Mutagenetix > Incidental Mutation

Incidental Mutation 'R0617:Vwa5a'

58438

Institutional Source

Beutler Lab

Gene Symbol

Vwa5a

Ensembl Gene

ENSMUSG00000023186

Gene Name

von Willebrand factor A domain containing 5A

Synonyms

Loh11cr2a, 5830475I06Rik, BCSC-1

MMRRC Submission

038806-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0617 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

38718268-38743337 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 38723895 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 232 (I232N)

Ref Sequence

ENSEMBL: ENSMUSP00000113596 (fasta)

Gene Model

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

AlphaFold

Q99KC8

Predicted Effect

probably damaging
Transcript: ENSMUST00000001544
AA Change: I232N

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000001544
Gene: ENSMUSG00000023186
AA Change: I232N

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 damaging
Transcript: ENSMUST00000118144
AA Change: I232N

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000113596
Gene: ENSMUSG00000023186
AA Change: I232N

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

Meta Mutation Damage Score

0.6360

Coding Region Coverage

1x: 99.4%
3x: 98.9%
10x: 97.6%
20x: 95.5%

Validation Efficiency

98% (130/133)

Allele List at MGI

Other mutations in this stock

Total: 130 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700017D01Rik	C	A	19: 11,112,400	L40F	probably damaging	Het
4930555F03Rik	A	T	8: 49,500,492		noncoding transcript	Het
A630073D07Rik	T	C	6: 132,626,737		probably benign	Het
Abca16	G	A	7: 120,433,611		probably benign	Het
Abca5	A	T	11: 110,279,689	D1265E	probably damaging	Het
Abcf1	C	T	17: 35,961,187	V312I	probably benign	Het
Abhd12	T	A	2: 150,846,365		probably null	Het
Adam23	A	G	1: 63,543,147	H318R	probably benign	Het
Adcy2	T	A	13: 68,678,606	K660*	probably null	Het
Adgrf3	T	C	5: 30,195,080	T972A	probably benign	Het
Adipoq	T	A	16: 23,155,410	D62E	probably damaging	Het
Akap2	T	C	4: 57,829,434		probably benign	Het
Alk	G	T	17: 72,603,583	P43T	probably damaging	Het
Arap2	AT	ATT	5: 62,649,907		probably benign	Het
Arhgef28	G	T	13: 97,970,355	T687K	probably benign	Het
Arrb1	T	C	7: 99,594,677	L278P	probably damaging	Het
Atad2b	C	A	12: 4,937,401	D76E	probably benign	Het
Atm	A	T	9: 53,458,941	Y2290*	probably null	Het
Atrn	T	A	2: 130,995,085		probably null	Het
Bpifb1	A	G	2: 154,212,947	D253G	possibly damaging	Het
Bpifb9b	C	T	2: 154,319,625	T559M	probably benign	Het
Bsn	T	C	9: 108,107,240	E3205G	unknown	Het
Cacna1c	T	C	6: 118,602,213	Y1599C	probably damaging	Het
Ccdc40	A	G	11: 119,242,804	D590G	probably damaging	Het
Ccdc68	A	G	18: 69,946,552		probably null	Het
Ccdc97	G	A	7: 25,714,420	R279C	probably damaging	Het
Ccm2l	A	G	2: 153,070,900	T120A	probably damaging	Het
Cfap54	T	C	10: 92,829,650		probably benign	Het
