Incidental Mutation 'IGL01106:Sntg2'
ID 52456
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 # IGL01106
Quality Score
Status
Chromosome 12
Chromosomal Location 30224481-30423374 bp(-) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) T to A at 30307987 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Stop codon at position 233 (K233*)
Ref Sequence ENSEMBL: ENSMUSP00000021004 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021004] [ENSMUST00000133324] [ENSMUST00000142046] [ENSMUST00000149710]
AlphaFold Q925E0
Predicted Effect probably null
Transcript: ENSMUST00000021004
AA Change: K233*
SMART Domains Protein: ENSMUSP00000021004
Gene: ENSMUSG00000020672
AA Change: K233*

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: 29 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Atg13 T C 2: 91,526,297 (GRCm39) D12G probably damaging Het
Cmya5 A G 13: 93,221,120 (GRCm39) L3163P probably damaging Het
Cntn2 A G 1: 132,449,622 (GRCm39) probably benign Het
Ddx23 C T 15: 98,548,821 (GRCm39) R327Q probably benign Het
Dlec1 G A 9: 118,931,853 (GRCm39) E91K probably benign Het
Fam13c T C 10: 70,284,646 (GRCm39) probably null Het
Fbn1 T C 2: 125,193,626 (GRCm39) T1398A possibly damaging Het
Frem1 T C 4: 82,840,494 (GRCm39) T1793A probably benign Het
Gprc5b T C 7: 118,583,084 (GRCm39) K262E probably benign Het
Hadh A T 3: 131,034,619 (GRCm39) Y226N possibly damaging Het
Herc1 T A 9: 66,383,720 (GRCm39) probably benign Het
Ikbke A G 1: 131,187,792 (GRCm39) probably benign Het
Iqcg T A 16: 32,855,970 (GRCm39) I202L possibly damaging Het
Kank3 G A 17: 34,036,375 (GRCm39) G81E probably damaging Het
Kcna3 A G 3: 106,945,180 (GRCm39) E481G possibly damaging Het
Kdm1a A G 4: 136,299,639 (GRCm39) probably benign Het
Klhdc8a A T 1: 132,232,438 (GRCm39) S321C probably benign Het
Kntc1 A G 5: 123,900,666 (GRCm39) K255E probably benign Het
Lhfpl4 T A 6: 113,170,824 (GRCm39) T121S probably benign Het
Lsm11 G A 11: 45,824,490 (GRCm39) Q346* probably null Het
Mcoln3 A G 3: 145,843,019 (GRCm39) T368A probably benign Het
Nlrp4g A T 9: 124,350,452 (GRCm38) noncoding transcript Het
Nol8 A G 13: 49,807,957 (GRCm39) I58V possibly damaging Het
Or5al6 C T 2: 85,976,560 (GRCm39) V173M probably benign Het
Phactr4 A G 4: 132,098,116 (GRCm39) F384S probably benign Het
Prkg1 T A 19: 30,562,678 (GRCm39) I509L probably benign Het
Rims1 T A 1: 22,449,671 (GRCm39) D1019V probably damaging Het
Sclt1 T C 3: 41,629,754 (GRCm39) probably benign Het
Syt5 T C 7: 4,544,156 (GRCm39) T295A 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
IGL01732:Sntg2 APN 12 30,362,648 (GRCm39) missense probably damaging 0.99
IGL01987:Sntg2 APN 12 30,362,569 (GRCm39) missense probably damaging 1.00
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 2013-06-21