Mutagenetix > Incidental Mutations

Incidental Mutation 'R7922:Vwa7'

648490

Institutional Source

Beutler Lab

Gene Symbol

Vwa7

Ensembl Gene

ENSMUSG00000007030

Gene Name

von Willebrand factor A domain containing 7

Synonyms

D17H6S56E-3, G7c

MMRRC Submission

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.052) question?

Stock #

R7922 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

35016579-35026741 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 35024433 bp

Zygosity

Heterozygous

Amino Acid Change

Alanine to Serine at position 717 (A717S)

Ref Sequence

ENSEMBL: ENSMUSP00000007245 (fasta)

Gene Model

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000007245
AA Change: A717S

PolyPhen 2 Score 0.810 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000007245
Gene: ENSMUSG00000007030
AA Change: A717S

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

possibly damaging
Transcript: ENSMUST00000172499
AA Change: A696S

PolyPhen 2 Score 0.810 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000133418
Gene: ENSMUSG00000007030
AA Change: A696S

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

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: 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: 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: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 82 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2700049A03Rik	C	T	12: 71,164,406	T638M	possibly damaging	Het
4930546C10Rik	A	G	18: 68,949,996		probably null	Het
Abi3	A	T	11: 95,832,793	Y342N	unknown	Het
Adk	G	A	14: 21,318,043	V195I	probably benign	Het
Ago2	C	T	15: 73,126,526	V268M	possibly damaging	Het
Apaf1	T	C	10: 90,999,753	I1077V	probably benign	Het
Arap1	A	T	7: 101,404,414	K1317*	probably null	Het
Auts2	T	A	5: 131,440,373	D493V		Het
Baz1b	A	T	5: 135,231,679	Q1110L	probably damaging	Het
Brsk2	T	A	7: 141,993,220	S467T	possibly damaging	Het
Btbd9	A	T	17: 30,274,884	M511K	probably benign	Het
Cdh23	T	A	10: 60,382,706	Y1385F	probably benign	Het
Cfap100	A	C	6: 90,403,980	L427V	unknown	Het
Cnga1	A	G	5: 72,604,882	F430L	possibly damaging	Het
Dnhd1	A	T	7: 105,668,514	D472V	probably damaging	Het
Dock2	T	A	11: 34,707,327	E339V	probably benign	Het
Eif3a	A	T	19: 60,775,842	V379E	probably damaging	Het
Erich4	T	A	7: 25,615,743	N36Y	probably damaging	Het
Fam60a	T	A	6: 148,926,146	T125S	probably benign	Het
Frem2	T	C	3: 53,653,304	T1261A	probably damaging	Het
Fzd6	A	T	15: 39,031,108	D223V	probably damaging	Het
Gabra2	A	T	5: 71,007,972	Y218*	probably null	Het
Gcn1l1	G	T	5: 115,614,468	M2177I	probably benign	Het
Ghr	G	A	15: 3,341,074	T103I	possibly damaging	Het
Gipc1	T	C	8: 83,661,228	V79A	probably benign	Het
Gm10031	A	T	1: 156,524,992	L254F	probably damaging	Het
Gm13272	T	A	4: 88,780,340	V164D	probably damaging	Het
