Mutagenetix > Incidental Mutation

Incidental Mutation 'R5426:Vwa3b'

426851

Institutional Source

Beutler Lab

Gene Symbol

Vwa3b

Ensembl Gene

ENSMUSG00000050122

Gene Name

von Willebrand factor A domain containing 3B

Synonyms

4921511C04Rik, A230074B11Rik

MMRRC Submission

042992-MU

Accession Numbers

NCBI RefSeq: XM_003084438.1; MGI:1918103

Essential gene?

Probably non essential (E-score: 0.058) question?

Stock #

R5426 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

37026596-37187613 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 37115671 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 512 (Y512C)

Ref Sequence

ENSEMBL: ENSMUSP00000027289 (fasta)

Gene Model

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

AlphaFold

A0A571BE33

Predicted Effect

probably damaging
Transcript: ENSMUST00000027289
AA Change: Y512C

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000027289
Gene: ENSMUSG00000050122
AA Change: Y512C

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

noncoding transcript
Transcript: ENSMUST00000194048

Meta Mutation Damage Score

0.2235

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.0%
20x: 94.6%

Validation Efficiency

97% (85/88)

Allele List at MGI

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

Other mutations in this stock

Total: 80 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2010315B03Rik	T	A	9: 124,294,003 (GRCm38)	H122L	probably damaging	Het
9330182O14Rik	G	A	15: 40,148,537 (GRCm38)	D91N	unknown	Het
9330182O14Rik	G	A	15: 40,148,536 (GRCm38)	M90I	unknown	Het
Abca13	T	A	11: 9,290,722 (GRCm38)	S862T	probably damaging	Het
Acyp2	C	T	11: 30,506,354 (GRCm38)	E98K	possibly damaging	Het
Adgb	C	A	10: 10,350,260 (GRCm38)	A1405S	probably benign	Het
Adpgk	T	A	9: 59,297,549 (GRCm38)	V86E	probably damaging	Het
Agfg2	G	C	5: 137,667,758 (GRCm38)	P80A	probably damaging	Het
Akap11	G	A	14: 78,498,864 (GRCm38)	Q1829*	probably null	Het
Aldh1l1	G	A	6: 90,559,299 (GRCm38)	R62Q	probably benign	Het
Als2cr12	T	A	1: 58,666,886 (GRCm38)	K275*	probably null	Het
Amd1	G	T	10: 40,290,187 (GRCm38)	D265E	probably damaging	Het
Aox4	A	T	1: 58,220,094 (GRCm38)	Q106L	probably damaging	Het
Arap2	A	T	5: 62,642,816 (GRCm38)	N1289K	probably benign	Het
Arhgef12	T	C	9: 42,986,584 (GRCm38)	S874G	probably damaging	Het
BC067074	G	A	13: 113,369,053 (GRCm38)	V2239I	probably benign	Het
C87499	T	A	4: 88,629,410 (GRCm38)		probably benign	Het
Ccdc166	T	C	15: 75,982,096 (GRCm38)	Q45R	possibly damaging	Het
Cdc45	C	T	16: 18,795,897 (GRCm38)	R205H	probably damaging	Het
Cdk14	A	G	5: 4,888,975 (GRCm38)	S388P	possibly damaging	Het
Chgb	A	T	2: 132,793,533 (GRCm38)	Q465L	possibly damaging	Het
Commd9	T	A	2: 101,898,875 (GRCm38)	W109R	probably damaging	Het
Cyp2b9	T	C	7: 26,187,655 (GRCm38)	V163A	probably benign	Het
Dcpp2	T	A	17: 23,899,313 (GRCm38)	H27Q	possibly damaging	Het
Ddn	T	A	15: 98,806,466 (GRCm38)	E315V	possibly damaging	Het
Defb29	C	A	2: 152,538,948 (GRCm38)	C47F	probably damaging	Het
Dnah7b	T	C	1: 46,242,206 (GRCm38)	M2809T	possibly damaging	Het
Dock4	A	T	12: 40,745,745 (GRCm38)	I854F	probably damaging	Het
