Incidental Mutation 'IGL01649:Sntg1'
ID102785
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Sntg1
Ensembl Gene ENSMUSG00000025909
Gene Namesyntrophin, gamma 1
SynonymsSYN4, G1SYN
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.097) question?
Stock #IGL01649
Quality Score
Status
Chromosome1
Chromosomal Location8361475-9299878 bp(-) (GRCm38)
Type of Mutationsplice site
DNA Base Change (assembly) C to T at 8681969 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000141839 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000115488] [ENSMUST00000132064] [ENSMUST00000140295] [ENSMUST00000140302] [ENSMUST00000144593] [ENSMUST00000191683]
Predicted Effect probably benign
Transcript: ENSMUST00000115488
SMART Domains Protein: ENSMUSP00000111151
Gene: ENSMUSG00000025909

DomainStartEndE-ValueType
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 benign
Transcript: ENSMUST00000132064
SMART Domains Protein: ENSMUSP00000122134
Gene: ENSMUSG00000025909

DomainStartEndE-ValueType
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 probably benign
Transcript: ENSMUST00000140295
SMART Domains Protein: ENSMUSP00000118101
Gene: ENSMUSG00000025909

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
PDZ 66 140 3.41e-17 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000144593
SMART Domains Protein: ENSMUSP00000123632
Gene: ENSMUSG00000025909

DomainStartEndE-ValueType
Blast:Tubulin_C 6 49 2e-18 BLAST
Predicted Effect probably benign
Transcript: ENSMUST00000191683
SMART Domains Protein: ENSMUSP00000141839
Gene: ENSMUSG00000025909

DomainStartEndE-ValueType
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: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930430A15Rik A T 2: 111,214,576 probably benign Het
4931429L15Rik A G 9: 46,305,818 S220P probably benign Het
Adam18 T C 8: 24,614,896 N634S possibly damaging Het
Arhgef18 T A 8: 3,441,211 probably benign Het
Birc6 A G 17: 74,604,546 S1518G probably benign Het
Cltc A G 11: 86,726,400 V341A probably benign Het
Dlg5 A G 14: 24,138,691 V1721A probably damaging Het
Dnah10 A T 5: 124,732,489 I274F probably damaging Het
Dock1 T A 7: 134,777,410 L622Q probably damaging Het
Dysf A G 6: 84,199,839 D1960G probably damaging Het
Fat3 T C 9: 16,376,719 T503A possibly damaging Het
Glb1 A G 9: 114,423,948 Y73C probably damaging Het
Gm9396 G T 3: 130,068,619 noncoding transcript Het
Gml2 G T 15: 74,824,221 E155* probably null Het
Ikzf4 G A 10: 128,635,820 R323C probably damaging Het
Kiz A G 2: 146,889,309 T240A probably benign Het
Lzts3 T C 2: 130,635,431 K480E probably damaging Het
Mcm7 T C 5: 138,169,436 H105R probably damaging Het
Mpdz A G 4: 81,303,633 L1464P probably damaging Het
Mrgpra9 A C 7: 47,235,152 L256V probably benign Het
Mrpl40 T C 16: 18,872,579 Q127R probably benign Het
Myom2 G T 8: 15,113,755 R1003L probably benign Het
Nav2 A G 7: 49,575,729 T1806A probably damaging Het
Olfr248 T C 1: 174,391,408 L113P probably damaging Het
Pibf1 A T 14: 99,187,763 Y562F possibly damaging Het
Ppm1n A T 7: 19,278,197 probably benign Het
Psg17 A G 7: 18,816,802 V376A possibly damaging Het
Sept8 T A 11: 53,535,028 F143I possibly damaging Het
Sestd1 A G 2: 77,199,045 Y330H probably damaging Het
Stpg2 C A 3: 139,419,862 P472Q probably damaging Het
Thbs1 A G 2: 118,114,982 K314R probably benign Het
Vav3 T C 3: 109,562,762 Y508H probably benign Het
Other mutations in Sntg1
AlleleSourceChrCoordTypePredicted EffectPPH 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
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
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 On2014-01-21