Mutagenetix > Incidental Mutation

Incidental Mutation 'R6313:Sntg1'

529311

Institutional Source

Beutler Lab

Gene Symbol

Sntg1

Ensembl Gene

ENSMUSG00000025909

Gene Name

syntrophin, gamma 1

Synonyms

SYN4, G1SYN

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.113) question?

Stock #

R6313 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

8361475-9299878 bp(-) (GRCm38)

Type of Mutation

splice site (3 bp from exon)

DNA Base Change (assembly)

T to C at 8445024 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000141839 (fasta)

Gene Model

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

AlphaFold

no structure available at present

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 null
Transcript: ENSMUST00000115488

SMART Domains

Protein: ENSMUSP00000111151
Gene: ENSMUSG00000025909

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 null
Transcript: ENSMUST00000132064

SMART Domains

Protein: ENSMUSP00000122134
Gene: ENSMUSG00000025909

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 null
Transcript: ENSMUST00000140295

SMART Domains

Protein: ENSMUSP00000118101
Gene: ENSMUSG00000025909

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 null
Transcript: ENSMUST00000191683

SMART Domains

Protein: ENSMUSP00000141839
Gene: ENSMUSG00000025909

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

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.4%

Validation Efficiency

100% (70/70)

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: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1810046K07Rik	C	T	9: 51,290,181	D192N	probably damaging	Het
4932415D10Rik	T	C	10: 82,293,636	N1180S	probably benign	Het
Abca16	T	C	7: 120,527,121	F1167L	probably damaging	Het
Abraxas2	G	A	7: 132,874,965	A145T	probably damaging	Het
Acaca	C	T	11: 84,292,929	T32I	probably benign	Het
Adam6a	A	T	12: 113,545,050	N348Y	possibly damaging	Het
Ankdd1a	C	T	9: 65,508,061	A227T	possibly damaging	Het
Arhgef38	T	C	3: 133,234,708	D39G	possibly damaging	Het
Arid5b	T	C	10: 68,097,582	D587G	possibly damaging	Het
Brwd1	A	G	16: 96,007,941	V1963A	probably benign	Het
Ccdc136	T	A	6: 29,410,205	L34Q	probably damaging	Het
Cdh2	T	C	18: 16,774,522	Q53R	probably benign	Het
Celsr2	G	A	3: 108,401,214	S1799L	probably damaging	Het
Cenpe	A	G	3: 135,230,175	E457G	probably benign	Het
Cmtm1	A	T	8: 104,305,163	M283K	possibly damaging	Het
Dcdc5	T	C	2: 106,368,171		noncoding transcript	Het
Decr1	T	A	4: 15,924,261	M220L	probably benign	Het
Dgkg	T	G	16: 22,519,561	D592A	probably damaging	Het
Dkkl1	T	C	7: 45,211,438	Q39R	probably benign	Het
Dyrk1a	T	A	16: 94,659,514	C10S	possibly damaging	Het
Efcab2	A	T	1: 178,481,371	E146D	probably benign	Het
Efhc1	T	C	1: 20,979,428	V504A	possibly damaging	Het
Ermard	T	G	17: 15,053,205		probably null	Het
Espl1	T	C	15: 102,315,812	V1266A	probably benign	Het
Fbxw22	A	C	9: 109,403,397	V40G	probably damaging	Het
Gm3460	A	T	14: 6,619,410	I194N	possibly damaging	Het
Gnai2	C	T	9: 107,620,097	V33M	possibly damaging	Het
H2-DMb1	T	C	17: 34,157,532		probably null	Het
