Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL03119:Vwa5b1'

409926

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

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL03119

Quality Score

Status

Chromosome

Chromosomal Location

138565360-138635884 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 138606541 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 193 (S193P)

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: S193P

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000030533
Gene: ENSMUSG00000028753
AA Change: S193P

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

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 33 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb1a	A	G	5: 8,714,887	T626A	probably benign	Het
Adcy1	C	T	11: 7,109,051	T319I	probably damaging	Het
Adgrv1	A	G	13: 81,382,373	S5861P	probably damaging	Het
Adgrv1	A	C	13: 81,433,700	C4742G	probably benign	Het
Arid5b	A	T	10: 68,243,227	D93E	probably damaging	Het
Atp6v1h	A	G	1: 5,095,669	T121A	probably benign	Het
Atxn7	C	T	14: 14,100,734	L807F	probably damaging	Het
Cep104	A	C	4: 153,981,724	K126N	probably damaging	Het
Dcaf6	T	C	1: 165,339,976	E708G	probably damaging	Het
Dst	A	G	1: 34,161,062	Y107C	probably damaging	Het
E2f3	A	G	13: 29,985,365	S102P	probably benign	Het
Eif3e	A	C	15: 43,265,604	S207A	probably benign	Het
Etl4	A	G	2: 20,713,387	Y313C	probably damaging	Het
Fyttd1	T	C	16: 32,900,695	V121A	probably benign	Het
Gstk1	T	C	6: 42,249,899	S200P	probably damaging	Het
Ifrd1	A	T	12: 40,212,334	F244L	probably null	Het
Ints7	T	C	1: 191,610,365	V491A	probably damaging	Het
Kcnd2	G	T	6: 21,216,509	E71*	probably null	Het
Ltbp3	A	T	19: 5,757,443	Q1123L	probably damaging	Het
Myo5a	A	G	9: 75,174,015	T961A	probably benign	Het
Naa25	T	A	5: 121,434,978	V720E	probably null	Het
Olfr1480	T	C	19: 13,530,435	I298T	probably benign	Het
Olfr599	A	G	7: 103,338,722	I223V	probably damaging	Het
Pcdhb15	C	A	18: 37,475,014	T433N	probably damaging	Het
Peli1	T	C	11: 21,140,560		probably benign	Het
Ptbp1	T	C	10: 79,859,624	V209A	probably damaging	Het
Ranbp2	A	G	10: 58,452,003	Y31C	probably damaging	Het
Smg1	G	A	7: 118,195,113		probably benign	Het
Stat2	A	G	10: 128,283,517	M457V	probably benign	Het
Trpm6	G	T	19: 18,838,017	E1156*	probably null	Het
Usp53	T	A	3: 122,961,415	R130S	possibly damaging	Het
Xrn2	A	G	2: 147,042,872	I626V	probably damaging	Het
Zfp574	G	A	7: 25,080,473	A307T	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
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
Z1177:Vwa5b1	UTSW	4	138612838	missense	probably damaging	1.00

Posted On

2016-08-02