Mutagenetix > Incidental Mutation

Incidental Mutation 'R2441:Vwa3b'

476267

Institutional Source

Beutler Lab

Gene Symbol

Vwa3b

Ensembl Gene

ENSMUSG00000050122

Gene Name

von Willebrand factor A domain containing 3B

Synonyms

A230074B11Rik, 4921511C04Rik

MMRRC Submission

040399-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.055) question?

Stock #

R2441 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

37068372-37226689 bp(+) (GRCm39)

Type of Mutation

unclassified

DNA Base Change (assembly)

T to C at 37182150 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Gene Model

predicted gene model for transcript(s): [ENSMUST00000027289]

AlphaFold

A0A571BE33

Predicted Effect

probably benign
Transcript: ENSMUST00000027289

SMART Domains

Protein: ENSMUSP00000027289
Gene: ENSMUSG00000050122

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 benign
Transcript: ENSMUST00000195450

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.1%
20x: 94.7%

Validation Efficiency

Allele List at MGI

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

Other mutations in this stock

Total: 28 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3425401B19Rik	T	C	14: 32,385,449 (GRCm39)	N172S	possibly damaging	Het
AY358078	A	G	14: 52,037,546 (GRCm39)	H15R	probably benign	Het
Boc	A	G	16: 44,308,986 (GRCm39)	V842A	probably damaging	Het
Chuk	T	A	19: 44,085,360 (GRCm39)	N262I	probably damaging	Het
Erich6	A	T	3: 58,526,232 (GRCm39)	L590Q	probably damaging	Het
Fsip2	A	T	2: 82,815,685 (GRCm39)	H3806L	possibly damaging	Het
Gucy1b1	T	C	3: 81,952,761 (GRCm39)	D224G	probably damaging	Het
Hgf	A	T	5: 16,809,788 (GRCm39)	H426L	probably damaging	Het
Nrxn2	G	T	19: 6,478,331 (GRCm39)	G85W	probably damaging	Het
Ntrk3	A	T	7: 77,952,410 (GRCm39)	N602K	probably damaging	Het
Or13p10	G	A	4: 118,523,332 (GRCm39)	G206D	possibly damaging	Het
Or5p51	T	C	7: 107,444,185 (GRCm39)	T252A	probably benign	Het
P3h4	G	A	11: 100,304,594 (GRCm39)	R216W	probably damaging	Het
Pced1b	T	A	15: 97,282,166 (GRCm39)	D68E	possibly damaging	Het
Pzp	A	T	6: 128,466,731 (GRCm39)	L1161*	probably null	Het
Rprd1a	A	T	18: 24,640,257 (GRCm39)	L173*	probably null	Het
Slfn3	A	G	11: 83,103,509 (GRCm39)	I127V	probably benign	Het
Sp100	A	G	1: 85,631,210 (GRCm39)		probably benign	Het
Tbx15	T	G	3: 99,259,827 (GRCm39)	M566R	probably damaging	Het
Tesmin	G	A	19: 3,452,577 (GRCm39)		probably null	Het
Tmem132a	A	G	19: 10,837,501 (GRCm39)	V603A	probably damaging	Het
Tob2	G	T	15: 81,735,923 (GRCm39)	Y15*	probably null	Het
Trim23	A	T	13: 104,328,583 (GRCm39)	Q307L	probably damaging	Het
Trpc4	A	T	3: 54,129,704 (GRCm39)	I157L	probably damaging	Het
Tsen34	A	T	7: 3,697,994 (GRCm39)	K87N	possibly damaging	Het
Ubr5	A	G	15: 37,989,589 (GRCm39)	S2076P	probably damaging	Het
Vmn2r59	C	T	7: 41,695,570 (GRCm39)	V281I	probably benign	Het
Zfp384	C	T	6: 125,013,612 (GRCm39)	P544L	probably benign	Het

