Incidental Mutation 'IGL02797:Sntg2'
ID360002
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Sntg2
Ensembl Gene ENSMUSG00000020672
Gene Namesyntrophin, gamma 2
Synonyms2210008K22Rik
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.105) question?
Stock #IGL02797
Quality Score
Status
Chromosome12
Chromosomal Location30174482-30373375 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to G at 30226892 bp
ZygosityHeterozygous
Amino Acid Change Tyrosine to Serine at position 387 (Y387S)
Ref Sequence ENSEMBL: ENSMUSP00000021004 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021004] [ENSMUST00000133324] [ENSMUST00000142046] [ENSMUST00000149710]
Predicted Effect possibly damaging
Transcript: ENSMUST00000021004
AA Change: Y387S

PolyPhen 2 Score 0.931 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000021004
Gene: ENSMUSG00000020672
AA Change: Y387S

DomainStartEndE-ValueType
PDZ 82 156 1.83e-17 SMART
low complexity region 159 183 N/A INTRINSIC
PH 297 423 7.66e-1 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000133324
SMART Domains Protein: ENSMUSP00000114245
Gene: ENSMUSG00000020672

DomainStartEndE-ValueType
Blast:PH 13 70 9e-24 BLAST
Predicted Effect probably benign
Transcript: ENSMUST00000142046
SMART Domains Protein: ENSMUSP00000115942
Gene: ENSMUSG00000020672

DomainStartEndE-ValueType
Blast:PH 13 89 1e-23 BLAST
Predicted Effect probably benign
Transcript: ENSMUST00000149710
SMART Domains Protein: ENSMUSP00000123332
Gene: ENSMUSG00000020672

