Mutagenetix > Incidental Mutation

Incidental Mutation 'R0013:Sntg1'

32601

Institutional Source

Beutler Lab

Gene Symbol

Sntg1

Ensembl Gene

ENSMUSG00000025909

Gene Name

syntrophin, gamma 1

Synonyms

SYN4, G1SYN

MMRRC Submission

038308-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.111) question?

Stock #

R0013 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

8361475-9299878 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 8463462 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 323 (T323A)

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 damaging
Transcript: ENSMUST00000115488
AA Change: T324A

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000111151
Gene: ENSMUSG00000025909
AA Change: T324A

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: T323A

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000122134
Gene: ENSMUSG00000025909
AA Change: T323A

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: T324A

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000118101
Gene: ENSMUSG00000025909
AA Change: T324A

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

noncoding transcript
Transcript: ENSMUST00000140995

Predicted Effect

probably damaging
Transcript: ENSMUST00000191683
AA Change: T323A

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000141839
Gene: ENSMUSG00000025909
AA Change: T323A

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

0.1197

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.9%
20x: 94.8%

Validation Efficiency

94% (79/84)

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: 79 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2610028H24Rik	A	G	10: 76,457,512	M156V	probably benign	Het
Adnp2	A	T	18: 80,129,745	V483D	probably damaging	Het
Aff1	G	T	5: 103,828,484	E491*	probably null	Het
Agl	A	T	3: 116,776,608	C911*	probably null	Het
Akt2	A	G	7: 27,636,058	D284G	probably damaging	Het
Alox15	A	G	11: 70,349,635	M240T	possibly damaging	Het
Antxr2	A	G	5: 97,979,985	V229A	probably damaging	Het
Arap2	G	A	5: 62,683,484	L680F	probably damaging	Het
Btaf1	A	G	19: 36,958,373	T188A	probably benign	Het
Btnl6	G	A	17: 34,515,531	Q86*	probably null	Het
C2cd3	T	A	7: 100,416,062	L685H	probably damaging	Het
Cdh23	T	C	10: 60,413,173	T878A	possibly damaging	Het
Clec4b2	T	C	6: 123,202,149	Y137H	probably damaging	Het
Dchs1	T	A	7: 105,755,836	T2500S	possibly damaging	Het
Def6	A	G	17: 28,217,092	Y75C	probably damaging	Het
Dhx33	A	T	11: 70,993,635	F448L	probably damaging	Het
Dner	C	T	1: 84,494,893		probably benign	Het
Dnmbp	G	A	19: 43,902,231	P366S	probably benign	Het
Eif4g3	T	C	4: 138,175,848	C1160R	possibly damaging	Het
Elmod1	G	A	9: 53,912,901		probably benign	Het
Faah	C	A	4: 116,004,391	L305F	probably damaging	Het
Fam71b	A	G	11: 46,406,804	T312A	unknown	Het
Flt1	A	G	5: 147,571,014		probably benign	Het
Fyco1	A	T	9: 123,822,406	N1196K	probably benign	Het
Galnt18	T	C	7: 111,554,457	N320S	probably damaging	Het
Glp2r	C	A	11: 67,709,712	G437V	possibly damaging	Het
Gm4884	T	C	7: 41,044,292	S562P	probably damaging	Het
Gm9936	A	G	5: 114,857,347		probably benign	Het
Gpn2	C	A	4: 133,584,792	P112T	probably damaging	Het
Grm4	A	G	17: 27,431,575	Y816H	probably benign	Het
Helz2	A	T	2: 181,240,959	S14T	probably benign	Het
Htt	T	C	5: 34,820,104	L778P	probably benign	Het
Il11ra1	T	C	4: 41,765,060	S129P	probably damaging	Het
Ints11	T	C	4: 155,887,168	F315S	probably damaging	Het
Itga11	A	T	9: 62,776,613	N1059Y	possibly damaging	Het
Jak3	A	G	8: 71,684,327	S716G	probably damaging	Het
Kcns1	G	T	2: 164,168,643	D65E	probably benign	Het
Kdm5d	A	T	Y: 941,715	K1305N	probably benign	Het
Kif26a	G	T	12: 112,177,880	V1523L	probably benign	Het
Mboat7	A	G	7: 3,683,822	S340P	probably damaging	Het
Mctp2	T	C	7: 72,229,408	I234V	probably benign	Het
Mex3c	G	A	18: 73,590,551	A572T	probably benign	Het
Mpp3	C	A	11: 102,005,425	R424L	probably benign	Het
Mroh4	T	A	15: 74,608,237		probably benign	Het
Myo9a	A	T	9: 59,860,206		probably benign	Het
Myog	T	A	1: 134,290,235	H60Q	probably damaging	Het
Nlrp9a	T	A	7: 26,571,225		probably null	Het
Notch1	A	G	2: 26,473,818	V868A	possibly damaging	Het
Olfr352	A	G	2: 36,870,160	N198S	probably damaging	Het
Olfr59	T	A	11: 74,289,051	I135N	possibly damaging	Het
Olfr73	T	C	2: 88,034,266	Y291C	possibly damaging	Het
Olfr980	A	T	9: 40,006,355	I198N	probably damaging	Het
Pink1	T	C	4: 138,317,401	T342A	probably benign	Het
Plb1	T	A	5: 32,349,615		probably benign	Het
Plec	T	C	15: 76,178,246	D2524G	probably damaging	Het
Plekhg4	G	T	8: 105,375,396	E6*	probably null	Het
Polq	T	C	16: 37,061,839	F1455S	possibly damaging	Het
Ppm1e	A	G	11: 87,249,058		probably benign	Het
Prkaca	G	A	8: 83,988,303	M119I	possibly damaging	Het
Prss46	G	T	9: 110,850,055	S108I	probably damaging	Het
Ptma	C	T	1: 86,529,776		probably benign	Het
Rab11fip4	C	T	11: 79,689,653	T437M	probably benign	Het
Rngtt	T	A	4: 33,379,409	M437K	probably benign	Het
Rrn3	T	A	16: 13,813,113	D604E	possibly damaging	Het
Scn4a	A	G	11: 106,348,405		probably benign	Het
Sis	A	G	3: 72,910,476	L1468P	possibly damaging	Het
Slit3	A	G	11: 35,707,918	M1450V	probably benign	Het
Smg5	T	C	3: 88,349,233	S269P	probably benign	Het
Son	C	T	16: 91,651,662	T37I	probably damaging	Het
Stk17b	T	C	1: 53,764,132	I41M	probably benign	Het
Tgm5	T	A	2: 121,076,882	Y120F	probably damaging	Het
Tppp	A	G	13: 74,021,360	K73R	possibly damaging	Het
Ttn	C	A	2: 76,739,158	K27130N	probably damaging	Het
Ttn	C	T	2: 76,907,752	V4148I	probably benign	Het
Uba7	A	T	9: 107,978,249	Y375F	probably damaging	Het
Ugcg	T	C	4: 59,213,931	L171P	possibly damaging	Het
Vsig2	T	C	9: 37,542,576		probably benign	Het
Zcchc11	T	A	4: 108,530,955		probably benign	Het
Zfp839	T	A	12: 110,868,386	S692T	possibly 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
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
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'- GCTGTGAGAGTGCTATGAGTCACC -3'
(R):5'- TCCTGAAAAGAGGGAGACAACTCCTG -3'

Sequencing Primer
(F):5'- ACAGTGATTGTCAGATCCCAAG -3'
(R):5'- GAGGGAAGCAGAAATGCCTT -3'

Posted On

2013-05-09