

039808-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.056) question?

Stock #

R1777 (G1)

Quality Score

164

Status

Not validated

Chromosome

Chromosomal Location

35235555-35245717 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 35243924 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 786 (V786E)

Ref Sequence

ENSEMBL: ENSMUSP00000133418 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000007245] [ENSMUST00000007250] [ENSMUST00000040151] [ENSMUST00000097338] [ENSMUST00000172499] [ENSMUST00000172536] [ENSMUST00000174037] [ENSMUST00000174117] [ENSMUST00000174603]

AlphaFold

Q9JHA8

Predicted Effect

probably damaging
Transcript: ENSMUST00000007245
AA Change: V807E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000007245
Gene: ENSMUSG00000007030
AA Change: V807E

Domain	Start	End	E-Value	Type
signal peptide	1	28	N/A	INTRINSIC
VWA	314	499	2.59e0	SMART
low complexity region	683	701	N/A	INTRINSIC
low complexity region	840	861	N/A	INTRINSIC
low complexity region	864	877	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000007250

SMART Domains

Protein: ENSMUSP00000007250
Gene: ENSMUSG00000007035

Domain	Start	End	E-Value	Type
low complexity region	6	22	N/A	INTRINSIC
low complexity region	33	49	N/A	INTRINSIC
MUTSd	248	568	9.72e-72	SMART
MUTSac	584	775	2.2e-61	SMART
Blast:MUTSac	795	833	3e-11	BLAST

Predicted Effect

probably benign
Transcript: ENSMUST00000040151

SMART Domains

Protein: ENSMUSP00000047448
Gene: ENSMUSG00000036185

Domain	Start	End	E-Value	Type
Pfam:Suppressor_APC	35	114	2.1e-28	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000097338

SMART Domains

Protein: ENSMUSP00000094951
Gene: ENSMUSG00000007035

Domain	Start	End	E-Value	Type
low complexity region	6	22	N/A	INTRINSIC
low complexity region	33	49	N/A	INTRINSIC
MUTSd	248	568	9.72e-72	SMART
MUTSac	584	775	2.2e-61	SMART
Blast:MUTSac	795	833	3e-11	BLAST

Predicted Effect

probably damaging
Transcript: ENSMUST00000172499
AA Change: V786E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000133418
Gene: ENSMUSG00000007030
AA Change: V786E

Domain	Start	End	E-Value	Type
signal peptide	1	28	N/A	INTRINSIC
VWA	314	478	7.28e0	SMART
low complexity region	662	680	N/A	INTRINSIC
low complexity region	819	840	N/A	INTRINSIC
low complexity region	843	856	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000172536

SMART Domains

Protein: ENSMUSP00000134426
Gene: ENSMUSG00000007035

Domain	Start	End	E-Value	Type
low complexity region	6	22	N/A	INTRINSIC
low complexity region	33	49	N/A	INTRINSIC
MUTSd	248	568	9.72e-72	SMART
low complexity region	604	615	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000173124

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000173211

Predicted Effect

probably benign
Transcript: ENSMUST00000174037

SMART Domains

Protein: ENSMUSP00000133881
Gene: ENSMUSG00000036185

Domain	Start	End	E-Value	Type
low complexity region	55	65	N/A	INTRINSIC
low complexity region	70	84	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000174026

SMART Domains

Protein: ENSMUSP00000134295
Gene: ENSMUSG00000007035

Domain	Start	End	E-Value	Type
MUTSac	1	166	4e-36	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000174117

SMART Domains

Protein: ENSMUSP00000134423
Gene: ENSMUSG00000036185

Domain	Start	End	E-Value	Type
low complexity region	55	65	N/A	INTRINSIC
low complexity region	70	84	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000174603

SMART Domains

Protein: ENSMUSP00000134065
Gene: ENSMUSG00000007035

Domain	Start	End	E-Value	Type
low complexity region	6	22	N/A	INTRINSIC
low complexity region	33	49	N/A	INTRINSIC
MUTSd	248	493	1.67e-11	SMART

