Incidental Mutation 'R5658:Sntb1'
| ID |
443946 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Sntb1
|
| Ensembl Gene |
ENSMUSG00000060429 |
| Gene Name |
syntrophin, basic 1 |
| Synonyms |
beta1-Syntrophin, 59-1 DAP |
| MMRRC Submission |
043172-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.093)
|
| Stock # |
R5658 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
15 |
| Chromosomal Location |
55499784-55770345 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 55655472 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Tyrosine
at position 248
(C248Y)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000105829
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000039769]
[ENSMUST00000110200]
|
| AlphaFold |
Q99L88 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000039769
AA Change: C248Y
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000041294
Gene: ENSMUSG00000060429
AA Change: C248Y
| Domain | Start | End | E-Value | Type |
|---|
|
PH
|
19 |
299 |
5.14e0 |
SMART |
|
PDZ
|
120 |
194 |
4.5e-17 |
SMART |
|
PH
|
322 |
434 |
2.81e-8 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000110200
AA Change: C248Y
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000105829
Gene: ENSMUSG00000060429
AA Change: C248Y
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
19 |
N/A |
INTRINSIC |
|
PDZ
|
120 |
194 |
4.5e-17 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000140574
|
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.8%
- 10x: 97.5%
- 20x: 95.8%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Dystrophin is a large, rod-like cytoskeletal protein found at the inner surface of muscle fibers. Dystrophin is missing in Duchenne Muscular Dystrophy patients and is present in reduced amounts in Becker Muscular Dystrophy patients. The protein encoded by this gene is a peripheral membrane protein found associated with dystrophin and dystrophin-related proteins. This gene is a member of the syntrophin gene family, which contains at least two other structurally-related genes. [provided by RefSeq, Jul 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930522H14Rik |
A |
G |
4: 109,362,644 (GRCm39) |
L221P |
probably damaging |
Het |
| Art2b |
A |
G |
7: 101,229,569 (GRCm39) |
V110A |
probably damaging |
Het |
| Bccip |
A |
G |
7: 133,319,349 (GRCm39) |
I147V |
possibly damaging |
Het |
| Bcl9l |
G |
T |
9: 44,420,466 (GRCm39) |
G1254W |
probably damaging |
Het |
| Cep68 |
C |
T |
11: 20,191,885 (GRCm39) |
|
probably null |
Het |
| Chst5 |
A |
G |
8: 112,617,422 (GRCm39) |
V66A |
probably damaging |
Het |
| F5 |
C |
A |
1: 164,019,907 (GRCm39) |
T794K |
probably damaging |
Het |
| Faf2 |
T |
C |
13: 54,789,347 (GRCm39) |
V55A |
probably benign |
Het |
| Gm7535 |
T |
A |
17: 18,131,582 (GRCm39) |
|
probably benign |
Het |
| Itpr3 |
T |
C |
17: 27,326,852 (GRCm39) |
V1471A |
possibly damaging |
Het |
| Kbtbd4 |
T |
A |
2: 90,736,423 (GRCm39) |
S145T |
probably benign |
Het |
| Kcnh3 |
C |
T |
15: 99,139,957 (GRCm39) |
P948S |
possibly damaging |
Het |
| Kcnq1 |
G |
A |
7: 142,917,432 (GRCm39) |
|
probably null |
Het |
| Kng2 |
T |
C |
16: 22,815,770 (GRCm39) |
|
probably null |
Het |
| Krt9 |
A |
G |
11: 100,081,593 (GRCm39) |
I312T |
probably damaging |
Het |
| Lactb2 |
T |
A |
1: 13,697,642 (GRCm39) |
H254L |
probably benign |
Het |
| Lama5 |
A |
T |
2: 179,850,069 (GRCm39) |
Y187* |
probably null |
Het |
| Ldc1 |
A |
G |
4: 130,114,234 (GRCm39) |
V61A |
probably benign |
Het |
| Maf1 |
T |
C |
15: 76,237,420 (GRCm39) |
V154A |
possibly damaging |
Het |
| Mlh1 |
A |
G |
9: 111,076,448 (GRCm39) |
V303A |
probably damaging |
Het |
| Mrgprh |
A |
T |
17: 13,096,646 (GRCm39) |
K295N |
possibly damaging |
Het |
| Mtrr |
G |
T |
13: 68,717,034 (GRCm39) |
A393D |
possibly damaging |
Het |
| Myef2l |
C |
T |
3: 10,153,837 (GRCm39) |
S202F |
probably damaging |
Het |
| Nebl |
A |
G |
2: 17,353,663 (GRCm39) |
Y963H |
probably damaging |
Het |
| Ormdl1 |
T |
C |
1: 53,348,093 (GRCm39) |
V145A |
probably damaging |
Het |
| Plekha6 |
G |
C |
1: 133,200,045 (GRCm39) |
R208P |
possibly damaging |
Het |
| Pmpcb |
A |
G |
5: 21,943,999 (GRCm39) |
T78A |
probably damaging |
Het |
| Ptprz1 |
G |
A |
6: 23,016,188 (GRCm39) |
R1677Q |
probably damaging |
Het |
| Rad54l2 |
ACCTCCTCCTCCTCCTCCTCCTCCTC |
ACCTCCTCCTCCTCCTCCTCCTC |
9: 106,631,191 (GRCm39) |
|
probably benign |
Het |
| Ryr1 |
A |
T |
7: 28,790,514 (GRCm39) |
|
probably null |
Het |
| Sh3bp2 |
T |
A |
5: 34,714,291 (GRCm39) |
I162N |
probably damaging |
Het |
| Slc38a10 |
C |
T |
11: 119,996,218 (GRCm39) |
A960T |
probably benign |
Het |
| Sowahc |
G |
A |
10: 59,059,049 (GRCm39) |
R395H |
possibly damaging |
Het |
