Mutagenetix > Incidental Mutations

Incidental Mutation 'R9012:Vwa3b'

685668

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 #

R9012 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

37026596-37187613 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 37085310 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Glycine at position 330 (S330G)

Ref Sequence

ENSEMBL: ENSMUSP00000027289 (fasta)

Gene Model

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

AlphaFold

A0A571BE33

Predicted Effect

probably benign
Transcript: ENSMUST00000027289
AA Change: S330G

PolyPhen 2 Score 0.154 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000027289
Gene: ENSMUSG00000050122
AA Change: S330G

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

Meta Mutation Damage Score

0.0846

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.7%

Validation Efficiency

100% (61/61)

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
A930017K11Rik	A	G	17: 25,947,711	L284P	probably benign	Het
Agt	T	C	8: 124,564,215	N118D	probably benign	Het
Apol8	T	C	15: 77,750,124	D84G	probably benign	Het
Arl6ip5	T	A	6: 97,210,877	D19E	probably benign	Het
B3gnt3	G	T	8: 71,693,029	H232N	probably damaging	Het
Btbd10	T	C	7: 113,322,757	K347R	probably damaging	Het
Capn5	C	T	7: 98,164,843		probably benign	Het
Ccdc181	C	T	1: 164,282,493	R390W	probably damaging	Het
Cdc42bpa	T	C	1: 180,031,512	V93A		Het
Clcn1	A	G	6: 42,291,633	I191V	possibly damaging	Het
Coro1c	T	C	5: 113,850,676	D202G	probably damaging	Het
Cul9	A	G	17: 46,543,521	I85T	probably benign	Het
Cyp2c55	C	T	19: 39,042,116	T464I	probably benign	Het
Dlgap1	G	A	17: 70,516,187	E56K	possibly damaging	Het
Dnajc6	T	C	4: 101,612,959	F298L	probably damaging	Het
E130311K13Rik	A	T	3: 63,915,513	W237R	probably damaging	Het
Fes	T	A	7: 80,383,136	D287V	possibly damaging	Het
Fstl5	G	T	3: 76,659,720	W557L	probably damaging	Het
Gad2	A	G	2: 22,690,251	N555D	possibly damaging	Het
Gm10277	C	T	11: 77,786,022	R41K	unknown	Het
Gm11639	G	A	11: 104,820,521		probably null	Het
Gm21834	T	C	17: 57,742,167	E18G	probably null	Het
Hnrnpul2	T	C	19: 8,824,465	F346L	possibly damaging	Het
Hspa4	A	T	11: 53,268,575	V524E	probably benign	Het
Ikbke	T	C	1: 131,273,453	I207V	probably damaging	Het
Iqsec3	T	C	6: 121,413,037	I492V	unknown	Het
Itsn1	C	A	16: 91,848,961	F846L	unknown	Het
Ldhal6b	A	T	17: 5,417,667	Y331N	probably damaging	Het
Lrrc37a	T	G	11: 103,499,152	T1816P	probably benign	Het
Lzts1	C	T	8: 69,140,898	R19H	probably damaging	Het
Maats1	T	C	16: 38,301,973	E712G	probably damaging	Het
Mast4	T	A	13: 102,798,098	T338S	probably benign	Het
Mst1r	A	G	9: 107,914,761	E832G	probably benign	Het
Myom1	T	G	17: 71,100,108	D1173E	probably benign	Het
Nlrp9c	T	A	7: 26,375,308	I821F	probably benign	Het
Obscn	T	C	11: 59,130,597	K806E	probably benign	Het
Olfr1225	A	G	2: 89,170,585	I209T	possibly damaging	Het
Olfr695	T	C	7: 106,713,908	M258V	probably benign	Het
Olfr811	A	C	10: 129,801,602	S308A	probably benign	Het
Palld	T	A	8: 61,720,663	S321C	possibly damaging	Het
Pank4	C	A	4: 154,978,390		probably benign	Het
Psg26	T	A	7: 18,482,671	H81L	probably benign	Het
Ptprq	C	T	10: 107,653,550	E905K	probably benign	Het
Siglecg	T	A	7: 43,411,099	L301Q	probably damaging	Het
Slc25a15	A	G	8: 22,377,862	W301R	probably benign	Het
Slco1b2	T	A	6: 141,656,828	V169D	probably damaging	Het
Sned1	T	C	1: 93,284,598	V1174A	probably damaging	Het
Sorl1	A	G	9: 42,071,195	V363A	probably damaging	Het
Sppl3	C	A	5: 115,088,928	P239T	probably benign	Het
Stox1	A	T	10: 62,664,832	S650T	probably benign	Het
Tbc1d9b	A	G	11: 50,149,861	T402A	probably benign	Het
Tmem104	A	T	11: 115,201,318	E84D	probably benign	Het
Tox4	T	C	14: 52,285,751	V56A	probably benign	Het
Trav7-6	A	G	14: 53,717,147	K65E	probably benign	Het
Treml2	A	G	17: 48,308,062	T192A	possibly damaging	Het
Vmn2r110	T	C	17: 20,583,365	D316G	probably damaging	Het
Vmn2r5	A	T	3: 64,504,494	W218R	probably damaging	Het
Wdr81	A	G	11: 75,449,145	V220A	possibly damaging	Het
Zbbx	A	G	3: 75,061,653	S504P	possibly damaging	Het
Zfp68	A	T	5: 138,607,021	C347S	probably damaging	Het
Zfp936	T	A	7: 43,189,992	C294*	probably null	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
R8874:Vwa3b	UTSW	1	37035758	missense	possibly damaging	0.73
R9011:Vwa3b	UTSW	1	37115686	missense	probably damaging	1.00
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'- GAGGAATCTTAGTCCTGATTCTCAG -3'
(R):5'- GAGCGAAGGAACTCTGCTAG -3'

Sequencing Primer
(F):5'- GATATTCAGAGCTGCTCTCGACAG -3'
(R):5'- GCGAAGGAACTCTGCTAGAAATACTC -3'

Posted On

2021-10-11