Dsg4	T	C	18: 20,458,484 (GRCm38)	Y427H	probably damaging	Het
E130114P18Rik	C	T	4: 97,690,670 (GRCm38)	A23T	unknown	Het
Gemin5	A	G	11: 58,125,287 (GRCm38)	S1297P	probably benign	Het
Gm10309	A	C	17: 86,498,733 (GRCm38)		probably benign	Het
Gm884	A	T	11: 103,620,760 (GRCm38)	H127Q	unknown	Het
Gpatch11	T	A	17: 78,841,234 (GRCm38)	S155R	possibly damaging	Het
Grin2b	C	A	6: 135,732,368 (GRCm38)	Q1393H	probably damaging	Het
Heatr5b	C	T	17: 78,773,713 (GRCm38)	C1370Y	probably damaging	Het
Hmcn2	C	T	2: 31,336,544 (GRCm38)	T177I	possibly damaging	Het
Ildr1	A	T	16: 36,709,619 (GRCm38)	I123F	probably damaging	Het
Kalrn	A	T	16: 34,262,653 (GRCm38)	V644D	probably damaging	Het
Kifap3	A	G	1: 163,779,871 (GRCm38)	M1V	probably null	Het
Klhl11	A	G	11: 100,464,116 (GRCm38)	L293P	probably damaging	Het
Klrc3	G	A	6: 129,641,550 (GRCm38)	S98L	probably benign	Het
Med12l	G	A	3: 59,248,722 (GRCm38)	M1220I	probably damaging	Het
Ms4a7	C	T	19: 11,325,802 (GRCm38)		probably null	Het
Mybpc2	A	G	7: 44,509,829 (GRCm38)	V599A	probably benign	Het
Naalad2	T	C	9: 18,347,519 (GRCm38)	N487D	probably benign	Het
Nat8f7	T	G	6: 85,707,823 (GRCm38)	S12R	probably benign	Het
Nefm	T	A	14: 68,120,066 (GRCm38)		probably benign	Het
Nlrp5	T	C	7: 23,418,201 (GRCm38)	V450A	probably damaging	Het
Nps	G	A	7: 135,268,647 (GRCm38)		probably null	Het
Olfr1247	T	C	2: 89,609,739 (GRCm38)	Y121C	probably damaging	Het
Olfr142	T	A	2: 90,252,611 (GRCm38)	K126*	probably null	Het
Olfr159	A	G	4: 43,770,168 (GRCm38)	I281T	probably benign	Het
Olfr192	G	T	16: 59,098,302 (GRCm38)	P230Q	possibly damaging	Het
Olfr492	T	C	7: 108,322,810 (GRCm38)	N289D	probably damaging	Het
Olfr513	T	C	7: 108,755,717 (GRCm38)	L287P	possibly damaging	Het
Olfr698	C	A	7: 106,752,566 (GRCm38)	S274I	probably benign	Het
Oxct2a	C	A	4: 123,322,713 (GRCm38)	G292W	possibly damaging	Het
Prr27	T	C	5: 87,850,885 (GRCm38)		probably benign	Het
Ptx3	T	C	3: 66,220,722 (GRCm38)	M68T	probably damaging	Het
Rufy1	A	G	11: 50,421,734 (GRCm38)	L131S	probably damaging	Het
Sept7	T	A	9: 25,286,690 (GRCm38)	I100N	possibly damaging	Het
Sgms2	T	C	3: 131,341,797 (GRCm38)	I143V	probably benign	Het
Slc25a34	A	G	4: 141,623,566 (GRCm38)	V44A	probably damaging	Het
Slc28a3	T	A	13: 58,563,154 (GRCm38)	D518V	probably damaging	Het
Slc6a7	C	T	18: 61,003,236 (GRCm38)		probably null	Het
Slco4a1	C	A	2: 180,471,235 (GRCm38)	A420D	possibly damaging	Het
Smap1	T	C	1: 23,849,390 (GRCm38)	T180A	probably benign	Het
Specc1l	T	C	10: 75,267,550 (GRCm38)	S920P	probably benign	Het
Tgtp2	A	G	11: 49,059,256 (GRCm38)	M163T	probably benign	Het
Tiam1	G	T	16: 89,865,392 (GRCm38)	Q613K	possibly damaging	Het
Vsig10l	T	A	7: 43,464,823 (GRCm38)	S190T	probably damaging	Het
Wdfy3	T	A	5: 101,919,446 (GRCm38)	N1207Y	probably damaging	Het
Wdr17	C	T	8: 54,681,399 (GRCm38)	G349R	probably damaging	Het
Wdr70	A	G	15: 7,922,105 (GRCm38)	L417S	possibly damaging	Het
Wdr81	A	C	11: 75,450,896 (GRCm38)	S1182A	possibly damaging	Het
Zfp458	A	T	13: 67,257,192 (GRCm38)	C391*	probably null	Het
Zfp638	A	G	6: 83,976,414 (GRCm38)	E1167G	probably damaging	Het
Zfp763	T	A	17: 33,019,595 (GRCm38)	D192V	probably benign	Het
Zfp853	T	G	5: 143,288,869 (GRCm38)	Q332P	unknown	Het

