Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02797:Sntg2'

360002

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Sntg2

Ensembl Gene

ENSMUSG00000020672

Gene Name

syntrophin, gamma 2

Synonyms

2210008K22Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.084) question?

Stock #

IGL02797

Quality Score

Status

Chromosome

Chromosomal Location

30224481-30423374 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 30276891 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Serine at position 387 (Y387S)

Ref Sequence

ENSEMBL: ENSMUSP00000021004 (fasta)

Gene Model

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

AlphaFold

Q925E0

Predicted Effect

possibly damaging
Transcript: ENSMUST00000021004
AA Change: Y387S

PolyPhen 2 Score 0.931 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000021004
Gene: ENSMUSG00000020672
AA Change: Y387S

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: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc5	A	G	16: 20,187,214 (GRCm39)	M924T	probably benign	Het
Afg2a	A	G	3: 37,512,465 (GRCm39)		probably benign	Het
B3gat2	A	G	1: 23,854,360 (GRCm39)	Y218C	probably damaging	Het
Bcs1l	T	C	1: 74,629,620 (GRCm39)		probably null	Het
Cd109	T	A	9: 78,568,995 (GRCm39)	I358N	probably damaging	Het
Cd276	T	C	9: 58,444,719 (GRCm39)	D84G	possibly damaging	Het
Chsy1	T	C	7: 65,821,412 (GRCm39)	F549S	probably damaging	Het
Clca3a2	T	C	3: 144,787,024 (GRCm39)	N549S	probably benign	Het
Cma1	A	G	14: 56,181,271 (GRCm39)	S32P	possibly damaging	Het
Col23a1	G	A	11: 51,452,743 (GRCm39)		probably null	Het
Ctps1	A	T	4: 120,420,021 (GRCm39)	I131K	probably benign	Het
Cyp2w1	T	C	5: 139,342,628 (GRCm39)	L441P	probably damaging	Het
Dnajc21	A	G	15: 10,461,441 (GRCm39)	Y170H	probably damaging	Het
Eif3a	A	T	19: 60,761,164 (GRCm39)	L648Q	probably damaging	Het
Eif3l	T	A	15: 78,959,477 (GRCm39)	D6E	probably benign	Het
Fam228a	A	T	12: 4,781,484 (GRCm39)	L125Q	probably damaging	Het
Foxa2	A	G	2: 147,886,045 (GRCm39)	C263R	possibly damaging	Het
Gm17455	A	G	10: 60,239,107 (GRCm39)	E124G	possibly damaging	Het
Gpc6	T	G	14: 117,163,394 (GRCm39)	L16R	probably damaging	Het
Hdac9	A	G	12: 34,443,273 (GRCm39)		probably benign	Het
Herc3	A	G	6: 58,845,679 (GRCm39)	N400S	probably benign	Het
Herc4	G	A	10: 63,152,586 (GRCm39)		probably null	Het
Il12b	A	G	11: 44,301,180 (GRCm39)		probably null	Het
Lama4	A	G	10: 38,932,920 (GRCm39)	R599G	probably null	Het
Lrp1b	T	A	2: 41,561,069 (GRCm39)	E286V		Het
Mink1	C	T	11: 70,501,176 (GRCm39)	P784S	probably damaging	Het
Musk	T	C	4: 58,366,921 (GRCm39)	F513S	probably benign	Het
Nfasc	T	A	1: 132,538,186 (GRCm39)	D474V	probably damaging	Het
Nhsl3	C	T	4: 129,117,104 (GRCm39)	R565H	probably damaging	Het
Nos2	T	G	11: 78,831,170 (GRCm39)	F420V	probably damaging	Het
Or52ab2	A	T	7: 102,970,058 (GRCm39)	I147L	probably benign	Het
Pcdhb14	A	G	18: 37,582,904 (GRCm39)	Y670C	probably damaging	Het
Polr1b	A	G	2: 128,944,899 (GRCm39)	E65G	probably damaging	Het
Ppp1r10	T	G	17: 36,238,904 (GRCm39)		probably null	Het
Prag1	C	T	8: 36,606,655 (GRCm39)	R799C	probably damaging	Het
Prb1c	T	A	6: 132,340,008 (GRCm39)		probably null	Het
Ptch1	T	C	13: 63,681,421 (GRCm39)	N485S	probably benign	Het
Rgsl1	T	C	1: 153,683,454 (GRCm39)	T19A	probably damaging	Het
Sgpl1	A	C	10: 60,937,507 (GRCm39)	S507A	probably benign	Het
Sgpp2	A	G	1: 78,393,819 (GRCm39)	D274G	probably benign	Het
Skap1	A	G	11: 96,603,843 (GRCm39)	D211G	possibly damaging	Het
Smc3	A	G	19: 53,627,189 (GRCm39)	T830A	probably benign	Het
Smpd2	G	A	10: 41,364,074 (GRCm39)	T215I	possibly damaging	Het
Sorl1	T	G	9: 41,948,355 (GRCm39)	D810A	probably damaging	Het
Spop	T	A	11: 95,372,909 (GRCm39)	I217N	probably damaging	Het
Stac2	T	C	11: 97,934,345 (GRCm39)	R120G	possibly damaging	Het
Stau1	A	T	2: 166,791,266 (GRCm39)	*496R	probably null	Het
Tmeff2	C	T	1: 50,967,206 (GRCm39)	R34C	probably damaging	Het
Treml2	C	T	17: 48,609,739 (GRCm39)	A57V	possibly damaging	Het
Vmn2r15	T	C	5: 109,445,250 (GRCm39)	D58G	probably benign	Het
Vmn2r7	T	C	3: 64,598,666 (GRCm39)	I721M	possibly damaging	Het
Vmn2r70	C	A	7: 85,208,295 (GRCm39)	M727I	probably benign	Het
Vwa8	T	A	14: 79,162,702 (GRCm39)	C161S	probably benign	Het

