Mutagenetix > Incidental Mutations

Incidental Mutation 'R0528:Vwa5b1'

48979

Institutional Source

Beutler Lab

Gene Symbol

Vwa5b1

Ensembl Gene

ENSMUSG00000028753

Gene Name

von Willebrand factor A domain containing 5B1

Synonyms

MMRRC Submission

038720-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0528 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

138565360-138635884 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 138594351 bp

Zygosity

Heterozygous

Amino Acid Change

Leucine to Glutamine at position 377 (L377Q)

Ref Sequence

ENSEMBL: ENSMUSP00000030533 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000030533
AA Change: L377Q

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

SMART Domains

Protein: ENSMUSP00000030533
Gene: ENSMUSG00000028753
AA Change: L377Q

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: ENSMUST00000154312

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.0%
3x: 98.1%
10x: 95.7%
20x: 90.9%

Validation Efficiency

96% (65/68)

Allele List at MGI

Other mutations in this stock

Total: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca7	T	G	10: 80,003,014	W674G	probably damaging	Het
Abcc9	G	A	6: 142,692,880	H103Y	probably damaging	Het
Ano7	A	G	1: 93,395,502	N495S	probably null	Het
Ash1l	A	G	3: 88,982,277	N488D	probably benign	Het
Astn2	A	G	4: 65,644,882		probably benign	Het
Atraid	T	A	5: 31,052,452		probably benign	Het
Baz2b	T	C	2: 59,936,739	R866G	probably damaging	Het
Cep164	T	A	9: 45,776,936		probably benign	Het
Clec4f	G	A	6: 83,652,794	Q261*	probably null	Het
Cpne4	A	T	9: 104,686,441	N6Y	probably damaging	Het
Dhx38	G	T	8: 109,562,661	Q36K	probably benign	Het
Dna2	C	A	10: 62,958,131	Q341K	probably benign	Het
Dynap	A	G	18: 70,242,094		probably benign	Het
Eif3l	T	C	15: 79,089,609	V408A	probably benign	Het
Foxi3	T	A	6: 70,957,138	I203N	probably damaging	Het
Gcc2	T	A	10: 58,298,689	L1495Q	probably damaging	Het
Gpr158	A	G	2: 21,825,208	D688G	probably damaging	Het
Hcfc2	C	A	10: 82,739,245	T246K	probably damaging	Het
Hdc	C	T	2: 126,616,232	E57K	probably benign	Het
Iqsec3	G	C	6: 121,412,784		probably benign	Het
Islr2	T	A	9: 58,199,362	E205V	probably damaging	Het
Klf9	T	C	19: 23,142,134	L127P	probably benign	Het
Lamc2	A	T	1: 153,124,094	L1173Q	probably damaging	Het
Lipe	G	A	7: 25,398,476	T14I	possibly damaging	Het
Lnpep	A	G	17: 17,531,132		probably benign	Het
Lrrc15	A	G	16: 30,273,748	S258P	probably damaging	Het
Macc1	A	T	12: 119,447,045	Y516F	probably benign	Het
Megf6	A	G	4: 154,259,173	T718A	probably benign	Het
Myh1	A	G	11: 67,220,619	D1628G	probably damaging	Het
Naca	C	T	10: 128,043,293	T1398I	probably benign	Het
Olfr1366	A	G	13: 21,537,246	F238S	possibly damaging	Het
Olfr441	A	T	6: 43,116,216	H158L	possibly damaging	Het
Padi4	A	G	4: 140,769,429	V52A	possibly damaging	Het
Paqr5	G	A	9: 61,956,245	T251I	probably damaging	Het
Pcm1	A	G	8: 41,315,930	D1611G	probably damaging	Het
Prss12	G	A	3: 123,482,796	R358K	probably benign	Het
Racgap1	A	T	15: 99,628,706	H325Q	probably damaging	Het
Rbm12b1	A	G	4: 12,145,657	H543R	probably benign	Het
Rc3h1	A	T	1: 160,967,658	N1076I	probably damaging	Het
Rp1	A	G	1: 4,344,865	L2008P	possibly damaging	Het
Rsph3a	A	G	17: 7,946,087	H93R	possibly damaging	Het
Sbf1	C	T	15: 89,288,712	R1840H	probably damaging	Het
Soga1	A	G	2: 157,020,692	L1439P	probably damaging	Het
Svs1	T	A	6: 48,988,031	D324E	probably benign	Het
Sytl2	T	C	7: 90,403,020		probably benign	Het
Tbc1d9	T	C	8: 83,210,456	S56P	probably damaging	Het
Tiam2	A	T	17: 3,511,071	M1304L	probably damaging	Het
Tmprss11b	G	T	5: 86,671,894	R9S	probably damaging	Het
Tnfrsf21	T	A	17: 43,037,614	I39N	probably benign	Het
Tnrc6b	T	C	15: 80,879,403	S369P	probably benign	Het
Tpra1	T	C	6: 88,910,390	V217A	probably benign	Het
Uckl1	G	C	2: 181,570,490		probably benign	Het
Vmn1r199	A	T	13: 22,382,566	Q10L	probably benign	Het
Vmn2r76	A	G	7: 86,230,298	S265P	possibly damaging	Het
Wdr61	T	A	9: 54,722,935		probably benign	Het
Wrap73	A	G	4: 154,145,319	D49G	probably damaging	Het
Zfp764	T	A	7: 127,404,879	Q360L	possibly damaging	Het
Zfp846	G	A	9: 20,587,928		probably benign	Het
Zranb2	T	C	3: 157,534,459	I14T	probably benign	Het

