Incidental Mutation 'IGL01536:Sntg1'
ID 89978
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Sntg1
Ensembl Gene ENSMUSG00000025909
Gene Name syntrophin, gamma 1
Synonyms G1SYN, SYN4
Accession Numbers
Essential gene? Probably non essential (E-score: 0.077) question?
Stock # IGL01536
Quality Score
Status
Chromosome 1
Chromosomal Location 8431699-9370103 bp(-) (GRCm39)
Type of Mutation splice site (5 bp from exon)
DNA Base Change (assembly) C to T at 8653424 bp (GRCm39)
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 probably null
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 null
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 null
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 null
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: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Atp5f1a T C 18: 77,868,012 (GRCm39) probably benign Het
Ccnc A G 4: 21,732,505 (GRCm39) I81V probably benign Het
Cep112 A G 11: 108,422,237 (GRCm39) D560G probably null Het
Dis3 A G 14: 99,316,859 (GRCm39) Y826H probably damaging Het
Dtx2 A G 5: 136,038,940 (GRCm39) probably benign Het
Enpp4 T C 17: 44,410,494 (GRCm39) K361E possibly damaging Het
Erap1 A T 13: 74,810,542 (GRCm39) K294* probably null Het
Erbb4 T A 1: 68,329,441 (GRCm39) Y636F probably benign Het
Fads1 C A 19: 10,171,394 (GRCm39) Q342K probably benign Het
Fntb A T 12: 76,966,904 (GRCm39) T447S probably benign Het
Hdac4 A G 1: 91,857,868 (GRCm39) probably benign Het
Kcnh2 A G 5: 24,531,522 (GRCm39) I463T probably damaging Het
Kif13a G T 13: 46,905,765 (GRCm39) T726K probably damaging Het
Lcmt1 T C 7: 123,021,966 (GRCm39) S275P possibly damaging Het
Lmnb1 T C 18: 56,873,868 (GRCm39) S425P probably benign Het
Lrp1b T C 2: 41,000,895 (GRCm39) I2224V probably benign Het
Lrrc45 A T 11: 120,606,410 (GRCm39) T173S probably benign Het
Muc4 T C 16: 32,584,340 (GRCm39) Y2590H possibly damaging Het
Myo18a C T 11: 77,711,677 (GRCm39) P676L probably damaging Het
Or5m10 T C 2: 85,717,944 (GRCm39) S267P probably damaging Het
Pcdhb15 T C 18: 37,608,046 (GRCm39) M426T probably benign Het
Pik3cd A G 4: 149,737,123 (GRCm39) V891A probably damaging Het
Polr1b A G 2: 128,967,475 (GRCm39) N956S probably benign Het
Ppil3 T C 1: 58,483,750 (GRCm39) M1V probably null Het
Rad1 T A 15: 10,493,286 (GRCm39) S238T possibly damaging Het
Shc3 A C 13: 51,670,595 (GRCm39) S51A probably damaging Het
Slc9c1 T C 16: 45,409,992 (GRCm39) probably null Het
Smg5 A G 3: 88,256,552 (GRCm39) K273E possibly damaging Het
Sstr4 T C 2: 148,237,800 (GRCm39) L137P probably damaging Het
Taar8b C T 10: 23,967,493 (GRCm39) V234I probably benign Het
Tbc1d9 A G 8: 83,987,621 (GRCm39) Y860C probably damaging Het
Tll1 A T 8: 64,527,323 (GRCm39) S399R probably damaging Het
Tns1 T C 1: 73,958,807 (GRCm39) probably benign Het
Trim10 T A 17: 37,188,180 (GRCm39) probably null Het
Ttn C T 2: 76,562,695 (GRCm39) probably null Het
Usp43 T C 11: 67,746,764 (GRCm39) D981G probably benign Het
Vmn2r108 A T 17: 20,683,543 (GRCm39) C554S probably damaging Het
Vmn2r112 T A 17: 22,824,136 (GRCm39) Y464N probably damaging Het
Vmn2r31 T C 7: 7,387,847 (GRCm39) K575E probably damaging Het
Vmn2r50 C T 7: 9,771,610 (GRCm39) C697Y probably damaging Het
Zcchc8 A C 5: 123,858,782 (GRCm39) probably null Het
Other mutations in Sntg1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00896:Sntg1 APN 1 8,665,634 (GRCm39) critical splice donor site probably null
IGL01558:Sntg1 APN 1 8,533,612 (GRCm39) splice site probably benign
IGL01649:Sntg1 APN 1 8,752,193 (GRCm39) splice site probably benign