Coding Region Coverage

1x: 97.4%
3x: 96.8%
10x: 95.1%
20x: 92.1%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 91 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930444P10Rik	T	A	1: 16,148,813 (GRCm39)	D111V	possibly damaging	Het
Ap2a1	G	A	7: 44,553,576 (GRCm39)	T597M	probably damaging	Het
Arhgap25	A	G	6: 87,440,289 (GRCm39)	S364P	probably benign	Het
Atp6v1a	G	T	16: 43,935,068 (GRCm39)	Y40*	probably null	Het
Cdh1	T	A	8: 107,383,467 (GRCm39)	H235Q	probably damaging	Het
Cntln	A	G	4: 85,048,916 (GRCm39)	E1376G	probably benign	Het
Cntnap5b	T	A	1: 100,297,803 (GRCm39)	S781T	probably benign	Het
Cpne4	A	G	9: 104,749,887 (GRCm39)	T64A	probably damaging	Het
Ctsg	T	C	14: 56,338,058 (GRCm39)	Y179C	probably damaging	Het
Cx3cr1	A	G	9: 119,880,659 (GRCm39)	Y248H	probably damaging	Het
Dhx37	T	C	5: 125,506,995 (GRCm39)	E167G	probably benign	Het
Dnajc21	C	A	15: 10,449,693 (GRCm39)	A443S	probably benign	Het
Drd5	T	C	5: 38,477,504 (GRCm39)	S166P	probably damaging	Het
Dscaml1	T	C	9: 45,595,054 (GRCm39)	L719P	possibly damaging	Het
Eif2ak4	T	C	2: 118,261,320 (GRCm39)	I542T	probably damaging	Het
Ephb3	G	A	16: 21,035,985 (GRCm39)	G291E	probably damaging	Het
Eva1a	T	A	6: 82,069,137 (GRCm39)	Y155N	probably damaging	Het
Exog	C	T	9: 119,278,884 (GRCm39)	P189L	probably damaging	Het
Fam13b	A	G	18: 34,590,813 (GRCm39)	V455A	possibly damaging	Het
Fmn2	C	A	1: 174,409,488 (GRCm39)	Q574K	unknown	Het
Gm6871	A	T	7: 41,195,143 (GRCm39)	S531R	probably benign	Het
Golga2	T	A	2: 32,195,482 (GRCm39)		probably null	Het
Hydin	C	T	8: 111,316,203 (GRCm39)	P4365L	probably benign	Het
Ints8	A	T	4: 11,225,600 (GRCm39)		probably null	Het
Kbtbd12	A	C	6: 88,595,042 (GRCm39)	S263A	probably benign	Het
Kcng4	T	C	8: 120,360,226 (GRCm39)	D50G	probably benign	Het
Klhl18	A	T	9: 110,266,469 (GRCm39)	C217S	probably benign	Het
Klk1b4	A	G	7: 43,856,875 (GRCm39)		probably benign	Het
Klk7	G	A	7: 43,462,753 (GRCm39)	C186Y	probably damaging	Het
Krbox5	A	T	13: 67,981,984 (GRCm39)	R65S	probably benign	Het
Krit1	T	C	5: 3,886,799 (GRCm39)	Y635H	probably damaging	Het
Lipo4	A	T	19: 33,476,721 (GRCm39)	D342E	probably damaging	Het
Lsm14b	T	G	2: 179,673,588 (GRCm39)	D199E	probably benign	Het
Map3k4	A	T	17: 12,490,617 (GRCm39)	N271K	possibly damaging	Het
Mast1	T	A	8: 85,638,697 (GRCm39)	N1544I	probably benign	Het
Megf6	T	A	4: 154,355,147 (GRCm39)	C1487*	probably null	Het
Mlh3	C	A	12: 85,315,528 (GRCm39)	K219N	possibly damaging	Het
Mtmr4	A	G	11: 87,493,656 (GRCm39)	K305E	probably damaging	Het
Myo15a	A	G	11: 60,405,762 (GRCm39)	M3105V	probably benign	Het
Nbas	A	T	12: 13,563,563 (GRCm39)	I1958F	probably benign	Het
Nepro	A	T	16: 44,556,216 (GRCm39)	Q458L	probably damaging	Het
Opa3	T	C	7: 18,978,837 (GRCm39)	Y101H	probably damaging	Het
Or11g25	T	A	14: 50,723,757 (GRCm39)	F281I	probably benign	Het
Or14c41	T	A	7: 86,235,272 (GRCm39)	I263N	probably benign	Het
