Incidental Mutation 'IGL02138:Sntg2'
| ID |
281434 |
| 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: 0.084)
|
| Stock # |
IGL02138
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
12 |
| Chromosomal Location |
30224481-30423374 bp(-) (GRCm39) |
| Type of Mutation |
critical splice acceptor site |
| DNA Base Change (assembly) |
T to A
at 30357230 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| 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
|
| 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: 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: 50 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 3425401B19Rik |
T |
G |
14: 32,384,672 (GRCm39) |
D431A |
possibly damaging |
Het |
| Adgrb1 |
T |
C |
15: 74,401,631 (GRCm39) |
M209T |
probably damaging |
Het |
| Ano8 |
T |
C |
8: 71,937,486 (GRCm39) |
H86R |
probably damaging |
Het |
| Camk1d |
G |
T |
2: 5,449,895 (GRCm39) |
Y87* |
probably null |
Het |
| Capza3 |
A |
G |
6: 139,987,872 (GRCm39) |
D157G |
probably benign |
Het |
| Ckmt2 |
A |
T |
13: 92,009,947 (GRCm39) |
D124E |
probably benign |
Het |
| Col14a1 |
C |
A |
15: 55,284,231 (GRCm39) |
Q831K |
unknown |
Het |
| Copb2 |
C |
T |
9: 98,469,605 (GRCm39) |
P829S |
probably benign |
Het |
| Dlg5 |
A |
G |
14: 24,208,419 (GRCm39) |
V929A |
probably benign |
Het |
| Dolk |
A |
G |
2: 30,175,991 (GRCm39) |
V18A |
probably benign |
Het |
| Ecm2 |
G |
T |
13: 49,676,304 (GRCm39) |
L340F |
probably damaging |
Het |
| Hacl1 |
A |
G |
14: 31,352,940 (GRCm39) |
L149P |
probably benign |
Het |
| Higd2a |
A |
T |
13: 54,738,235 (GRCm39) |
|
probably null |
Het |
| Hspa12a |
A |
T |
19: 58,816,730 (GRCm39) |
S28R |
probably benign |
Het |
| Igkv5-37 |
A |
G |
6: 69,940,435 (GRCm39) |
Y70H |
probably damaging |
Het |
| Iho1 |
G |
A |
9: 108,283,820 (GRCm39) |
T208I |
probably benign |
Het |
| Kif11 |
T |
C |
19: 37,373,057 (GRCm39) |
V92A |
probably damaging |
Het |
| Kif26a |
T |
C |
12: 112,141,284 (GRCm39) |
S696P |
probably damaging |
Het |
| Kng1 |
A |
T |
16: 22,886,558 (GRCm39) |
N168Y |
probably damaging |
Het |
| Krt26 |
C |
T |
11: 99,224,471 (GRCm39) |
R349Q |
probably benign |
Het |
| Lepr |
A |
G |
4: 101,625,264 (GRCm39) |
D473G |
probably damaging |
Het |
| Lipt1 |
G |
A |
1: 37,914,867 (GRCm39) |
E308K |
possibly damaging |
Het |
| Luc7l3 |
A |
T |
11: 94,194,792 (GRCm39) |
F76Y |
probably benign |
Het |
| Mapk1 |
A |
G |
16: 16,841,316 (GRCm39) |
I163V |
probably benign |
Het |
| Matn3 |
A |
G |
12: 9,017,638 (GRCm39) |
E430G |
possibly damaging |
Het |
| Med13 |
A |
T |
11: 86,177,591 (GRCm39) |
S1502T |
probably damaging |
Het |
| Mlf1 |
A |
T |
3: 67,307,046 (GRCm39) |
H237L |
probably benign |
Het |
| Mss51 |
A |
C |
14: 20,534,923 (GRCm39) |
Y282* |
probably null |
Het |
| Ncoa3 |
A |
G |
2: 165,897,182 (GRCm39) |
T658A |
probably benign |
Het |
| Or1p1c |
A |
T |
11: 74,160,544 (GRCm39) |
M110L |
probably benign |
Het |
| Or7d11 |
A |
T |
9: 19,966,196 (GRCm39) |
S188T |
probably benign |
Het |
| Phrf1 |
T |
A |
7: 140,839,196 (GRCm39) |
|
probably benign |
Het |
| Ppme1 |
C |
T |
7: 99,983,139 (GRCm39) |
M335I |
probably damaging |
Het |
| Ror2 |
C |
T |
13: 53,264,764 (GRCm39) |
S764N |
probably damaging |
Het |
| Spryd3 |
T |
C |
15: 102,027,354 (GRCm39) |
|
probably benign |
Het |
| Srpx |
A |
G |
X: 9,933,662 (GRCm39) |
|
probably null |
Het |
| St8sia1 |
G |
T |
6: 142,909,504 (GRCm39) |
|
probably benign |
Het |
| Stab1 |
A |
G |
14: 30,865,470 (GRCm39) |
|
probably null |
Het |
| Sycp2 |
A |
T |
2: 178,000,047 (GRCm39) |
S976R |
probably benign |
Het |
| Sycp2 |
T |
A |
2: 178,043,783 (GRCm39) |
K108* |
probably null |
Het |
| Tagap1 |
T |
C |
17: 7,223,485 (GRCm39) |
T404A |
probably damaging |
Het |
| Tg |
C |
T |
15: 66,589,082 (GRCm39) |
T21I |
probably benign |
Het |
| Tlr4 |
A |
T |
4: 66,759,202 (GRCm39) |
Y665F |
probably damaging |
Het |
| Tmc8 |
T |
G |
11: 117,682,081 (GRCm39) |
S525A |
probably benign |
Het |
| Tor4a |
A |
T |
2: 25,084,810 (GRCm39) |
D364E |
probably benign |
Het |
| Trim44 |
T |
C |
2: 102,211,253 (GRCm39) |
I236V |
probably benign |
Het |
| Ube2o |
A |
G |
11: 116,434,226 (GRCm39) |
|
probably benign |
Het |
| Wdr38 |
A |
T |
2: 38,888,424 (GRCm39) |
N7I |
probably damaging |
Het |
| Xirp2 |
A |
T |
2: 67,347,300 (GRCm39) |
R3180S |
probably benign |
Het |
| Zfp335 |
A |
G |
2: 164,735,724 (GRCm39) |
C1077R |
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 |
|
|
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 |
|
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 |
2015-04-16 |
Incidental Mutation