Incidental Mutation 'R4152:Sntg1'
ID 314930
Institutional Source Beutler Lab
Gene Symbol Sntg1
Ensembl Gene ENSMUSG00000025909
Gene Name syntrophin, gamma 1
Synonyms G1SYN, SYN4
MMRRC Submission 040996-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.077) question?
Stock # R4152 (G1)
Quality Score 225
Status Validated
Chromosome 1
Chromosomal Location 8431699-9370103 bp(-) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) A to T at 8653569 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000141839 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000115488] [ENSMUST00000115488] [ENSMUST00000115488] [ENSMUST00000115488] [ENSMUST00000132064] [ENSMUST00000132064] [ENSMUST00000132064] [ENSMUST00000132064] [ENSMUST00000140295] [ENSMUST00000140295] [ENSMUST00000140302] [ENSMUST00000140302] [ENSMUST00000191683] [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: 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: 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: 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: 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: 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: 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 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: 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
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
Meta Mutation Damage Score 0.9755 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.4%
  • 20x: 95.7%
Validation Efficiency 96% (45/47)
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
Acaca T G 11: 84,183,752 (GRCm39) M31R possibly damaging Het
Akap6 A C 12: 53,187,190 (GRCm39) S1535R probably benign Het
Ap3b2 A G 7: 81,127,765 (GRCm39) I137T probably damaging Het
Cdc16 A G 8: 13,812,857 (GRCm39) S36G probably damaging Het
Clcn4 T C 7: 7,297,833 (GRCm39) N67D probably benign Het
Col4a1 T C 8: 11,267,227 (GRCm39) probably null Het
Crem G T 18: 3,288,055 (GRCm39) N179K probably damaging Het
Fam78b T C 1: 166,906,369 (GRCm39) M176T probably benign Het
Fcgbpl1 T A 7: 27,856,322 (GRCm39) H2036Q possibly damaging Het
Gcn1 A G 5: 115,751,413 (GRCm39) probably null Het
Gm6483 T C 8: 19,737,926 (GRCm39) noncoding transcript Het
Klk14 G A 7: 43,341,501 (GRCm39) C51Y probably damaging Het
Klk1b16 T C 7: 43,789,973 (GRCm39) F81S probably benign Het
Lpgat1 C A 1: 191,451,600 (GRCm39) Y36* probably null Het
Mavs A G 2: 131,088,528 (GRCm39) D444G probably benign Het
Ndst3 T C 3: 123,465,876 (GRCm39) Y32C probably damaging Het
Nemp2 A G 1: 52,680,210 (GRCm39) S145G probably benign Het
Or52b1 T C 7: 104,978,592 (GRCm39) N269S probably damaging Het
Or7g20 T A 9: 18,946,816 (GRCm39) Y132* probably null Het
Or8g52 A C 9: 39,631,296 (GRCm39) M258L probably benign Het
Pds5a A T 5: 65,823,514 (GRCm39) C92* probably null Het
Pgk2 A G 17: 40,519,149 (GRCm39) V93A probably damaging Het
Phf3 C T 1: 30,870,539 (GRCm39) V116I probably benign Het
Prl8a2 T C 13: 27,534,985 (GRCm39) Y86H possibly damaging Het
Rab4b T C 7: 26,875,551 (GRCm39) probably benign Het
Rsad1 T C 11: 94,439,449 (GRCm39) probably benign Het
Sim1 G A 10: 50,859,950 (GRCm39) C604Y probably damaging Het
Slc5a3 T A 16: 91,874,696 (GRCm39) L251* probably null Het
Slit3 A G 11: 35,589,147 (GRCm39) N1234S probably damaging Het
Snx31 T C 15: 36,525,785 (GRCm39) N305D probably benign Het
St14 T C 9: 31,001,802 (GRCm39) I768V probably benign Het
Tep1 G A 14: 51,075,051 (GRCm39) H1755Y possibly damaging Het
Tlr6 A C 5: 65,110,555 (GRCm39) F784C probably damaging Het
Tmem132a A G 19: 10,836,427 (GRCm39) V701A probably benign Het
Tspan15 A T 10: 62,025,621 (GRCm39) M197K possibly damaging Het
Upf1 C T 8: 70,791,110 (GRCm39) R544H probably damaging Het
Vegfb T C 19: 6,963,446 (GRCm39) Y106C probably damaging Het
Vmn2r100 AAAACAGGAGTATTGATTGGAAAC AAAAC 17: 19,743,681 (GRCm39) probably null Het
Vmn2r18 T A 5: 151,485,730 (GRCm39) Q588L probably damaging Het
Vmn2r66 T C 7: 84,654,800 (GRCm39) D503G probably benign Het
Zc3h15 T C 2: 83,488,913 (GRCm39) V161A probably benign 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
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
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
Predicted Primers PCR Primer
(F):5'- GCTGAAAGACTTGCTGGTTAG -3'
(R):5'- GATGTTGTTCCATAGCACATGC -3'

Sequencing Primer
(F):5'- AGACTTGCTGGTTAGATATTTATTCC -3'
(R):5'- CTCAAAGGTTGTCCATATTTAGCTG -3'
Posted On 2015-05-14