Or4f15	T	A	2: 111,814,042 (GRCm39)	I126L	possibly damaging	Het
Or51f1d	T	C	7: 102,700,583 (GRCm39)	I26T	probably benign	Het
Or5ac16	A	G	16: 59,022,379 (GRCm39)	S137P	probably benign	Het
Or8b12	A	G	9: 37,657,607 (GRCm39)	Y59C	possibly damaging	Het
Pate3	T	C	9: 35,559,412 (GRCm39)	N2D	probably benign	Het
Pcdhb21	T	A	18: 37,648,771 (GRCm39)	D633E	possibly damaging	Het
Pgm2	C	T	5: 64,285,125 (GRCm39)	P589L	probably benign	Het
Pigg	T	A	5: 108,465,257 (GRCm39)	D163E	probably damaging	Het
Polq	A	G	16: 36,880,586 (GRCm39)	T638A	possibly damaging	Het
Prmt3	T	A	7: 49,448,094 (GRCm39)	M268K	possibly damaging	Het
Prmt9	T	C	8: 78,291,737 (GRCm39)	C370R	probably benign	Het
Prss57	A	T	10: 79,623,219 (GRCm39)	V76E	possibly damaging	Het
Psme3ip1	T	C	8: 95,315,439 (GRCm39)	E31G	probably damaging	Het
Pzp	T	C	6: 128,467,535 (GRCm39)	E1089G	possibly damaging	Het
Qars1	T	A	9: 108,385,400 (GRCm39)		probably null	Het
Ralgapb	T	C	2: 158,304,115 (GRCm39)	Y625H	probably damaging	Het
Rgl2	G	A	17: 34,150,718 (GRCm39)	D59N	probably benign	Het
Robo1	T	G	16: 72,801,555 (GRCm39)	W1060G	probably benign	Het
Scaper	A	T	9: 55,771,830 (GRCm39)	V362E	probably benign	Het
Schip1	T	C	3: 68,525,017 (GRCm39)	F131S	probably damaging	Het
Sh2b2	A	T	5: 136,256,276 (GRCm39)	V252D	probably damaging	Het
Shld2	C	A	14: 33,990,130 (GRCm39)	V259L	probably benign	Het
Slc17a6	A	T	7: 51,295,957 (GRCm39)	H199L	possibly damaging	Het
Slc29a1	A	G	17: 45,898,234 (GRCm39)	Y325H	probably damaging	Het
Slc29a4	G	T	5: 142,699,817 (GRCm39)	W156L	probably damaging	Het
Slc5a3	T	A	16: 91,874,644 (GRCm39)	S234T	probably benign	Het
Srd5a3	T	G	5: 76,297,630 (GRCm39)	V20G	probably damaging	Het
Stac	A	T	9: 111,433,150 (GRCm39)	S223T	possibly damaging	Het
Sytl2	A	T	7: 90,052,260 (GRCm39)	T766S	probably benign	Het
Tas2r102	A	G	6: 132,739,254 (GRCm39)	D54G	probably benign	Het
Tbpl1	A	G	10: 22,583,742 (GRCm39)	V105A	probably damaging	Het
Tenm3	G	T	8: 48,870,214 (GRCm39)	P193Q	probably benign	Het
Tes	G	A	6: 17,104,754 (GRCm39)	V403M	probably benign	Het
Tgfbr2	A	C	9: 115,938,948 (GRCm39)	I318S	probably damaging	Het
Tgfbr3	C	A	5: 107,284,796 (GRCm39)	V618L	probably benign	Het
Tmc1	C	T	19: 20,793,473 (GRCm39)		probably null	Het
Tmem132a	G	A	19: 10,835,870 (GRCm39)	H887Y	probably damaging	Het
Tmem43	C	A	6: 91,454,312 (GRCm39)	S33*	probably null	Het
Tob1	A	G	11: 94,104,580 (GRCm39)	K39E	probably damaging	Het
Tut7	A	T	13: 59,939,635 (GRCm39)	H705Q	probably damaging	Het
Unc79	T	A	12: 103,078,714 (GRCm39)	D1433E	probably damaging	Het
Usp25	T	C	16: 76,878,442 (GRCm39)	M622T	probably damaging	Het
Vmn1r158	A	T	7: 22,489,855 (GRCm39)	L118Q	probably damaging	Het
Vmn1r217	T	A	13: 23,298,495 (GRCm39)	I136L	probably benign	Het
Vmn2r15	A	T	5: 109,442,136 (GRCm39)	I99K	possibly damaging	Het
Xkr5	A	G	8: 18,989,148 (GRCm39)	F248S	probably benign	Het
Zzef1	A	T	11: 72,801,098 (GRCm39)	K2444M	probably damaging	Het

