Incidental Mutation 'R2340:Tnnt1'
ID |
246705 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Tnnt1
|
Ensembl Gene |
ENSMUSG00000064179 |
Gene Name |
troponin T1, skeletal, slow |
Synonyms |
Tnt, ssTnT, sTnT, skeletal muscle slow-twitch TnT |
MMRRC Submission |
040326-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.214)
|
Stock # |
R2340 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
7 |
Chromosomal Location |
4507568-4518974 bp(-) (GRCm39) |
Type of Mutation |
splice site |
DNA Base Change (assembly) |
G to A
at 4516615 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000137198
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000071798]
[ENSMUST00000098859]
[ENSMUST00000108587]
[ENSMUST00000163538]
[ENSMUST00000163722]
[ENSMUST00000178163]
[ENSMUST00000166959]
[ENSMUST00000166161]
[ENSMUST00000163710]
[ENSMUST00000166268]
[ENSMUST00000163560]
|
AlphaFold |
O88346 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000071798
|
SMART Domains |
Protein: ENSMUSP00000071704 Gene: ENSMUSG00000064179
Domain | Start | End | E-Value | Type |
low complexity region
|
5 |
56 |
N/A |
INTRINSIC |
Pfam:Troponin
|
68 |
210 |
7.3e-40 |
PFAM |
low complexity region
|
246 |
259 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000098859
|
SMART Domains |
Protein: ENSMUSP00000096458 Gene: ENSMUSG00000035458
Domain | Start | End | E-Value | Type |
Pfam:Troponin-I_N
|
1 |
32 |
1e-10 |
PFAM |
Pfam:Troponin
|
47 |
178 |
3.6e-45 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000108587
|
SMART Domains |
Protein: ENSMUSP00000104228 Gene: ENSMUSG00000064179
Domain | Start | End | E-Value | Type |
low complexity region
|
5 |
57 |
N/A |
INTRINSIC |
Pfam:Troponin
|
69 |
205 |
3e-36 |
PFAM |
Pfam:Troponin
|
197 |
260 |
4.8e-8 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000126873
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000132621
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000163538
|
SMART Domains |
Protein: ENSMUSP00000127964 Gene: ENSMUSG00000064179
Domain | Start | End | E-Value | Type |
low complexity region
|
5 |
56 |
N/A |
INTRINSIC |
Pfam:Troponin
|
68 |
160 |
4.4e-26 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000163722
|
SMART Domains |
Protein: ENSMUSP00000129409 Gene: ENSMUSG00000064179
Domain | Start | End | E-Value | Type |
low complexity region
|
17 |
64 |
N/A |
INTRINSIC |
Pfam:Troponin
|
76 |
118 |
1.9e-13 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000178163
|
SMART Domains |
Protein: ENSMUSP00000137198 Gene: ENSMUSG00000064179
Domain | Start | End | E-Value | Type |
low complexity region
|
5 |
40 |
N/A |
INTRINSIC |
low complexity region
|
44 |
55 |
N/A |
INTRINSIC |
Pfam:Troponin
|
68 |
210 |
7.3e-40 |
PFAM |
low complexity region
|
246 |
259 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000166959
|
SMART Domains |
Protein: ENSMUSP00000129109 Gene: ENSMUSG00000064179
Domain | Start | End | E-Value | Type |
low complexity region
|
5 |
57 |
N/A |
INTRINSIC |
Pfam:Troponin
|
69 |
192 |
1.5e-31 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000169571
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000168111
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000166161
|
SMART Domains |