IGL02230:Sntg1 APN 1 8,752,195 (GRCm39) critical splice donor site probably null
IGL02252:Sntg1 APN 1 8,484,452 (GRCm39) missense probably benign 0.00
IGL02804:Sntg1 APN 1 8,874,182 (GRCm39) utr 5 prime probably benign
IGL03165:Sntg1 APN 1 8,515,328 (GRCm39) missense probably damaging 1.00
IGL03400:Sntg1 APN 1 8,533,638 (GRCm39) missense probably damaging 0.98
R0013:Sntg1 UTSW 1 8,533,686 (GRCm39) missense probably damaging 1.00
R0079:Sntg1 UTSW 1 8,749,286 (GRCm39) splice site probably benign
R0379:Sntg1 UTSW 1 8,853,048 (GRCm39) missense probably damaging 1.00
R0551:Sntg1 UTSW 1 8,624,960 (GRCm39) missense possibly damaging 0.73
R1081:Sntg1 UTSW 1 8,515,343 (GRCm39) missense possibly damaging 0.92
R1645:Sntg1 UTSW 1 8,874,155 (GRCm39) missense probably benign 0.06
R2089:Sntg1 UTSW 1 8,665,763 (GRCm39) missense probably benign 0.04
R2091:Sntg1 UTSW 1 8,665,763 (GRCm39) missense probably benign 0.04
R2091:Sntg1 UTSW 1 8,665,763 (GRCm39) missense probably benign 0.04
R3951:Sntg1 UTSW 1 8,853,125 (GRCm39) splice site probably benign
R4152:Sntg1 UTSW 1 8,653,569 (GRCm39) splice site probably null
R4153:Sntg1 UTSW 1 8,653,569 (GRCm39) splice site probably null
R4154:Sntg1 UTSW 1 8,653,569 (GRCm39) splice site probably null
R4847:Sntg1 UTSW 1 8,665,706 (GRCm39) missense possibly damaging 0.93
R4888:Sntg1 UTSW 1 8,433,818 (GRCm39) missense probably damaging 0.98
R4947:Sntg1 UTSW 1 8,853,022 (GRCm39) missense probably damaging 1.00
R5065:Sntg1 UTSW 1 8,433,663 (GRCm39) utr 3 prime probably benign
R5293:Sntg1 UTSW 1 8,665,757 (GRCm39) missense probably damaging 1.00
R5550:Sntg1 UTSW 1 8,695,008 (GRCm39) missense probably damaging 1.00
R5558:Sntg1 UTSW 1 8,484,495 (GRCm39) missense possibly damaging 0.94
R5687:Sntg1 UTSW 1 8,533,667 (GRCm39) missense possibly damaging 0.94
R5759:Sntg1 UTSW 1 8,484,494 (GRCm39) missense probably benign 0.00
R6075:Sntg1 UTSW 1 8,749,338 (GRCm39) makesense probably null
R6266:Sntg1 UTSW 1 8,624,953 (GRCm39) missense possibly damaging 0.56
R6313:Sntg1 UTSW 1 8,515,248 (GRCm39) splice site probably null
R6345:Sntg1 UTSW 1 8,653,508 (GRCm39) missense possibly damaging 0.85
R6490:Sntg1 UTSW 1 8,653,508 (GRCm39) missense possibly damaging 0.85
R6571:Sntg1 UTSW 1 8,433,752 (GRCm39) utr 3 prime probably benign
R6736:Sntg1 UTSW 1 8,515,274 (GRCm39) missense probably benign 0.16
R7112:Sntg1 UTSW 1 8,518,289 (GRCm39) missense possibly damaging 0.93
R7266:Sntg1 UTSW 1 8,752,243 (GRCm39) missense possibly damaging 0.81
R7414:Sntg1 UTSW 1 8,518,289 (GRCm39) missense probably damaging 1.00
R7583:Sntg1 UTSW 1 8,515,249 (GRCm39) critical splice donor site probably null
R7892:Sntg1 UTSW 1 8,853,024 (GRCm39) missense probably damaging 1.00
R7961:Sntg1 UTSW 1 8,433,794 (GRCm39) missense probably damaging 0.96
R7968:Sntg1 UTSW 1 8,535,760 (GRCm39) nonsense probably null
R8009:Sntg1 UTSW 1 8,433,794 (GRCm39) missense probably damaging 0.96
R8888:Sntg1 UTSW 1 8,748,074 (GRCm39) critical splice acceptor site probably null
R8895:Sntg1 UTSW 1 8,748,074 (GRCm39) critical splice acceptor site probably null
R8986:Sntg1 UTSW 1 8,484,491 (GRCm39) missense possibly damaging 0.92
R9184:Sntg1 UTSW 1 8,748,056 (GRCm39) missense probably damaging 1.00
R9435:Sntg1 UTSW 1 8,433,814 (GRCm39) missense probably damaging 0.98
R9463:Sntg1 UTSW 1 8,624,974 (GRCm39) missense probably damaging 0.98
R9603:Sntg1 UTSW 1 8,748,198 (GRCm39) missense probably damaging 1.00
R9653:Sntg1 UTSW 1 8,433,749 (GRCm39) missense unknown
X0026:Sntg1 UTSW 1 8,484,471 (GRCm39) missense probably benign 0.40
Posted On 2013-12-03