Mutagenetix > Incidental Mutation

Incidental Mutation 'R0718:Vwa5b1'

63688

Institutional Source

Beutler Lab

Gene Symbol

Vwa5b1

Ensembl Gene

ENSMUSG00000028753

Gene Name

von Willebrand factor A domain containing 5B1

Synonyms

MMRRC Submission

038900-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0718 (G1)

Quality Score

107

Status

Validated

Chromosome

Chromosomal Location

138565360-138635884 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 138608824 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Aspartic acid at position 153 (V153D)

Ref Sequence

ENSEMBL: ENSMUSP00000030533 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000030533] [ENSMUST00000105812]

AlphaFold

A9Z1V5

Predicted Effect

probably damaging
Transcript: ENSMUST00000030533
AA Change: V153D

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

SMART Domains

Protein: ENSMUSP00000030533
Gene: ENSMUSG00000028753
AA Change: V153D

Domain	Start	End	E-Value	Type
Pfam:VIT_2	2	79	2e-28	PFAM
Pfam:VIT	15	138	1.5e-7	PFAM
VWA	351	513	6.04e-8	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000105812

SMART Domains

Protein: ENSMUSP00000101438
Gene: ENSMUSG00000028753

Domain	Start	End	E-Value	Type
Pfam:VIT_2	16	93	1.9e-30	PFAM
Pfam:VIT	29	103	2.1e-7	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000133319

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000154312

Meta Mutation Damage Score

0.7854

Coding Region Coverage

1x: 99.3%
3x: 98.8%
10x: 97.6%
20x: 95.9%

Validation Efficiency

100% (96/96)

