Mutagenetix > Incidental Mutation

Incidental Mutation 'R4393:Vwa3b'

326443

Institutional Source

Beutler Lab

Gene Symbol

Vwa3b

Ensembl Gene

ENSMUSG00000050122

Gene Name

von Willebrand factor A domain containing 3B

Synonyms

4921511C04Rik, A230074B11Rik

MMRRC Submission

041128-MU

Accession Numbers

NCBI RefSeq: XM_003084438.1; MGI:1918103

Essential gene?

Probably non essential (E-score: 0.062) question?

Stock #

R4393 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

37026596-37187613 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 37045178 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 144 (V144A)

Ref Sequence

ENSEMBL: ENSMUSP00000027289 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000027289] [ENSMUST00000067178] [ENSMUST00000117172] [ENSMUST00000124404] [ENSMUST00000162449]

AlphaFold

A0A571BE33

Predicted Effect

probably damaging
Transcript: ENSMUST00000027289
AA Change: V144A

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

SMART Domains

Protein: ENSMUSP00000027289
Gene: ENSMUSG00000050122
AA Change: V144A

Domain	Start	End	E-Value	Type
Pfam:DUF4537	159	285	9.1e-36	PFAM
low complexity region	327	336	N/A	INTRINSIC
low complexity region	345	364	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000067178
AA Change: V144A

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000069700
Gene: ENSMUSG00000050122
AA Change: V144A

Domain	Start	End	E-Value	Type
Blast:VWA	112	272	7e-16	BLAST

Predicted Effect

probably damaging
Transcript: ENSMUST00000117172
AA Change: V144A

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000114022
Gene: ENSMUSG00000050122
AA Change: V144A

Domain	Start	End	E-Value	Type
Blast:VWA	112	272	7e-16	BLAST

Predicted Effect

probably damaging
Transcript: ENSMUST00000124404
AA Change: V144A

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000141690
Gene: ENSMUSG00000050122
AA Change: V144A

Domain	Start	End	E-Value	Type
Blast:VWA	112	272	5e-16	BLAST

Predicted Effect

probably damaging
Transcript: ENSMUST00000162449
AA Change: V144A

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000125460
Gene: ENSMUSG00000050122
AA Change: V144A

Domain	Start	End	E-Value	Type
Blast:VWA	112	272	7e-16	BLAST

Meta Mutation Damage Score

0.4910

Coding Region Coverage

1x: 99.6%
3x: 98.7%
10x: 96.5%
20x: 92.4%

Validation Efficiency

95% (71/75)

Allele List at MGI

All alleles(71) : Targeted(3) Gene trapped(68)

