Incidental Mutation 'IGL01987:Sntg2'
ID 181944
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Sntg2
Ensembl Gene ENSMUSG00000020672
Gene Name syntrophin, gamma 2
Synonyms 2210008K22Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.099) question?
Stock # IGL01987
Quality Score
Status
Chromosome 12
Chromosomal Location 30224481-30423374 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 30362569 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 59 (V59A)
Ref Sequence ENSEMBL: ENSMUSP00000123332 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021004] [ENSMUST00000133324] [ENSMUST00000142046] [ENSMUST00000149710]
AlphaFold Q925E0
Predicted Effect probably damaging
Transcript: ENSMUST00000021004
AA Change: V59A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000021004
Gene: ENSMUSG00000020672
AA Change: V59A

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 noncoding transcript
Transcript: ENSMUST00000125530
Predicted Effect possibly damaging
Transcript: ENSMUST00000133324
AA Change: V59A

PolyPhen 2 Score 0.904 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000114245
Gene: ENSMUSG00000020672
AA Change: V59A

DomainStartEndE-ValueType
Blast:PH 13 70 9e-24 BLAST
Predicted Effect probably damaging
Transcript: ENSMUST00000142046
AA Change: V59A

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000115942
Gene: ENSMUSG00000020672
AA Change: V59A

DomainStartEndE-ValueType
Blast:PH 13 89 1e-23 BLAST
Predicted Effect probably damaging
Transcript: ENSMUST00000149710
AA Change: V59A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000123332
Gene: ENSMUSG00000020672
AA Change: V59A

