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

4931403E03Rik

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

138292671-138363195 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 138336135 bp (GRCm39)

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: 95,586,918 (GRCm39)	Y811N	possibly damaging	Het
Adrm1	T	C	2: 179,816,940 (GRCm39)		probably benign	Het
Alms1	T	A	6: 85,598,803 (GRCm39)	S1210T	probably benign	Het
Ampd3	C	T	7: 110,377,015 (GRCm39)	P11L	probably damaging	Het
Arhgap5	A	G	12: 52,563,290 (GRCm39)	E87G	possibly damaging	Het
Armc5	C	T	7: 127,839,242 (GRCm39)		probably benign	Het
Asic2	C	G	11: 80,862,282 (GRCm39)		probably benign	Het
Asph	A	G	4: 9,514,683 (GRCm39)		probably benign	Het
Bicd2	T	A	13: 49,531,351 (GRCm39)		probably null	Het
Brip1	A	G	11: 86,034,131 (GRCm39)	L530P	possibly damaging	Het
Bsn	G	T	9: 107,988,559 (GRCm39)		probably benign	Het
Btnl4	T	A	17: 34,688,608 (GRCm39)	H390L	probably benign	Het
Ccdc70	A	C	8: 22,463,324 (GRCm39)	K38T	probably damaging	Het
Ccni	G	A	5: 93,350,175 (GRCm39)	P35S	probably benign	Het
Cdh17	A	G	4: 11,810,451 (GRCm39)	D714G	possibly damaging	Het
Cenpf	A	G	1: 189,386,181 (GRCm39)	L2033P	probably damaging	Het
Cfap69	A	T	5: 5,671,924 (GRCm39)	M328K	probably damaging	Het
Cmah	T	G	13: 24,601,193 (GRCm39)		probably null	Het
Cog6	T	C	3: 52,918,050 (GRCm39)	T163A	probably benign	Het
Cyp2j8	G	A	4: 96,389,433 (GRCm39)	S130F	probably benign	Het
Dgki	A	G	6: 36,989,831 (GRCm39)	V636A	probably damaging	Het
Dmkn	T	A	7: 30,464,211 (GRCm39)		probably benign	Het
Dnah6	A	G	6: 73,012,276 (GRCm39)	I3679T	possibly damaging	Het
Dsp	A	T	13: 38,380,740 (GRCm39)	Y2495F	possibly damaging	Het
Exosc4	C	T	15: 76,213,689 (GRCm39)	A171V	probably benign	Het
Fbxw24	A	G	9: 109,452,577 (GRCm39)		probably benign	Het
Flvcr1	A	T	1: 190,757,779 (GRCm39)	L171Q	probably damaging	Het
Fsd1	G	T	17: 56,303,445 (GRCm39)		probably null	Het
Gm7732	A	G	17: 21,350,106 (GRCm39)		noncoding transcript	Het
H2-K2	A	C	17: 34,194,597 (GRCm39)		noncoding transcript	Het
Hgf	A	G	5: 16,798,857 (GRCm39)	N295S	probably damaging	Het
Ift88	T	A	14: 57,754,870 (GRCm39)	D811E	probably benign	Het
Igsf9b	T	A	9: 27,234,657 (GRCm39)		probably null	Het
Immt	T	A	6: 71,840,156 (GRCm39)	V311E	probably damaging	Het
Ipo11	T	A	13: 107,056,119 (GRCm39)	N51I	possibly damaging	Het
Isy1	T	C	6: 87,796,158 (GRCm39)	K260E	probably damaging	Het
Jchain	T	G	5: 88,674,061 (GRCm39)	I28L	probably benign	Het
Jmjd1c	T	A	10: 67,054,725 (GRCm39)		probably null	Het
Kif13b	T	C	14: 64,989,111 (GRCm39)		probably benign	Het
Klhdc7b	T	C	15: 89,272,372 (GRCm39)	Y427H	possibly damaging	Het
Klhl8	T	C	5: 104,024,159 (GRCm39)		probably benign	Het
Lrp2	C	T	2: 69,341,292 (GRCm39)	D963N	probably damaging	Het
Ltbp3	G	T	19: 5,796,776 (GRCm39)		probably benign	Het
Ltf	C	A	9: 110,869,447 (GRCm39)	Q41K	probably benign	Het
Med4	T	A	14: 73,754,097 (GRCm39)	I148N	probably damaging	Het