Other mutations in Vwa7

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01103:Vwa7	APN	17	35,243,918 (GRCm39)	missense	probably damaging	1.00
IGL01736:Vwa7	APN	17	35,238,827 (GRCm39)	missense	probably damaging	1.00
IGL01868:Vwa7	APN	17	35,240,235 (GRCm39)	missense	probably null	0.96
IGL01920:Vwa7	APN	17	35,243,579 (GRCm39)	missense	probably benign	0.01
IGL02227:Vwa7	APN	17	35,239,060 (GRCm39)	missense	probably damaging	1.00
IGL02947:Vwa7	APN	17	35,242,476 (GRCm39)	splice site	probably null
IGL03259:Vwa7	APN	17	35,239,002 (GRCm39)	splice site	probably null
IGL03263:Vwa7	APN	17	35,240,575 (GRCm39)	missense	probably benign	0.16
R0008:Vwa7	UTSW	17	35,238,781 (GRCm39)	missense	probably benign	0.33
R0057:Vwa7	UTSW	17	35,243,523 (GRCm39)	missense	possibly damaging	0.85
R0057:Vwa7	UTSW	17	35,243,523 (GRCm39)	missense	possibly damaging	0.85
R0418:Vwa7	UTSW	17	35,236,933 (GRCm39)	missense	possibly damaging	0.57
R0538:Vwa7	UTSW	17	35,241,627 (GRCm39)	missense	probably damaging	1.00
R1121:Vwa7	UTSW	17	35,236,770 (GRCm39)	missense	probably damaging	1.00
R1659:Vwa7	UTSW	17	35,238,047 (GRCm39)	missense	probably benign	0.04
R1766:Vwa7	UTSW	17	35,242,919 (GRCm39)	critical splice donor site	probably null
R1793:Vwa7	UTSW	17	35,243,388 (GRCm39)	nonsense	probably null
R1874:Vwa7	UTSW	17	35,236,088 (GRCm39)	missense	probably benign	0.00
R2139:Vwa7	UTSW	17	35,242,406 (GRCm39)	missense	probably benign	0.00
R2248:Vwa7	UTSW	17	35,238,019 (GRCm39)	missense	probably benign	0.04
R2290:Vwa7	UTSW	17	35,236,187 (GRCm39)	missense	probably damaging	1.00
R2869:Vwa7	UTSW	17	35,240,218 (GRCm39)	missense	probably damaging	1.00
R2869:Vwa7	UTSW	17	35,240,218 (GRCm39)	missense	probably damaging	1.00
R2870:Vwa7	UTSW	17	35,240,218 (GRCm39)	missense	probably damaging	1.00
R2870:Vwa7	UTSW	17	35,240,218 (GRCm39)	missense	probably damaging	1.00
R2871:Vwa7	UTSW	17	35,240,218 (GRCm39)	missense	probably damaging	1.00
R2871:Vwa7	UTSW	17	35,240,218 (GRCm39)	missense	probably damaging	1.00
R2873:Vwa7	UTSW	17	35,240,218 (GRCm39)	missense	probably damaging	1.00