Gramd4	C	A	15: 86,131,958	H503Q	probably benign	Het
Gstm4	A	T	3: 108,044,671	M1K	probably null	Het
Heatr5b	T	A	17: 78,760,559	Q1800L	probably benign	Het
Hectd1	T	A	12: 51,790,195	K826*	probably null	Het
Hoxa9	T	C	6: 52,224,309	I251V	possibly damaging	Het
Il2ra	A	T	2: 11,674,366	I46F	possibly damaging	Het
Ints2	T	A	11: 86,244,627	R320S	probably benign	Het
Iscu	A	T	5: 113,774,282	N46I	probably damaging	Het
Iscu	G	A	5: 113,774,349	R60Q	unknown	Het
Kcnk3	A	T	5: 30,588,531	H72L	probably damaging	Het
Kmt2a	T	G	9: 44,842,860	S1228R	unknown	Het
Mbl2	T	A	19: 30,239,238	L150Q	probably damaging	Het
Med13	A	T	11: 86,271,005	F2166Y	probably damaging	Het
Mterf4	A	C	1: 93,301,553	L246*	probably null	Het
Muc16	T	C	9: 18,584,825	Q6690R	probably benign	Het
Myh10	T	A	11: 68,808,893	L1722Q	possibly damaging	Het
Neurod2	T	C	11: 98,327,628	M237V	probably benign	Het
Olfml1	A	G	7: 107,571,149	Y81C	probably damaging	Het
Olfr735	A	G	14: 50,346,415	V9A	probably benign	Het
Pcdhga7	A	T	18: 37,716,173	N411I	probably benign	Het
Pcdhgb8	T	C	18: 37,763,949	F691L	probably benign	Het
Pik3c2a	A	G	7: 116,391,282	V481A	probably damaging	Het
Pik3r6	A	T	11: 68,533,875	R435S	probably benign	Het
Pkd1l1	G	A	11: 8,849,013	H2250Y		Het
Pkd1l1	A	G	11: 8,909,857	S1034P		Het
Plcd1	C	A	9: 119,074,652	R400L	possibly damaging	Het
Ppp2r1a	A	G	17: 20,954,617	T58A	probably benign	Het
Ppp5c	T	C	7: 17,027,800	E5G	possibly damaging	Het
Pradc1	A	C	6: 85,447,968	F82L	probably benign	Het
Prkag3	A	T	1: 74,741,257	S416R	probably benign	Het
Rab3gap2	T	C	1: 185,249,920	C390R	probably benign	Het
Rhot1	A	G	11: 80,265,803	T655A	probably benign	Het
Rorc	A	G	3: 94,391,188	I348V	probably damaging	Het
Ryr1	A	T	7: 29,097,224	V1051E	probably benign	Het
Sema5b	GCAC	GC	16: 35,658,256		probably null	Het
Serpinb3c	G	A	1: 107,272,014	T259I	probably damaging	Het
Sh3gl1	A	T	17: 56,019,438	M70K	probably damaging	Het
Slc7a4	C	T	16: 17,573,366	V607I	probably benign	Het
Spop	A	T	11: 95,471,328	N62Y	probably damaging	Het
Spout1	A	G	2: 30,176,811	F130S	probably benign	Het
Tab1	A	G	15: 80,158,865	H420R	possibly damaging	Het
Tecpr2	CA	C	12: 110,932,642		probably null	Het
Tnxb	G	C	17: 34,714,603	K2332N	probably damaging	Het
Togaram1	T	C	12: 64,967,738	Y588H	probably damaging	Het
Trim71	G	A	9: 114,513,085	R710C	probably damaging	Het
Tsen54	C	T	11: 115,820,782	Q342*	probably null	Het
Ube2r2	T	A	4: 41,190,812	N235K	unknown	Het
Utrn	C	A	10: 12,667,527	K1792N	possibly damaging	Het
Vmn1r122	A	G	7: 21,133,662	I156T	possibly damaging	Het
Vmn1r94	T	C	7: 20,167,711	T223A	possibly damaging	Het
Vmn2r120	G	A	17: 57,524,683	R369W	probably damaging	Het
Zc3h4	T	A	7: 16,425,722	C398S	unknown	Het
Zc3hc1	T	A	6: 30,390,875	E43V	possibly damaging	Het
Zfp101	A	T	17: 33,381,537	V415D	possibly damaging	Het
Zfp553	A	G	7: 127,236,596	H441R	probably damaging	Het

