Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL03165:Sntg1'

411585

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Sntg1

Ensembl Gene

ENSMUSG00000025909

Gene Name

syntrophin, gamma 1

Synonyms

SYN4, G1SYN

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.099) question?

Stock #

IGL03165

Quality Score

Status

Chromosome

Chromosomal Location

8361475-9299878 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 8445104 bp

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Serine at position 402 (C402S)

Ref Sequence

ENSEMBL: ENSMUSP00000141839 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000115488] [ENSMUST00000132064] [ENSMUST00000140295] [ENSMUST00000140302] [ENSMUST00000191683]

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000115484

SMART Domains

Protein: ENSMUSP00000111147
Gene: ENSMUSG00000025909

Domain	Start	End	E-Value	Type
PH	9	117	7.66e-1	SMART
low complexity region	165	174	N/A	INTRINSIC
low complexity region	224	239	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000115488
AA Change: C403S

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000111151
Gene: ENSMUSG00000025909
AA Change: C403S

Domain	Start	End	E-Value	Type
Blast:Tubulin_C	6	54	3e-20	BLAST
PDZ	66	140	3.41e-17	SMART
PH	180	266	8.91e0	SMART
PH	284	392	7.66e-1	SMART
low complexity region	440	449	N/A	INTRINSIC
low complexity region	499	514	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000132064
AA Change: C402S

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000122134
Gene: ENSMUSG00000025909
AA Change: C402S

Domain	Start	End	E-Value	Type
Blast:Tubulin_C	6	54	3e-20	BLAST
PDZ	66	139	1.84e-13	SMART
PH	179	265	8.91e0	SMART
PH	283	391	7.66e-1	SMART
low complexity region	439	448	N/A	INTRINSIC
low complexity region	498	513	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000135046

SMART Domains

Protein: ENSMUSP00000119420
Gene: ENSMUSG00000025909

Domain	Start	End	E-Value	Type
Blast:PH	24	86	3e-40	BLAST
low complexity region	98	107	N/A	INTRINSIC
low complexity region	157	172	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000140295
AA Change: C403S

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000118101
Gene: ENSMUSG00000025909
AA Change: C403S

Domain	Start	End	E-Value	Type
Blast:Tubulin_C	17	65	3e-20	BLAST
PDZ	77	150	1.84e-13	SMART
PH	190	276	8.91e0	SMART
PH	294	402	7.66e-1	SMART
low complexity region	450	459	N/A	INTRINSIC
low complexity region	509	524	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000140302

SMART Domains

Protein: ENSMUSP00000117397
Gene: ENSMUSG00000025909

Domain	Start	End	E-Value	Type
PDZ	66	140	3.41e-17	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000191683
AA Change: C402S

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000141839
Gene: ENSMUSG00000025909
AA Change: C402S

Domain	Start	End	E-Value	Type
Blast:Tubulin_C	6	54	3e-20	BLAST
PDZ	66	139	1.84e-13	SMART
PH	179	265	8.91e0	SMART
PH	283	391	7.66e-1	SMART
low complexity region	439	448	N/A	INTRINSIC
low complexity region	498	513	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.] The protein encoded by this gene is a member of the syntrophin family. Syntrophins are cytoplasmic peripheral membrane proteins that typically contain 2 pleckstrin homology (PH) domains, a PDZ domain that bisects the first PH domain, and a C-terminal domain that mediates dystrophin binding. This family member plays a role in mediating gamma-enolase trafficking to the plasma membrane and in enhancing its neurotrophic activity. Mutations in this gene are associated with idiopathic scoliosis. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Mar 2016]

Allele List at MGI

Other mutations in this stock

Total: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrb3	T	C	1: 25,094,394	I334V	probably benign	Het
Axdnd1	T	A	1: 156,378,389	Y519F	probably benign	Het
C4b	A	G	17: 34,739,955	F500S	probably benign	Het
Cacng2	A	T	15: 77,995,663	I153N	possibly damaging	Het
Ces1d	T	A	8: 93,189,519	H160L	probably benign	Het
Cnnm3	T	G	1: 36,525,232		probably benign	Het
Ctnna3	A	G	10: 64,945,941	T728A	probably damaging	Het
Cyp2g1	G	A	7: 26,809,776	V92M	possibly damaging	Het
Dock2	C	A	11: 34,687,533	V35F	probably damaging	Het
Eif2a	C	A	3: 58,548,628	Y349*	probably null	Het
Erp44	C	T	4: 48,236,872		probably null	Het
Flg2	C	T	3: 93,214,611	H1363Y	unknown	Het
Flnc	G	T	6: 29,449,378	G1425W	probably damaging	Het
Frem3	A	G	8: 80,612,529	N484D	probably benign	Het
Fstl3	A	G	10: 79,779,965	D95G	probably benign	Het
Gldc	A	G	19: 30,098,993	S1018P	possibly damaging	Het
Gstk1	T	G	6: 42,249,434	I159S	probably benign	Het
Herc2	A	G	7: 56,191,912	E3513G	probably damaging	Het
Hpca	A	T	4: 129,118,590	I51N	probably damaging	Het
Hsd17b7	C	T	1: 169,953,080	E320K	probably damaging	Het
Igkv4-74	T	C	6: 69,185,305		probably benign	Het
Kdm7a	C	A	6: 39,170,914		probably benign	Het
Olfr1040	A	C	2: 86,146,068	L222R	possibly damaging	Het
Olfr382	A	T	11: 73,516,884	L105*	probably null	Het
Olfr619	T	C	7: 103,604,011	I119T	probably damaging	Het
Pa2g4	A	T	10: 128,559,060		probably null	Het
Pdlim3	T	A	8: 45,918,998	L360Q	possibly damaging	Het
Pkd1l2	G	A	8: 117,065,745	T436I	probably benign	Het
Polk	T	A	13: 96,516,688	Q68L	probably benign	Het
Ppfia2	T	G	10: 106,767,487	L195R	probably damaging	Het
Ranbp1	A	T	16: 18,247,281		probably benign	Het
Rbm12b1	A	G	4: 12,145,845	R606G	possibly damaging	Het
Ryr1	A	G	7: 29,105,040	V488A	probably benign	Het
Sall2	A	T	14: 52,314,168	D521E	probably damaging	Het
Spg7	T	C	8: 123,080,812		probably null	Het
Stk31	G	A	6: 49,445,264	E750K	probably damaging	Het
Tlr2	A	G	3: 83,837,948	I276T	probably benign	Het
Trav12-2	A	T	14: 53,616,749	H60L	probably benign	Het
Urb1	A	G	16: 90,780,304	L775S	probably damaging	Het
Utp14b	A	G	1: 78,664,520	D45G	probably damaging	Het