DomainStartEndE-ValueType
PDZ 82 156 1.83e-17 SMART
low complexity region 159 183 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000156953
Predicted Effect noncoding transcript
Transcript: ENSMUST00000218723
Predicted Effect noncoding transcript
Transcript: ENSMUST00000218489
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: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca17 A G 17: 24,565,202 (GRCm39) F77L probably benign Het
Abca8a A G 11: 109,964,981 (GRCm39) F439L possibly damaging Het
Abcb5 A T 12: 118,891,093 (GRCm39) V468D probably damaging Het
Adgrb3 A T 1: 25,140,512 (GRCm39) probably null Het
Ajm1 T C 2: 25,467,970 (GRCm39) E647G possibly damaging Het
Ankrd28 T C 14: 31,500,931 (GRCm39) D50G probably damaging Het
Cacna1b A T 2: 24,587,579 (GRCm39) probably null Het
Capn9 A G 8: 125,302,965 (GRCm39) S28G probably benign Het
Cdk5rap2 A G 4: 70,220,319 (GRCm39) probably null Het
Dmtf1l C T X: 125,722,098 (GRCm39) E336K possibly damaging Het
E2f5 T C 3: 14,652,363 (GRCm39) probably benign Het
Fam135b A G 15: 71,333,964 (GRCm39) Y1077H probably benign Het
Fap A G 2: 62,359,020 (GRCm39) Y428H probably damaging Het
Fasn A G 11: 120,708,899 (GRCm39) S595P probably damaging Het
Flnb T C 14: 7,922,748 (GRCm38) probably null Het
Fzd3 A T 14: 65,477,347 (GRCm39) V69E probably damaging Het
Gcdh A T 8: 85,620,110 (GRCm39) probably benign Het
Ido1 A G 8: 25,083,159 (GRCm39) Y89H probably benign Het
Itga2 G A 13: 114,984,482 (GRCm39) Q1010* probably null Het
Man1a2 T C 3: 100,551,873 (GRCm39) Y280C probably damaging Het
Mgat4d T C 8: 84,094,731 (GRCm39) I256T probably damaging Het
Mmrn1 A G 6: 60,921,557 (GRCm39) K5E probably benign Het
Ncapd2 A G 6: 125,162,804 (GRCm39) probably benign Het
Or2at4 A T 7: 99,384,478 (GRCm39) I43F probably damaging Het
Or7g18 A T 9: 18,787,003 (GRCm39) I127L probably benign Het
Pcnx3 T C 19: 5,727,507 (GRCm39) D644G probably damaging Het
Pole T C 5: 110,485,098 (GRCm39) V2280A probably benign Het
Ptprf T A 4: 118,134,567 (GRCm39) M24L probably benign Het
Sbno1 T C 5: 124,542,282 (GRCm39) N337S probably damaging Het
Serpinc1 T A 1: 160,820,977 (GRCm39) F141L probably damaging Het
Shroom3 C A 5: 93,090,048 (GRCm39) R933S probably damaging Het
Slc24a2 G A 4: 87,146,033 (GRCm39) P7L probably benign Het
Slc25a32 G A 15: 38,961,002 (GRCm39) T227I probably damaging Het
Slc7a1 A G 5: 148,274,002 (GRCm39) F396L possibly damaging Het
Smok2a G A 17: 13,445,377 (GRCm39) R318H probably benign Het
Sspo A G 6: 48,454,558 (GRCm39) probably null Het
Tnfrsf1a G A 6: 125,333,827 (GRCm39) V27I probably damaging Het
Tnpo3 T C 6: 29,560,200 (GRCm39) T648A probably benign Het
Tpbg A G 9: 85,727,252 (GRCm39) Y407C probably damaging Het
Wbp2nl A T 15: 82,192,762 (GRCm39) M149L probably benign Het
Yif1a T A 19: 5,141,625 (GRCm39) M181K probably benign Het
Zkscan8 A G 13: 21,710,729 (GRCm39) L127S probably damaging Het
Other mutations in Sntg2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00231:Sntg2 APN 12 30,326,720 (GRCm39) missense probably benign 0.08
IGL00914:Sntg2 APN 12 30,307,956 (GRCm39) intron probably benign
IGL00950:Sntg2 APN 12 30,362,680 (GRCm39) splice site probably benign
IGL01106:Sntg2 APN 12 30,307,987 (GRCm39) nonsense probably null
IGL01732:Sntg2 APN 12 30,362,648 (GRCm39) missense probably damaging 0.99
IGL02138:Sntg2 APN 12 30,357,230 (GRCm39) critical splice acceptor site probably null
IGL02325:Sntg2 APN 12 30,245,542 (GRCm39) missense probably benign 0.08
IGL02619:Sntg2 APN 12 30,317,025 (GRCm39) splice site probably null
IGL02797:Sntg2 APN 12 30,276,891 (GRCm39) missense possibly damaging 0.93
IGL03176:Sntg2 APN 12 30,317,022 (GRCm39) splice site probably benign
PIT4445001:Sntg2 UTSW 12 30,362,571 (GRCm39) missense probably damaging 1.00
R0126:Sntg2 UTSW 12 30,251,260 (GRCm39) splice site probably benign
R0309:Sntg2 UTSW 12 30,276,772 (GRCm39) missense probably benign 0.03
R0614:Sntg2 UTSW 12 30,307,977 (GRCm39) missense possibly damaging 0.87
R1267:Sntg2 UTSW 12 30,295,127 (GRCm39) missense probably benign 0.42
R1546:Sntg2 UTSW 12 30,338,295 (GRCm39) missense probably damaging 1.00
R1696:Sntg2 UTSW 12 30,317,062 (GRCm39) missense probably damaging 1.00
R1708:Sntg2 UTSW 12 30,423,179 (GRCm39) missense possibly damaging 0.81
R1867:Sntg2 UTSW 12 30,286,650 (GRCm39) missense probably benign
R2256:Sntg2 UTSW 12 30,286,687 (GRCm39) nonsense probably null
R2895:Sntg2 UTSW 12 30,276,845 (GRCm39) missense probably benign 0.00
R3401:Sntg2 UTSW 12 30,338,171 (GRCm39) splice site probably benign
R3522:Sntg2 UTSW 12 30,362,566 (GRCm39) missense probably damaging 0.99
R4771:Sntg2 UTSW 12 30,326,658 (GRCm39) splice site probably null
R4814:Sntg2 UTSW 12 30,423,267 (GRCm39) unclassified probably benign
R5554:Sntg2 UTSW 12 30,308,040 (GRCm39) missense probably benign 0.08
R6056:Sntg2 UTSW 12 30,362,560 (GRCm39) missense probably benign 0.06
R6328:Sntg2 UTSW 12 30,308,013 (GRCm39) missense probably damaging 1.00
R6373:Sntg2 UTSW 12 30,308,040 (GRCm39) missense probably benign 0.08
R7314:Sntg2 UTSW 12 30,317,107 (GRCm39) missense probably benign 0.01
R7494:Sntg2 UTSW 12 30,279,633 (GRCm39) missense possibly damaging 0.89
R7571:Sntg2 UTSW 12 30,225,201 (GRCm39) missense probably damaging 0.99
R7749:Sntg2 UTSW 12 30,276,910 (GRCm39) missense probably benign 0.01
R9375:Sntg2 UTSW 12 30,293,343 (GRCm39) critical splice acceptor site probably null
R9616:Sntg2 UTSW 12 30,326,732 (GRCm39) missense probably benign 0.30
Posted On 2014-05-07