Incidental Mutation 'R1267:Sntg2'
ID |
151193 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Sntg2
|
Ensembl Gene |
ENSMUSG00000020672 |
Gene Name |
syntrophin, gamma 2 |
Synonyms |
2210008K22Rik |
MMRRC Submission |
039334-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.099)
|
Stock # |
R1267 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
12 |
Chromosomal Location |
30224481-30423374 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 30295127 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Methionine
at position 280
(T280M)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000021004
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021004]
[ENSMUST00000133324]
[ENSMUST00000142046]
[ENSMUST00000149710]
|
AlphaFold |
Q925E0 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000021004
AA Change: T280M
PolyPhen 2
Score 0.417 (Sensitivity: 0.89; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000021004 Gene: ENSMUSG00000020672 AA Change: T280M
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
|
SMART Domains |
Protein: ENSMUSP00000123332 Gene: ENSMUSG00000020672
Domain | Start | End | E-Value | Type |
PDZ
|
82 |
156 |
1.83e-17 |
SMART |
low complexity region
|
159 |
183 |
N/A |
INTRINSIC |
|
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.3%
- 10x: 96.3%
- 20x: 92.6%
|
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: 12 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Actr1b |
G |
A |
1: 36,739,185 (GRCm39) |
S368F |
probably benign |
Het |
Asb4 |
T |
A |
6: 5,423,747 (GRCm39) |
V298E |
probably damaging |
Het |
Ddx28 |
A |
G |
8: 106,736,549 (GRCm39) |
V503A |
probably damaging |
Het |
Dock1 |
T |
C |
7: 134,348,165 (GRCm39) |
Y259H |
probably damaging |
Het |
Ltbp1 |
A |
G |
17: 75,532,280 (GRCm39) |
Q118R |
possibly damaging |
Het |
Nrbp1 |
A |
G |
5: 31,407,934 (GRCm39) |
K459R |
probably benign |
Het |
Pramel21 |
G |
A |
4: 143,342,304 (GRCm39) |
G137E |
possibly damaging |
Het |
Shf |
G |
A |
2: 122,199,163 (GRCm39) |
P51S |
probably damaging |
Het |
Stat5b |
C |
T |
11: 100,689,419 (GRCm39) |
V227M |
probably benign |
Het |
Taf4 |
A |
G |
2: 179,571,117 (GRCm39) |
I732T |
possibly damaging |
Het |
Tenm2 |
C |
T |
11: 35,954,004 (GRCm39) |
G1236R |
possibly damaging |
Het |
Thsd7b |
T |
A |
1: 129,556,577 (GRCm39) |
|
probably null |
Het |
|
Other mutations in Sntg2 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH 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 |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- CCAGATGCCTTCAGTGAGACAGTTTAG -3'
(R):5'- GCTTTTCCCAAGTGTGTCACAGC -3'
Sequencing Primer
(F):5'- gagagagagagagagagagagag -3'
(R):5'- CTGAGCATAGCACAGCAGG -3'
|
Posted On |
2014-01-29 |