Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01952:Vwa5b1'

181078

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Vwa5b1

Ensembl Gene

ENSMUSG00000028753

Gene Name

von Willebrand factor A domain containing 5B1

Synonyms

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL01952

Quality Score

Status

Chromosome

Chromosomal Location

138565360-138635884 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 138581217 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Proline to Serine at position 770 (P770S)

Ref Sequence

ENSEMBL: ENSMUSP00000030533 (fasta)

Gene Model

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

AlphaFold

A9Z1V5

Predicted Effect

probably benign
Transcript: ENSMUST00000030533
AA Change: P770S

PolyPhen 2 Score 0.084 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000030533
Gene: ENSMUSG00000028753
AA Change: P770S

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

probably benign
Transcript: ENSMUST00000137206

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 35 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Astl	T	C	2: 127,342,478		probably null	Het
Bod1l	C	T	5: 41,816,954	C2339Y	possibly damaging	Het
C130026I21Rik	A	G	1: 85,254,186		probably benign	Het
Celsr1	T	A	15: 85,963,223	I1438F	probably benign	Het
Dbr1	T	A	9: 99,582,412	N297K	possibly damaging	Het
Dmxl1	A	G	18: 49,890,654	H1668R	probably benign	Het
Dnajb11	A	G	16: 22,865,500	E91G	probably damaging	Het
Elmsan1	G	A	12: 84,173,266	P305S	probably benign	Het
Gm10717	C	T	9: 3,025,616	S67L	probably benign	Het
Gm10718	A	T	9: 3,025,118	Y194F	probably benign	Het
Grin2d	C	A	7: 45,862,280	R247L	probably benign	Het
Gzf1	G	A	2: 148,684,061	A151T	probably benign	Het
Hacl1	C	T	14: 31,641,122		probably benign	Het
Hivep2	C	A	10: 14,142,331	T1854K	possibly damaging	Het
Htr1d	T	C	4: 136,443,561	V367A	probably benign	Het
Ifi208	T	C	1: 173,679,031	S127P	possibly damaging	Het
Ifngr2	C	T	16: 91,559,988	P137S	probably damaging	Het
Lcn9	T	C	2: 25,824,538	L138P	probably damaging	Het
Mdn1	T	C	4: 32,723,657	V2531A	possibly damaging	Het
Meioc	A	T	11: 102,672,185	I70F	possibly damaging	Het
Mlph	A	C	1: 90,933,471	D276A	probably benign	Het
Myh1	T	A	11: 67,220,392		probably null	Het
Nlrp9a	G	A	7: 26,558,019	S265N	probably benign	Het
Ofcc1	G	A	13: 40,280,861	A22V	probably damaging	Het
Olfr736	T	A	14: 50,393,403	F216I	probably benign	Het
Pisd	C	A	5: 32,739,132		probably null	Het
Prlr	A	G	15: 10,328,342	D301G	possibly damaging	Het
Ptk2	T	C	15: 73,229,931	E810G	probably damaging	Het
Slco1b2	T	G	6: 141,671,230	F430V	probably benign	Het
Supt6	T	C	11: 78,225,760	K646R	probably benign	Het
Tmem260	C	T	14: 48,472,476	A52V	probably damaging	Het
Tmpo	G	A	10: 91,163,242	R228C	probably benign	Het
Tulp1	G	A	17: 28,356,424	T103M	probably damaging	Het
Wdr63	T	C	3: 146,097,163	H91R	probably damaging	Het
Zfp639	A	G	3: 32,515,347	Y18C	probably damaging	Het

Other mutations in Vwa5b1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
R0528:Vwa5b1	UTSW	4	138594351	missense	probably damaging	1.00
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
R8865:Vwa5b1	UTSW	4	138581219	missense	probably benign	0.02
R8866:Vwa5b1	UTSW	4	138600317	missense	probably damaging	1.00
R8872:Vwa5b1	UTSW	4	138578645	missense	probably damaging	1.00
R8889:Vwa5b1	UTSW	4	138610730	missense	probably benign	0.01
R9045:Vwa5b1	UTSW	4	138588679	missense	probably damaging	1.00
R9089:Vwa5b1	UTSW	4	138569431	missense	probably benign	0.08
R9273:Vwa5b1	UTSW	4	138588694	missense	probably damaging	1.00
R9366:Vwa5b1	UTSW	4	138590918	missense	probably damaging	0.97
R9450:Vwa5b1	UTSW	4	138588629	missense	possibly damaging	0.89
R9646:Vwa5b1	UTSW	4	138592109	missense	probably damaging	0.97
Z1177:Vwa5b1	UTSW	4	138612838	missense	probably damaging	1.00

Posted On

2014-05-07