Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02458:Vwa5a'

294516

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

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02458

Quality Score

Status

Chromosome

Chromosomal Location

38718268-38743337 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 38726963 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 261 (S261P)

Ref Sequence

ENSEMBL: ENSMUSP00000113596 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000001544] [ENSMUST00000118144] [ENSMUST00000129598]

AlphaFold

Q99KC8

Predicted Effect

possibly damaging
Transcript: ENSMUST00000001544
AA Change: S261P

PolyPhen 2 Score 0.791 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000001544
Gene: ENSMUSG00000023186
AA Change: S261P

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

possibly damaging
Transcript: ENSMUST00000118144
AA Change: S261P

PolyPhen 2 Score 0.791 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000113596
Gene: ENSMUSG00000023186
AA Change: S261P

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: ENSMUST00000129598

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000149376

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam25	A	T	8: 40,753,807	I37L	probably benign	Het
Alpk1	A	G	3: 127,681,319		probably null	Het
Ankrd33	T	C	15: 101,116,607	F8L	probably damaging	Het
Avil	A	G	10: 127,016,353	K669R	probably benign	Het
Bcor	G	T	X: 12,048,510	L1165I	probably damaging	Het
C7	A	G	15: 5,059,389		probably benign	Het
Cc2d2a	A	G	5: 43,718,554	I958V	probably benign	Het
Cenpe	A	T	3: 135,230,108	K435*	probably null	Het
Chrna7	G	A	7: 63,106,094	L235F	probably damaging	Het
Col6a3	C	A	1: 90,779,197	V2065L	unknown	Het
Copb1	A	T	7: 114,246,785	N183K	probably benign	Het
Cpn2	G	A	16: 30,260,835	A16V	probably benign	Het
Cul1	A	G	6: 47,525,608	K769E	possibly damaging	Het
Ddx58	A	G	4: 40,229,536	S83P	probably damaging	Het
Deup1	C	T	9: 15,592,360	V302M	probably benign	Het
Dnah17	T	C	11: 118,036,350	K3871E	probably damaging	Het
Dnah6	A	G	6: 73,027,448	V3844A	probably benign	Het
Dnah7a	A	T	1: 53,618,328	L763*	probably null	Het
Donson	A	T	16: 91,681,176	W461R	probably damaging	Het
Dpp10	T	C	1: 123,341,689	I664V	probably benign	Het
Dusp8	T	A	7: 142,082,747	T369S	probably benign	Het
Dync2h1	A	T	9: 7,117,422	L56Q	probably damaging	Het
Ecd	A	T	14: 20,324,477	S532T	probably benign	Het
Frg2f1	G	A	4: 119,530,957	T115I	probably damaging	Het
Gpatch2l	A	G	12: 86,288,961		probably benign	Het
Gtf3c2	T	A	5: 31,159,523		probably null	Het
Haghl	T	C	17: 25,783,496		probably benign	Het
Hoxc8	A	T	15: 102,992,749	N208I	probably damaging	Het
Igf2	T	C	7: 142,654,048	D115G	probably benign	Het
Jag2	T	A	12: 112,915,993	D385V	probably damaging	Het
Laptm4b	A	G	15: 34,258,742	H54R	probably benign	Het
Lrp2	A	G	2: 69,521,773	S640P	probably damaging	Het
Map3k8	A	C	18: 4,334,660	V328G	probably damaging	Het
Mfsd13a	A	G	19: 46,372,247	E388G	probably damaging	Het
Ms4a13	G	A	19: 11,171,928	T168I	probably benign	Het
Mtg1	C	A	7: 140,150,172	Q294K	probably benign	Het
Myh3	C	T	11: 67,096,940	A1413V	possibly damaging	Het
Neo1	A	T	9: 58,893,867		probably benign	Het
Ogfod3	T	C	11: 121,200,923	E119G	probably benign	Het
Olfr1250	A	G	2: 89,657,348	L31P	probably damaging	Het
Olfr1331	A	G	4: 118,869,300	N173S	possibly damaging	Het
Olfr331	A	T	11: 58,502,247	M109K	probably benign	Het
Olfr800	A	T	10: 129,660,606	I267F	probably benign	Het
Olfr988	G	A	2: 85,353,662	T88I	probably benign	Het
Parvb	G	T	15: 84,303,434	D248Y	probably damaging	Het
Pcdh11x	A	T	X: 120,400,618	H586L	possibly damaging	Het
Phactr2	T	C	10: 13,261,828	E120G	probably damaging	Het
Ppfibp2	A	T	7: 107,742,964	Q775L	probably damaging	Het
Rcbtb1	A	G	14: 59,229,994	Y427C	probably damaging	Het
Rftn2	A	T	1: 55,211,192	C131*	probably null	Het
Rps6ka2	A	G	17: 7,289,003	D474G	probably benign	Het
Rsbn1l	T	C	5: 20,951,736	E17G	probably damaging	Het
Ryr2	T	C	13: 11,705,699	M2688V	probably benign	Het
Slc22a18	C	A	7: 143,492,837		probably benign	Het
Smarcc1	A	G	9: 110,132,126		probably benign	Het
Soat2	T	C	15: 102,162,115	V451A	probably damaging	Het
Sptlc2	A	T	12: 87,309,893		probably benign	Het
Tada1	C	T	1: 166,392,634	L308F	probably damaging	Het
Tango2	A	T	16: 18,310,867		probably null	Het
Tbc1d15	A	T	10: 115,229,206	V158D	probably damaging	Het
Tcrg-V3	A	G	13: 19,243,253	Y102C	probably damaging	Het
Tmx2	A	T	2: 84,673,244		probably benign	Het
Tpte	T	A	8: 22,305,858	I79K	probably benign	Het
Trav6-1	A	G	14: 52,638,742	I40V	probably benign	Het
Ubash3a	T	C	17: 31,231,481	S377P	possibly damaging	Het
Vmn2r7	T	C	3: 64,693,025	D575G	probably damaging	Het
Vps41	A	G	13: 18,853,479	D704G	possibly damaging	Het
Zc3hav1	A	G	6: 38,340,329	V112A	probably damaging	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
IGL02442:Vwa5a	APN	9	38734784	missense	probably benign	0.02
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