Incidental Mutation 'IGL00914:Sntg2'
ID | 28717 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Sntg2
|
Ensembl Gene |
ENSMUSG00000020672 |
Gene Name | syntrophin, gamma 2 |
Synonyms | 2210008K22Rik |
Accession Numbers | |
Is this an essential gene? |
Probably non essential (E-score: 0.082)
|
Stock # | IGL00914
|
Quality Score | |
Status |
|
Chromosome | 12 |
Chromosomal Location | 30174482-30373375 bp(-) (GRCm38) |
Type of Mutation | intron |
DNA Base Change (assembly) |
A to G
at 30257957 bp
|
Zygosity | Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000123332
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021004]
[ENSMUST00000133324]
[ENSMUST00000142046]
[ENSMUST00000149710]
|
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 |
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 |
|
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: 17 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ahi1 |
T |
G |
10: 20,984,299 |
|
probably null |
Het |
Aipl1 |
T |
C |
11: 72,031,547 |
D112G |
probably damaging |
Het |
Casz1 |
G |
A |
4: 148,929,371 |
E131K |
probably damaging |
Het |
Chrna4 |
A |
G |
2: 181,029,031 |
Y311H |
probably damaging |
Het |
Cyp2d34 |
G |
T |
15: 82,620,714 |
N48K |
probably damaging |
Het |
Dnajc13 |
T |
A |
9: 104,212,882 |
K696I |
possibly damaging |
Het |
Fbxo30 |
T |
C |
10: 11,290,539 |
V335A |
probably benign |
Het |
Itga5 |
A |
G |
15: 103,350,372 |
|
probably null |
Het |
Morc2a |
G |
A |
11: 3,668,844 |
|
probably null |
Het |
Nek8 |
T |
C |
11: 78,173,075 |
I35V |
possibly damaging |
Het |
Olfr1453 |
A |
G |
19: 13,027,591 |
V246A |
probably damaging |
Het |
Olfr893 |
A |
G |
9: 38,209,799 |
|
probably null |
Het |
Pcyt2 |
A |
G |
11: 120,614,325 |
|
probably benign |
Het |
Sec23b |
T |
G |
2: 144,566,864 |
S156R |
probably damaging |
Het |
Shc3 |
T |
A |
13: 51,480,227 |
|
probably benign |
Het |
Srms |
T |
A |
2: 181,207,772 |
M280L |
probably benign |
Het |
Wdr60 |
A |
G |
12: 116,232,603 |
V508A |
probably damaging |
Het |
|
Other mutations in Sntg2 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00231:Sntg2
|
APN |
12 |
30276721 |
missense |
probably benign |
0.08 |
IGL00950:Sntg2
|
APN |
12 |
30312681 |
splice site |
probably benign |
|
IGL01106:Sntg2
|
APN |
12 |
30257988 |
nonsense |
probably null |
|
IGL01732:Sntg2
|
APN |
12 |
30312649 |
missense |
probably damaging |
0.99 |
IGL01987:Sntg2
|
APN |
12 |
30312570 |
missense |
probably damaging |
1.00 |
IGL02138:Sntg2
|
APN |
12 |
30307231 |
critical splice acceptor site |
probably null |
|
IGL02325:Sntg2
|
APN |
12 |
30195543 |
missense |
probably benign |
0.08 |
IGL02619:Sntg2
|
APN |
12 |
30267026 |
splice site |
probably null |
|
IGL02797:Sntg2
|
APN |
12 |
30226892 |
missense |
possibly damaging |
0.93 |
IGL03176:Sntg2
|
APN |
12 |
30267023 |
splice site |
probably benign |
|
PIT4445001:Sntg2
|
UTSW |
12 |
30312572 |
missense |
probably damaging |
1.00 |
R0126:Sntg2
|
UTSW |
12 |
30201261 |
splice site |
probably benign |
|
R0309:Sntg2
|
UTSW |
12 |
30226773 |
missense |
probably benign |
0.03 |
R0614:Sntg2
|
UTSW |
12 |
30257978 |
missense |
possibly damaging |
0.87 |
R1267:Sntg2
|
UTSW |
12 |
30245128 |
missense |
probably benign |
0.42 |
R1546:Sntg2
|
UTSW |
12 |
30288296 |
missense |
probably damaging |
1.00 |
R1696:Sntg2
|
UTSW |
12 |
30267063 |
missense |
probably damaging |
1.00 |
R1708:Sntg2
|
UTSW |
12 |
30373180 |
missense |
possibly damaging |
0.81 |
R1867:Sntg2
|
UTSW |
12 |
30236651 |
missense |
probably benign |
|
R2256:Sntg2
|
UTSW |
12 |
30236688 |
nonsense |
probably null |
|
R2895:Sntg2
|
UTSW |
12 |
30226846 |
missense |
probably benign |
0.00 |
R3401:Sntg2
|
UTSW |
12 |
30288172 |
splice site |
probably benign |
|
R3522:Sntg2
|
UTSW |
12 |
30312567 |
missense |
probably damaging |
0.99 |
R4771:Sntg2
|
UTSW |
12 |
30276659 |
splice site |
probably null |
|
R4814:Sntg2
|
UTSW |
12 |
30373268 |
unclassified |
probably benign |
|
R5554:Sntg2
|
UTSW |
12 |
30258041 |
missense |
probably benign |
0.08 |
R6056:Sntg2
|
UTSW |
12 |
30312561 |
missense |
probably benign |
0.06 |
R6328:Sntg2
|
UTSW |
12 |
30258014 |
missense |
probably damaging |
1.00 |
R6373:Sntg2
|
UTSW |
12 |
30258041 |
missense |
probably benign |
0.08 |
R7314:Sntg2
|
UTSW |
12 |
30267108 |
missense |
probably benign |
0.01 |
R7494:Sntg2
|
UTSW |
12 |
30229634 |
missense |
possibly damaging |
0.89 |
R7571:Sntg2
|
UTSW |
12 |
30175202 |
missense |
probably damaging |
0.99 |
R7749:Sntg2
|
UTSW |
12 |
30226911 |
missense |
probably benign |
0.01 |
|
Posted On | 2013-04-17 |