Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02442:Vwa5a'

293447

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Vwa5a

Ensembl Gene

ENSMUSG00000023186

Gene Name

von Willebrand factor A domain containing 5A

Synonyms

Loh11cr2a, 5830475I06Rik, BCSC-1

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02442

Quality Score

Status

Chromosome

Chromosomal Location

38718268-38743337 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 38734784 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Valine at position 483 (M483V)

Ref Sequence

ENSEMBL: ENSMUSP00000113596 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000001544] [ENSMUST00000118144]

AlphaFold

Q99KC8

Predicted Effect

probably benign
Transcript: ENSMUST00000001544
AA Change: M483V

PolyPhen 2 Score 0.023 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000001544
Gene: ENSMUSG00000023186
AA Change: M483V

Domain	Start	End	E-Value	Type
VIT	1	131	2.59e-61	SMART
VWA	279	460	2.61e-12	SMART
low complexity region	615	629	N/A	INTRINSIC
low complexity region	664	678	N/A	INTRINSIC
Blast:VWA	681	713	2e-8	BLAST

Predicted Effect

probably benign
Transcript: ENSMUST00000118144
AA Change: M483V

PolyPhen 2 Score 0.023 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000113596
Gene: ENSMUSG00000023186
AA Change: M483V

Domain	Start	End	E-Value	Type
VIT	1	131	2.59e-61	SMART
VWA	279	460	2.61e-12	SMART
low complexity region	615	629	N/A	INTRINSIC
low complexity region	664	678	N/A	INTRINSIC
Blast:VWA	681	713	2e-8	BLAST

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000130295

Predicted Effect

probably benign
Transcript: ENSMUST00000137972

SMART Domains

Protein: ENSMUSP00000121104
Gene: ENSMUSG00000023186

Domain	Start	End	E-Value	Type
low complexity region	1	12	N/A	INTRINSIC
low complexity region	45	59	N/A	INTRINSIC
Blast:VWA	62	94	2e-10	BLAST

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000149376

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000152295

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700006E09Rik	T	C	11: 101,990,826	V116A	probably benign	Het
Adap2	A	G	11: 80,177,206	E348G	probably damaging	Het
Ahnak	G	A	19: 9,004,016	G888D	probably damaging	Het
Cdc45	C	T	16: 18,798,729	M200I	probably benign	Het
Csde1	T	C	3: 103,054,819	C649R	probably benign	Het
Cym	A	C	3: 107,214,285	D230E	probably damaging	Het
Dnah1	A	T	14: 31,287,878	I1911N	probably damaging	Het
Fam60a	A	T	6: 148,928,507		probably null	Het
Fat1	A	G	8: 44,950,323	H37R	probably benign	Het
Ggt6	T	C	11: 72,436,806	V146A	possibly damaging	Het
Glud1	T	A	14: 34,335,438	L54*	probably null	Het
Grk6	A	G	13: 55,458,937		probably benign	Het
Gsta4	G	A	9: 78,209,165	V219I	probably benign	Het
Gucy1a2	G	A	9: 3,865,385	V620M	probably damaging	Het
Hspe1	T	C	1: 55,089,042		probably benign	Het
Icmt	T	C	4: 152,298,716	V76A	possibly damaging	Het
Ifrd1	A	G	12: 40,216,317		probably benign	Het
Lgals12	T	C	19: 7,606,654		probably benign	Het
Lypla1	T	C	1: 4,832,387		probably benign	Het
Map1b	A	T	13: 99,508,198	W66R	probably damaging	Het
Matn3	T	A	12: 8,967,678	C443*	probably null	Het
Mup8	T	A	4: 60,219,695	R191W	probably damaging	Het
Mycbp2	T	C	14: 103,314,375	K140R	probably benign	Het
Ndfip1	C	T	18: 38,447,736	S66L	probably damaging	Het
Neu1	A	G	17: 34,934,469	I323V	probably benign	Het
Nup205	A	T	6: 35,190,068	T341S	probably benign	Het
Olfr1303	G	A	2: 111,813,991	T245I	probably benign	Het
Olfr1466	T	A	19: 13,342,120	C121S	probably benign	Het
Olfr1469	T	A	19: 13,410,987	N139K	probably benign	Het
Ovch2	T	A	7: 107,796,548	I88F	possibly damaging	Het
Pkd1	T	A	17: 24,565,226	S249T	probably benign	Het
Plekhg3	A	T	12: 76,578,353	Q1324L	probably benign	Het
Ppara	T	A	15: 85,801,143	V431E	probably benign	Het
Prkaa1	T	G	15: 5,176,888	H408Q	probably damaging	Het
Sap25	T	A	5: 137,641,995	N108K	probably benign	Het
Setd5	A	C	6: 113,110,380	I81L	possibly damaging	Het
Sri	T	A	5: 8,062,411	M78K	probably damaging	Het
Tyro3	A	G	2: 119,808,868	N352S	probably benign	Het
Ubr5	T	A	15: 38,037,901	E332V	possibly damaging	Het
Vmn2r19	G	T	6: 123,309,662	V85F	possibly damaging	Het
Vmn2r53	A	T	7: 12,581,729	V721D	probably damaging	Het
Zfp786	T	A	6: 47,821,367	Q212H	probably benign	Het

