Incidental Mutation 'R6556:Tnnt1'
| ID |
522162 |
| 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 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.214)
|
| Stock # |
R6556 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
4507568-4518974 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 4512576 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 110
(E110G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000125795
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000071798]
[ENSMUST00000108587]
[ENSMUST00000163538]
[ENSMUST00000163560]
[ENSMUST00000163710]
[ENSMUST00000163722]
[ENSMUST00000166161]
[ENSMUST00000166268]
[ENSMUST00000166959]
[ENSMUST00000178163]
|
| AlphaFold |
O88346 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000071798
AA Change: E122G
PolyPhen 2
Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000071704
Gene: ENSMUSG00000064179
AA Change: E122G
| 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 |
noncoding transcript
Transcript: ENSMUST00000086502
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000108587
AA Change: E123G
PolyPhen 2
Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000104228
Gene: ENSMUSG00000064179
AA Change: E123G
| 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 |
probably damaging
Transcript: ENSMUST00000163538
AA Change: E122G
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000127964
Gene: ENSMUSG00000064179
AA Change: E122G
| 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: ENSMUST00000163560
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000163710
AA Change: E111G
PolyPhen 2
Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000129626
Gene: ENSMUSG00000064179
AA Change: E111G
| 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: 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 damaging
Transcript: ENSMUST00000166161
AA Change: E110G
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000125795
Gene: ENSMUSG00000064179
AA Change: E110G
| 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 damaging
Transcript: ENSMUST00000166268
AA Change: E112G
PolyPhen 2
Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000128476
Gene: ENSMUSG00000064179
AA Change: E112G
| 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 damaging
Transcript: ENSMUST00000166959
AA Change: E123G
PolyPhen 2
Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000129109
Gene: ENSMUSG00000064179
AA Change: E123G
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
5 |
57 |
N/A |
INTRINSIC |
|
Pfam:Troponin
|
69 |
192 |
1.5e-31 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000178163
AA Change: E122G
PolyPhen 2
Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000137198
Gene: ENSMUSG00000064179
AA Change: E122G
| 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 |
noncoding transcript
Transcript: ENSMUST00000168111
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000169571
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.3%
- 20x: 97.5%
|
| Validation Efficiency |
|
| 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: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Atosb |
C |
T |
4: 43,033,896 (GRCm39) |
R460H |
probably damaging |
Het |
| Atp2a1 |
G |
T |
7: 126,049,434 (GRCm39) |
P536Q |
probably benign |
Het |
| Bnip5 |
T |
A |
17: 29,123,585 (GRCm39) |
D114V |
probably damaging |
Het |
| Cabyr |
T |
A |
18: 12,884,073 (GRCm39) |
S187T |
probably benign |
Het |
| Camkk1 |
A |