Other mutations in Vwa3b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01404:Vwa3b	APN	1	37,154,036 (GRCm38)	missense	probably benign	0.28
IGL02236:Vwa3b	APN	1	37,154,051 (GRCm38)	splice site	probably benign
IGL02653:Vwa3b	APN	1	37,175,565 (GRCm38)	utr 3 prime	probably benign
IGL02823:Vwa3b	APN	1	37,186,904 (GRCm38)	utr 3 prime	probably benign
IGL03030:Vwa3b	APN	1	37,044,968 (GRCm38)	missense	probably damaging	1.00
P0014:Vwa3b	UTSW	1	37,173,914 (GRCm38)	utr 3 prime	probably benign
R0035:Vwa3b	UTSW	1	37,165,689 (GRCm38)	missense	possibly damaging	0.69
R0102:Vwa3b	UTSW	1	37,135,514 (GRCm38)	missense	probably damaging	1.00
R0556:Vwa3b	UTSW	1	37,164,485 (GRCm38)	splice site	probably benign
R1061:Vwa3b	UTSW	1	37,157,430 (GRCm38)	missense	probably damaging	1.00
R1386:Vwa3b	UTSW	1	37,051,881 (GRCm38)	critical splice donor site	probably null
R2441:Vwa3b	UTSW	1	37,143,069 (GRCm38)	unclassified	probably benign
R3117:Vwa3b	UTSW	1	37,109,077 (GRCm38)	missense	possibly damaging	0.95
R3119:Vwa3b	UTSW	1	37,109,077 (GRCm38)	missense	possibly damaging	0.95
R4081:Vwa3b	UTSW	1	37,035,824 (GRCm38)	missense	probably damaging	0.99
R4393:Vwa3b	UTSW	1	37,045,178 (GRCm38)	missense	probably damaging	1.00
R4897:Vwa3b	UTSW	1	37,114,603 (GRCm38)	splice site	probably benign
R4950:Vwa3b	UTSW	1	37,085,332 (GRCm38)	missense	probably benign	0.00
R4978:Vwa3b	UTSW	1	37,115,671 (GRCm38)	missense	probably damaging	0.99
R5141:Vwa3b	UTSW	1	37,187,021 (GRCm38)	utr 3 prime	probably benign
R5286:Vwa3b	UTSW	1	37,045,039 (GRCm38)	missense	probably damaging	1.00
R5356:Vwa3b	UTSW	1	37,114,583 (GRCm38)	missense	probably damaging	0.99
R5480:Vwa3b	UTSW	1	37,100,706 (GRCm38)	nonsense	probably null
R5727:Vwa3b	UTSW	1	37,135,519 (GRCm38)	missense	probably benign	0.10
R5876:Vwa3b	UTSW	1	37,076,439 (GRCm38)	missense	probably damaging	0.97
R6191:Vwa3b	UTSW	1	37,114,531 (GRCm38)	missense	possibly damaging	0.92
R6219:Vwa3b	UTSW	1	37,100,698 (GRCm38)	missense	possibly damaging	0.92
R6250:Vwa3b	UTSW	1	37,051,885 (GRCm38)	splice site	probably null
R6281:Vwa3b	UTSW	1	37,123,982 (GRCm38)	missense	probably damaging	1.00