Other mutations in Vwa7

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01103:Vwa7	APN	17	35024942	missense	probably damaging	1.00
IGL01736:Vwa7	APN	17	35019851	missense	probably damaging	1.00
IGL01868:Vwa7	APN	17	35021259	missense	probably null	0.96
IGL01920:Vwa7	APN	17	35024603	missense	probably benign	0.01
IGL02227:Vwa7	APN	17	35020084	missense	probably damaging	1.00
IGL02947:Vwa7	APN	17	35023500	splice site	probably null
IGL03259:Vwa7	APN	17	35020026	splice site	probably null
IGL03263:Vwa7	APN	17	35021599	missense	probably benign	0.16
R0008:Vwa7	UTSW	17	35019805	missense	probably benign	0.33
R0057:Vwa7	UTSW	17	35024547	missense	possibly damaging	0.85
R0057:Vwa7	UTSW	17	35024547	missense	possibly damaging	0.85
R0418:Vwa7	UTSW	17	35017957	missense	possibly damaging	0.57
R0538:Vwa7	UTSW	17	35022651	missense	probably damaging	1.00
R1121:Vwa7	UTSW	17	35017794	missense	probably damaging	1.00
R1659:Vwa7	UTSW	17	35019071	missense	probably benign	0.04
R1766:Vwa7	UTSW	17	35023943	critical splice donor site	probably null
R1777:Vwa7	UTSW	17	35024948	missense	probably damaging	1.00
R1793:Vwa7	UTSW	17	35024412	nonsense	probably null
R1874:Vwa7	UTSW	17	35017112	missense	probably benign	0.00
R2139:Vwa7	UTSW	17	35023430	missense	probably benign	0.00
R2248:Vwa7	UTSW	17	35019043	missense	probably benign	0.04
R2290:Vwa7	UTSW	17	35017211	missense	probably damaging	1.00
R2869:Vwa7	UTSW	17	35021242	missense	probably damaging	1.00
R2869:Vwa7	UTSW	17	35021242	missense	probably damaging	1.00
R2870:Vwa7	UTSW	17	35021242	missense	probably damaging	1.00
R2870:Vwa7	UTSW	17	35021242	missense	probably damaging	1.00
R2871:Vwa7	UTSW	17	35021242	missense	probably damaging	1.00
R2871:Vwa7	UTSW	17	35021242	missense	probably damaging	1.00
R2873:Vwa7	UTSW	17	35021242	missense	probably damaging	1.00
R2874:Vwa7	UTSW	17	35021242	missense	probably damaging	1.00
R3038:Vwa7	UTSW	17	35022661	missense	probably damaging	1.00
R3792:Vwa7	UTSW	17	35025159	splice site	probably null
R3970:Vwa7	UTSW	17	35017708	missense	probably damaging	1.00
R4612:Vwa7	UTSW	17	35023450	missense	probably damaging	0.96
R5013:Vwa7	UTSW	17	35022733	missense	probably damaging	1.00
R5068:Vwa7	UTSW	17	35024190	missense	probably benign	0.25
R5069:Vwa7	UTSW	17	35024190	missense	probably benign	0.25
R5070:Vwa7	UTSW	17	35024190	missense	probably benign	0.25
R5137:Vwa7	UTSW	17	35017846	missense	probably damaging	1.00
R5384:Vwa7	UTSW	17	35024926	splice site	probably null
R6170:Vwa7	UTSW	17	35021210	missense	possibly damaging	0.56
R6229:Vwa7	UTSW	17	35024265	missense	probably benign	0.00
R6249:Vwa7	UTSW	17	35023389	missense	probably benign	0.00
R6401:Vwa7	UTSW	17	35017310	splice site	probably null
R6429:Vwa7	UTSW	17	35024199	missense	probably benign	0.32
R6678:Vwa7	UTSW	17	35019800	missense	probably damaging	1.00
R6793:Vwa7	UTSW	17	35024891	missense	probably benign	0.06
R6966:Vwa7	UTSW	17	35017096	missense	probably benign
R7492:Vwa7	UTSW	17	35019044	missense	possibly damaging	0.86
R7903:Vwa7	UTSW	17	35017787	missense	probably damaging	1.00
R8191:Vwa7	UTSW	17	35019736	missense	probably damaging	0.96
R8728:Vwa7	UTSW	17	35017157	missense	probably damaging	1.00
R8961:Vwa7	UTSW	17	35019110	missense	probably damaging	1.00
R9037:Vwa7	UTSW	17	35017292	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- ATGTTGTCCTTCGAAGGGTCC -3'
(R):5'- GTTCACCGATGTCCTAAGATCAAG -3'

Sequencing Primer
(F):5'- TCCTTCGAAGGGTCCCAGAG -3'
(R):5'- CGATGTCCTAAGATCAAGATCCTGG -3'

Posted On

2020-09-15