Protein: ENSMUSP00000125795 Gene: ENSMUSG00000064179
Domain | Start | End | E-Value | Type |
low complexity region
|
5 |
46 |
N/A |
INTRINSIC |
Pfam:Troponin
|
56 |
198 |
3.4e-40 |
PFAM |
low complexity region
|
234 |
247 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000163710
|
SMART Domains |
Protein: ENSMUSP00000129626 Gene: ENSMUSG00000064179
Domain | Start | End | E-Value | Type |
coiled coil region
|
2 |
29 |
N/A |
INTRINSIC |
Pfam:Troponin
|
57 |
199 |
1.9e-39 |
PFAM |
low complexity region
|
235 |
248 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000166268
|
SMART Domains |
Protein: ENSMUSP00000128476 Gene: ENSMUSG00000064179
Domain | Start | End | E-Value | Type |
coiled coil region
|
2 |
28 |
N/A |
INTRINSIC |
Pfam:Troponin
|
58 |
200 |
1.6e-38 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000163560
|
Meta Mutation Damage Score |
0.0898 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.1%
|
Validation Efficiency |
97% (37/38) |
MGI Phenotype |
FUNCTION: This gene encodes the slow skeletal tropomyosin-binding subunit of the troponin complex and plays an essential role in the regulation of striated muscle contraction. In humans, mutations in this gene are associated with nemaline myopathy type 5. Alternative splicing of this gene results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Apr 2013] PHENOTYPE: Mice homozygous for a null or hypomorphic allele show small and loss of type I slow skeletal muscle fibers with compensatory hypertrophy of type II fast fibers and reduced contractile force and tolerance of skeletal muscle fibers. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 37 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2700049A03Rik |
G |
T |
12: 71,211,320 (GRCm39) |
E685* |
probably null |
Het |
2700049A03Rik |
A |
T |
12: 71,211,321 (GRCm39) |
E685V |
possibly damaging |
Het |
Abca13 |
A |
T |
11: 9,349,165 (GRCm39) |
I3580F |
probably damaging |
Het |
B3glct |
A |
G |
5: 149,668,905 (GRCm39) |
K280E |
probably benign |
Het |
Chd6 |
TG |
T |
2: 160,807,679 (GRCm39) |
|
probably null |
Het |
Clu |
T |
C |
14: 66,218,358 (GRCm39) |
V406A |
probably damaging |
Het |
D930020B18Rik |
A |
G |
10: 121,490,741 (GRCm39) |
K114E |
probably damaging |
Het |
Dsg1c |
T |
A |
18: 20,400,945 (GRCm39) |
D149E |
probably damaging |
Het |
Entrep2 |
A |
G |
7: 64,425,565 (GRCm39) |
S176P |
probably benign |
Het |
Fat2 |
A |
T |
11: 55,160,922 (GRCm39) |
D3269E |
possibly damaging |
Het |
Frmd4a |
A |
G |
2: 4,591,187 (GRCm39) |
D69G |
probably damaging |
Het |
Hacd1 |
G |
T |
2: 14,040,698 (GRCm39) |
P186T |
probably damaging |
Het |
Hlx |
G |
T |
1: 184,464,184 (GRCm39) |
A52D |
probably damaging |
Het |
Kif2c |
A |
G |
4: 117,027,038 (GRCm39) |
V320A |
probably damaging |
Het |
Lypd2 |
T |
A |
15: 74,606,103 (GRCm39) |
I12L |
probably benign |
Het |
Midn |
G |
T |
10: 79,985,946 (GRCm39) |
R12L |
possibly damaging |
Het |
Or2b6 |
T |
C |
13: 21,822,757 (GRCm39) |
K312R |
probably benign |
Het |
Or8g34 |
A |
G |
9: 39,373,105 (GRCm39) |
Y126C |
probably damaging |
Het |
Or9q2 |
A |
G |
19: 13,772,135 (GRCm39) |
V280A |
probably benign |
Het |
Pkhd1 |
A |
T |
1: 20,271,079 (GRCm39) |
V3158E |
probably damaging |
Het |
Plxna2 |
C |
T |
1: 194,431,625 (GRCm39) |
S538F |
