Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02986:Srms'

406710

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Srms

Ensembl Gene

ENSMUSG00000027579

Gene Name

src-related kinase lacking C-terminal regulatory tyrosine and N-terminal myristylation sites

Synonyms

A230069J08Rik, srm

Accession Numbers

Essential gene?

Probably essential (E-score: 0.836) question?

Stock #

IGL02986

Quality Score

Status

Chromosome

Chromosomal Location

180847356-180854964 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 180854290 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Serine at position 92 (R92S)

Ref Sequence

ENSEMBL: ENSMUSP00000016498 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000016498]

AlphaFold

no structure available at present

Predicted Effect

possibly damaging
Transcript: ENSMUST00000016498
AA Change: R92S

PolyPhen 2 Score 0.732 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000016498
Gene: ENSMUSG00000027579
AA Change: R92S

Domain	Start	End	E-Value	Type
SH3	69	126	3.13e-9	SMART
SH2	133	218	5.29e-32	SMART
TyrKc	245	495	2.75e-135	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000117287

Coding Region Coverage

Validation Efficiency

MGI Phenotype

PHENOTYPE: Homozygous mice exhibit no detectable abnormalities. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Agrn	A	G	4: 156,263,311 (GRCm39)	V264A	possibly damaging	Het
Akr1c6	G	T	13: 4,486,414 (GRCm39)	V74L	probably benign	Het
Atp10a	T	G	7: 58,478,469 (GRCm39)	V1504G	probably benign	Het
Ccng1	A	G	11: 40,641,690 (GRCm39)		probably benign	Het
Celsr3	A	T	9: 108,718,454 (GRCm39)		probably null	Het
Coro1b	T	C	19: 4,199,470 (GRCm39)	V43A	possibly damaging	Het
Dab1	A	G	4: 104,336,418 (GRCm39)	T5A	probably benign	Het
Dennd5a	C	T	7: 109,534,731 (GRCm39)	A47T	probably benign	Het
Dgkb	A	G	12: 38,150,399 (GRCm39)	T69A	possibly damaging	Het
Dhx37	G	A	5: 125,496,379 (GRCm39)	P721L	probably damaging	Het
Efr3b	T	C	12: 4,016,495 (GRCm39)	N641D	probably benign	Het
Espnl	A	T	1: 91,272,572 (GRCm39)	Q600L	probably benign	Het
Esyt1	A	G	10: 128,352,626 (GRCm39)	V693A	probably damaging	Het
Fscn2	A	G	11: 120,258,176 (GRCm39)	D366G	possibly damaging	Het
Gcsam	C	A	16: 45,440,366 (GRCm39)	F136L	probably benign	Het
Gm10643	A	T	8: 84,790,887 (GRCm39)		probably benign	Het
Habp2	A	T	19: 56,299,624 (GRCm39)	D174V	probably benign	Het
Hgfac	T	C	5: 35,201,207 (GRCm39)	V210A	probably benign	Het
Hipk3	T	C	2: 104,264,086 (GRCm39)	D804G	probably damaging	Het
L3mbtl1	T	C	2: 162,812,225 (GRCm39)	W757R	probably damaging	Het
Lrrfip2	A	G	9: 110,990,461 (GRCm39)		probably null	Het
Ly75	T	C	2: 60,138,535 (GRCm39)	D1444G	probably damaging	Het
Mars1	A	G	10: 127,133,438 (GRCm39)	V765A	probably benign	Het
Med1	A	G	11: 98,047,086 (GRCm39)		probably benign	Het
Msln	G	A	17: 25,971,907 (GRCm39)		probably benign	Het
Nup188	T	A	2: 30,197,645 (GRCm39)		probably null	Het
Or1p1c	T	G	11: 74,160,928 (GRCm39)	F238V	possibly damaging	Het
Or7e173	A	T	9: 19,939,007 (GRCm39)	F76I	probably benign	Het
Otop2	T	A	11: 115,220,393 (GRCm39)	M411K	probably benign	Het
Picalm	A	G	7: 89,856,793 (GRCm39)	I649M	probably benign	Het
Plekha8	T	C	6: 54,606,851 (GRCm39)	L382P	probably damaging	Het
Pspn	A	G	17: 57,306,853 (GRCm39)		probably benign	Het
Rnf215	A	G	11: 4,089,793 (GRCm39)	T269A	probably damaging	Het
Rps6kc1	A	T	1: 190,566,258 (GRCm39)	L329Q	probably damaging	Het
Ssxb10	C	A	X: 8,201,845 (GRCm39)	S157*	probably null	Het
Tfap2c	T	C	2: 172,399,171 (GRCm39)	S448P	probably damaging	Het
Thsd7b	A	G	1: 129,843,352 (GRCm39)	N855D	probably benign	Het
Timeless	A	C	10: 128,085,629 (GRCm39)	D887A	possibly damaging	Het
Tyms	T	C	5: 30,266,997 (GRCm39)	Y169C	probably damaging	Het
Unc45b	T	A	11: 82,808,005 (GRCm39)	C207S	probably damaging	Het
Utp20	A	G	10: 88,611,147 (GRCm39)	F1390S	probably damaging	Het
Vmn2r53	A	T	7: 12,315,393 (GRCm39)		probably benign	Het
Zfp369	A	T	13: 65,428,095 (GRCm39)	D18V	probably damaging	Het

Other mutations in Srms

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00914:Srms	APN	2	180,849,565 (GRCm39)	missense	probably benign	0.02
IGL01084:Srms	APN	2	180,848,177 (GRCm39)	splice site	probably null
IGL01086:Srms	APN	2	180,854,216 (GRCm39)	missense	probably damaging	1.00
IGL02749:Srms	APN	2	180,851,302 (GRCm39)	missense	possibly damaging	0.58
IGL02808:Srms	APN	2	180,849,501 (GRCm39)	missense	probably damaging	1.00
IGL03180:Srms	APN	2	180,854,573 (GRCm39)	utr 5 prime	probably benign
R0226:Srms	UTSW	2	180,854,175 (GRCm39)	missense	probably benign	0.00
R0685:Srms	UTSW	2	180,854,426 (GRCm39)	missense	probably benign	0.00
R2171:Srms	UTSW	2	180,850,573 (GRCm39)	nonsense	probably null
R5808:Srms	UTSW	2	180,850,548 (GRCm39)	missense	probably benign	0.02
R6112:Srms	UTSW	2	180,849,780 (GRCm39)	nonsense	probably null
R6277:Srms	UTSW	2	180,848,038 (GRCm39)	missense	possibly damaging	0.58
R6572:Srms	UTSW	2	180,854,450 (GRCm39)	missense	probably benign
R6737:Srms	UTSW	2	180,851,253 (GRCm39)	missense	probably damaging	1.00
R8069:Srms	UTSW	2	180,848,751 (GRCm39)	missense	probably damaging	1.00
R8264:Srms	UTSW	2	180,854,343 (GRCm39)	missense	probably benign	0.10
R8700:Srms	UTSW	2	180,848,521 (GRCm39)	missense	probably damaging	1.00
R9110:Srms	UTSW	2	180,848,050 (GRCm39)	missense

Posted On

2016-08-02