Other mutations in Sntg2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00231:Sntg2	APN	12	30,326,720 (GRCm39)	missense	probably benign	0.08
IGL00914:Sntg2	APN	12	30,307,956 (GRCm39)	intron	probably benign
IGL00950:Sntg2	APN	12	30,362,680 (GRCm39)	splice site	probably benign
IGL01106:Sntg2	APN	12	30,307,987 (GRCm39)	nonsense	probably null
IGL01732:Sntg2	APN	12	30,362,648 (GRCm39)	missense	probably damaging	0.99
IGL01987:Sntg2	APN	12	30,362,569 (GRCm39)	missense	probably damaging	1.00
IGL02138:Sntg2	APN	12	30,357,230 (GRCm39)	critical splice acceptor site	probably null
IGL02325:Sntg2	APN	12	30,245,542 (GRCm39)	missense	probably benign	0.08
IGL02619:Sntg2	APN	12	30,317,025 (GRCm39)	splice site	probably null
IGL03176:Sntg2	APN	12	30,317,022 (GRCm39)	splice site	probably benign
PIT4445001:Sntg2	UTSW	12	30,362,571 (GRCm39)	missense	probably damaging	1.00
R0126:Sntg2	UTSW	12	30,251,260 (GRCm39)	splice site	probably benign
R0309:Sntg2	UTSW	12	30,276,772 (GRCm39)	missense	probably benign	0.03
R0614:Sntg2	UTSW	12	30,307,977 (GRCm39)	missense	possibly damaging	0.87
R1267:Sntg2	UTSW	12	30,295,127 (GRCm39)	missense	probably benign	0.42
R1546:Sntg2	UTSW	12	30,338,295 (GRCm39)	missense	probably damaging	1.00
R1696:Sntg2	UTSW	12	30,317,062 (GRCm39)	missense	probably damaging	1.00
R1708:Sntg2	UTSW	12	30,423,179 (GRCm39)	missense	possibly damaging	0.81
R1867:Sntg2	UTSW	12	30,286,650 (GRCm39)	missense	probably benign
R2256:Sntg2	UTSW	12	30,286,687 (GRCm39)	nonsense	probably null
R2895:Sntg2	UTSW	12	30,276,845 (GRCm39)	missense	probably benign	0.00
R3401:Sntg2	UTSW	12	30,338,171 (GRCm39)	splice site	probably benign
R3522:Sntg2	UTSW	12	30,362,566 (GRCm39)	missense	probably damaging	0.99
R4771:Sntg2	UTSW	12	30,326,658 (GRCm39)	splice site	probably null
R4814:Sntg2	UTSW	12	30,423,267 (GRCm39)	unclassified	probably benign
R5554:Sntg2	UTSW	12	30,308,040 (GRCm39)	missense	probably benign	0.08
R6056:Sntg2	UTSW	12	30,362,560 (GRCm39)	missense	probably benign	0.06
R6328:Sntg2	UTSW	12	30,308,013 (GRCm39)	missense	probably damaging	1.00
R6373:Sntg2	UTSW	12	30,308,040 (GRCm39)	missense	probably benign	0.08
R7314:Sntg2	UTSW	12	30,317,107 (GRCm39)	missense	probably benign	0.01
R7494:Sntg2	UTSW	12	30,279,633 (GRCm39)	missense	possibly damaging	0.89
R7571:Sntg2	UTSW	12	30,225,201 (GRCm39)	missense	probably damaging	0.99
R7749:Sntg2	UTSW	12	30,276,910 (GRCm39)	missense	probably benign	0.01
R9375:Sntg2	UTSW	12	30,293,343 (GRCm39)	critical splice acceptor site	probably null
R9616:Sntg2	UTSW	12	30,326,732 (GRCm39)	missense	probably benign	0.30

Posted On

2015-12-18