Other mutations in this stock

Total: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930433N12Rik	C	A	9: 3,134,944		noncoding transcript	Het
Adgrg4	T	G	X: 56,932,343	L2193V	probably damaging	Het
Adgrl1	T	C	8: 83,938,593	V1353A	probably benign	Het
Casc1	T	C	6: 145,194,578	T166A	possibly damaging	Het
Cep68	A	T	11: 20,238,544	N620K	probably benign	Het
Clcnkb	A	G	4: 141,412,236	S152P	probably benign	Het
Crybg3	A	G	16: 59,560,095		probably benign	Het
Cyp26c1	G	A	19: 37,686,657	R142H	probably damaging	Het
Dab1	C	T	4: 104,731,751	A524V	probably benign	Het
Dlg5	T	A	14: 24,177,989		probably null	Het
Ebf3	C	T	7: 137,225,157	R342H	probably damaging	Het
Ece2	T	C	16: 20,632,848	V380A	probably damaging	Het
Epb41l4a	C	T	18: 33,891,420		probably null	Het
Erbb3	G	T	10: 128,572,770	Q815K	probably damaging	Het
Ercc3	T	A	18: 32,265,621	M651K	probably benign	Het
Fam3b	C	A	16: 97,481,786		probably null	Het
Foxp2	A	C	6: 15,377,690		probably benign	Het
Gdf10	T	C	14: 33,932,738	Y401H	probably damaging	Het
Gm21738	G	C	14: 19,417,178	L117V	probably benign	Het
Gm6408	A	T	5: 146,482,337	D54V	probably damaging	Het
Gm8909	C	A	17: 36,161,969		probably benign	Het
Hcn4	A	G	9: 58,844,300	E403G	unknown	Het
Hjurp	GT	GTT	1: 88,266,524		probably null	Het
Hjurp	A	G	1: 88,266,561		probably benign	Het
Hyou1	T	A	9: 44,381,872	V125E	probably damaging	Het
Il11ra1	T	C	4: 41,768,577		probably null	Het
Immt	T	A	6: 71,872,800	S435T	probably benign	Het
Kcnip2	A	G	19: 45,812,230	L19P	probably benign	Het
Kctd2	T	C	11: 115,429,500		probably benign	Het
Mdga1	T	C	17: 29,850,517	D185G	probably damaging	Het
Mdn1	C	T	4: 32,754,482	T4666M	possibly damaging	Het
Mfsd13a	C	T	19: 46,371,992	R328C	probably damaging	Het
Msl2	A	G	9: 101,101,477	E350G	probably damaging	Het
Muc4	C	A	16: 32,754,529	H1468N	probably benign	Het
Myo3a	A	T	2: 22,577,854	K373N	probably damaging	Het
Nr5a1	T	C	2: 38,694,219	E396G	probably damaging	Het
Ogdh	G	A	11: 6,316,772	G141D	probably damaging	Het
Olfr1133	A	T	2: 87,645,912	C70*	probably null	Het
Olfr1491	T	C	19: 13,705,190	I121T	possibly damaging	Het
Olfr92	T	C	17: 37,114,084		probably benign	Het
Orc2	C	A	1: 58,467,650		probably null	Het
P4ha3	C	T	7: 100,305,607	P291S	probably benign	Het
Pign	T	C	1: 105,522,026	K925R	probably benign	Het
Plekhm1	A	G	11: 103,376,965	S727P	possibly damaging	Het
Prr36	G	T	8: 4,214,901		probably benign	Het
Prrt3	A	G	6: 113,494,946	L755P	probably benign	Het
Secisbp2	A	G	13: 51,654,466	H89R	probably damaging	Het
Sgms2	A	T	3: 131,341,817		probably null	Het
Slc35d3	T	C	10: 19,849,606		probably null	Het
Slu7	T	A	11: 43,439,269	N174K	possibly damaging	Het
Teddm1a	G	T	1: 153,892,446	D219Y	probably damaging	Het
Tgtp1	C	A	11: 48,987,623	G85V	probably damaging	Het
Tmem51	T	C	4: 142,031,931	T169A	probably benign	Het
Tmem69	C	T	4: 116,554,767		probably null	Het
Ugt1a1	CAGAGAGAGAGAGA	CAGAGAGAGAGA	1: 88,211,984		probably benign	Het
Ugt1a10	C	T	1: 88,215,123	P113L	probably damaging	Het
Vmn2r79	A	G	7: 87,001,891	H166R	possibly damaging	Het
Zdhhc21	A	G	4: 82,847,654	C15R	possibly damaging	Het
Zfp142	T	C	1: 74,572,060	T756A	probably benign	Het
Zfp606	C	T	7: 12,492,849	S241F	probably damaging	Het
Zfp804a	A	T	2: 82,256,921	T365S	probably benign	Het

