Mutagenetix > Incidental Mutations

Incidental Mutation 'R8874:Vwa3b'

676446

Institutional Source

Beutler Lab

Gene Symbol

Vwa3b

Ensembl Gene

ENSMUSG00000050122

Gene Name

von Willebrand factor A domain containing 3B

Synonyms

4921511C04Rik, A230074B11Rik

Accession Numbers

NCBI RefSeq: XM_003084438.1; MGI:1918103

Is this an essential gene?

Probably non essential (E-score: 0.063) question?

Stock #

R8874 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

37026596-37187613 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 37035758 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Valine at position 2 (A2V)

Ref Sequence

ENSEMBL: ENSMUSP00000125460 (fasta)

Gene Model

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

AlphaFold

A0A571BE33

Predicted Effect

possibly damaging
Transcript: ENSMUST00000027289
AA Change: A2V

PolyPhen 2 Score 0.819 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000027289
Gene: ENSMUSG00000050122
AA Change: A2V

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

SMART Domains

Protein: ENSMUSP00000069700
Gene: ENSMUSG00000050122
AA Change: A2V

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000117172
AA Change: A2V

PolyPhen 2 Score 0.731 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000114022
Gene: ENSMUSG00000050122
AA Change: A2V

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000124404
AA Change: A2V

PolyPhen 2 Score 0.731 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000141690
Gene: ENSMUSG00000050122
AA Change: A2V

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000162449
AA Change: A2V

PolyPhen 2 Score 0.731 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000125460
Gene: ENSMUSG00000050122
AA Change: A2V

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

Validation Efficiency

98% (53/54)

Allele List at MGI

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

Other mutations in this stock

Total: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb1b	A	G	5: 8,825,671	M615V	possibly damaging	Het
Bud31	T	C	5: 145,142,569		probably null	Het
Ccdc42	A	G	11: 68,594,570	K105E	probably damaging	Het
Cenpq	A	G	17: 40,931,660	S93P	probably damaging	Het
Cfh	A	G	1: 140,086,421	F1222L	probably damaging	Het
Cpxm2	A	T	7: 132,106,281		probably null	Het
Cubn	T	C	2: 13,360,346	D1627G	possibly damaging	Het
Diras2	T	C	13: 52,507,701	E190G	possibly damaging	Het
Dpyd	G	C	3: 118,999,332	A563P	probably damaging	Het
Efcab8	T	A	2: 153,798,649	N343K		Het
Fam26d	A	G	10: 34,044,268	M1T	probably null	Het
Gbp2b	A	G	3: 142,608,279	E440G	probably benign	Het
Ghrhr	T	C	6: 55,378,906	F30L	probably benign	Het
Gm3404	T	A	5: 146,528,143	V231E	possibly damaging	Het
Gramd4	A	G	15: 86,100,892	H143R	probably damaging	Het
Greb1l	A	T	18: 10,544,896	E1408V	probably benign	Het
Hdgfl1	T	G	13: 26,770,024	Y22S	probably damaging	Het
Heatr1	T	A	13: 12,430,912	V1590D	probably damaging	Het
Hecw2	A	T	1: 53,904,449		probably benign	Het
Igkv8-30	C	A	6: 70,117,166	R87L	probably damaging	Het
Il18rap	T	A	1: 40,525,346	C179S	probably damaging	Het
Jph4	T	C	14: 55,114,077	T161A	possibly damaging	Het
Klhdc7a	A	T	4: 139,967,585	M17K	probably damaging	Het
Kpnb1	T	C	11: 97,165,383	N699S	probably benign	Het
Lama3	T	C	18: 12,449,586		probably null	Het
Lca5	A	G	9: 83,395,450	F614L	probably damaging	Het
Lyst	T	C	13: 13,637,562	V853A	probably benign	Het
Map2	A	T	1: 66,416,364	T1406S	probably damaging	Het
Med23	A	G	10: 24,895,719	I552V	possibly damaging	Het
Myo1h	A	T	5: 114,334,102	I414L		Het
Myom1	A	G	17: 71,106,204	K1271E	probably damaging	Het
Olfr126	A	T	17: 37,850,784	K64M	probably damaging	Het
Olfr133	T	A	17: 38,148,732	V48E	possibly damaging	Het
Olfr873	T	C	9: 20,300,773	F192S	possibly damaging	Het
Pkd1l3	GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA	GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA	8: 109,624,195		probably benign	Het
Prdm2	A	T	4: 143,133,215	D1168E	possibly damaging	Het
Prr5	T	C	15: 84,699,715	M181T	probably damaging	Het
Ptpdc1	A	G	13: 48,590,692	I151T	probably damaging	Het
Ptpn7	T	C	1: 135,139,266	V287A	possibly damaging	Het
Ptprz1	T	C	6: 23,042,748	V2057A		Het
Rad17	G	T	13: 100,617,819	A631E	probably benign	Het
Sf3a2	ACTCCAGGGGTGCACCCACCAGCTCCAGGGGTGCACCCACCAGCTCCAGGGGTGCACCCACCAGCTCCAGGGGT	ACTCCAGGGGTGCACCCACCAGCTCCAGGGGTGCACCCACCAGCTCCAGGGGT	10: 80,804,437		probably benign	Het
Slc22a2	A	T	17: 12,609,979	D324V	probably benign	Het
Ssfa2	A	G	2: 79,657,340	K589R	probably benign	Het
Strc	C	T	2: 121,374,872		probably null	Het
Taf4b	T	G	18: 14,830,070	D622E	probably benign	Het
Tgfbrap1	A	C	1: 43,075,813	N42K	probably benign	Het
Uvrag	A	G	7: 98,979,736	F375L	probably benign	Het
Vmn2r76	A	G	7: 86,228,791	I466T	probably damaging	Het
Vmn2r8	T	C	5: 108,808,751	K2E	probably damaging	Het
Vps13d	T	C	4: 145,155,202	T1274A		Het
Ylpm1	T	C	12: 85,069,620	V2092A	probably damaging	Het
Zfp638	T	C	6: 83,969,153	S1055P	probably damaging	Het
Zzef1	A	G	11: 72,863,989	T982A	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
R4393:Vwa3b	UTSW	1	37045178	missense	probably damaging	1.00
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
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

Predicted Primers

PCR Primer
(F):5'- TTGATGTTAGATCCCCACCCTG -3'
(R):5'- TAGAGCATCGCATCTGCCAG -3'

Sequencing Primer
(F):5'- GTTAGATCCCCACCCTGTCCTG -3'
(R):5'- CCTGACAGGTATTTGCCCGTG -3'

Posted On

2021-07-15