Cfh	A	G	1: 140,100,883	S1043P	probably benign	Het
Chil3	T	C	3: 106,155,756	K173E	probably benign	Het
Cib2	T	C	9: 54,554,496	D26G	possibly damaging	Het
Col24a1	T	C	3: 145,314,120	V84A	probably damaging	Het
Csn3	T	C	5: 87,929,871	Y79H	probably benign	Het
Ddx47	T	A	6: 135,017,122	V149E	probably damaging	Het
Dennd5b	A	T	6: 149,033,262		probably benign	Het
Desi1	T	C	15: 81,998,198	N109D	probably damaging	Het
Fam13c	T	C	10: 70,536,352		probably benign	Het
Fam234a	A	T	17: 26,216,617	D264E	probably benign	Het
Fanca	A	G	8: 123,288,070	F831S	probably damaging	Het
Fancm	C	T	12: 65,097,317	R518*	probably null	Het
Fat2	A	G	11: 55,311,843	V135A	possibly damaging	Het
Fbxl17	A	C	17: 63,384,992	F42V	probably damaging	Het
Fgd3	A	T	13: 49,264,697	V631E	possibly damaging	Het
Fhod3	G	A	18: 25,112,679		probably benign	Het
Focad	T	C	4: 88,121,288		probably benign	Het
Foxn4	C	A	5: 114,261,068		probably benign	Het
Gm1673	T	C	5: 33,983,552		probably benign	Het
Gm2381	A	T	7: 42,819,978	C241S	probably damaging	Het
Gm6483	T	G	8: 19,693,709	F117V	probably damaging	Het
Hectd4	T	C	5: 121,343,232		probably benign	Het
Hecw1	T	A	13: 14,280,442	Q676L	probably benign	Het
Hipk2	G	A	6: 38,747,485	R437C	possibly damaging	Het
Ifnar1	T	C	16: 91,501,682	Y396H	probably damaging	Het
Ints5	A	T	19: 8,896,019	K447N	probably damaging	Het
Iqsec1	T	C	6: 90,689,970	Y495C	probably damaging	Het
Itga5	C	T	15: 103,356,315		probably null	Het
Kcnk4	T	A	19: 6,928,160		probably benign	Het
Kmo	A	G	1: 175,647,190	T174A	possibly damaging	Het
Krt36	T	C	11: 100,102,275	D458G	probably damaging	Het
Krtap16-1	G	T	11: 99,986,495	P28T	probably damaging	Het
Lama3	T	C	18: 12,419,258		probably null	Het
Lrrc9	T	C	12: 72,483,014	S920P	probably damaging	Het
Lrrk2	A	T	15: 91,752,278	Y1485F	probably benign	Het
Mical1	C	T	10: 41,481,315	A372V	probably damaging	Het
Mtr	C	T	13: 12,221,432	R636Q	probably benign	Het
Muc4	A	T	16: 32,752,107	T662S	possibly damaging	Het
Myo10	G	A	15: 25,738,005	V546M	probably damaging	Het
Nbeal1	G	A	1: 60,281,832	W2034*	probably null	Het
Nhlrc3	T	C	3: 53,458,623	T150A	probably damaging	Het
Nkx2-1	T	C	12: 56,534,855	H69R	possibly damaging	Het
Nlrp4g	A	T	9: 124,349,540		noncoding transcript	Het
Nod2	A	G	8: 88,653,231	N120S	probably benign	Het
Nol8	T	C	13: 49,654,445	F46L	possibly damaging	Het
Ntrk1	T	C	3: 87,783,933	D308G	possibly damaging	Het
Olfr1036	A	G	2: 86,075,141	M134V	probably benign	Het
Olfr1124	A	G	2: 87,434,661	D58G	probably damaging	Het
Olfr1196	A	G	2: 88,700,696	V211A	probably damaging	Het
Olfr1459	T	C	19: 13,146,363	M99V	probably benign	Het
Olfr1477	C	A	19: 13,502,536	N64K	probably damaging	Het
Olfr313	T	C	11: 58,817,149	V47A	probably damaging	Het
Olfr466	A	T	13: 65,152,878	Y218F	possibly damaging	Het
Olfr640	A	T	7: 104,021,989	S110T	probably damaging	Het
Oog3	A	T	4: 144,160,214	V112D	probably benign	Het