Allele List at MGI

Other mutations in this stock

Total: 93 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamtsl4	A	T	3: 95,679,608 (GRCm38)	Y811N	possibly damaging	Het
Adrm1	T	C	2: 180,175,147 (GRCm38)		probably benign	Het
Alms1	T	A	6: 85,621,821 (GRCm38)	S1210T	probably benign	Het
Ampd3	C	T	7: 110,777,808 (GRCm38)	P11L	probably damaging	Het
Arhgap5	A	G	12: 52,516,507 (GRCm38)	E87G	possibly damaging	Het
Armc5	C	T	7: 128,240,070 (GRCm38)		probably benign	Het
Asic2	C	G	11: 80,971,456 (GRCm38)		probably benign	Het
Asph	A	G	4: 9,514,683 (GRCm38)		probably benign	Het
Bicd2	T	A	13: 49,377,875 (GRCm38)		probably null	Het
Brip1	A	G	11: 86,143,305 (GRCm38)	L530P	possibly damaging	Het
Bsn	G	T	9: 108,111,360 (GRCm38)		probably benign	Het
Btnl4	T	A	17: 34,469,634 (GRCm38)	H390L	probably benign	Het
Ccdc70	A	C	8: 21,973,308 (GRCm38)	K38T	probably damaging	Het
Ccni	G	A	5: 93,202,316 (GRCm38)	P35S	probably benign	Het
Cdh17	A	G	4: 11,810,451 (GRCm38)	D714G	possibly damaging	Het
Cenpf	A	G	1: 189,653,984 (GRCm38)	L2033P	probably damaging	Het
Cfap69	A	T	5: 5,621,924 (GRCm38)	M328K	probably damaging	Het
Cmah	T	G	13: 24,417,210 (GRCm38)		probably null	Het
Cog6	T	C	3: 53,010,629 (GRCm38)	T163A	probably benign	Het
Cyp2j8	G	A	4: 96,501,196 (GRCm38)	S130F	probably benign	Het
Dgki	A	G	6: 37,012,896 (GRCm38)	V636A	probably damaging	Het
Dmkn	T	A	7: 30,764,786 (GRCm38)		probably benign	Het
Dnah6	A	G	6: 73,035,293 (GRCm38)	I3679T	possibly damaging	Het
Dsp	A	T	13: 38,196,764 (GRCm38)	Y2495F	possibly damaging	Het
Exosc4	C	T	15: 76,329,489 (GRCm38)	A171V	probably benign	Het
Fbxw24	A	G	9: 109,623,509 (GRCm38)		probably benign	Het
Flvcr1	A	T	1: 191,025,582 (GRCm38)	L171Q	probably damaging	Het
Fsd1	G	T	17: 55,996,445 (GRCm38)		probably null	Het
Gm7732	A	G	17: 21,129,844 (GRCm38)		noncoding transcript	Het
H2-K2	A	C	17: 33,975,623 (GRCm38)		noncoding transcript	Het
Hgf	A	G	5: 16,593,859 (GRCm38)	N295S	probably damaging	Het
Ift88	T	A	14: 57,517,413 (GRCm38)	D811E	probably benign	Het
Igsf9b	T	A	9: 27,323,361 (GRCm38)		probably null	Het
Immt	T	A	6: 71,863,172 (GRCm38)	V311E	probably damaging	Het
Ipo11	T	A	13: 106,919,611 (GRCm38)	N51I	possibly damaging	Het
Isy1	T	C	6: 87,819,176 (GRCm38)	K260E	probably damaging	Het
Jchain	T	G	5: 88,526,202 (GRCm38)	I28L	probably benign	Het
Jmjd1c	T	A	10: 67,218,946 (GRCm38)		probably null	Het
Kif13b	T	C	14: 64,751,662 (GRCm38)		probably benign	Het
Klhdc7b	T	C	15: 89,388,169 (GRCm38)	Y427H	possibly damaging	Het
Klhl8	T	C	5: 103,876,293 (GRCm38)		probably benign	Het
Lrp2	C	T	2: 69,510,948 (GRCm38)	D963N	probably damaging	Het
Ltbp3	G	T	19: 5,746,748 (GRCm38)		probably benign	Het
Ltf	C	A	9: 111,040,379 (GRCm38)	Q41K	probably benign	Het
Med4	T	A	14: 73,516,657 (GRCm38)	I148N	probably damaging	Het
Mlh3	T	G	12: 85,247,697 (GRCm38)	S1242R	possibly damaging	Het
