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)
|
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*
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: 29 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
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 |
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 |
|
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 |