T |
11: 72,924,696 (GRCm39) |
N303I |
probably benign |
Het |
| Cdh13 |
C |
T |
8: 119,694,926 (GRCm39) |
P259S |
probably damaging |
Het |
| Csnk1g3 |
A |
G |
18: 54,063,354 (GRCm39) |
D255G |
possibly damaging |
Het |
| Dennd5b |
A |
C |
6: 148,915,749 (GRCm39) |
|
probably null |
Het |
| Dnajc14 |
A |
G |
10: 128,650,500 (GRCm39) |
D528G |
probably benign |
Het |
| Edem1 |
T |
C |
6: 108,831,318 (GRCm39) |
F593S |
probably benign |
Het |
| Efcab3 |
A |
G |
11: 104,899,077 (GRCm39) |
N4343S |
probably null |
Het |
| Erbb2 |
G |
A |
11: 98,326,908 (GRCm39) |
D1106N |
possibly damaging |
Het |
| Ermp1 |
T |
C |
19: 29,590,321 (GRCm39) |
M794V |
possibly damaging |
Het |
| Fip1l1 |
T |
A |
5: 74,707,838 (GRCm39) |
|
probably null |
Het |
| Gm20730 |
C |
T |
6: 43,058,476 (GRCm39) |
C112Y |
probably damaging |
Het |
| Gtf2h1 |
T |
A |
7: 46,458,089 (GRCm39) |
C245S |
probably damaging |
Het |
| Hdhd5 |
T |
C |
6: 120,500,515 (GRCm39) |
H61R |
probably benign |
Het |
| Ighv1-71 |
A |
T |
12: 115,706,092 (GRCm39) |
V31E |
probably damaging |
Het |
| Igsf9b |
T |
C |
9: 27,240,851 (GRCm39) |
F688S |
probably damaging |
Het |
| Iqcd |
T |
C |
5: 120,740,443 (GRCm39) |
V258A |
probably damaging |
Het |
| Kcnc2 |
G |
C |
10: 112,107,761 (GRCm39) |
G51R |
probably benign |
Het |
| Lpo |
G |
T |
11: 87,708,589 (GRCm39) |
Y136* |
probably null |
Het |
| Med30 |
A |
G |
15: 52,593,779 (GRCm39) |
|
probably benign |
Het |
| Mertk |
T |
A |
2: 128,618,341 (GRCm39) |
V524D |
probably benign |
Het |
| Ndufb11b |
A |
G |
15: 81,864,939 (GRCm39) |
D60G |
probably damaging |
Het |
| Or4c126 |
T |
A |
2: 89,824,517 (GRCm39) |
F260Y |
probably benign |
Het |
| Or4c52 |
T |
C |
2: 89,845,438 (GRCm39) |
Y55H |
probably damaging |
Het |
| Or5l13 |
T |
C |
2: 87,780,320 (GRCm39) |
I86V |
probably benign |
Het |
| Pde6b |
T |
A |
5: 108,569,367 (GRCm39) |
M358K |
possibly damaging |
Het |
| Prep |
GA |
G |
10: 45,034,410 (GRCm39) |
|
probably null |
Het |
| Prpf4b |
G |
A |
13: 35,080,015 (GRCm39) |
R793Q |
probably damaging |
Het |
| Rela |
T |
A |
19: 5,697,366 (GRCm39) |
N524K |
probably damaging |
Het |
| Relch |
T |
A |
1: 105,654,165 (GRCm39) |
F845I |
probably damaging |
Het |
| Rnaset2a |
T |
C |
17: 8,360,480 (GRCm39) |
D74G |
probably damaging |
Het |
| Semp2l2a |
G |
A |
8: 13,887,690 (GRCm39) |
Q134* |
probably null |
Het |
| Serinc2 |
T |
A |
4: 130,152,064 (GRCm39) |
I267F |
probably damaging |
Het |
| Sesn3 |
T |
C |
9: 14,232,549 (GRCm39) |
F274S |
possibly damaging |
Het |
| Spag1 |
T |
C |
15: 36,195,553 (GRCm39) |
Y249H |
probably damaging |
Het |
| Sstr1 |
A |
T |
12: 58,260,478 (GRCm39) |
D367V |
possibly damaging |
Het |
| Tasor |
T |
G |
14: 27,151,215 (GRCm39) |
Y64D |
probably benign |
Het |
| Tpm1 |
T |
A |
9: 66,935,451 (GRCm39) |
|
probably null |
Het |
| Unc93b1 |
T |
C |
19: 3,994,105 (GRCm39) |
V412A |
probably benign |
Het |
| Uox |
G |
C |
3: 146,330,403 (GRCm39) |
|
probably null |
Het |
| Usp44 |
T |
C |
10: 93,681,870 (GRCm39) |
Y107H |
probably benign |
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 |
|
|
R2340:Tnnt1
|
UTSW |
7 |
4,516,615 (GRCm39) |
splice site |
probably benign |
|
|
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 |
|
|
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'- TAAGTGAAGTTGGAGCCACG -3'
(R):5'- ACTCCAGTATCCATTTCTACCAGG -3'
Sequencing Primer
(F):5'- AGCAAAGCTCAGCCTTTGTG -3'
(R):5'- TACCATGAGTTCGAGAGACTGTC -3'
|
| Posted On |
2018-06-06 |
Incidental Mutation