Incidental Mutation 'R7494:Sntg2'
| ID |
581003 |
| Institutional Source |
Beutler Lab
|
| 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 # |
R7494 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
12 |
| Chromosomal Location |
30224481-30423374 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to G
at 30279633 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Alanine
at position 340
(D340A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000021004
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021004]
[ENSMUST00000133324]
[ENSMUST00000142046]
[ENSMUST00000149710]
|
| AlphaFold |
Q925E0 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000021004
AA Change: D340A
PolyPhen 2
Score 0.892 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000021004
Gene: ENSMUSG00000020672
AA Change: D340A
| 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: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.9%
|
| 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 |
|---|
| Abca6 |
G |
A |
11: 110,099,571 (GRCm39) |
T992I |
possibly damaging |
Het |
| Adamts10 |
T |
A |
17: 33,768,352 (GRCm39) |
C841* |
probably null |
Het |
| AI661453 |
C |
T |
17: 47,779,105 (GRCm39) |
P944S |
unknown |
Het |
| Als2 |
G |
A |
1: 59,222,325 (GRCm39) |
|
probably null |
Het |
| Anapc2 |
A |
G |
2: 25,166,376 (GRCm39) |
E381G |
possibly damaging |
Het |
| Ank3 |
T |
C |
10: 69,824,756 (GRCm39) |
Y1142H |
|
Het |
| Apip |
A |
T |
2: 102,922,896 (GRCm39) |
N238I |
probably benign |
Het |
| Cblc |
A |
T |
7: 19,526,737 (GRCm39) |
V165D |
possibly damaging |
Het |
| Cep295nl |
T |
A |
11: 118,224,758 (GRCm39) |
M29L |
probably benign |
Het |
| Clec12a |
A |
G |
6: 129,330,362 (GRCm39) |
I47V |
possibly damaging |
Het |
| Dpp9 |
T |
C |
17: 56,507,619 (GRCm39) |
Y350C |
probably damaging |
Het |
| Enpp2 |
C |
T |
15: 54,773,554 (GRCm39) |
G56R |
probably damaging |
Het |
| Epsti1 |
G |
T |
14: 78,166,194 (GRCm39) |
E82D |
probably benign |
Het |
| Eri2 |
C |
A |
7: 119,385,304 (GRCm39) |
C399F |
probably damaging |
Het |
| Ern1 |
T |
C |
11: 106,298,361 (GRCm39) |
T672A |
probably damaging |
Het |
| Fbxo21 |
T |
A |
5: 118,138,388 (GRCm39) |
C445S |
possibly damaging |
Het |
| Folh1 |
G |
T |
7: 86,368,907 (GRCm39) |
T740K |
probably damaging |
Het |
| Gapt |
A |
G |
13: 110,490,262 (GRCm39) |
Y134H |
probably damaging |
Het |
| Gm19410 |
T |
C |
8: 36,262,684 (GRCm39) |
S874P |
probably damaging |
Het |
| Gm2431 |
G |
A |
7: 141,811,547 (GRCm39) |
P119L |
unknown |
Het |
| Gzmc |
G |
A |
14: 56,469,785 (GRCm39) |
Q172* |
probably null |
Het |
| Hoxa1 |
C |
A |
6: 52,134,571 (GRCm39) |
V211F |
probably damaging |
Het |
| Hyou1 |
G |
T |
9: 44,300,706 (GRCm39) |
R925L |
probably benign |
Het |
| Ift70a1 |
A |
C |
2: 75,810,242 (GRCm39) |
F614V |
probably damaging |
Het |
| Ilvbl |
A |
G |
10: 78,414,857 (GRCm39) |
Y240C |
possibly damaging |
Het |
| Lama1 |
T |
A |
17: 68,118,441 (GRCm39) |
F2551Y |
|
Het |
| Lrrtm3 |
A |
G |
10: 63,924,958 (GRCm39) |
Y70H |
probably damaging |
Het |
| Naa38 |
T |
A |
11: 69,287,126 (GRCm39) |
C69S |
probably damaging |
Het |
| Or12e7 |
T |
A |
2: 87,287,912 (GRCm39) |
N134K |
probably damaging |
Het |
| Or2t46 |
T |
C |
11: 58,472,038 (GRCm39) |
S123P |
probably damaging |
Het |
| Or8k25 |
A |
T |
2: 86,243,592 (GRCm39) |
I268N |
probably benign |
Het |
| Panx3 |
A |
G |
9: 37,572,608 (GRCm39) |
L314P |
probably damaging |
Het |
| Polr2f |
T |
C |
15: 79,028,865 (GRCm39) |
|
probably null |
Het |
| Prkcd |
C |
A |
14: 30,331,150 (GRCm39) |
R75L |
probably benign |
Het |
| Psap |
A |
C |
10: 60,135,275 (GRCm39) |
L313F |
probably benign |
Het |
| Psen1 |
T |
A |
12: 83,775,017 (GRCm39) |
C263S |
probably benign |
Het |
| Ptma |
GGAAGAAG |
GGAAGAAGAAG |
1: 86,457,261 (GRCm39) |
|
probably benign |
Het |
| Pura |
T |
A |
18: 36,420,942 (GRCm39) |
M243K |
probably damaging |
Het |
| Sec16b |
T |
C |
1: 157,388,369 (GRCm39) |
S579P |
probably benign |
Het |
| Septin1 |
T |
A |
7: 126,814,122 (GRCm39) |
E338V |
probably damaging |
Het |
| Sgms1 |
A |
G |
19: 32,107,091 (GRCm39) |
F255L |
probably benign |
Het |
| Slc4a2 |
A |
G |
5: 24,637,862 (GRCm39) |
T353A |
possibly damaging |
Het |
| Smg6 |
T |
C |
11: 74,820,449 (GRCm39) |
V240A |
probably benign |
Het |
| Sun1 |
C |
T |
5: 139,221,475 (GRCm39) |
P553S |
probably benign |
Het |
| Tas2r140 |
T |
C |
6: 40,468,254 (GRCm39) |
V28A |
probably damaging |
Het |
| Tfcp2l1 |
T |
C |
1: 118,592,686 (GRCm39) |
F323S |
probably damaging |
Het |
| Thoc2l |
T |
C |
5: 104,666,284 (GRCm39) |
Y269H |
possibly damaging |
Het |
| Tpcn2 |
G |
A |
7: 144,832,586 (GRCm39) |
T90I |
possibly damaging |
Het |
| Ttn |
A |
T |
2: 76,720,321 (GRCm39) |
Y6968* |
probably null |
Het |
| Vmn2r44 |
A |
T |
7: 8,386,122 (GRCm39) |
L39* |
probably null |
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 |
|
|
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 |
|
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'- GAGAACAAGAAAGGCTCATCTTAC -3'
(R):5'- TTACCAGTGTGTGCCTTAAAGG -3'
Sequencing Primer
(F):5'- TACTATCTCAAAATGTCCCTCAGGG -3'
(R):5'- CCAGTGTGTGCCTTAAAGGATTATTC -3'
|
| Posted On |
2019-10-17 |
Incidental Mutation