Incidental Mutation 'R2895:Sntg2'
| ID |
260758 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Sntg2
|
| Ensembl Gene |
ENSMUSG00000020672 |
| Gene Name |
syntrophin, gamma 2 |
| Synonyms |
2210008K22Rik |
| MMRRC Submission |
040483-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.099)
|
| Stock # |
R2895 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
12 |
| Chromosomal Location |
30224481-30423374 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 30276845 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Arginine
at position 402
(S402R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000021004
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021004]
[ENSMUST00000133324]
[ENSMUST00000142046]
[ENSMUST00000149710]
|
| AlphaFold |
Q925E0 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000021004
AA Change: S402R
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000021004
Gene: ENSMUSG00000020672
AA Change: S402R
| 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 |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.4%
|
| 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: 45 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca6 |
A |
G |
11: 110,093,252 (GRCm39) |
V1007A |
probably benign |
Het |
| Abhd14b |
C |
T |
9: 106,327,313 (GRCm39) |
R32C |
probably benign |
Het |
| Akirin1 |
T |
C |
4: 123,631,864 (GRCm39) |
E168G |
probably damaging |
Het |
| Apol7e |
A |
T |
15: 77,598,667 (GRCm39) |
D44V |
possibly damaging |
Het |
| Asic1 |
A |
G |
15: 99,594,483 (GRCm39) |
I310V |
probably benign |
Het |
| Atp6v0a1 |
A |
G |
11: 100,935,424 (GRCm39) |
H661R |
probably benign |
Het |
| Caskin1 |
A |
G |
17: 24,708,016 (GRCm39) |
R25G |
probably damaging |
Het |
| Cd96 |
G |
T |
16: 45,938,168 (GRCm39) |
T99K |
probably benign |
Het |
| Cep250 |
C |
A |
2: 155,834,042 (GRCm39) |
A1989D |
probably benign |
Het |
| Clasp1 |
T |
G |
1: 118,387,568 (GRCm39) |
V78G |
probably damaging |
Het |
| Cmklr2 |
T |
A |
1: 63,222,321 (GRCm39) |
I305L |
probably benign |
Het |
| Col15a1 |
T |
C |
4: 47,312,091 (GRCm39) |
V1302A |
possibly damaging |
Het |
| Crygs |
C |
T |
16: 22,624,301 (GRCm39) |
G102D |
possibly damaging |
Het |
| Cyb5r4 |
C |
T |
9: 86,922,452 (GRCm39) |
Q154* |
probably null |
Het |
| Dnah7b |
T |
C |
1: 46,178,901 (GRCm39) |
F858S |
probably damaging |
Het |
| Dysf |
G |
A |
6: 84,163,491 (GRCm39) |
|
probably null |
Het |
| H3f3a |
C |
T |
1: 180,630,703 (GRCm39) |
R117H |
probably benign |
Het |
| Igkv1-135 |
T |
A |
6: 67,587,332 (GRCm39) |
S68T |
probably benign |
Het |
| Kmt2d |
G |
A |
15: 98,741,820 (GRCm39) |
|
probably benign |
Het |
| Lonp1 |
A |
G |
17: 56,922,562 (GRCm39) |
L688P |
probably damaging |
Het |
| Lpar6 |
A |
G |
14: 73,476,716 (GRCm39) |
K226E |
probably damaging |
Het |
| Map3k19 |
T |
C |
1: 127,749,835 (GRCm39) |
D968G |
possibly damaging |
Het |
| Med16 |
G |
A |
10: 79,739,005 (GRCm39) |
|
probably null |
Het |
| Mrc2 |
G |
A |
11: 105,239,257 (GRCm39) |
|
probably null |
Het |
| Mrps7 |
A |
G |
11: 115,495,865 (GRCm39) |
M98V |
probably benign |
Het |
| Ms4a14 |
A |
T |
19: 11,281,595 (GRCm39) |
I321N |
possibly damaging |
Het |
| Muc5ac |
A |
G |
7: 141,344,877 (GRCm39) |
D116G |
possibly damaging |
Het |
| Neu1 |
A |
G |
17: 35,151,758 (GRCm39) |
D184G |
probably benign |
Het |
| Nolc1 |
CCAGCAGCAGCAGCAGCAGCAGCAGC |
CCAGCAGCAGCAGCAGCAGCAGCAGCAGC |
19: 46,069,791 (GRCm39) |
|
probably benign |
Het |
| Or11h23 |
T |
C |
14: 50,947,973 (GRCm39) |
F62S |
probably damaging |
Het |
| Pcdh19 |
CTGTCTCCTCCA |
C |
X: 132,582,057 (GRCm39) |
|
probably null |
Het |
| Pcdh19 |
TGTCTCCTCCACGTC |
TGTC |
X: 132,582,058 (GRCm39) |
|
probably null |
Het |
| Plcz1 |
A |
G |
6: 139,968,877 (GRCm39) |
I187T |
possibly damaging |
Het |
| Pot1b |
A |
T |
17: 55,994,939 (GRCm39) |
I241N |
probably damaging |
Het |
| Ppp4r3c1 |
A |
G |
X: 88,976,005 (GRCm39) |
M64T |
possibly damaging |
Het |
| Ptpre |
G |
A |
7: 135,245,587 (GRCm39) |
W11* |
probably null |
Het |
| Rgsl1 |
T |
A |
1: 153,703,294 (GRCm39) |
E154V |
probably damaging |
Het |
| Rnasel |
T |
C |
1: 153,636,522 (GRCm39) |
I634T |
probably damaging |
Het |
| Scn10a |
A |
T |
9: 119,490,467 (GRCm39) |
S492T |
probably benign |
Het |
| Sec24d |
T |
A |
3: 123,136,800 (GRCm39) |
V511E |
probably damaging |
Het |
| Slc7a1 |
A |
G |
5: 148,277,402 (GRCm39) |
I371T |
probably benign |
Het |
| Smg1 |
A |
G |
7: 117,788,366 (GRCm39) |
|
probably benign |
Het |
| Stfa3 |
C |
A |
16: 36,272,522 (GRCm39) |
L59F |
probably benign |
Het |
| Tlr3 |
T |
C |
8: 45,850,629 (GRCm39) |
E756G |
possibly damaging |
Het |
| Ttll4 |
T |
A |
1: 74,724,517 (GRCm39) |
H562Q |
possibly 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 |
|
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 |
|
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- CTGCTCCGACATGGTGACTTAG -3'
(R):5'- TAGTCTGGACTCAACCCTCC -3'
Sequencing Primer
(F):5'- GGTGACTTAGATGAAAGCCATTC -3'
(R):5'- GGACTCAACCCTCCATTCCTGAC -3'
|
| Posted On |
2015-01-23 |
Incidental Mutation