R2874:Vwa7	UTSW	17	35,240,218 (GRCm39)	missense	probably damaging	1.00
R3038:Vwa7	UTSW	17	35,241,637 (GRCm39)	missense	probably damaging	1.00
R3792:Vwa7	UTSW	17	35,244,135 (GRCm39)	splice site	probably null
R3970:Vwa7	UTSW	17	35,236,684 (GRCm39)	missense	probably damaging	1.00
R4612:Vwa7	UTSW	17	35,242,426 (GRCm39)	missense	probably damaging	0.96
R5013:Vwa7	UTSW	17	35,241,709 (GRCm39)	missense	probably damaging	1.00
R5068:Vwa7	UTSW	17	35,243,166 (GRCm39)	missense	probably benign	0.25
R5069:Vwa7	UTSW	17	35,243,166 (GRCm39)	missense	probably benign	0.25
R5070:Vwa7	UTSW	17	35,243,166 (GRCm39)	missense	probably benign	0.25
R5137:Vwa7	UTSW	17	35,236,822 (GRCm39)	missense	probably damaging	1.00
R5384:Vwa7	UTSW	17	35,243,902 (GRCm39)	splice site	probably null
R6170:Vwa7	UTSW	17	35,240,186 (GRCm39)	missense	possibly damaging	0.56
R6229:Vwa7	UTSW	17	35,243,241 (GRCm39)	missense	probably benign	0.00
R6249:Vwa7	UTSW	17	35,242,365 (GRCm39)	missense	probably benign	0.00
R6401:Vwa7	UTSW	17	35,236,286 (GRCm39)	splice site	probably null
R6429:Vwa7	UTSW	17	35,243,175 (GRCm39)	missense	probably benign	0.32
R6678:Vwa7	UTSW	17	35,238,776 (GRCm39)	missense	probably damaging	1.00
R6793:Vwa7	UTSW	17	35,243,867 (GRCm39)	missense	probably benign	0.06
R6966:Vwa7	UTSW	17	35,236,072 (GRCm39)	missense	probably benign
R7492:Vwa7	UTSW	17	35,238,020 (GRCm39)	missense	possibly damaging	0.86
R7903:Vwa7	UTSW	17	35,236,763 (GRCm39)	missense	probably damaging	1.00
R7922:Vwa7	UTSW	17	35,243,409 (GRCm39)	missense	possibly damaging	0.81
R8191:Vwa7	UTSW	17	35,238,712 (GRCm39)	missense	probably damaging	0.96
R8728:Vwa7	UTSW	17	35,236,133 (GRCm39)	missense	probably damaging	1.00
R8961:Vwa7	UTSW	17	35,238,086 (GRCm39)	missense	probably damaging	1.00
R9037:Vwa7	UTSW	17	35,236,268 (GRCm39)	missense	probably benign	0.00
R9275:Vwa7	UTSW	17	35,238,712 (GRCm39)	missense	probably damaging	0.96

Predicted Primers

PCR Primer
(F):5'- AGGACTTGACCCTTAGCCCTCAATC -3'
(R):5'- TGCCCTGAGTCACCAAAGTGGAAG -3'

Sequencing Primer
(F):5'- TCAATCCTGTCCTATGATTGGC -3'
(R):5'- AGCTGGTCCTGTGGAGAG -3'

Posted On

2014-05-23