Incidental Mutation 'IGL00950:Sntg2'
| ID |
28761 |
| 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 # |
IGL00950
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
12 |
| Chromosomal Location |
30224481-30423374 bp(-) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
T to C
at 30362680 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| 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
|
| SMART Domains |
Protein: ENSMUSP00000021004
Gene: ENSMUSG00000020672
| 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 |
noncoding transcript
Transcript: ENSMUST00000125530
|
| 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 |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000156953
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000218489
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000218723
|
| 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: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts17 |
T |
C |
7: 66,770,660 (GRCm39) |
V923A |
possibly damaging |
Het |
| Als2 |
G |
A |
1: 59,254,541 (GRCm39) |
A272V |
probably benign |
Het |
| Aoc1l1 |
A |
C |
6: 48,955,065 (GRCm39) |
N635T |
possibly damaging |
Het |
| Chrne |
C |
T |
11: 70,509,983 (GRCm39) |
|
probably benign |
Het |
| Dhx34 |
C |
T |
7: 15,933,751 (GRCm39) |
R947H |
probably damaging |
Het |
| Dnah7b |
A |
T |
1: 46,253,482 (GRCm39) |
M1796L |
probably benign |
Het |
| Dstyk |
C |
T |
1: 132,387,726 (GRCm39) |
T820I |
probably damaging |
Het |
| Eif4g1 |
A |
G |
16: 20,502,378 (GRCm39) |
K942E |
probably damaging |
Het |
| Fbn1 |
C |
T |
2: 125,200,743 (GRCm39) |
G1318E |
probably damaging |
Het |
| Galnt5 |
T |
C |
2: 57,889,144 (GRCm39) |
V248A |
probably benign |
Het |
| Gcnt4 |
A |
G |
13: 97,083,064 (GRCm39) |
Y120C |
probably damaging |
Het |
| Gdf5 |
A |
G |
2: 155,783,626 (GRCm39) |
V442A |
probably damaging |
Het |
| H2-Q4 |
A |
C |
17: 35,601,834 (GRCm39) |
D232A |
probably damaging |
Het |
| Hnrnpm |
C |
A |
17: 33,868,876 (GRCm39) |
R517L |
probably damaging |
Het |
| Htt |
A |
G |
5: 35,048,785 (GRCm39) |
I2423V |
probably benign |
Het |
| Itk |
T |
A |
11: 46,258,723 (GRCm39) |
I60F |
probably damaging |
Het |
| Izumo1 |
T |
A |
7: 45,272,295 (GRCm39) |
C25* |
probably null |
Het |
| Katnip |
T |
A |
7: 125,442,393 (GRCm39) |
D767E |
probably benign |
Het |
| Lamc1 |
G |
T |
1: 153,116,241 (GRCm39) |
P980H |
probably damaging |
Het |
| Ncor2 |
C |
A |
5: 125,163,954 (GRCm39) |
R367L |
unknown |
Het |
| Pcdhb17 |
A |
T |
18: 37,619,059 (GRCm39) |
|
probably null |
Het |
| Rnf123 |
C |
A |
9: 107,944,594 (GRCm39) |
|
probably null |
Het |
| Sh3bgrl2 |
T |
A |
9: 83,459,543 (GRCm39) |
F34I |
probably damaging |
Het |
| Sharpin |
T |
C |
15: 76,232,424 (GRCm39) |
E171G |
probably damaging |
Het |
| Slc22a30 |
A |
T |
19: 8,313,152 (GRCm39) |
D544E |
probably benign |
Het |
| Slc36a1 |
T |
C |
11: 55,116,954 (GRCm39) |
C328R |
probably damaging |
Het |
| Sox13 |
A |
G |
1: 133,314,844 (GRCm39) |
V272A |
probably benign |
Het |
| Sppl2b |
T |
G |
10: 80,699,928 (GRCm39) |
L37R |
probably damaging |
Het |
| Strip1 |
T |
A |
3: 107,528,761 (GRCm39) |
S390C |
probably damaging |
Het |
| Stxbp5 |
T |
A |
10: 9,684,346 (GRCm39) |
|
probably benign |
Het |
| Supt16 |
T |
C |
14: 52,399,255 (GRCm39) |
E1008G |
possibly damaging |
Het |
| Vmn1r174 |
C |
A |
7: 23,453,911 (GRCm39) |
H192Q |
possibly damaging |
Het |
| Vsir |
C |
T |
10: 60,200,063 (GRCm39) |
Q154* |
probably null |
Het |
| Xrn2 |
A |
T |
2: 146,870,066 (GRCm39) |
R252* |
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 |
|
|
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 |
2013-04-17 |
Incidental Mutation