Incidental Mutation 'IGL02230:Sntg1'
ID 285673
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 # IGL02230
Quality Score
Status
Chromosome 1
Chromosomal Location 8431699-9370103 bp(-) (GRCm39)
Type of Mutation critical splice donor site (2 bp from exon)
DNA Base Change (assembly) A to T at 8752195 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000141839 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000115488] [ENSMUST00000132064] [ENSMUST00000140295] [ENSMUST00000140302] [ENSMUST00000144593] [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 benign
Transcript: ENSMUST00000144593
SMART Domains Protein: ENSMUSP00000123632
Gene: ENSMUSG00000025909

DomainStartEndE-ValueType
Blast:Tubulin_C 6 49 2e-18 BLAST
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: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Actn1 T A 12: 80,218,604 (GRCm39) T727S probably benign Het
Cyp4a12b A T 4: 115,291,193 (GRCm39) I374F probably damaging Het
Ecel1 T C 1: 87,079,916 (GRCm39) N399S probably damaging Het
Fpr-rs3 T C 17: 20,844,190 (GRCm39) E317G probably damaging Het
Gm10030 T A 9: 110,835,458 (GRCm39) noncoding transcript Het
Gm4884 A T 7: 40,692,829 (GRCm39) Q266L probably damaging Het
Gpr45 C A 1: 43,071,816 (GRCm39) A153E probably damaging Het
Hc A G 2: 34,903,682 (GRCm39) F991L probably benign Het
Hif1a T G 12: 73,979,224 (GRCm39) D249E probably damaging Het
Hsd17b12 A G 2: 93,875,743 (GRCm39) L194P possibly damaging Het
Hspg2 T C 4: 137,245,956 (GRCm39) S947P probably damaging Het
Kng1 G T 16: 22,879,244 (GRCm39) probably null Het
Lpp C T 16: 24,580,895 (GRCm39) R204W probably damaging Het
Lrrc4 T A 6: 28,830,879 (GRCm39) K245N probably damaging Het
Mdga2 G A 12: 66,702,197 (GRCm39) R335* probably null Het
Naa16 A T 14: 79,614,801 (GRCm39) probably benign Het
Ncbp1 C A 4: 46,165,272 (GRCm39) N528K probably benign Het
Or10a2 A G 7: 106,673,700 (GRCm39) I222V probably damaging Het
Or7a41 T A 10: 78,870,876 (GRCm39) M82K probably damaging Het
Pipox A G 11: 77,772,032 (GRCm39) L364P probably damaging Het
R3hdm4 C A 10: 79,747,925 (GRCm39) A206S probably damaging Het
Rasgrf2 A G 13: 92,136,145 (GRCm39) I589T probably damaging Het
Ror2 C T 13: 53,264,764 (GRCm39) S764N probably damaging Het
Sdr16c5 T C 4: 4,016,354 (GRCm39) E24G probably damaging Het
Sec24a T C 11: 51,599,861 (GRCm39) I815V possibly damaging Het
Serpina16 A G 12: 103,641,561 (GRCm39) Y55H probably damaging Het
Sirt2 C T 7: 28,478,371 (GRCm39) R83C probably damaging Het
Stmn1 A G 4: 134,200,224 (GRCm39) E99G probably damaging Het
Tas2r103 T C 6: 133,014,019 (GRCm39) I16V possibly damaging Het
Vit A G 17: 78,927,056 (GRCm39) K334E probably damaging Het
Washc4 T C 10: 83,417,233 (GRCm39) I876T probably benign Het
Wrn A T 8: 33,807,591 (GRCm39) V289D probably damaging Het
Zfp318 C T 17: 46,707,736 (GRCm39) R265* probably null Het
Other mutations in Sntg1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00896:Sntg1 APN 1 8,665,634 (GRCm39) critical splice donor site probably null
IGL01536:Sntg1 APN 1 8,653,424 (GRCm39) splice 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
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 2015-04-16