Other mutations in Vwa5b1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01952:Vwa5b1	APN	4	138581217	missense	probably benign	0.08
IGL02133:Vwa5b1	APN	4	138586557	critical splice donor site	probably null
IGL02379:Vwa5b1	APN	4	138612859	missense	probably damaging	1.00
IGL02671:Vwa5b1	APN	4	138569126	nonsense	probably null
IGL02864:Vwa5b1	APN	4	138608975	missense	probably benign	0.00
IGL03076:Vwa5b1	APN	4	138600188	missense	probably damaging	1.00
IGL03115:Vwa5b1	APN	4	138600149	missense	possibly damaging	0.93
IGL03119:Vwa5b1	APN	4	138606541	missense	probably benign	0.01
PIT4283001:Vwa5b1	UTSW	4	138600263	missense	probably damaging	1.00
R0114:Vwa5b1	UTSW	4	138608858	nonsense	probably null
R0157:Vwa5b1	UTSW	4	138604879	missense	probably benign	0.00
R0562:Vwa5b1	UTSW	4	138635711	splice site	probably benign
R0718:Vwa5b1	UTSW	4	138608824	missense	probably damaging	1.00
R1555:Vwa5b1	UTSW	4	138605477	missense	probably benign	0.02
R1573:Vwa5b1	UTSW	4	138604873	missense	probably damaging	1.00
R1857:Vwa5b1	UTSW	4	138569102	missense	probably damaging	1.00
R1883:Vwa5b1	UTSW	4	138575389	missense	probably damaging	0.96
R1906:Vwa5b1	UTSW	4	138600236	missense	possibly damaging	0.93
R1913:Vwa5b1	UTSW	4	138592020	nonsense	probably null
R2121:Vwa5b1	UTSW	4	138588569	missense	probably benign	0.00
R2213:Vwa5b1	UTSW	4	138604812	missense	probably benign	0.00
R2355:Vwa5b1	UTSW	4	138591910	critical splice donor site	probably null
R2655:Vwa5b1	UTSW	4	138594303	missense	probably damaging	1.00
R4134:Vwa5b1	UTSW	4	138594330	missense	possibly damaging	0.69
R4135:Vwa5b1	UTSW	4	138594330	missense	possibly damaging	0.69
R4635:Vwa5b1	UTSW	4	138610839	missense	possibly damaging	0.82
R4773:Vwa5b1	UTSW	4	138581755	missense	probably benign	0.01
R4832:Vwa5b1	UTSW	4	138605540	missense	probably damaging	1.00
R4906:Vwa5b1	UTSW	4	138610747	missense	probably benign	0.03
R4916:Vwa5b1	UTSW	4	138594262	missense	possibly damaging	0.81
R4995:Vwa5b1	UTSW	4	138608843	missense	probably damaging	1.00
R5573:Vwa5b1	UTSW	4	138608890	missense	probably damaging	1.00
R5872:Vwa5b1	UTSW	4	138578651	missense	possibly damaging	0.63
R6255:Vwa5b1	UTSW	4	138578672	missense	probably benign	0.00
R6811:Vwa5b1	UTSW	4	138592103	missense	probably benign	0.00
R6901:Vwa5b1	UTSW	4	138586569	missense	probably benign
R7144:Vwa5b1	UTSW	4	138605431	critical splice donor site	probably null
R7146:Vwa5b1	UTSW	4	138581612	missense	probably benign	0.00
R7159:Vwa5b1	UTSW	4	138575422	missense	possibly damaging	0.56
R7362:Vwa5b1	UTSW	4	138594312	missense	probably damaging	1.00
R7690:Vwa5b1	UTSW	4	138590933	missense	probably damaging	0.98
R7908:Vwa5b1	UTSW	4	138569170	nonsense	probably null
R7965:Vwa5b1	UTSW	4	138605489	missense	probably damaging	1.00
Z1177:Vwa5b1	UTSW	4	138612838	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AGCATCTGACGATCCCCAGGATAAC -3'
(R):5'- TGATGGAACTCTGAGGCCATTGC -3'

Sequencing Primer
(F):5'- CCAGGATAACCTCAGATGCTGTG -3'
(R):5'- ATCACTTTGATGGGCCAGC -3'

Posted On

2013-06-12