Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01084:Srms'

50454

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 #

IGL01084

Quality Score

Status

Chromosome

Chromosomal Location

180847356-180854964 bp(-) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

A to C at 180848177 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000016511 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000016498] [ENSMUST00000016511]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000016498

SMART Domains

Protein: ENSMUSP00000016498
Gene: ENSMUSG00000027579

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

probably null
Transcript: ENSMUST00000016511

SMART Domains

Protein: ENSMUSP00000016511
Gene: ENSMUSG00000038751

Domain	Start	End	E-Value	Type
SH3	11	71	2e-16	SMART
SH2	76	161	1.01e-28	SMART
TyrKc	191	441	1.12e-131	SMART

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: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aagab	C	A	9: 63,546,901 (GRCm39)	Q284K	probably damaging	Het
Adgrd1	A	T	5: 129,216,656 (GRCm39)	N341I	probably benign	Het
Arhgap40	T	C	2: 158,385,138 (GRCm39)	F457S	probably damaging	Het
Cacng5	C	T	11: 107,772,531 (GRCm39)	V106I	probably benign	Het
Catsper1	G	A	19: 5,387,800 (GRCm39)	V360M	probably damaging	Het
Cdc42bpa	T	A	1: 179,969,839 (GRCm39)		probably benign	Het
Cep250	C	T	2: 155,840,313 (GRCm39)	H2424Y	probably benign	Het
Cln3	T	C	7: 126,174,426 (GRCm39)	E304G	probably damaging	Het
Eml2	T	A	7: 18,924,663 (GRCm39)	C177*	probably null	Het
Epha5	G	A	5: 84,218,946 (GRCm39)	R917*	probably null	Het
Gabra2	A	G	5: 71,163,576 (GRCm39)	F244L	probably damaging	Het
Gars1	C	A	6: 55,032,812 (GRCm39)	D261E	probably benign	Het
Gata3os	A	G	2: 9,887,884 (GRCm39)		probably benign	Het
Keg1	A	G	19: 12,691,976 (GRCm39)	K98E	probably damaging	Het
Kif13a	A	G	13: 46,904,110 (GRCm39)		probably benign	Het
Matn1	A	G	4: 130,679,245 (GRCm39)	K300E	probably benign	Het
Mesp1	A	G	7: 79,442,831 (GRCm39)	S149P	probably benign	Het
Mmp10	T	C	9: 7,505,651 (GRCm39)	V305A	possibly damaging	Het
Muc5b	T	C	7: 141,397,186 (GRCm39)		probably benign	Het
Myof	T	C	19: 37,924,884 (GRCm39)	T1181A	probably damaging	Het
Or1r1	A	T	11: 73,875,353 (GRCm39)	L27Q	probably damaging	Het
Or5d35	T	C	2: 87,855,347 (GRCm39)	S94P	probably benign	Het
Or9i16	G	T	19: 13,864,866 (GRCm39)	T236N	probably damaging	Het
Osbpl11	T	C	16: 33,047,221 (GRCm39)		probably benign	Het
Prune2	T	C	19: 17,095,573 (GRCm39)	V359A	probably benign	Het
Ptch1	T	A	13: 63,691,451 (GRCm39)	E267D	probably damaging	Het
Rbl2	A	G	8: 91,848,941 (GRCm39)	E1049G	probably damaging	Het
Ruvbl2	A	T	7: 45,071,947 (GRCm39)		probably null	Het
Sec23b	A	G	2: 144,406,509 (GRCm39)	I101M	possibly damaging	Het
Svep1	T	A	4: 58,111,419 (GRCm39)	T1067S	possibly damaging	Het
Tedc1	C	T	12: 113,126,808 (GRCm39)	R357*	probably null	Het
Tmem127	T	C	2: 127,099,006 (GRCm39)	V180A	probably damaging	Het
Trpm7	A	G	2: 126,687,992 (GRCm39)		probably null	Het
Trpv3	G	A	11: 73,184,826 (GRCm39)		probably null	Het
Tti1	C	T	2: 157,824,379 (GRCm39)	V1025I	probably damaging	Het
Vmn2r80	A	G	10: 79,030,433 (GRCm39)	Y753C	probably damaging	Het
Vps13d	A	G	4: 144,881,525 (GRCm39)	L1350S	probably benign	Het
Zfp287	G	T	11: 62,604,716 (GRCm39)	Y730*	probably null	Het
Zfp583	A	G	7: 6,320,184 (GRCm39)	F276S	probably damaging	Het
Zfp638	T	C	6: 83,921,780 (GRCm39)	Y636H	probably benign	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
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
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