Other mutations in Vwa3b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01404:Vwa3b	APN	1	37,193,117 (GRCm39)	missense	probably benign	0.28
IGL02236:Vwa3b	APN	1	37,193,132 (GRCm39)	splice site	probably benign
IGL02653:Vwa3b	APN	1	37,214,646 (GRCm39)	utr 3 prime	probably benign
IGL02823:Vwa3b	APN	1	37,225,985 (GRCm39)	utr 3 prime	probably benign
IGL03030:Vwa3b	APN	1	37,084,049 (GRCm39)	missense	probably damaging	1.00
P0014:Vwa3b	UTSW	1	37,212,995 (GRCm39)	utr 3 prime	probably benign
R0035:Vwa3b	UTSW	1	37,204,770 (GRCm39)	missense	possibly damaging	0.69
R0102:Vwa3b	UTSW	1	37,174,595 (GRCm39)	missense	probably damaging	1.00
R0556:Vwa3b	UTSW	1	37,203,566 (GRCm39)	splice site	probably benign
R1061:Vwa3b	UTSW	1	37,196,511 (GRCm39)	missense	probably damaging	1.00
R1386:Vwa3b	UTSW	1	37,090,962 (GRCm39)	critical splice donor site	probably null
R3117:Vwa3b	UTSW	1	37,148,158 (GRCm39)	missense	possibly damaging	0.95
R3119:Vwa3b	UTSW	1	37,148,158 (GRCm39)	missense	possibly damaging	0.95
R4081:Vwa3b	UTSW	1	37,074,905 (GRCm39)	missense	probably damaging	0.99
R4393:Vwa3b	UTSW	1	37,084,259 (GRCm39)	missense	probably damaging	1.00
R4897:Vwa3b	UTSW	1	37,153,684 (GRCm39)	splice site	probably benign
R4950:Vwa3b	UTSW	1	37,124,413 (GRCm39)	missense	probably benign	0.00
R4978:Vwa3b	UTSW	1	37,154,752 (GRCm39)	missense	probably damaging	0.99
R5141:Vwa3b	UTSW	1	37,226,102 (GRCm39)	utr 3 prime	probably benign
R5286:Vwa3b	UTSW	1	37,084,120 (GRCm39)	missense	probably damaging	1.00
R5356:Vwa3b	UTSW	1	37,153,664 (GRCm39)	missense	probably damaging	0.99
R5426:Vwa3b	UTSW	1	37,154,752 (GRCm39)	missense	probably damaging	0.99
R5480:Vwa3b	UTSW	1	37,139,787 (GRCm39)	nonsense	probably null
R5727:Vwa3b	UTSW	1	37,174,600 (GRCm39)	missense	probably benign	0.10
R5876:Vwa3b	UTSW	1	37,115,520 (GRCm39)	missense	probably damaging	0.97
R6191:Vwa3b	UTSW	1	37,153,612 (GRCm39)	missense	possibly damaging	0.92
R6219:Vwa3b	UTSW	1	37,139,779 (GRCm39)	missense	possibly damaging	0.92
R6250:Vwa3b	UTSW	1	37,090,966 (GRCm39)	splice site	probably null
R6281:Vwa3b	UTSW	1	37,163,063 (GRCm39)	missense	probably damaging	1.00
R6419:Vwa3b	UTSW	1	37,196,457 (GRCm39)	missense	probably benign	0.01
R6467:Vwa3b	UTSW	1	37,124,367 (GRCm39)	missense	probably benign	0.01
R6512:Vwa3b	UTSW	1	37,102,723 (GRCm39)	intron	probably benign
R6541:Vwa3b	UTSW	1	37,090,842 (GRCm39)	missense	probably damaging	1.00
R6724:Vwa3b	UTSW	1	37,084,112 (GRCm39)	missense	probably damaging	1.00
R6728:Vwa3b	UTSW	1	37,196,453 (GRCm39)	missense	probably damaging	1.00
R7046:Vwa3b	UTSW	1	37,212,959 (GRCm39)	missense	probably benign
R7117:Vwa3b	UTSW	1	37,174,634 (GRCm39)	missense
R7304:Vwa3b	UTSW	1	37,203,586 (GRCm39)	missense	probably damaging	1.00
R7402:Vwa3b	UTSW	1	37,153,678 (GRCm39)	nonsense	probably null
R7762:Vwa3b	UTSW	1	37,163,126 (GRCm39)	missense	probably damaging	1.00
R7911:Vwa3b	UTSW	1	37,193,107 (GRCm39)	missense	probably damaging	1.00
R8213:Vwa3b	UTSW	1	37,168,020 (GRCm39)	missense	probably benign	0.07
R8402:Vwa3b	UTSW	1	37,204,879 (GRCm39)	missense	probably damaging	1.00
R8697:Vwa3b	UTSW	1	37,115,461 (GRCm39)	missense	probably benign	0.09
R8758:Vwa3b	UTSW	1	37,176,873 (GRCm39)	missense
R8874:Vwa3b	UTSW	1	37,074,839 (GRCm39)	missense	possibly damaging	0.73
R9011:Vwa3b	UTSW	1	37,154,767 (GRCm39)	missense	probably damaging	1.00
R9012:Vwa3b	UTSW	1	37,124,391 (GRCm39)	missense	probably benign	0.15
R9015:Vwa3b	UTSW	1	37,203,597 (GRCm39)	missense	possibly damaging	0.71
R9102:Vwa3b	UTSW	1	37,174,593 (GRCm39)	start codon destroyed	probably null
R9263:Vwa3b	UTSW	1	37,099,493 (GRCm39)	missense	probably benign	0.43
R9277:Vwa3b	UTSW	1	37,196,534 (GRCm39)	critical splice donor site	probably null
R9294:Vwa3b	UTSW	1	37,074,882 (GRCm39)	missense	probably damaging	0.99
R9341:Vwa3b	UTSW	1	37,153,615 (GRCm39)	missense	probably damaging	1.00
R9343:Vwa3b	UTSW	1	37,153,615 (GRCm39)	missense	probably damaging	1.00
R9502:Vwa3b	UTSW	1	37,099,520 (GRCm39)	missense	probably damaging	0.99
R9758:Vwa3b	UTSW	1	37,081,438 (GRCm39)	missense	probably benign	0.00

Predicted Primers

Posted On

2017-05-11