Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01086:Srms'

50462

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: 0.859) question?

Stock #

IGL01086

Quality Score

Status

Chromosome

Chromosomal Location

180847356-180854964 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 180854216 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 117 (V117A)

Ref Sequence

ENSEMBL: ENSMUSP00000016498 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000016498
AA Change: V117A

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000016498
Gene: ENSMUSG00000027579
AA Change: V117A

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: 36 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700016H13Rik	T	A	5: 103,796,729 (GRCm39)	R104S	probably damaging	Het
Aen	G	A	7: 78,557,050 (GRCm39)	M299I	probably damaging	Het
Aim2	A	G	1: 173,282,999 (GRCm39)	Y27C	probably damaging	Het
Apol7b	T	C	15: 77,308,114 (GRCm39)	E127G	probably damaging	Het
Atp10a	T	C	7: 58,474,066 (GRCm39)	F1118L	probably damaging	Het
Cacna1e	T	C	1: 154,347,347 (GRCm39)	D940G	probably benign	Het
Cfap206	C	T	4: 34,721,562 (GRCm39)	S162N	probably damaging	Het
Clip4	G	A	17: 72,131,789 (GRCm39)	V376I	probably benign	Het
Cmklr2	T	C	1: 63,222,650 (GRCm39)	E195G	probably benign	Het
Coro6	C	A	11: 77,357,374 (GRCm39)	C194*	probably null	Het
Crebbp	T	C	16: 3,997,416 (GRCm39)	M223V	probably benign	Het
Dkk4	T	A	8: 23,116,857 (GRCm39)	C157S	probably damaging	Het
Dnah14	T	C	1: 181,579,611 (GRCm39)	L3048S	probably benign	Het
Dscaml1	T	C	9: 45,613,960 (GRCm39)		probably benign	Het
Gria2	T	C	3: 80,599,688 (GRCm39)	Y732C	probably damaging	Het
Igkv4-59	T	C	6: 69,415,707 (GRCm39)	I7V	probably benign	Het
Lamc3	T	C	2: 31,788,488 (GRCm39)	F216S	probably damaging	Het
Lcn6	T	C	2: 25,570,792 (GRCm39)	F61L	probably benign	Het
Nup205	T	A	6: 35,185,871 (GRCm39)		probably benign	Het
Or5w18	T	A	2: 87,633,544 (GRCm39)	Y266*	probably null	Het
Otof	C	T	5: 30,533,617 (GRCm39)		probably null	Het
Pik3c2b	T	C	1: 133,019,356 (GRCm39)	C1035R	probably damaging	Het
Pla1a	T	C	16: 38,227,984 (GRCm39)	N298D	probably benign	Het
Poteg	T	A	8: 27,963,648 (GRCm39)		probably benign	Het
Pwp1	T	C	10: 85,715,757 (GRCm39)		probably null	Het
Scel	A	G	14: 103,849,827 (GRCm39)	I631V	probably benign	Het
Scn3a	T	A	2: 65,300,503 (GRCm39)	M1288L	probably benign	Het
Serpina11	T	A	12: 103,952,329 (GRCm39)	D147V	probably damaging	Het
Shroom3	T	A	5: 93,096,311 (GRCm39)	C1266S	probably benign	Het
Slc12a7	A	G	13: 73,962,962 (GRCm39)	Y1054C	probably damaging	Het
Tmem161b	T	C	13: 84,370,541 (GRCm39)		probably benign	Het
Tmem94	A	T	11: 115,681,110 (GRCm39)	T158S	probably benign	Het
Tomm40l	T	C	1: 171,047,878 (GRCm39)		probably null	Het
Traf6	A	G	2: 101,515,128 (GRCm39)	I95V	probably benign	Het
Ttc13	A	G	8: 125,402,085 (GRCm39)	I686T	probably damaging	Het
Zmat2	C	T	18: 36,929,163 (GRCm39)	H104Y	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
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
IGL02986:Srms	APN	2	180,854,290 (GRCm39)	missense	possibly damaging	0.73
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

2013-06-21