| Tbc1d5 |
T |
C |
17: 51,120,869 (GRCm39) |
R416G |
probably benign |
Het |
| Tnfaip6 |
A |
T |
2: 51,941,047 (GRCm39) |
Y196F |
possibly damaging |
Het |
| Tpo |
A |
G |
12: 30,105,137 (GRCm39) |
L911P |
possibly damaging |
Het |
| Try5 |
T |
C |
6: 41,289,361 (GRCm39) |
R72G |
probably damaging |
Het |
| Vwa8 |
T |
C |
14: 79,219,838 (GRCm39) |
|
probably null |
Het |
|
| Other mutations in Sntb1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02056:Sntb1
|
APN |
15 |
55,511,435 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
IGL02732:Sntb1
|
APN |
15 |
55,655,596 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
IGL02965:Sntb1
|
APN |
15 |
55,506,081 (GRCm39) |
nonsense |
probably null |
|
|
IGL03084:Sntb1
|
APN |
15 |
55,655,487 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL03286:Sntb1
|
APN |
15 |
55,655,442 (GRCm39) |
missense |
possibly damaging |
0.59 |
|
R0117:Sntb1
|
UTSW |
15 |
55,769,749 (GRCm39) |
missense |
probably benign |
|
|
R0178:Sntb1
|
UTSW |
15 |
55,769,540 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0465:Sntb1
|
UTSW |
15 |
55,612,672 (GRCm39) |
missense |
probably benign |
0.02 |
|
R0626:Sntb1
|
UTSW |
15 |
55,506,179 (GRCm39) |
missense |
probably benign |
0.20 |
|
R0726:Sntb1
|
UTSW |
15 |
55,539,752 (GRCm39) |
missense |
probably benign |
|
|
R1125:Sntb1
|
UTSW |
15 |
55,612,676 (GRCm39) |
missense |
probably benign |
|
|
R1443:Sntb1
|
UTSW |
15 |
55,511,351 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1888:Sntb1
|
UTSW |
15 |
55,612,745 (GRCm39) |
nonsense |
probably null |
|
|
R1888:Sntb1
|
UTSW |
15 |
55,612,745 (GRCm39) |
nonsense |
probably null |
|
|
R2208:Sntb1
|
UTSW |
15 |
55,769,714 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R2426:Sntb1
|
UTSW |
15 |
55,769,575 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3721:Sntb1
|
UTSW |
15 |
55,506,214 (GRCm39) |
missense |
probably benign |
0.10 |
|
R4370:Sntb1
|
UTSW |
15 |
55,655,487 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4706:Sntb1
|
UTSW |
15 |
55,612,670 (GRCm39) |
missense |
probably benign |
0.09 |
|
R4883:Sntb1
|
UTSW |
15 |
55,506,198 (GRCm39) |
nonsense |
probably null |
|
|
R5223:Sntb1
|
UTSW |
15 |
55,506,191 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5242:Sntb1
|
UTSW |
15 |
55,506,191 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5270:Sntb1
|
UTSW |
15 |
55,506,191 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5313:Sntb1
|
UTSW |
15 |
55,506,191 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5314:Sntb1
|
UTSW |
15 |
55,506,191 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5316:Sntb1
|
UTSW |
15 |
55,506,191 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5336:Sntb1
|
UTSW |
15 |
55,506,191 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5337:Sntb1
|
UTSW |
15 |
55,506,191 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5396:Sntb1
|
UTSW |
15 |
55,506,191 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5398:Sntb1
|
UTSW |
15 |
55,506,191 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5427:Sntb1
|
UTSW |
15 |
55,506,191 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5428:Sntb1
|
UTSW |
15 |
55,506,191 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5429:Sntb1
|
UTSW |
15 |
55,506,191 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5431:Sntb1
|
UTSW |
15 |
55,506,191 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5594:Sntb1
|
UTSW |
15 |
55,506,191 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5665:Sntb1
|
UTSW |
15 |
55,655,535 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6147:Sntb1
|
UTSW |
15 |
55,511,406 (GRCm39) |
missense |
probably benign |
|
|
R6159:Sntb1
|
UTSW |
15 |
55,539,698 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6883:Sntb1
|
UTSW |
15 |
55,769,719 (GRCm39) |
missense |
probably benign |
0.38 |
|
R7008:Sntb1
|
UTSW |
15 |
55,655,468 (GRCm39) |
nonsense |
probably null |
|
|
R7168:Sntb1
|
UTSW |
15 |
55,654,661 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7511:Sntb1
|
UTSW |
15 |
55,511,347 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R7600:Sntb1
|
UTSW |
15 |
55,655,584 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R8242:Sntb1
|
UTSW |
15 |
55,655,629 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R8804:Sntb1
|
UTSW |
15 |
55,655,523 (GRCm39) |
missense |
probably benign |
0.37 |
|
R9280:Sntb1
|
UTSW |
15 |
55,769,771 (GRCm39) |
missense |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- AGAAGAGCTTTAGGCCTTCTG -3'
(R):5'- AGTATATGAGAGAAGCCACACC -3'
Sequencing Primer
(F):5'- GGAAACTGGCTGGAATATAATCTCTG -3'
(R):5'- CCTTACGTGAAGAAAGGGTCCC -3'
|
| Posted On |
2016-11-09 |
Incidental Mutation