Mutagenetix > Incidental Mutations

Incidental Mutation 'R9011:Vwa3b'

685609

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 #

R9011 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

37026596-37187613 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 37115686 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 517 (N517S)

Ref Sequence

ENSEMBL: ENSMUSP00000027289 (fasta)

Gene Model

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

AlphaFold

A0A571BE33

Predicted Effect

probably damaging
Transcript: ENSMUST00000027289
AA Change: N517S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000027289
Gene: ENSMUSG00000050122
AA Change: N517S

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

Allele List at MGI

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

Other mutations in this stock

Total: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700011I03Rik	A	T	18: 57,667,304	I176F	possibly damaging	Het
Actr10	A	G	12: 70,952,960	T177A	probably benign	Het
Adgrb2	G	A	4: 130,022,318	D1468N	probably damaging	Het
AF067061	A	G	13: 120,264,210	T137A	probably damaging	Het
Aldh16a1	A	G	7: 45,145,527	F506S	probably damaging	Het
Ankfn1	A	T	11: 89,526,618	M56K	probably benign	Het
Atxn7l2	T	C	3: 108,207,440	S97G	probably benign	Het
Cacna1g	C	T	11: 94,415,837	G1905D	probably benign	Het
Ccne1	A	T	7: 38,106,660	M13K	probably benign	Het
Chil3	A	T	3: 106,149,715	Y304*	probably null	Het
Chst15	A	G	7: 132,270,517	F12L	probably benign	Het
Cldn23	T	A	8: 35,825,672	I221F	probably damaging	Het
Col16a1	T	C	4: 130,052,859	F92L	unknown	Het
Cyp2w1	T	A	5: 139,354,559	V199E	possibly damaging	Het
Dmxl1	A	G	18: 49,864,173	Y512C	probably damaging	Het
Dopey1	A	T	9: 86,515,343	H900L	probably damaging	Het
Ehd1	T	C	19: 6,298,078	L362P	probably benign	Het
Eif3l	T	G	15: 79,089,525	M380R	possibly damaging	Het
Fam71a	A	C	1: 191,163,061	S462A	probably benign	Het
Fer1l5	A	T	1: 36,402,520	K605N	probably damaging	Het
Fgfbp1	T	G	5: 43,979,285	N222H	probably benign	Het
Flcn	A	G	11: 59,799,407	L273P	possibly damaging	Het
Fzd10	C	G	5: 128,602,305	P363R	probably damaging	Het
Gfi1	A	G	5: 107,725,559		probably null	Het
Ift57	A	G	16: 49,759,414	Q316R	probably benign	Het
Itga11	T	C	9: 62,755,627	F542L	probably benign	Het
Kif28	G	C	1: 179,702,419	L726V	possibly damaging	Het
Krt90	A	G	15: 101,562,800	I9T	probably benign	Het
Lefty1	A	T	1: 180,937,676	M270L	probably benign	Het
Mipol1	A	T	12: 57,457,079	E344D	probably benign	Het
Mon2	A	T	10: 123,026,308	M737K	possibly damaging	Het
Mrpl14	A	G	17: 45,698,404	N143S	probably benign	Het
Nelfcd	T	A	2: 174,426,924	H589Q	probably benign	Het
Npepps	T	C	11: 97,240,931	M366V	probably damaging	Het
Olfr1448	A	T	19: 12,920,115	S65T	probably damaging	Het
Platr25	T	A	13: 62,700,466	H194L	probably damaging	Het
Plekhg4	T	C	8: 105,375,652	I127T	probably benign	Het
Rarb	A	G	14: 16,435,140	V302A	probably damaging	Het
Rc3h1	A	C	1: 160,965,103	T1037P	probably damaging	Het
Rnaset2a	G	A	17: 8,137,928	P102S	probably damaging	Het
Scn10a	A	C	9: 119,630,094	S1166R	probably damaging	Het
Scn3a	A	G	2: 65,521,826	M380T	possibly damaging	Het
Serpinb13	A	G	1: 106,995,789	I75V	probably benign	Het
Slc35f5	G	A	1: 125,562,313	A27T	probably benign	Het
Slc45a3	G	A	1: 131,977,976	V246I	probably benign	Het
Slc7a14	G	A	3: 31,224,196	T420I	probably damaging	Het
Slc9a9	A	G	9: 94,936,440	T296A	probably benign	Het
Smyd2	G	A	1: 189,896,636	H157Y	probably damaging	Het
Spata32	T	A	11: 103,209,851	H30L	probably benign	Het
Srarp	T	C	4: 141,433,033	E163G	possibly damaging	Het
Tmed8	A	G	12: 87,174,164	I216T	probably damaging	Het
Tnni3k	A	T	3: 154,856,549	L697Q	probably damaging	Het
Tra2b	G	A	16: 22,247,190	R286C	unknown	Het
Trav7-6	A	G	14: 53,717,147	K65E	probably benign	Het
Ttn	T	C	2: 76,710,162	D34160G	possibly damaging	Het
Umad1	T	A	6: 8,373,931	C36*	probably null	Het
Ush2a	A	T	1: 188,906,479	T4029S	probably damaging	Het
Usp9y	C	T	Y: 1,316,978	S1857N	probably benign	Het
Zfp583	G	A	7: 6,316,628	P462S	probably damaging	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
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'- TCAGTAGAGGCCAAACATCCAG -3'
(R):5'- TTCATGTATAGACACCGCCTG -3'

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

Posted On

2021-10-11