Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL00914:Sntg2'

28717

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Sntg2

Ensembl Gene

ENSMUSG00000020672

Gene Name

syntrophin, gamma 2

Synonyms

2210008K22Rik

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.080) question?

Stock #

IGL00914

Quality Score

Status

Chromosome

Chromosomal Location

30174482-30373375 bp(-) (GRCm38)

Type of Mutation

intron

DNA Base Change (assembly)

A to G at 30257957 bp

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000123332 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000021004] [ENSMUST00000133324] [ENSMUST00000142046] [ENSMUST00000149710]

Predicted Effect

probably benign
Transcript: ENSMUST00000021004

SMART Domains

Protein: ENSMUSP00000021004
Gene: ENSMUSG00000020672

Domain	Start	End	E-Value	Type
PDZ	82	156	1.83e-17	SMART
low complexity region	159	183	N/A	INTRINSIC
PH	297	423	7.66e-1	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000133324

SMART Domains

Protein: ENSMUSP00000114245
Gene: ENSMUSG00000020672

Domain	Start	End	E-Value	Type
Blast:PH	13	70	9e-24	BLAST

Predicted Effect

probably benign
Transcript: ENSMUST00000142046

SMART Domains

Protein: ENSMUSP00000115942
Gene: ENSMUSG00000020672

Domain	Start	End	E-Value	Type
Blast:PH	13	89	1e-23	BLAST

Predicted Effect

probably benign
Transcript: ENSMUST00000149710

SMART Domains

Protein: ENSMUSP00000123332
Gene: ENSMUSG00000020672

Domain	Start	End	E-Value	Type
PDZ	82	156	1.83e-17	SMART
low complexity region	159	183	N/A	INTRINSIC

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein belonging to the syntrophin family. Syntrophins are cytoplasmic peripheral membrane proteins that bind to components of mechanosenstive sodium channels and the extreme carboxy-terminal domain of dystrophin and dystrophin-related proteins. The PDZ domain of this protein product interacts with a protein component of a mechanosensitive sodium channel that affects channel gating. Absence or reduction of this protein product has been associated with Duchenne muscular dystrophy. There is evidence of alternative splicing yet the full-length nature of these variants has not been described. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 17 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ahi1	T	G	10: 20,984,299		probably null	Het
Aipl1	T	C	11: 72,031,547	D112G	probably damaging	Het
Casz1	G	A	4: 148,929,371	E131K	probably damaging	Het
Chrna4	A	G	2: 181,029,031	Y311H	probably damaging	Het
Cyp2d34	G	T	15: 82,620,714	N48K	probably damaging	Het
Dnajc13	T	A	9: 104,212,882	K696I	possibly damaging	Het
Fbxo30	T	C	10: 11,290,539	V335A	probably benign	Het
Itga5	A	G	15: 103,350,372		probably null	Het
Morc2a	G	A	11: 3,668,844		probably null	Het
Nek8	T	C	11: 78,173,075	I35V	possibly damaging	Het
Olfr1453	A	G	19: 13,027,591	V246A	probably damaging	Het
Olfr893	A	G	9: 38,209,799		probably null	Het
Pcyt2	A	G	11: 120,614,325		probably benign	Het
Sec23b	T	G	2: 144,566,864	S156R	probably damaging	Het
Shc3	T	A	13: 51,480,227		probably benign	Het
Srms	T	A	2: 181,207,772	M280L	probably benign	Het
Wdr60	A	G	12: 116,232,603	V508A	probably damaging	Het

Other mutations in Sntg2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00231:Sntg2	APN	12	30276721	missense	probably benign	0.08
IGL00950:Sntg2	APN	12	30312681	splice site	probably benign
IGL01106:Sntg2	APN	12	30257988	nonsense	probably null
IGL01732:Sntg2	APN	12	30312649	missense	probably damaging	0.99
IGL01987:Sntg2	APN	12	30312570	missense	probably damaging	1.00
IGL02138:Sntg2	APN	12	30307231	critical splice acceptor site	probably null
IGL02325:Sntg2	APN	12	30195543	missense	probably benign	0.08
IGL02619:Sntg2	APN	12	30267026	splice site	probably null
IGL02797:Sntg2	APN	12	30226892	missense	possibly damaging	0.93
IGL03176:Sntg2	APN	12	30267023	splice site	probably benign
PIT4445001:Sntg2	UTSW	12	30312572	missense	probably damaging	1.00
R0126:Sntg2	UTSW	12	30201261	splice site	probably benign
R0309:Sntg2	UTSW	12	30226773	missense	probably benign	0.03
R0614:Sntg2	UTSW	12	30257978	missense	possibly damaging	0.87
R1267:Sntg2	UTSW	12	30245128	missense	probably benign	0.42
R1546:Sntg2	UTSW	12	30288296	missense	probably damaging	1.00
R1696:Sntg2	UTSW	12	30267063	missense	probably damaging	1.00
R1708:Sntg2	UTSW	12	30373180	missense	possibly damaging	0.81
R1867:Sntg2	UTSW	12	30236651	missense	probably benign
R2256:Sntg2	UTSW	12	30236688	nonsense	probably null
R2895:Sntg2	UTSW	12	30226846	missense	probably benign	0.00
R3401:Sntg2	UTSW	12	30288172	splice site	probably benign
R3522:Sntg2	UTSW	12	30312567	missense	probably damaging	0.99
R4771:Sntg2	UTSW	12	30276659	splice site	probably null
R4814:Sntg2	UTSW	12	30373268	unclassified	probably benign
R5554:Sntg2	UTSW	12	30258041	missense	probably benign	0.08
R6056:Sntg2	UTSW	12	30312561	missense	probably benign	0.06
R6328:Sntg2	UTSW	12	30258014	missense	probably damaging	1.00
R6373:Sntg2	UTSW	12	30258041	missense	probably benign	0.08
R7314:Sntg2	UTSW	12	30267108	missense	probably benign	0.01
R7494:Sntg2	UTSW	12	30229634	missense	possibly damaging	0.89
R7571:Sntg2	UTSW	12	30175202	missense	probably damaging	0.99

Posted On

2013-04-17