Other mutations in Sntg1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00896:Sntg1	APN	1	8595410	critical splice donor site	probably null
IGL01536:Sntg1	APN	1	8583200	splice site	probably null
IGL01558:Sntg1	APN	1	8463388	splice site	probably benign
IGL01649:Sntg1	APN	1	8681969	splice site	probably benign
IGL02230:Sntg1	APN	1	8681971	critical splice donor site	probably null
IGL02252:Sntg1	APN	1	8414228	missense	probably benign	0.00
IGL02804:Sntg1	APN	1	8803958	utr 5 prime	probably benign
IGL03400:Sntg1	APN	1	8463414	missense	probably damaging	0.98
R0013:Sntg1	UTSW	1	8463462	missense	probably damaging	1.00
R0079:Sntg1	UTSW	1	8679062	splice site	probably benign
R0379:Sntg1	UTSW	1	8782824	missense	probably damaging	1.00
R0551:Sntg1	UTSW	1	8554736	missense	possibly damaging	0.73
R1081:Sntg1	UTSW	1	8445119	missense	possibly damaging	0.92
R1645:Sntg1	UTSW	1	8803931	missense	probably benign	0.06
R2089:Sntg1	UTSW	1	8595539	missense	probably benign	0.04
R2091:Sntg1	UTSW	1	8595539	missense	probably benign	0.04
R2091:Sntg1	UTSW	1	8595539	missense	probably benign	0.04
R3951:Sntg1	UTSW	1	8782901	splice site	probably benign
R4152:Sntg1	UTSW	1	8583345	splice site	probably null
R4153:Sntg1	UTSW	1	8583345	splice site	probably null
R4154:Sntg1	UTSW	1	8583345	splice site	probably null
R4847:Sntg1	UTSW	1	8595482	missense	possibly damaging	0.93
R4888:Sntg1	UTSW	1	8363594	missense	probably damaging	0.98
R4947:Sntg1	UTSW	1	8782798	missense	probably damaging	1.00
R5065:Sntg1	UTSW	1	8363439	utr 3 prime	probably benign
R5293:Sntg1	UTSW	1	8595533	missense	probably damaging	1.00
R5550:Sntg1	UTSW	1	8624784	missense	probably damaging	1.00
R5558:Sntg1	UTSW	1	8414271	missense	possibly damaging	0.94
R5687:Sntg1	UTSW	1	8463443	missense	possibly damaging	0.94
R5759:Sntg1	UTSW	1	8414270	missense	probably benign	0.00
R6075:Sntg1	UTSW	1	8679114	makesense	probably null
R6266:Sntg1	UTSW	1	8554729	missense	possibly damaging	0.56
R6313:Sntg1	UTSW	1	8445024	splice site	probably null
R6345:Sntg1	UTSW	1	8583284	missense	possibly damaging	0.85
R6490:Sntg1	UTSW	1	8583284	missense	possibly damaging	0.85
R6571:Sntg1	UTSW	1	8363528	utr 3 prime	probably benign
R6736:Sntg1	UTSW	1	8445050	missense	probably benign	0.16
R7112:Sntg1	UTSW	1	8448065	missense	possibly damaging	0.93
R7266:Sntg1	UTSW	1	8682019	missense	possibly damaging	0.81
R7414:Sntg1	UTSW	1	8448065	missense	probably damaging	1.00
R7583:Sntg1	UTSW	1	8445025	critical splice donor site	probably null
R7892:Sntg1	UTSW	1	8782800	missense	probably damaging	1.00
R7961:Sntg1	UTSW	1	8363570	missense	probably damaging	0.96
R7968:Sntg1	UTSW	1	8465536	nonsense	probably null
R8009:Sntg1	UTSW	1	8363570	missense	probably damaging	0.96
X0026:Sntg1	UTSW	1	8414247	missense	probably benign	0.40

Posted On

2016-08-02