Mlh3	T	G	12: 85,294,471 (GRCm39)	S1242R	possibly damaging	Het
Mllt6	T	C	11: 97,567,185 (GRCm39)		probably benign	Het
Mpdz	A	G	4: 81,210,710 (GRCm39)	I1712T	possibly damaging	Het
Mrgprb4	T	A	7: 47,848,301 (GRCm39)	H209L	probably benign	Het
Nkapl	A	T	13: 21,652,610 (GRCm39)	M1K	probably null	Het
Nmur2	T	A	11: 55,920,324 (GRCm39)		probably benign	Het
Nsun2	T	A	13: 69,691,816 (GRCm39)		probably benign	Het
Or10ag60	A	G	2: 87,438,271 (GRCm39)	I180V	probably benign	Het
Or8k35	G	A	2: 86,424,425 (GRCm39)	T249I	probably benign	Het
Ovgp1	T	C	3: 105,882,146 (GRCm39)		probably benign	Het
Pcdh8	A	G	14: 80,008,131 (GRCm39)	V144A	possibly damaging	Het
Pcnx3	G	A	19: 5,727,756 (GRCm39)		probably benign	Het
Pla2r1	C	A	2: 60,309,874 (GRCm39)	V570L	possibly damaging	Het
Plxnd1	C	A	6: 115,943,599 (GRCm39)	E1202D	possibly damaging	Het
Ppp1r37	T	C	7: 19,266,179 (GRCm39)	E529G	probably benign	Het
Prdm15	A	G	16: 97,613,833 (GRCm39)	F496L	possibly damaging	Het
Prlhr	G	T	19: 60,456,497 (GRCm39)	S23*	probably null	Het
Prlhr	A	T	19: 60,456,443 (GRCm39)	V41D	probably benign	Het
Prpf4	C	T	4: 62,332,777 (GRCm39)		probably benign	Het
Psg26	C	T	7: 18,209,160 (GRCm39)	R416H	probably benign	Het
Psg26	T	C	7: 18,212,212 (GRCm39)	H381R	probably benign	Het
Ralgds	T	G	2: 28,439,128 (GRCm39)	M717R	probably benign	Het
Rbms1	T	C	2: 60,672,756 (GRCm39)	N44D	probably damaging	Het
Rpa1	T	C	11: 75,209,227 (GRCm39)		probably benign	Het
Rprd2	T	C	3: 95,673,699 (GRCm39)	N568S	probably benign	Het
Rptor	A	G	11: 119,763,202 (GRCm39)	M929V	probably benign	Het
Rspo1	T	A	4: 124,900,942 (GRCm39)	C97S	possibly damaging	Het
Scin	C	T	12: 40,129,606 (GRCm39)	G396S	probably damaging	Het
Scn9a	T	C	2: 66,377,456 (GRCm39)	N409D	probably damaging	Het
Sf3b1	A	G	1: 55,058,544 (GRCm39)	I15T	probably damaging	Het
Sh3bp2	T	C	5: 34,712,839 (GRCm39)	V149A	probably damaging	Het
Slc39a12	T	A	2: 14,412,237 (GRCm39)		probably benign	Het
Sp9	G	T	2: 73,104,171 (GRCm39)	A242S	possibly damaging	Het
Srr	A	G	11: 74,801,891 (GRCm39)	V126A	possibly damaging	Het
Tatdn3	G	T	1: 190,785,046 (GRCm39)		probably benign	Het
Tex14	G	A	11: 87,390,439 (GRCm39)	V379I	probably benign	Het
Tmed6	T	C	8: 107,788,356 (GRCm39)	N197S	probably damaging	Het
Ttbk2	A	T	2: 120,575,641 (GRCm39)	I1043N	probably benign	Het
Ttbk2	G	A	2: 120,579,056 (GRCm39)	L689F	probably benign	Het
Ttn	A	G	2: 76,641,040 (GRCm39)	S5283P	probably damaging	Het
Ube3b	C	A	5: 114,540,616 (GRCm39)	S441*	probably null	Het
Ush2a	G	A	1: 188,530,027 (GRCm39)	C3272Y	probably damaging	Het
Vac14	T	A	8: 111,359,109 (GRCm39)	I95K	probably damaging	Het
Vangl2	G	A	1: 171,833,784 (GRCm39)	A433V	probably damaging	Het
Zfhx3	T	A	8: 109,682,282 (GRCm39)	D3240E	unknown	Het
Zfp945	A	G	17: 23,070,004 (GRCm39)	C632R	probably damaging	Het
Zfyve26	G	A	12: 79,312,576 (GRCm39)		probably benign	Het
Zyg11b	A	T	4: 108,099,273 (GRCm39)	I606N	possibly damaging	Het

