Incidental Mutation 'R1027:Sntb2'
| ID |
96874 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Sntb2
|
| Ensembl Gene |
ENSMUSG00000041308 |
| Gene Name |
syntrophin, basic 2 |
| Synonyms |
Snt2 |
| MMRRC Submission |
039129-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.194)
|
| Stock # |
R1027 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
107662372-107740864 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 107718203 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Glutamic Acid
at position 304
(K304E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000148684
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000047425]
[ENSMUST00000212524]
|
| AlphaFold |
Q61235 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000047425
AA Change: K304E
PolyPhen 2
Score 0.152 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000037324
Gene: ENSMUSG00000041308
AA Change: K304E
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
12 |
28 |
N/A |
INTRINSIC |
|
low complexity region
|
39 |
50 |
N/A |
INTRINSIC |
|
low complexity region
|
62 |
92 |
N/A |
INTRINSIC |
|
low complexity region
|
93 |
99 |
N/A |
INTRINSIC |
|
PDZ
|
104 |
178 |
1.48e-17 |
SMART |
|
PH
|
144 |
282 |
3.52e0 |
SMART |
|
PH
|
306 |
419 |
4.07e-5 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000212524
AA Change: K304E
PolyPhen 2
Score 0.285 (Sensitivity: 0.91; Specificity: 0.88)
|
| Meta Mutation Damage Score |
0.0576 |
| Coding Region Coverage |
- 1x: 98.9%
- 3x: 97.9%
- 10x: 95.0%
- 20x: 89.0%
|
| Validation Efficiency |
94% (31/33) |
| 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]
PHENOTYPE: Homozygous null mice have no overt phenotype. They are fertile and motile with no signs of muscular dystrophy. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 28 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts10 |
G |
T |
17: 33,762,737 (GRCm39) |
R572L |
probably benign |
Het |
| Adamts16 |
A |
T |
13: 70,915,921 (GRCm39) |
V838E |
probably damaging |
Het |
| Arfgef3 |
T |
C |
10: 18,467,123 (GRCm39) |
R2026G |
probably benign |
Het |
| Arl16 |
G |
A |
11: 120,356,522 (GRCm39) |
A159V |
probably benign |
Het |
| Astn1 |
G |
T |
1: 158,407,849 (GRCm39) |
R602L |
probably damaging |
Het |
| Dennd1b |
T |
C |
1: 138,969,700 (GRCm39) |
V72A |
probably damaging |
Het |
| Filip1l |
A |
G |
16: 57,390,051 (GRCm39) |
E213G |
probably benign |
Het |
| Gm10985 |
A |
C |
3: 53,752,674 (GRCm39) |
Y19S |
probably damaging |
Het |
| Gm4076 |
T |
C |
13: 85,275,508 (GRCm39) |
|
noncoding transcript |
Het |
| Herc1 |
T |
C |
9: 66,363,250 (GRCm39) |
V2691A |
probably benign |
Het |
| Hid1 |
A |
C |
11: 115,246,251 (GRCm39) |
F340V |
probably damaging |
Het |
| Itga10 |
C |
T |
3: 96,559,054 (GRCm39) |
|
probably benign |
Het |
| Kif16b |
T |
C |
2: 142,696,458 (GRCm39) |
|
probably benign |
Het |
| Map9 |
A |
T |
3: 82,284,401 (GRCm39) |
D325V |
probably damaging |
Het |
| Mtor |
A |
G |
4: 148,624,456 (GRCm39) |
M2079V |
probably benign |
Het |
| Nop14 |
A |
G |
5: 34,801,348 (GRCm39) |
S608P |
probably damaging |
Het |
| Or5p62 |
A |
T |
7: 107,771,348 (GRCm39) |
V201D |
probably damaging |
Het |
| Pcm1 |
T |
C |
8: 41,746,482 (GRCm39) |
|
probably benign |
Het |
| Pigs |
T |
C |
11: 78,227,651 (GRCm39) |
S272P |
probably damaging |
Het |
| Plekhh1 |
T |
C |
12: 79,101,256 (GRCm39) |
|
probably benign |
Het |
| Prkdc |
A |
G |
16: 15,468,576 (GRCm39) |
D129G |
possibly damaging |
Het |
| Rab33b |
T |
C |
3: 51,391,876 (GRCm39) |
S42P |
probably damaging |
Het |
| Rnf214 |
C |
T |
9: 45,811,187 (GRCm39) |
V159I |
probably benign |
Het |
| Sel1l3 |
A |
T |
5: 53,302,820 (GRCm39) |
M683K |
possibly damaging |
Het |
| Svep1 |
C |
A |
4: 58,094,084 (GRCm39) |
S1518I |
possibly damaging |
Het |
| Tg |
T |
C |
15: 66,544,258 (GRCm39) |
S76P |
possibly damaging |
Het |
| Ttn |
A |
G |
2: 76,697,777 (GRCm39) |
|
probably benign |
Het |
| Zbtb12 |
CTTCAT |
CTTCATTCAT |
17: 35,115,284 (GRCm39) |
|
probably null |
Het |
|
| Other mutations in Sntb2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
BB007:Sntb2
|
UTSW |
8 |
107,728,269 (GRCm39) |
missense |
probably damaging |
0.98 |
|
BB017:Sntb2
|
UTSW |
8 |
107,728,269 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0226:Sntb2
|
UTSW |
8 |
107,728,215 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0345:Sntb2
|
UTSW |
8 |
107,728,170 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0766:Sntb2
|
UTSW |
8 |
107,728,209 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1312:Sntb2
|
UTSW |
8 |
107,728,209 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1514:Sntb2
|
UTSW |
8 |
107,718,164 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1942:Sntb2
|
UTSW |
8 |
107,737,984 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R2937:Sntb2
|
UTSW |
8 |
107,662,729 (GRCm39) |
missense |
probably benign |
0.06 |
|
R3968:Sntb2
|
UTSW |
8 |
107,723,772 (GRCm39) |
nonsense |
probably null |
|
|
R4455:Sntb2
|
UTSW |
8 |
107,718,239 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4458:Sntb2
|
UTSW |
8 |
107,718,239 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4526:Sntb2
|
UTSW |
8 |
107,736,595 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6123:Sntb2
|
UTSW |
8 |
107,707,857 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7378:Sntb2
|
UTSW |
8 |
107,707,944 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7458:Sntb2
|
UTSW |
8 |
107,662,930 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R7877:Sntb2
|
UTSW |
8 |
107,738,164 (GRCm39) |
missense |
probably benign |
|
|
R7930:Sntb2
|
UTSW |
8 |
107,728,269 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8403:Sntb2
|
UTSW |
8 |
107,728,166 (GRCm39) |
nonsense |
probably null |
|
|
R8734:Sntb2
|
UTSW |
8 |
107,728,320 (GRCm39) |
missense |
probably benign |
0.29 |
|
R8901:Sntb2
|
UTSW |
8 |
107,737,975 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R8964:Sntb2
|
UTSW |
8 |
107,707,808 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R9135:Sntb2
|
UTSW |
8 |
107,662,831 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R9411:Sntb2
|
UTSW |
8 |
107,737,931 (GRCm39) |
missense |
probably damaging |
0.99 |
|
| Predicted Primers |
PCR Primer
(F):5'- CTCACATGAAGTGCCCAGAAGACAG -3'
(R):5'- TTCTGCTGCTAGGGATGGTGACAC -3'
Sequencing Primer
(F):5'- AGTGTGATGACTTCAAGCCTAGC -3'
(R):5'- cacacacacacacacacac -3'
|
| Posted On |
2014-01-05 |
Incidental Mutation