R6419:Vwa3b	UTSW	1	37,157,376 (GRCm38)	missense	probably benign	0.01
R6467:Vwa3b	UTSW	1	37,085,286 (GRCm38)	missense	probably benign	0.01
R6512:Vwa3b	UTSW	1	37,063,642 (GRCm38)	intron	probably benign
R6541:Vwa3b	UTSW	1	37,051,761 (GRCm38)	missense	probably damaging	1.00
R6724:Vwa3b	UTSW	1	37,045,031 (GRCm38)	missense	probably damaging	1.00
R6728:Vwa3b	UTSW	1	37,157,372 (GRCm38)	missense	probably damaging	1.00
R7046:Vwa3b	UTSW	1	37,173,878 (GRCm38)	missense	probably benign
R7117:Vwa3b	UTSW	1	37,135,553 (GRCm38)	missense
R7304:Vwa3b	UTSW	1	37,164,505 (GRCm38)	missense	probably damaging	1.00
R7402:Vwa3b	UTSW	1	37,114,597 (GRCm38)	nonsense	probably null
R7762:Vwa3b	UTSW	1	37,124,045 (GRCm38)	missense	probably damaging	1.00
R7911:Vwa3b	UTSW	1	37,154,026 (GRCm38)	missense	probably damaging	1.00
R8213:Vwa3b	UTSW	1	37,128,939 (GRCm38)	missense	probably benign	0.07
R8402:Vwa3b	UTSW	1	37,165,798 (GRCm38)	missense	probably damaging	1.00
R8697:Vwa3b	UTSW	1	37,076,380 (GRCm38)	missense	probably benign	0.09
R8758:Vwa3b	UTSW	1	37,137,792 (GRCm38)	missense
R8874:Vwa3b	UTSW	1	37,035,758 (GRCm38)	missense	possibly damaging	0.73
R9011:Vwa3b	UTSW	1	37,115,686 (GRCm38)	missense	probably damaging	1.00
R9012:Vwa3b	UTSW	1	37,085,310 (GRCm38)	missense	probably benign	0.15
R9015:Vwa3b	UTSW	1	37,164,516 (GRCm38)	missense	possibly damaging	0.71
R9102:Vwa3b	UTSW	1	37,135,512 (GRCm38)	start codon destroyed	probably null
R9263:Vwa3b	UTSW	1	37,060,412 (GRCm38)	missense	probably benign	0.43
R9277:Vwa3b	UTSW	1	37,157,453 (GRCm38)	critical splice donor site	probably null
R9294:Vwa3b	UTSW	1	37,035,801 (GRCm38)	missense	probably damaging	0.99
R9341:Vwa3b	UTSW	1	37,114,534 (GRCm38)	missense	probably damaging	1.00
R9343:Vwa3b	UTSW	1	37,114,534 (GRCm38)	missense	probably damaging	1.00
R9502:Vwa3b	UTSW	1	37,060,439 (GRCm38)	missense	probably damaging	0.99
R9758:Vwa3b	UTSW	1	37,042,357 (GRCm38)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- TCAGTAGAGGCCAAACATCCAG -3'
(R):5'- GTTCATGTATAGACACCGCCTG -3'

Sequencing Primer
(F):5'- GCCAAACATCCAGACTATATCATTTG -3'
(R):5'- GGTGCCCAAGCCATTTCTCAG -3'

Posted On

2016-09-01