Other mutations in Vwa5b1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01952:Vwa5b1	APN	4	138,308,528 (GRCm39)	missense	probably benign	0.08
IGL02133:Vwa5b1	APN	4	138,313,868 (GRCm39)	critical splice donor site	probably null
IGL02379:Vwa5b1	APN	4	138,340,170 (GRCm39)	missense	probably damaging	1.00
IGL02671:Vwa5b1	APN	4	138,296,437 (GRCm39)	nonsense	probably null
IGL02864:Vwa5b1	APN	4	138,336,286 (GRCm39)	missense	probably benign	0.00
IGL03076:Vwa5b1	APN	4	138,327,499 (GRCm39)	missense	probably damaging	1.00
IGL03115:Vwa5b1	APN	4	138,327,460 (GRCm39)	missense	possibly damaging	0.93
IGL03119:Vwa5b1	APN	4	138,333,852 (GRCm39)	missense	probably benign	0.01
PIT4283001:Vwa5b1	UTSW	4	138,327,574 (GRCm39)	missense	probably damaging	1.00
R0114:Vwa5b1	UTSW	4	138,336,169 (GRCm39)	nonsense	probably null
R0157:Vwa5b1	UTSW	4	138,332,190 (GRCm39)	missense	probably benign	0.00
R0528:Vwa5b1	UTSW	4	138,321,662 (GRCm39)	missense	probably damaging	1.00
R0562:Vwa5b1	UTSW	4	138,363,022 (GRCm39)	splice site	probably benign
R1555:Vwa5b1	UTSW	4	138,332,788 (GRCm39)	missense	probably benign	0.02
R1573:Vwa5b1	UTSW	4	138,332,184 (GRCm39)	missense	probably damaging	1.00
R1857:Vwa5b1	UTSW	4	138,296,413 (GRCm39)	missense	probably damaging	1.00
R1883:Vwa5b1	UTSW	4	138,302,700 (GRCm39)	missense	probably damaging	0.96
R1906:Vwa5b1	UTSW	4	138,327,547 (GRCm39)	missense	possibly damaging	0.93
R1913:Vwa5b1	UTSW	4	138,319,331 (GRCm39)	nonsense	probably null
R2121:Vwa5b1	UTSW	4	138,315,880 (GRCm39)	missense	probably benign	0.00
R2213:Vwa5b1	UTSW	4	138,332,123 (GRCm39)	missense	probably benign	0.00
R2355:Vwa5b1	UTSW	4	138,319,221 (GRCm39)	critical splice donor site	probably null
R2655:Vwa5b1	UTSW	4	138,321,614 (GRCm39)	missense	probably damaging	1.00
R4134:Vwa5b1	UTSW	4	138,321,641 (GRCm39)	missense	possibly damaging	0.69
R4135:Vwa5b1	UTSW	4	138,321,641 (GRCm39)	missense	possibly damaging	0.69
R4635:Vwa5b1	UTSW	4	138,338,150 (GRCm39)	missense	possibly damaging	0.82
R4773:Vwa5b1	UTSW	4	138,309,066 (GRCm39)	missense	probably benign	0.01
R4832:Vwa5b1	UTSW	4	138,332,851 (GRCm39)	missense	probably damaging	1.00
R4906:Vwa5b1	UTSW	4	138,338,058 (GRCm39)	missense	probably benign	0.03
R4916:Vwa5b1	UTSW	4	138,321,573 (GRCm39)	missense	possibly damaging	0.81
R4995:Vwa5b1	UTSW	4	138,336,154 (GRCm39)	missense	probably damaging	1.00
R5573:Vwa5b1	UTSW	4	138,336,201 (GRCm39)	missense	probably damaging	1.00
R5872:Vwa5b1	UTSW	4	138,305,962 (GRCm39)	missense	possibly damaging	0.63
R6255:Vwa5b1	UTSW	4	138,305,983 (GRCm39)	missense	probably benign	0.00
R6811:Vwa5b1	UTSW	4	138,319,414 (GRCm39)	missense	probably benign	0.00
R6901:Vwa5b1	UTSW	4	138,313,880 (GRCm39)	missense	probably benign
R7144:Vwa5b1	UTSW	4	138,332,742 (GRCm39)	critical splice donor site	probably null
R7146:Vwa5b1	UTSW	4	138,308,923 (GRCm39)	missense	probably benign	0.00
R7159:Vwa5b1	UTSW	4	138,302,733 (GRCm39)	missense	possibly damaging	0.56
R7362:Vwa5b1	UTSW	4	138,321,623 (GRCm39)	missense	probably damaging	1.00
R7690:Vwa5b1	UTSW	4	138,318,244 (GRCm39)	missense	probably damaging	0.98
R7908:Vwa5b1	UTSW	4	138,296,481 (GRCm39)	nonsense	probably null
R7965:Vwa5b1	UTSW	4	138,332,800 (GRCm39)	missense	probably damaging	1.00
R8865:Vwa5b1	UTSW	4	138,308,530 (GRCm39)	missense	probably benign	0.02
R8866:Vwa5b1	UTSW	4	138,327,628 (GRCm39)	missense	probably damaging	1.00
R8872:Vwa5b1	UTSW	4	138,305,956 (GRCm39)	missense	probably damaging	1.00
R8889:Vwa5b1	UTSW	4	138,338,041 (GRCm39)	missense	probably benign	0.01
R9045:Vwa5b1	UTSW	4	138,315,990 (GRCm39)	missense	probably damaging	1.00
R9089:Vwa5b1	UTSW	4	138,296,742 (GRCm39)	missense	probably benign	0.08
R9273:Vwa5b1	UTSW	4	138,316,005 (GRCm39)	missense	probably damaging	1.00
R9366:Vwa5b1	UTSW	4	138,318,229 (GRCm39)	missense	probably damaging	0.97
R9450:Vwa5b1	UTSW	4	138,315,940 (GRCm39)	missense	possibly damaging	0.89
R9646:Vwa5b1	UTSW	4	138,319,420 (GRCm39)	missense	probably damaging	0.97
Z1177:Vwa5b1	UTSW	4	138,340,149 (GRCm39)	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