Mutagenetix > Incidental Mutations

Incidental Mutation 'R9102:Vwa3b'

691724

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 #

R9102 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

37026596-37187613 bp(+) (GRCm38)

Type of Mutation

start codon destroyed

DNA Base Change (assembly)

G to A at 37135512 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Isoleucine at position 1 (M1I)

Gene Model

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

AlphaFold

A0A571BE33

Predicted Effect

probably benign
Transcript: ENSMUST00000027289
AA Change: M669I

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000027289
Gene: ENSMUSG00000050122
AA Change: M669I

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 null
Transcript: ENSMUST00000195450
AA Change: M1I

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

Allele List at MGI

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

Other mutations in this stock

Total: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb9	T	C	5: 124,090,113	T22A	possibly damaging	Het
Adam33	T	C	2: 131,055,817	Q227R	probably benign	Het
Adgrb2	G	A	4: 130,019,009	G1276D	probably benign	Het
Adra1b	A	G	11: 43,776,229	S394P	possibly damaging	Het
Arap2	T	A	5: 62,748,998	H226L	probably benign	Het
Bckdk	A	G	7: 127,907,486	D297G	probably null	Het
Brwd1	T	C	16: 96,068,525	T101A	probably benign	Het
Ciita	A	G	16: 10,506,701	R166G	probably benign	Het
Cnksr1	A	G	4: 134,229,012	F587S	probably damaging	Het
Col4a1	A	T	8: 11,203,007	C1548S	possibly damaging	Het
Cxcl15	G	T	5: 90,801,295	M106I		Het
Dennd6a	T	C	14: 26,629,534	I598T	probably damaging	Het
Dlg5	G	A	14: 24,149,499	P1446S	probably damaging	Het
Dnah6	A	T	6: 73,067,486	I3214N	probably benign	Het
Dnmt3b	T	C	2: 153,676,783	V622A	probably damaging	Het
Fam170b	T	A	14: 32,835,447	S80T	probably damaging	Het
Fbxl13	G	T	5: 21,632,803	H45Q	probably benign	Het
Fbxo39	T	C	11: 72,317,490	F223L	possibly damaging	Het
Fndc3b	C	A	3: 27,468,865		probably null	Het
Gbp3	G	C	3: 142,567,825	V378L	probably benign	Het
Gc	C	T	5: 89,443,585	S98N	probably benign	Het
Gck	A	G	11: 5,906,516	Y214H	probably damaging	Het
Gpr158	A	T	2: 21,825,267	S708C	probably damaging	Het
Hmcn1	A	T	1: 150,697,580	M2106K	probably benign	Het
Hoxd11	T	A	2: 74,682,930	Y180N	possibly damaging	Het
Hydin	A	G	8: 110,508,914	I1844V	probably benign	Het
Knl1	T	C	2: 119,087,492	I1777T	probably benign	Het
Krt33b	A	C	11: 100,025,020	L300R	probably damaging	Het
Madd	C	T	2: 91,158,059	A1208T	probably benign	Het
Meis2	T	A	2: 115,864,279	N461I	probably benign	Het
Mgat1	T	A	11: 49,261,338	V216E	probably damaging	Het
Nox4	G	A	7: 87,376,240	R525Q	probably benign	Het
Npc1l1	C	T	11: 6,214,684	V1122M	possibly damaging	Het
Nrsn1	A	G	13: 25,253,534	M137T	probably benign	Het
Nrxn3	T	C	12: 90,332,150	S1015P	probably benign	Het
Nudt22	T	A	19: 6,994,751	I166F	probably benign	Het
Olfr1106	C	T	2: 87,048,827	M136I	possibly damaging	Het
Olfr149	A	C	9: 39,702,688	V27G	probably benign	Het
Olfr424	A	T	1: 174,136,756	N4I		Het
Olfr430	T	A	1: 174,069,610	F104Y	probably damaging	Het
Olfr878	T	A	9: 37,918,696	I13N	probably damaging	Het
Olfr949-ps1	C	T	9: 39,365,092	P178S	unknown	Het
Pcdha4	T	A	18: 36,954,577	N604K	probably damaging	Het
Peg10	ACATCAGGATCC	ACATCAGGATCCCCATCAGGATCC	6: 4,756,454		probably benign	Het
Plxnc1	C	T	10: 94,827,245	V1181M	probably damaging	Het
Pms1	G	C	1: 53,267,862	H128Q	probably benign	Het
Prkar2b	G	A	12: 31,963,026	H364Y	probably benign	Het
Pus7	A	T	5: 23,752,382	I357K	possibly damaging	Het
Rsf1	GCGGC	GCGGCGGCGCCGGC	7: 97,579,931		probably benign	Het
Siglec1	T	C	2: 131,073,469	I1401V	probably benign	Het
Slc6a6	G	T	6: 91,754,959	V590L	probably benign	Het
Slc9b1	C	T	3: 135,394,964	P490L	probably damaging	Het
Sprn	T	C	7: 140,153,365	D98G	possibly damaging	Het
Srrm4	T	C	5: 116,482,504	D55G	unknown	Het
Sugct	A	G	13: 17,323,248	V280A	probably benign	Het
Tbx6	A	G	7: 126,781,842	E83G	possibly damaging	Het
Tmem120a	T	C	5: 135,736,601	T209A	probably benign	Het
Top3a	T	C	11: 60,756,329	R255G	probably damaging	Het
Trav6-1	T	A	14: 52,638,551	F13I	probably benign	Het
Tsnaxip1	A	G	8: 105,841,990	E410G	probably benign	Het
Ubr5	A	G	15: 38,018,352	V842A		Het
Ubtf	A	G	11: 102,310,189		probably null	Het
Zfp518b	T	C	5: 38,673,838	T275A	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
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
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'- ACTATAAAGCTGGTTGGACATGG -3'
(R):5'- CTCACTAGATCGCCTAAGGC -3'

Sequencing Primer
(F):5'- CATTACAGATGGTTGTGAGCCACC -3'
(R):5'- GCCTAAGGCTCTTCAGAAAATG -3'

Posted On

2021-12-30