Other mutations in Vwa3b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01404:Vwa3b	APN	1	37154036	missense	probably benign	0.28
IGL02236:Vwa3b	APN	1	37154051	splice site	probably benign
IGL02653:Vwa3b	APN	1	37175565	utr 3 prime	probably benign
IGL02823:Vwa3b	APN	1	37186904	utr 3 prime	probably benign
IGL03030:Vwa3b	APN	1	37044968	missense	probably damaging	1.00
P0014:Vwa3b	UTSW	1	37173914	utr 3 prime	probably benign
R0035:Vwa3b	UTSW	1	37165689	missense	possibly damaging	0.69
R0102:Vwa3b	UTSW	1	37135514	missense	probably damaging	1.00
R0556:Vwa3b	UTSW	1	37164485	splice site	probably benign
R1061:Vwa3b	UTSW	1	37157430	missense	probably damaging	1.00
R1386:Vwa3b	UTSW	1	37051881	critical splice donor site	probably null
R2441:Vwa3b	UTSW	1	37143069	unclassified	probably benign
R3117:Vwa3b	UTSW	1	37109077	missense	possibly damaging	0.95
R3119:Vwa3b	UTSW	1	37109077	missense	possibly damaging	0.95
R4081:Vwa3b	UTSW	1	37035824	missense	probably damaging	0.99
R4897:Vwa3b	UTSW	1	37114603	splice site	probably benign
R4950:Vwa3b	UTSW	1	37085332	missense	probably benign	0.00
R4978:Vwa3b	UTSW	1	37115671	missense	probably damaging	0.99
R5141:Vwa3b	UTSW	1	37187021	utr 3 prime	probably benign
R5286:Vwa3b	UTSW	1	37045039	missense	probably damaging	1.00
R5356:Vwa3b	UTSW	1	37114583	missense	probably damaging	0.99
R5426:Vwa3b	UTSW	1	37115671	missense	probably damaging	0.99
R5480:Vwa3b	UTSW	1	37100706	nonsense	probably null
R5727:Vwa3b	UTSW	1	37135519	missense	probably benign	0.10
R5876:Vwa3b	UTSW	1	37076439	missense	probably damaging	0.97
R6191:Vwa3b	UTSW	1	37114531	missense	possibly damaging	0.92
R6219:Vwa3b	UTSW	1	37100698	missense	possibly damaging	0.92
R6250:Vwa3b	UTSW	1	37051885	splice site	probably null
R6281:Vwa3b	UTSW	1	37123982	missense	probably damaging	1.00
R6419:Vwa3b	UTSW	1	37157376	missense	probably benign	0.01
R6467:Vwa3b	UTSW	1	37085286	missense	probably benign	0.01
R6512:Vwa3b	UTSW	1	37063642	intron	probably benign
R6541:Vwa3b	UTSW	1	37051761	missense	probably damaging	1.00
R6724:Vwa3b	UTSW	1	37045031	missense	probably damaging	1.00
R6728:Vwa3b	UTSW	1	37157372	missense	probably damaging	1.00
R7046:Vwa3b	UTSW	1	37173878	missense	probably benign
R7117:Vwa3b	UTSW	1	37135553	missense
R7304:Vwa3b	UTSW	1	37164505	missense	probably damaging	1.00
R7402:Vwa3b	UTSW	1	37114597	nonsense	probably null
R7762:Vwa3b	UTSW	1	37124045	missense	probably damaging	1.00
R7911:Vwa3b	UTSW	1	37154026	missense	probably damaging	1.00
R8213:Vwa3b	UTSW	1	37128939	missense	probably benign	0.07
R8402:Vwa3b	UTSW	1	37165798	missense	probably damaging	1.00
R8697:Vwa3b	UTSW	1	37076380	missense	probably benign	0.09
R8758:Vwa3b	UTSW	1	37137792	missense
R8874:Vwa3b	UTSW	1	37035758	missense	possibly damaging	0.73
R9011:Vwa3b	UTSW	1	37115686	missense	probably damaging	1.00
R9012:Vwa3b	UTSW	1	37085310	missense	probably benign	0.15
R9015:Vwa3b	UTSW	1	37164516	missense	possibly damaging	0.71
R9102:Vwa3b	UTSW	1	37135512	start codon destroyed	probably null
R9263:Vwa3b	UTSW	1	37060412	missense	probably benign	0.43
R9277:Vwa3b	UTSW	1	37157453	critical splice donor site	probably null
R9294:Vwa3b	UTSW	1	37035801	missense	probably damaging	0.99
R9341:Vwa3b	UTSW	1	37114534	missense	probably damaging	1.00
R9343:Vwa3b	UTSW	1	37114534	missense	probably damaging	1.00
R9502:Vwa3b	UTSW	1	37060439	missense	probably damaging	0.99
R9758:Vwa3b	UTSW	1	37042357	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- GTGGATTACTTAACACAAGCCG -3'
(R):5'- AACCTGAGGTGTCCTGAGAAG -3'

Sequencing Primer
(F):5'- CACAAGCCGTGGAGAGCTAC -3'
(R):5'- CCTGAGAAGTGCATATAAAAGTTCCC -3'

Posted On

2015-07-06