Pcdhb8	C	T	18: 37,357,047	R593C	probably benign	Het
Pgm3	A	G	9: 86,556,190		probably null	Het
Pirt	T	A	11: 66,926,172	V103E	probably damaging	Het
Plxnc1	T	A	10: 94,799,368	D1332V	probably damaging	Het
Ppfia4	A	T	1: 134,328,780	V122E	probably damaging	Het
Pramef17	A	G	4: 143,993,518		probably benign	Het
Prmt2	C	T	10: 76,208,683		probably benign	Het
Prrc2a	G	T	17: 35,153,560	P1702T	probably damaging	Het
Prss39	A	T	1: 34,500,198	H173L	probably damaging	Het
Rabl6	A	G	2: 25,586,866		probably null	Het
Rb1cc1	T	A	1: 6,248,790	I794K	possibly damaging	Het
Reln	T	C	5: 21,920,537	D2716G	probably damaging	Het
Sbf2	ACC	AC	7: 110,330,683		probably null	Het
Sema6d	T	A	2: 124,660,745	F583L	possibly damaging	Het
Setx	T	A	2: 29,146,807	H1101Q	possibly damaging	Het
Sis	A	G	3: 72,965,605	C67R	probably damaging	Het
Skint1	T	A	4: 112,029,399		probably benign	Het
Smg6	C	A	11: 75,162,931	T1413K	probably benign	Het
Spata31d1a	A	T	13: 59,702,259	I685N	possibly damaging	Het
Spef2	T	A	15: 9,592,758	N1499I	probably damaging	Het
Stk11ip	T	A	1: 75,532,288		probably null	Het
Stxbp1	A	C	2: 32,802,783	I407S	probably damaging	Het
Svil	T	C	18: 5,117,002	S2059P	probably damaging	Het
Syne1	C	T	10: 5,350,933	V932M	probably damaging	Het
Tacc1	A	C	8: 25,178,004		probably benign	Het
Tbc1d13	C	A	2: 30,135,564		probably benign	Het
Tbc1d15	A	C	10: 115,239,299	D59E	probably damaging	Het
Tcaf2	A	G	6: 42,642,511	F194S	probably damaging	Het
Terf2ip	T	A	8: 112,011,495	M5K	probably benign	Het
Tgfbr2	A	T	9: 116,158,320	D40E	probably benign	Het
Tm4sf5	T	A	11: 70,510,669	S165T	probably damaging	Het
Tmprss3	A	T	17: 31,193,912	C129S	probably damaging	Het
Tmx2	T	C	2: 84,672,396	D256G	probably benign	Het
Tnr	A	G	1: 159,868,103	D532G	probably damaging	Het
Tnrc18	T	A	5: 142,776,739	H465L	unknown	Het
Togaram2	A	T	17: 71,700,509	Q350L	possibly damaging	Het
Topaz1	G	A	9: 122,749,906	C627Y	possibly damaging	Het
Tpx2	A	T	2: 152,873,138	Q93L	probably benign	Het
Trim54	T	C	5: 31,136,182		probably null	Het
Troap	T	A	15: 99,082,660	C574S	probably damaging	Het
Ubr4	T	C	4: 139,479,062		probably null	Het
Vmn2r51	A	G	7: 10,100,469	V214A	possibly damaging	Het
Vmn2r66	A	T	7: 84,995,276	M642K	probably benign	Het
Zcchc6	A	T	13: 59,816,855		probably null	Het
Zfp820	A	T	17: 21,819,704	S214R	probably damaging	Het
Zfp955b	A	T	17: 33,305,463	S43R	probably damaging	Het
Zgrf1	C	T	3: 127,588,038	T1162M	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
IGL02442:Vwa5a	APN	9	38734784	missense	probably benign	0.02
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
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

Predicted Primers

PCR Primer
(F):5'- GCTCCTGATATAAGAAGTCTGCAACCC -3'
(R):5'- TCAGCACACCATGTAAAGCATGAGG -3'

Sequencing Primer
(F):5'- AGTCTGCAACCCTGAACTCTG -3'
(R):5'- CTCTATGTGACTTAGCCTAAAGGAC -3'

Posted On

2013-07-11