Hc	T	C	2: 34,989,839		probably null	Het
Iars	T	C	13: 49,708,445	S491P	probably damaging	Het
Knl1	T	A	2: 119,069,318	L500H	probably damaging	Het
Lamb1	A	T	12: 31,269,147	T102S	probably damaging	Het
Lrrc7	A	G	3: 158,160,736	S1123P	probably damaging	Het
Mettl5	C	A	2: 69,871,727		probably null	Het
Mmp11	A	G	10: 75,923,984	*4R	probably null	Het
Myom1	A	T	17: 71,082,488	D911V	probably benign	Het
Nid1	A	G	13: 13,463,782	T96A	probably benign	Het
Nlrp4e	G	T	7: 23,353,172	V839L	probably benign	Het
Notch3	A	T	17: 32,151,154		probably null	Het
Olfr1082	T	C	2: 86,594,067	T254A	possibly damaging	Het
Pcdh8	T	C	14: 79,767,651	H978R	probably benign	Het
Pde8b	A	T	13: 95,042,000	C537*	probably null	Het
Polr1b	T	C	2: 129,125,446	F920L	probably damaging	Het
Polr2f	A	G	15: 79,151,373	T87A	probably damaging	Het
Pon2	T	A	6: 5,272,421	H133L	probably damaging	Het
Ptk2b	T	A	14: 66,178,831	E205V	probably damaging	Het
Rb1cc1	T	A	1: 6,244,133	M343K	probably benign	Het
Rlf	G	A	4: 121,148,610	R1058W	probably damaging	Het
S100z	T	A	13: 95,478,574	K28*	probably null	Het
Scarf1	T	A	11: 75,520,315	N273K	probably benign	Het
Setd2	A	G	9: 110,556,366	I136M	unknown	Het
Sfrp2	A	G	3: 83,766,984	D148G	probably benign	Het
Slc24a4	A	G	12: 102,254,510	E400G	probably benign	Het
Slc2a9	T	G	5: 38,453,121	I112L	probably benign	Het
Smc5	A	T	19: 23,208,948	Y972*	probably null	Het
Stag1	A	G	9: 100,757,733	D114G	probably damaging	Het
Suclg1	T	C	6: 73,256,209	S46P	probably damaging	Het
Synj1	C	T	16: 90,946,815	A1186T	probably benign	Het
Tas2r124	A	G	6: 132,755,447	T240A	probably benign	Het
Tax1bp1	T	C	6: 52,744,356		probably null	Het
Tchh	C	A	3: 93,447,851	Q1533K	unknown	Het
Tmprss15	T	C	16: 78,962,170	T887A	probably benign	Het
Ttn	T	C	2: 76,706,593	I34963V	probably benign	Het
Unc79	G	A	12: 103,112,619	G1485D	probably damaging	Het
Usp9y	G	T	Y: 1,385,355	H633N	probably benign	Homo
Vmn2r99	A	T	17: 19,382,605	N541Y	probably damaging	Het
Zbtb11	T	A	16: 55,990,491	N337K	probably benign	Het
Zfp260	T	A	7: 30,104,842	C56S	possibly damaging	Het
Zfp457	C	T	13: 67,292,682	E610K	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
IGL03165:Sntg1	APN	1	8445104	missense	probably damaging	1.00
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
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
R8888:Sntg1	UTSW	1	8677850	critical splice acceptor site	probably null
R8895:Sntg1	UTSW	1	8677850	critical splice acceptor site	probably null
R8986:Sntg1	UTSW	1	8414267	missense	possibly damaging	0.92
R9184:Sntg1	UTSW	1	8677832	missense	probably damaging	1.00
R9435:Sntg1	UTSW	1	8363590	missense	probably damaging	0.98
R9463:Sntg1	UTSW	1	8554750	missense	probably damaging	0.98
R9603:Sntg1	UTSW	1	8677974	missense	probably damaging	1.00
R9653:Sntg1	UTSW	1	8363525	missense	unknown
X0026:Sntg1	UTSW	1	8414247	missense	probably benign	0.40

Predicted Primers

PCR Primer
(F):5'- CAGAGTGGCATGAAATTACTTTGC -3'
(R):5'- GACGACCAGATATAACAATGTGTTAGG -3'

Sequencing Primer
(F):5'- GCTATAATTGCTTGCATGAACATTG -3'
(R):5'- GTGGATCAAACCTAGGGTCTTACTC -3'

Posted On

2018-07-27