Incidental Mutation 'IGL01987:Sntg2'
ID |
181944 |
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 # |
IGL01987
|
Quality Score |
|
Status
|
|
Chromosome |
12 |
Chromosomal Location |
30224481-30423374 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 30362569 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Alanine
at position 59
(V59A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000123332
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021004]
[ENSMUST00000133324]
[ENSMUST00000142046]
[ENSMUST00000149710]
|
AlphaFold |
Q925E0 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000021004
AA Change: V59A
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000021004 Gene: ENSMUSG00000020672 AA Change: V59A
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 |
possibly damaging
Transcript: ENSMUST00000133324
AA Change: V59A
PolyPhen 2
Score 0.904 (Sensitivity: 0.82; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000114245 Gene: ENSMUSG00000020672 AA Change: V59A
Domain | Start | End | E-Value | Type |
Blast:PH
|
13 |
70 |
9e-24 |
BLAST |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000142046
AA Change: V59A
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000115942 Gene: ENSMUSG00000020672 AA Change: V59A
Domain | Start | End | E-Value | Type |
Blast:PH
|
13 |
89 |
1e-23 |
BLAST |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000149710
AA Change: V59A
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000123332 Gene: ENSMUSG00000020672 AA Change: V59A
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
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000218489
|
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: 42 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca17 |
A |
G |
17: 24,565,202 (GRCm39) |
F77L |
probably benign |
Het |
Abca8a |
A |
G |
11: 109,964,981 (GRCm39) |
F439L |
possibly damaging |
Het |
Abcb5 |
A |
T |
12: 118,891,093 (GRCm39) |
V468D |
probably damaging |
Het |
Adgrb3 |
A |
T |
1: 25,140,512 (GRCm39) |
|
probably null |
Het |
Ajm1 |
T |
C |
2: 25,467,970 (GRCm39) |
E647G |
possibly damaging |
Het |
Ankrd28 |
T |
C |
14: 31,500,931 (GRCm39) |
D50G |
probably damaging |
Het |
Cacna1b |
A |
T |
2: 24,587,579 (GRCm39) |
|
probably null |
Het |
Capn9 |
A |
G |
8: 125,302,965 (GRCm39) |
S28G |
probably benign |
Het |
Cdk5rap2 |
A |
G |
4: 70,220,319 (GRCm39) |
|
probably null |
Het |
Dmtf1l |
C |
T |
X: 125,722,098 (GRCm39) |
E336K |
possibly damaging |
Het |
E2f5 |
T |
C |
3: 14,652,363 (GRCm39) |
|
probably benign |
Het |
Fam135b |
A |
G |
15: 71,333,964 (GRCm39) |
Y1077H |
probably benign |
Het |
Fap |
A |
G |
2: 62,359,020 (GRCm39) |
Y428H |
probably damaging |
Het |
Fasn |
A |
G |
11: 120,708,899 (GRCm39) |
S595P |
probably damaging |
Het |
Flnb |
T |
C |
14: 7,922,748 (GRCm38) |
|
probably null |
Het |
Fzd3 |
A |
T |
14: 65,477,347 (GRCm39) |
V69E |
probably damaging |
Het |
Gcdh |
A |
T |
8: 85,620,110 (GRCm39) |
|
probably benign |
Het |
Ido1 |
A |
G |
8: 25,083,159 (GRCm39) |
Y89H |
probably benign |
Het |
Itga2 |
G |
A |
13: 114,984,482 (GRCm39) |
Q1010* |
probably null |
Het |
Man1a2 |
T |
C |
3: 100,551,873 (GRCm39) |
Y280C |
probably damaging |
Het |
Mgat4d |
T |
C |
8: 84,094,731 (GRCm39) |
I256T |
probably damaging |
Het |
Mmrn1 |
A |
G |
6: 60,921,557 (GRCm39) |
K5E |
probably benign |
Het |
Ncapd2 |
A |
G |
6: 125,162,804 (GRCm39) |
|
probably benign |
Het |
Or2at4 |
A |
T |
7: 99,384,478 (GRCm39) |
I43F |
probably damaging |
Het |
Or7g18 |
A |
T |
9: 18,787,003 (GRCm39) |
I127L |
probably benign |
Het |
Pcnx3 |
T |
C |
19: 5,727,507 (GRCm39) |
D644G |
probably damaging |
Het |
Pole |
T |
C |
5: 110,485,098 (GRCm39) |
V2280A |
probably benign |
Het |
Ptprf |
T |
A |
4: 118,134,567 (GRCm39) |
M24L |
probably benign |
Het |
Sbno1 |
T |
C |
5: 124,542,282 (GRCm39) |
N337S |
probably damaging |
Het |
Serpinc1 |
T |
A |
1: 160,820,977 (GRCm39) |
F141L |
probably damaging |
Het |
Shroom3 |
C |
A |
5: 93,090,048 (GRCm39) |
R933S |
probably damaging |
Het |
Slc24a2 |
G |
A |
4: 87,146,033 (GRCm39) |
P7L |
probably benign |
Het |
Slc25a32 |
G |
A |
15: 38,961,002 (GRCm39) |
T227I |
probably damaging |
Het |
Slc7a1 |
A |
G |
5: 148,274,002 (GRCm39) |
F396L |
possibly damaging |
Het |
Smok2a |
G |
A |
17: 13,445,377 (GRCm39) |
R318H |
probably benign |
Het |
Sspo |
A |
G |
6: 48,454,558 (GRCm39) |
|
probably null |
Het |
Tnfrsf1a |
G |
A |
6: 125,333,827 (GRCm39) |
V27I |
probably damaging |
Het |
Tnpo3 |
T |
C |
6: 29,560,200 (GRCm39) |
T648A |
probably benign |
Het |
Tpbg |
A |
G |
9: 85,727,252 (GRCm39) |
Y407C |
probably damaging |
Het |
Wbp2nl |
A |
T |
15: 82,192,762 (GRCm39) |
M149L |
probably benign |
Het |
Yif1a |
T |
A |
19: 5,141,625 (GRCm39) |
M181K |
probably benign |
Het |
Zkscan8 |
A |
G |
13: 21,710,729 (GRCm39) |
L127S |
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 |
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 |
2014-05-07 |