DomainStartEndE-ValueType
PDZ 82 156 1.83e-17 SMART
low complexity region 159 183 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.] This gene encodes a protein belonging to the syntrophin family. Syntrophins are cytoplasmic peripheral membrane proteins that bind to components of mechanosenstive sodium channels and the extreme carboxy-terminal domain of dystrophin and dystrophin-related proteins. The PDZ domain of this protein product interacts with a protein component of a mechanosensitive sodium channel that affects channel gating. Absence or reduction of this protein product has been associated with Duchenne muscular dystrophy. There is evidence of alternative splicing yet the full-length nature of these variants has not been described. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc5 A G 16: 20,368,464 M924T probably benign Het
B3gat2 A G 1: 23,815,279 Y218C probably damaging Het
Bcs1l T C 1: 74,590,461 probably null Het
C77080 C T 4: 129,223,311 R565H probably damaging Het
Cd109 T A 9: 78,661,713 I358N probably damaging Het
Cd276 T C 9: 58,537,436 D84G possibly damaging Het
Chsy1 T C 7: 66,171,664 F549S probably damaging Het
Clca2 T C 3: 145,081,263 N549S probably benign Het
Cma1 A G 14: 55,943,814 S32P possibly damaging Het
Col23a1 G A 11: 51,561,916 probably null Het
Ctps A T 4: 120,562,824 I131K probably benign Het
Cyp2w1 T C 5: 139,356,873 L441P probably damaging Het
Dnajc21 A G 15: 10,461,355 Y170H probably damaging Het
Eif3a A T 19: 60,772,726 L648Q probably damaging Het
Eif3l T A 15: 79,075,277 D6E probably benign Het
Fam228a A T 12: 4,731,484 L125Q probably damaging Het
Foxa2 A G 2: 148,044,125 C263R possibly damaging Het
Gm17455 A G 10: 60,403,328 E124G possibly damaging Het
Gm8882 T A 6: 132,363,045 probably null Het
Gpc6 T G 14: 116,925,982 L16R probably damaging Het
Hdac9 A G 12: 34,393,274 probably benign Het
Herc3 A G 6: 58,868,694 N400S probably benign Het
Herc4 G A 10: 63,316,807 probably null Het
Il12b A G 11: 44,410,353 probably null Het
Lama4 A G 10: 39,056,924 R599G probably null Het
Lrp1b T A 2: 41,671,057 E286V Het
Mink1 C T 11: 70,610,350 P784S probably damaging Het
Musk T C 4: 58,366,921 F513S probably benign Het
Nfasc T A 1: 132,610,448 D474V probably damaging Het
Nos2 T G 11: 78,940,344 F420V probably damaging Het
Olfr597 A T 7: 103,320,851 I147L probably benign Het
Pcdhb14 A G 18: 37,449,851 Y670C probably damaging Het
Polr1b A G 2: 129,102,979 E65G probably damaging Het
Ppp1r10 T G 17: 35,928,012 probably null Het
Prag1 C T 8: 36,139,501 R799C probably damaging Het
Ptch1 T C 13: 63,533,607 N485S probably benign Het
Rgsl1 T C 1: 153,807,708 T19A probably damaging Het
Sgpl1 A C 10: 61,101,728 S507A probably benign Het
Sgpp2 A G 1: 78,417,182 D274G probably benign Het
Skap1 A G 11: 96,713,017 D211G possibly damaging Het
Smc3 A G 19: 53,638,758 T830A probably benign Het
Smpd2 G A 10: 41,488,078 T215I possibly damaging Het
Sorl1 T G 9: 42,037,059 D810A probably damaging Het
Spata5 A G 3: 37,458,316 probably benign Het
Spop T A 11: 95,482,083 I217N probably damaging Het
Stac2 T C 11: 98,043,519 R120G possibly damaging Het
Stau1 A T 2: 166,949,346 *496R probably null Het
Tmeff2 C T 1: 50,928,047 R34C probably damaging Het
Treml2 C T 17: 48,302,711 A57V possibly damaging Het
Vmn2r15 T C 5: 109,297,384 D58G probably benign Het
Vmn2r7 T C 3: 64,691,245 I721M possibly damaging Het
Vmn2r70 C A 7: 85,559,087 M727I probably benign Het
Vwa8 T A 14: 78,925,262 C161S probably benign Het
Other mutations in Sntg2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00231:Sntg2 APN 12 30276721 missense probably benign 0.08
IGL00914:Sntg2 APN 12 30257957 intron probably benign
IGL00950:Sntg2 APN 12 30312681 splice site probably benign
IGL01106:Sntg2 APN 12 30257988 nonsense probably null
IGL01732:Sntg2 APN 12 30312649 missense probably damaging 0.99
IGL01987:Sntg2 APN 12 30312570 missense probably damaging 1.00
IGL02138:Sntg2 APN 12 30307231 critical splice acceptor site probably null
IGL02325:Sntg2 APN 12 30195543 missense probably benign 0.08
IGL02619:Sntg2 APN 12 30267026 splice site probably null
IGL03176:Sntg2 APN 12 30267023 splice site probably benign
PIT4445001:Sntg2 UTSW 12 30312572 missense probably damaging 1.00
R0126:Sntg2 UTSW 12 30201261 splice site probably benign
R0309:Sntg2 UTSW 12 30226773 missense probably benign 0.03
R0614:Sntg2 UTSW 12 30257978 missense possibly damaging 0.87
R1267:Sntg2 UTSW 12 30245128 missense probably benign 0.42
R1546:Sntg2 UTSW 12 30288296 missense probably damaging 1.00
R1696:Sntg2 UTSW 12 30267063 missense probably damaging 1.00
R1708:Sntg2 UTSW 12 30373180 missense possibly damaging 0.81
R1867:Sntg2 UTSW 12 30236651 missense probably benign
R2256:Sntg2 UTSW 12 30236688 nonsense probably null
R2895:Sntg2 UTSW 12 30226846 missense probably benign 0.00
R3401:Sntg2 UTSW 12 30288172 splice site probably benign
R3522:Sntg2 UTSW 12 30312567 missense probably damaging 0.99
R4771:Sntg2 UTSW 12 30276659 splice site probably null
R4814:Sntg2 UTSW 12 30373268 unclassified probably benign
R5554:Sntg2 UTSW 12 30258041 missense probably benign 0.08
R6056:Sntg2 UTSW 12 30312561 missense probably benign 0.06
R6328:Sntg2 UTSW 12 30258014 missense probably damaging 1.00
R6373:Sntg2 UTSW 12 30258041 missense probably benign 0.08
R7314:Sntg2 UTSW 12 30267108 missense probably benign 0.01
R7494:Sntg2 UTSW 12 30229634 missense possibly damaging 0.89
R7571:Sntg2 UTSW 12 30175202 missense probably damaging 0.99
R7749:Sntg2 UTSW 12 30226911 missense probably benign 0.01
Posted On2015-12-18