probably damaging |
Het |
Rad51d |
T |
C |
11: 82,772,647 (GRCm39) |
D206G |
probably damaging |
Het |
Rcan1 |
A |
G |
16: 92,194,240 (GRCm39) |
F58L |
probably damaging |
Het |
Rnf145 |
T |
C |
11: 44,422,205 (GRCm39) |
I96T |
probably benign |
Het |
Rnf216 |
A |
T |
5: 143,066,089 (GRCm39) |
F500I |
probably damaging |
Het |
Rph3al |
T |
C |
11: 75,724,258 (GRCm39) |
T282A |
probably benign |
Het |
Serpina11 |
T |
C |
12: 103,951,002 (GRCm39) |
R240G |
probably benign |
Het |
Slc12a2 |
T |
A |
18: 58,033,122 (GRCm39) |
I400N |
probably benign |
Het |
Slco1a4 |
C |
A |
6: 141,787,103 (GRCm39) |
C28F |
probably benign |
Het |
Sned1 |
T |
A |
1: 93,184,174 (GRCm39) |
I134N |
probably damaging |
Het |
Spock3 |
T |
A |
8: 63,798,747 (GRCm39) |
M253K |
probably damaging |
Het |
Tmem184b |
T |
A |
15: 79,262,732 (GRCm39) |
M42L |
probably benign |
Het |
Ttll5 |
T |
A |
12: 85,938,922 (GRCm39) |
S407T |
probably benign |
Het |
Ugcg |
C |
T |
4: 59,207,798 (GRCm39) |
P46S |
probably benign |
Het |
Vmn2r112 |
T |
A |
17: 22,822,096 (GRCm39) |
V258E |
probably damaging |
Het |
Zfat |
T |
C |
15: 67,973,390 (GRCm39) |
E1117G |
probably damaging |
Het |
Zfp606 |
A |
G |
7: 12,227,016 (GRCm39) |
E321G |
possibly damaging |
Het |
|
Other mutations in Tnnt1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00585:Tnnt1
|
APN |
7 |
4,510,549 (GRCm39) |
missense |
possibly damaging |
0.96 |
IGL01391:Tnnt1
|
APN |
7 |
4,517,211 (GRCm39) |
critical splice donor site |
probably null |
|
IGL01582:Tnnt1
|
APN |
7 |
4,512,982 (GRCm39) |
missense |
probably damaging |
1.00 |
R0098:Tnnt1
|
UTSW |
7 |
4,512,044 (GRCm39) |
missense |
probably damaging |
0.99 |
R0963:Tnnt1
|
UTSW |
7 |
4,510,594 (GRCm39) |
missense |
probably damaging |
1.00 |
R1489:Tnnt1
|
UTSW |
7 |
4,510,524 (GRCm39) |
nonsense |
probably null |
|
R4224:Tnnt1
|
UTSW |
7 |
4,513,006 (GRCm39) |
missense |
probably damaging |
1.00 |
R4624:Tnnt1
|
UTSW |
7 |
4,515,267 (GRCm39) |
intron |
probably benign |
|
R4969:Tnnt1
|
UTSW |
7 |
4,510,573 (GRCm39) |
missense |
probably damaging |
1.00 |
R5245:Tnnt1
|
UTSW |
7 |
4,513,066 (GRCm39) |
missense |
probably damaging |
1.00 |
R5822:Tnnt1
|
UTSW |
7 |
4,519,345 (GRCm39) |
nonsense |
probably null |
|
R6520:Tnnt1
|
UTSW |
7 |
4,512,060 (GRCm39) |
nonsense |
probably null |
|
R6556:Tnnt1
|
UTSW |
7 |
4,512,576 (GRCm39) |
missense |
probably damaging |
1.00 |
R6573:Tnnt1
|
UTSW |
7 |
4,517,333 (GRCm39) |
splice site |
probably null |
|
R6838:Tnnt1
|
UTSW |
7 |
4,510,406 (GRCm39) |
missense |
possibly damaging |
0.94 |
R7318:Tnnt1
|
UTSW |
7 |
4,513,547 (GRCm39) |
splice site |
probably null |
|
R7889:Tnnt1
|
UTSW |
7 |
4,511,582 (GRCm39) |
missense |
probably damaging |
1.00 |
R8405:Tnnt1
|
UTSW |
7 |
4,510,592 (GRCm39) |
missense |
probably damaging |
0.98 |
R9217:Tnnt1
|
UTSW |
7 |
4,513,381 (GRCm39) |
missense |
probably benign |
0.18 |
R9621:Tnnt1
|
UTSW |
7 |
4,511,501 (GRCm39) |
missense |
probably benign |
0.08 |
X0010:Tnnt1
|
UTSW |
7 |
4,512,970 (GRCm39) |
missense |
probably damaging |
0.99 |
|
Predicted Primers |
PCR Primer
(F):5'- ACGCCAGGCAATTTCCCTTC -3'
(R):5'- AATCCCACAGGTCTCTTCCTAGG -3'
Sequencing Primer
(F):5'- AGGCAATTTCCCTTCACGGC -3'
(R):5'- GGTCTCTTCCTAGGCCTTGG -3'
|
Posted On |
2014-10-30 |