Other mutations in Vwa5a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00092:Vwa5a	APN	9	38737814	splice site	probably null
IGL00966:Vwa5a	APN	9	38723379	missense	probably benign	0.24
IGL01597:Vwa5a	APN	9	38733865	missense	probably damaging	1.00
IGL01950:Vwa5a	APN	9	38726970	missense	probably damaging	1.00
IGL02008:Vwa5a	APN	9	38737776	missense	probably benign	0.08
IGL02326:Vwa5a	APN	9	38737956	missense	probably benign
IGL02378:Vwa5a	APN	9	38733970	missense	probably benign	0.41
IGL02458:Vwa5a	APN	9	38726963	missense	possibly damaging	0.79
IGL02570:Vwa5a	APN	9	38734871	unclassified	probably benign
IGL03068:Vwa5a	APN	9	38734847	missense	probably benign	0.45
R0126:Vwa5a	UTSW	9	38737807	splice site	probably null
R0325:Vwa5a	UTSW	9	38728665	missense	probably damaging	1.00
R0617:Vwa5a	UTSW	9	38723895	missense	probably damaging	1.00
R0928:Vwa5a	UTSW	9	38728007	missense	probably damaging	1.00
R1334:Vwa5a	UTSW	9	38734741	missense	probably benign	0.01
R1446:Vwa5a	UTSW	9	38733968	missense	possibly damaging	0.95
R1708:Vwa5a	UTSW	9	38727832	missense	probably benign
R1986:Vwa5a	UTSW	9	38737814	splice site	probably benign
R2024:Vwa5a	UTSW	9	38736061	missense	probably damaging	0.98
R2230:Vwa5a	UTSW	9	38733878	missense	probably null	1.00
R2252:Vwa5a	UTSW	9	38728080	missense	probably damaging	1.00
R2278:Vwa5a	UTSW	9	38723207	missense	probably damaging	1.00
R3912:Vwa5a	UTSW	9	38734743	missense	probably damaging	0.97
R3913:Vwa5a	UTSW	9	38734743	missense	probably damaging	0.97
R4172:Vwa5a	UTSW	9	38723870	missense	probably damaging	0.98
R4244:Vwa5a	UTSW	9	38737816	splice site	probably benign
R4510:Vwa5a	UTSW	9	38722557	missense	possibly damaging	0.60
R4511:Vwa5a	UTSW	9	38722557	missense	possibly damaging	0.60
R4549:Vwa5a	UTSW	9	38737925	missense	probably benign	0.09
R4591:Vwa5a	UTSW	9	38735620	missense	possibly damaging	0.94
R4639:Vwa5a	UTSW	9	38727114	critical splice donor site	probably null
R4811:Vwa5a	UTSW	9	38735953	missense	probably benign	0.00
R4911:Vwa5a	UTSW	9	38737972	missense	probably benign	0.03
R4936:Vwa5a	UTSW	9	38736198	missense	probably benign	0.00
R4989:Vwa5a	UTSW	9	38722630	missense	probably benign	0.40
R5370:Vwa5a	UTSW	9	38741216	missense	probably benign	0.02
R5596:Vwa5a	UTSW	9	38722578	missense	probably damaging	1.00
R5914:Vwa5a	UTSW	9	38741742	missense	probably benign	0.00
R6207:Vwa5a	UTSW	9	38722672	missense	probably damaging	1.00
R6486:Vwa5a	UTSW	9	38733878	missense	probably null	1.00
R7666:Vwa5a	UTSW	9	38733963	missense	probably benign	0.06
R7683:Vwa5a	UTSW	9	38734829	missense	probably damaging	1.00
R7763:Vwa5a	UTSW	9	38741162	missense	possibly damaging	0.93
R7839:Vwa5a	UTSW	9	38723503	missense	probably damaging	0.98
R7996:Vwa5a	UTSW	9	38727828	nonsense	probably null
R8024:Vwa5a	UTSW	9	38736020	nonsense	probably null
R8491:Vwa5a	UTSW	9	38741180	missense	probably damaging	0.99
R9572:Vwa5a	UTSW	9	38737943	missense	probably benign	0.10
X0022:Vwa5a	UTSW	9	38735962	missense	probably damaging	1.00
X0067:Vwa5a	UTSW	9	38723251	critical splice donor site	probably null

Posted On

2015-04-16