Incidental Mutation 'IGL00231:Sntg2'
ID |
2193 |
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)
|
Stock # |
IGL00231
|
Quality Score |
|
Status
|
|
Chromosome |
12 |
Chromosomal Location |
30224481-30423374 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 30326720 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glycine
at position 147
(D147G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000123332
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021004]
[ENSMUST00000133324]
[ENSMUST00000142046]
[ENSMUST00000149710]
|
AlphaFold |
Q925E0 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000021004
AA Change: D147G
PolyPhen 2
Score 0.041 (Sensitivity: 0.94; Specificity: 0.83)
|
SMART Domains |
Protein: ENSMUSP00000021004 Gene: ENSMUSG00000020672 AA Change: D147G
Domain | Start | End | E-Value | Type |
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
Domain | Start | End | E-Value | Type |
Blast:PH
|
13 |
70 |
9e-24 |
BLAST |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000142046
|
SMART Domains |
Protein: ENSMUSP00000115942 Gene: ENSMUSG00000020672
Domain | Start | End | E-Value | Type |
Blast:PH
|
13 |
89 |
1e-23 |
BLAST |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000149710
AA Change: D147G
PolyPhen 2
Score 0.075 (Sensitivity: 0.93; Specificity: 0.85)
|
SMART Domains |
Protein: ENSMUSP00000123332 Gene: ENSMUSG00000020672 AA Change: D147G
Domain | Start | End | E-Value | Type |
PDZ
|
82 |
156 |
1.83e-17 |
SMART |
low complexity region
|
159 |
183 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000156953
|
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: 38 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adamtsl1 |
A |
G |
4: 86,303,877 (GRCm39) |
T1346A |
probably benign |
Het |
Ccdc102a |
T |
C |
8: 95,638,266 (GRCm39) |
|
probably null |
Het |
Cgrrf1 |
T |
C |
14: 47,069,779 (GRCm39) |
F16S |
probably damaging |
Het |
Clybl |
T |
C |
14: 122,616,610 (GRCm39) |
|
probably benign |
Het |
Cubn |
T |
C |
2: 13,386,660 (GRCm39) |
E1535G |
possibly damaging |
Het |
Dmrtc1b |
C |
A |
X: 101,757,233 (GRCm39) |
P226H |
probably benign |
Het |
Dnah17 |
G |
A |
11: 117,979,040 (GRCm39) |
A1784V |
possibly damaging |
Het |
Dnajc24 |
A |
G |
2: 105,832,348 (GRCm39) |
Y12H |
probably damaging |
Het |
Drd1 |
T |
C |
13: 54,207,486 (GRCm39) |
T236A |
probably benign |
Het |
Ep400 |
A |
T |
5: 110,835,707 (GRCm39) |
V1934D |
unknown |
Het |
Flt1 |
A |
G |
5: 147,517,110 (GRCm39) |
|
probably null |
Het |
Fut8 |
A |
G |
12: 77,495,262 (GRCm39) |
K284R |
probably benign |
Het |
Hcn1 |
A |
G |
13: 118,112,529 (GRCm39) |
E831G |
probably damaging |
Het |
Inpp5j |
A |
T |
11: 3,450,009 (GRCm39) |
|
probably benign |
Het |
Insig2 |
A |
G |
1: 121,233,676 (GRCm39) |
Y213H |
probably damaging |
Het |
Kcnh4 |
G |
A |
11: 100,647,821 (GRCm39) |
|
probably benign |
Het |
Kifc2 |
T |
A |
15: 76,551,662 (GRCm39) |
|
probably benign |
Het |
Krt75 |
T |
C |
15: 101,481,081 (GRCm39) |
E231G |
probably benign |
Het |
Men1 |
G |
A |
19: 6,387,237 (GRCm39) |
|
probably null |
Het |
Mfsd4b2 |
T |
A |
10: 39,801,057 (GRCm39) |
|
probably benign |
Het |
Micall2 |
T |
A |
5: 139,703,311 (GRCm39) |
|
probably null |
Het |
Or10ag2 |
A |
G |
2: 87,248,910 (GRCm39) |
T173A |
possibly damaging |
Het |
Or8s5 |
C |
T |
15: 98,238,054 (GRCm39) |
S256N |
possibly damaging |
Het |
Osbp2 |
C |
T |
11: 3,676,561 (GRCm39) |
D287N |
possibly damaging |
Het |
Plin1 |
A |
G |
7: 79,376,408 (GRCm39) |
|
probably benign |
Het |
Ppl |
T |
C |
16: 4,907,409 (GRCm39) |
N962S |
probably benign |
Het |
Psg25 |
C |
T |
7: 18,260,106 (GRCm39) |
|
probably benign |
Het |
Ptprt |
A |
T |
2: 161,652,544 (GRCm39) |
D601E |
probably benign |
Het |
S100a7l2 |
A |
G |
3: 90,995,665 (GRCm39) |
M79T |
probably benign |
Het |
Sbno2 |
C |
A |
10: 79,900,340 (GRCm39) |
|
probably benign |
Het |
Sox4 |
C |
A |
13: 29,136,956 (GRCm39) |
G17W |
probably damaging |
Het |
Stam2 |
T |
A |
2: 52,596,418 (GRCm39) |
I307F |
possibly damaging |
Het |
Tbx21 |
T |
G |
11: 96,989,749 (GRCm39) |
E481A |
probably damaging |
Het |
Tsc2 |
G |
A |
17: 24,827,081 (GRCm39) |
T876I |
probably damaging |
Het |
Wdfy4 |
T |
C |
14: 32,824,496 (GRCm39) |
I1308V |
possibly damaging |
Het |
Wdr37 |
C |
T |
13: 8,870,541 (GRCm39) |
V143I |
probably damaging |
Het |
Wdr43 |
T |
G |
17: 71,959,809 (GRCm39) |
Y550D |
probably damaging |
Het |
Wnk4 |
A |
G |
11: 101,159,574 (GRCm39) |
D593G |
possibly damaging |
Het |
|
Other mutations in Sntg2 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
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 |
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 |
2011-12-09 |