Mllt6	T	C	11: 97,676,359 (GRCm38)		probably benign	Het
Mpdz	A	G	4: 81,292,473 (GRCm38)	I1712T	possibly damaging	Het
Mrgprb4	T	A	7: 48,198,553 (GRCm38)	H209L	probably benign	Het
Nkapl	A	T	13: 21,468,440 (GRCm38)	M1K	probably null	Het
Nmur2	T	A	11: 56,029,498 (GRCm38)		probably benign	Het
Nsun2	T	A	13: 69,543,697 (GRCm38)		probably benign	Het
Olfr1082	G	A	2: 86,594,081 (GRCm38)	T249I	probably benign	Het
Olfr1130	A	G	2: 87,607,927 (GRCm38)	I180V	probably benign	Het
Ovgp1	T	C	3: 105,974,830 (GRCm38)		probably benign	Het
Pcdh8	A	G	14: 79,770,691 (GRCm38)	V144A	possibly damaging	Het
Pcnx3	G	A	19: 5,677,728 (GRCm38)		probably benign	Het
Pla2r1	C	A	2: 60,479,530 (GRCm38)	V570L	possibly damaging	Het
Plxnd1	C	A	6: 115,966,638 (GRCm38)	E1202D	possibly damaging	Het
Ppp1r37	T	C	7: 19,532,254 (GRCm38)	E529G	probably benign	Het
Prdm15	A	G	16: 97,812,633 (GRCm38)	F496L	possibly damaging	Het
Prlhr	A	T	19: 60,468,005 (GRCm38)	V41D	probably benign	Het
Prlhr	G	T	19: 60,468,059 (GRCm38)	S23*	probably null	Het
Prpf4	C	T	4: 62,414,540 (GRCm38)		probably benign	Het
Psg26	T	C	7: 18,478,287 (GRCm38)	H381R	probably benign	Het
Psg26	C	T	7: 18,475,235 (GRCm38)	R416H	probably benign	Het
Ralgds	T	G	2: 28,549,116 (GRCm38)	M717R	probably benign	Het
Rbms1	T	C	2: 60,842,412 (GRCm38)	N44D	probably damaging	Het
Rpa1	T	C	11: 75,318,401 (GRCm38)		probably benign	Het
Rprd2	T	C	3: 95,766,387 (GRCm38)	N568S	probably benign	Het
Rptor	A	G	11: 119,872,376 (GRCm38)	M929V	probably benign	Het
Rspo1	T	A	4: 125,007,149 (GRCm38)	C97S	possibly damaging	Het
Scin	C	T	12: 40,079,607 (GRCm38)	G396S	probably damaging	Het
Scn9a	T	C	2: 66,547,112 (GRCm38)	N409D	probably damaging	Het
Sf3b1	A	G	1: 55,019,385 (GRCm38)	I15T	probably damaging	Het
Sh3bp2	T	C	5: 34,555,495 (GRCm38)	V149A	probably damaging	Het
Slc39a12	T	A	2: 14,407,426 (GRCm38)		probably benign	Het
Sp9	G	T	2: 73,273,827 (GRCm38)	A242S	possibly damaging	Het
Srr	A	G	11: 74,911,065 (GRCm38)	V126A	possibly damaging	Het
Tatdn3	G	T	1: 191,052,849 (GRCm38)		probably benign	Het
Tex14	G	A	11: 87,499,613 (GRCm38)	V379I	probably benign	Het
Tmed6	T	C	8: 107,061,724 (GRCm38)	N197S	probably damaging	Het
Ttbk2	G	A	2: 120,748,575 (GRCm38)	L689F	probably benign	Het
Ttbk2	A	T	2: 120,745,160 (GRCm38)	I1043N	probably benign	Het
Ttn	A	G	2: 76,810,696 (GRCm38)	S5283P	probably damaging	Het
Ube3b	C	A	5: 114,402,555 (GRCm38)	S441*	probably null	Het
Ush2a	G	A	1: 188,797,830 (GRCm38)	C3272Y	probably damaging	Het
Vac14	T	A	8: 110,632,477 (GRCm38)	I95K	probably damaging	Het
Vangl2	G	A	1: 172,006,217 (GRCm38)	A433V	probably damaging	Het
Zfhx3	T	A	8: 108,955,650 (GRCm38)	D3240E	unknown	Het
Zfp945	A	G	17: 22,851,030 (GRCm38)	C632R	probably damaging	Het
Zfyve26	G	A	12: 79,265,802 (GRCm38)		probably benign	Het
Zyg11b	A	T	4: 108,242,076 (GRCm38)	I606N	possibly damaging	Het

