Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01781:Vstm5'

153915

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Vstm5

Ensembl Gene

ENSMUSG00000031937

Gene Name

V-set and transmembrane domain containing 5

Synonyms

2200002K05Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.069) question?

Stock #

IGL01781

Quality Score

Status

Chromosome

Chromosomal Location

15150341-15170712 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 15168968 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Arginine at position 146 (H146R)

Ref Sequence

ENSEMBL: ENSMUSP00000034413 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000034411] [ENSMUST00000034413] [ENSMUST00000213788]

AlphaFold

Q9D806

Predicted Effect

probably benign
Transcript: ENSMUST00000034411

SMART Domains

Protein: ENSMUSP00000034411
Gene: ENSMUSG00000031935

Domain	Start	End	E-Value	Type
low complexity region	51	82	N/A	INTRINSIC
Pfam:Med17	123	452	8.5e-13	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000034413
AA Change: H146R

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000034413
Gene: ENSMUSG00000031937
AA Change: H146R

Domain	Start	End	E-Value	Type
signal peptide	1	27	N/A	INTRINSIC
IG	39	138	2e-3	SMART
transmembrane domain	147	169	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000213788

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
Abca13	T	A	11: 9,349,280 (GRCm39)	I3618N	probably damaging	Het
Acss1	A	G	2: 150,479,792 (GRCm39)	L305P	probably damaging	Het
Alox12e	A	T	11: 70,212,282 (GRCm39)	L132Q	probably damaging	Het
Atp6v0a4	T	C	6: 38,051,095 (GRCm39)	N428D	possibly damaging	Het
Ccdc80	C	T	16: 44,946,493 (GRCm39)	H811Y	probably damaging	Het
Cgn	T	C	3: 94,680,515 (GRCm39)	M596V	probably benign	Het
Cpn1	T	A	19: 43,954,657 (GRCm39)	E323V	possibly damaging	Het
Cul9	A	G	17: 46,850,230 (GRCm39)	S447P	probably benign	Het
Cyp2f2	A	T	7: 26,829,846 (GRCm39)	Y182F	probably benign	Het
Dnajc13	T	C	9: 104,039,558 (GRCm39)	M2104V	possibly damaging	Het
Eri3	T	C	4: 117,421,874 (GRCm39)	F51L	probably benign	Het
Fgd5	A	G	6: 91,965,698 (GRCm39)	S486G	possibly damaging	Het
Fhdc1	G	A	3: 84,352,042 (GRCm39)	A1061V	possibly damaging	Het
Ifna4	T	C	4: 88,760,389 (GRCm39)	S98P	probably damaging	Het
Impg2	A	G	16: 56,072,588 (GRCm39)	K340R	probably benign	Het
Man2b2	T	C	5: 36,971,089 (GRCm39)	N759S	possibly damaging	Het
Mfsd1	A	G	3: 67,495,244 (GRCm39)		probably benign	Het
Or2d36	T	A	7: 106,746,903 (GRCm39)	C127S	probably damaging	Het
Pdcd6ip	G	T	9: 113,520,566 (GRCm39)	N139K	probably damaging	Het
Peak1	A	T	9: 56,167,349 (GRCm39)	I193N	possibly damaging	Het
Pip4p2	T	C	4: 14,893,566 (GRCm39)	L143S	probably damaging	Het
Pramel28	C	A	4: 143,692,299 (GRCm39)	C234F	probably benign	Het
Psg27	T	A	7: 18,298,989 (GRCm39)	T111S	probably damaging	Het
Ptprs	G	A	17: 56,742,676 (GRCm39)	L489F	probably damaging	Het
Rpgrip1l	A	G	8: 91,996,846 (GRCm39)	V76A	probably benign	Het
Scd1	A	T	19: 44,388,787 (GRCm39)	M221K	possibly damaging	Het
Slc38a7	A	G	8: 96,570,386 (GRCm39)		probably null	Het
Spon2	T	C	5: 33,372,904 (GRCm39)	D266G	probably benign	Het
Spry4	C	T	18: 38,723,478 (GRCm39)	G95D	probably damaging	Het
Supt20	A	G	3: 54,602,626 (GRCm39)	M1V	probably null	Het
Trappc11	A	C	8: 47,967,163 (GRCm39)	F404V	possibly damaging	Het
Vmn1r178	C	A	7: 23,593,434 (GRCm39)	Q161K	probably damaging	Het
Vmn2r25	T	C	6: 123,816,324 (GRCm39)	E419G	possibly damaging	Het

Other mutations in Vstm5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01597:Vstm5	APN	9	15,168,675 (GRCm39)	missense	probably damaging	1.00
IGL02940:Vstm5	APN	9	15,168,962 (GRCm39)	missense	probably damaging	1.00
R1155:Vstm5	UTSW	9	15,168,849 (GRCm39)	missense	probably damaging	1.00
R1721:Vstm5	UTSW	9	15,168,663 (GRCm39)	missense	probably benign	0.13
R2368:Vstm5	UTSW	9	15,169,027 (GRCm39)	missense	probably benign	0.00
R3160:Vstm5	UTSW	9	15,168,594 (GRCm39)	missense	probably benign	0.02
R3161:Vstm5	UTSW	9	15,168,594 (GRCm39)	missense	probably benign	0.02
R3162:Vstm5	UTSW	9	15,168,594 (GRCm39)	missense	probably benign	0.02
R4612:Vstm5	UTSW	9	15,168,789 (GRCm39)	missense	probably benign	0.22
R4692:Vstm5	UTSW	9	15,168,718 (GRCm39)	missense	probably damaging	0.99
R4950:Vstm5	UTSW	9	15,169,090 (GRCm39)	splice site	probably null
R5088:Vstm5	UTSW	9	15,168,601 (GRCm39)	missense	possibly damaging	0.87
R6351:Vstm5	UTSW	9	15,168,829 (GRCm39)	missense	probably damaging	1.00
R7063:Vstm5	UTSW	9	15,150,549 (GRCm39)	start gained	probably benign
R7720:Vstm5	UTSW	9	15,150,652 (GRCm39)	missense	probably benign	0.08
R9300:Vstm5	UTSW	9	15,168,585 (GRCm39)	missense	probably damaging	1.00
R9491:Vstm5	UTSW	9	15,168,586 (GRCm39)	missense	probably damaging	0.99

Posted On

2014-02-04