Other mutations in Vwa5b1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01952:Vwa5b1	APN	4	138,581,217 (GRCm38)	missense	probably benign	0.08
IGL02133:Vwa5b1	APN	4	138,586,557 (GRCm38)	critical splice donor site	probably null
IGL02379:Vwa5b1	APN	4	138,612,859 (GRCm38)	missense	probably damaging	1.00
IGL02671:Vwa5b1	APN	4	138,569,126 (GRCm38)	nonsense	probably null
IGL02864:Vwa5b1	APN	4	138,608,975 (GRCm38)	missense	probably benign	0.00
IGL03076:Vwa5b1	APN	4	138,600,188 (GRCm38)	missense	probably damaging	1.00
IGL03115:Vwa5b1	APN	4	138,600,149 (GRCm38)	missense	possibly damaging	0.93
IGL03119:Vwa5b1	APN	4	138,606,541 (GRCm38)	missense	probably benign	0.01
PIT4283001:Vwa5b1	UTSW	4	138,600,263 (GRCm38)	missense	probably damaging	1.00
R0114:Vwa5b1	UTSW	4	138,608,858 (GRCm38)	nonsense	probably null
R0157:Vwa5b1	UTSW	4	138,604,879 (GRCm38)	missense	probably benign	0.00
R0528:Vwa5b1	UTSW	4	138,594,351 (GRCm38)	missense	probably damaging	1.00
R0562:Vwa5b1	UTSW	4	138,635,711 (GRCm38)	splice site	probably benign
R1555:Vwa5b1	UTSW	4	138,605,477 (GRCm38)	missense	probably benign	0.02
R1573:Vwa5b1	UTSW	4	138,604,873 (GRCm38)	missense	probably damaging	1.00
R1857:Vwa5b1	UTSW	4	138,569,102 (GRCm38)	missense	probably damaging	1.00
R1883:Vwa5b1	UTSW	4	138,575,389 (GRCm38)	missense	probably damaging	0.96
R1906:Vwa5b1	UTSW	4	138,600,236 (GRCm38)	missense	possibly damaging	0.93
R1913:Vwa5b1	UTSW	4	138,592,020 (GRCm38)	nonsense	probably null
R2121:Vwa5b1	UTSW	4	138,588,569 (GRCm38)	missense	probably benign	0.00
R2213:Vwa5b1	UTSW	4	138,604,812 (GRCm38)	missense	probably benign	0.00
R2355:Vwa5b1	UTSW	4	138,591,910 (GRCm38)	critical splice donor site	probably null
R2655:Vwa5b1	UTSW	4	138,594,303 (GRCm38)	missense	probably damaging	1.00
R4134:Vwa5b1	UTSW	4	138,594,330 (GRCm38)	missense	possibly damaging	0.69
R4135:Vwa5b1	UTSW	4	138,594,330 (GRCm38)	missense	possibly damaging	0.69
R4635:Vwa5b1	UTSW	4	138,610,839 (GRCm38)	missense	possibly damaging	0.82
R4773:Vwa5b1	UTSW	4	138,581,755 (GRCm38)	missense	probably benign	0.01
R4832:Vwa5b1	UTSW	4	138,605,540 (GRCm38)	missense	probably damaging	1.00
R4906:Vwa5b1	UTSW	4	138,610,747 (GRCm38)	missense	probably benign	0.03
R4916:Vwa5b1	UTSW	4	138,594,262 (GRCm38)	missense	possibly damaging	0.81
R4995:Vwa5b1	UTSW	4	138,608,843 (GRCm38)	missense	probably damaging	1.00
R5573:Vwa5b1	UTSW	4	138,608,890 (GRCm38)	missense	probably damaging	1.00
R5872:Vwa5b1	UTSW	4	138,578,651 (GRCm38)	missense	possibly damaging	0.63
R6255:Vwa5b1	UTSW	4	138,578,672 (GRCm38)	missense	probably benign	0.00
R6811:Vwa5b1	UTSW	4	138,592,103 (GRCm38)	missense	probably benign	0.00
R6901:Vwa5b1	UTSW	4	138,586,569 (GRCm38)	missense	probably benign
R7144:Vwa5b1	UTSW	4	138,605,431 (GRCm38)	critical splice donor site	probably null
R7146:Vwa5b1	UTSW	4	138,581,612 (GRCm38)	missense	probably benign	0.00
R7159:Vwa5b1	UTSW	4	138,575,422 (GRCm38)	missense	possibly damaging	0.56
R7362:Vwa5b1	UTSW	4	138,594,312 (GRCm38)	missense	probably damaging	1.00
R7690:Vwa5b1	UTSW	4	138,590,933 (GRCm38)	missense	probably damaging	0.98
R7908:Vwa5b1	UTSW	4	138,569,170 (GRCm38)	nonsense	probably null
R7965:Vwa5b1	UTSW	4	138,605,489 (GRCm38)	missense	probably damaging	1.00
R8865:Vwa5b1	UTSW	4	138,581,219 (GRCm38)	missense	probably benign	0.02
R8866:Vwa5b1	UTSW	4	138,600,317 (GRCm38)	missense	probably damaging	1.00
R8872:Vwa5b1	UTSW	4	138,578,645 (GRCm38)	missense	probably damaging	1.00
R8889:Vwa5b1	UTSW	4	138,610,730 (GRCm38)	missense	probably benign	0.01
R9045:Vwa5b1	UTSW	4	138,588,679 (GRCm38)	missense	probably damaging	1.00
R9089:Vwa5b1	UTSW	4	138,569,431 (GRCm38)	missense	probably benign	0.08
R9273:Vwa5b1	UTSW	4	138,588,694 (GRCm38)	missense	probably damaging	1.00
R9366:Vwa5b1	UTSW	4	138,590,918 (GRCm38)	missense	probably damaging	0.97
R9450:Vwa5b1	UTSW	4	138,588,629 (GRCm38)	missense	possibly damaging	0.89
R9646:Vwa5b1	UTSW	4	138,592,109 (GRCm38)	missense	probably damaging	0.97
Z1177:Vwa5b1	UTSW	4	138,612,838 (GRCm38)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AGCCTTGCACTTCTGCCAGAAC -3'
(R):5'- AGCCAACTTGGCACTTAGGGAAC -3'

Sequencing Primer
(F):5'- CAGAACCAAGATGGGGCTTTTC -3'
(R):5'- ttggcacttagggaactttcCG -3'

Posted On

2013-07-30