Incidental Mutation 'IGL02188:Tnnc1'
| ID |
283754 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Tnnc1
|
| Ensembl Gene |
ENSMUSG00000091898 |
| Gene Name |
troponin C, cardiac/slow skeletal |
| Synonyms |
cTnC, TnC |
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.278)
|
| Stock # |
IGL02188
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
14 |
| Chromosomal Location |
30930274-30933671 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 30932617 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Proline
at position 100
(L100P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000131991
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022469]
[ENSMUST00000164989]
[ENSMUST00000165981]
[ENSMUST00000169169]
[ENSMUST00000170268]
[ENSMUST00000172142]
[ENSMUST00000171735]
|
| AlphaFold |
P19123 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000022469
|
| SMART Domains |
Protein: ENSMUSP00000022469
Gene: ENSMUSG00000021910
| Domain | Start | End | E-Value | Type |
|---|
|
PX
|
15 |
119 |
2.17e-26 |
SMART |
|
PDB:4PQ8|A
|
287 |
420 |
9e-8 |
PDB |
|
SCOP:d1h6ta2
|
291 |
421 |
6e-29 |
SMART |
|
Blast:LRR
|
311 |
332 |
5e-6 |
BLAST |
|
Blast:LRR
|
333 |
355 |
6e-6 |
BLAST |
|
Blast:LRR
|
378 |
403 |
5e-7 |
BLAST |
|
Blast:LRR
|
403 |
429 |
6e-7 |
BLAST |
|
low complexity region
|
489 |
501 |
N/A |
INTRINSIC |
|
low complexity region
|
517 |
534 |
N/A |
INTRINSIC |
|
coiled coil region
|
625 |
650 |
N/A |
INTRINSIC |
|
low complexity region
|
662 |
695 |
N/A |
INTRINSIC |
|
low complexity region
|
1038 |
1069 |
N/A |
INTRINSIC |
|
low complexity region
|
1081 |
1193 |
N/A |
INTRINSIC |
|
low complexity region
|
1491 |
1509 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000161399
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000164617
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000164989
|
| SMART Domains |
Protein: ENSMUSP00000126982
Gene: ENSMUSG00000021910
| Domain | Start | End | E-Value | Type |
|---|
|
PX
|
15 |
119 |
2.17e-26 |
SMART |
|
Pfam:LRR_4
|
289 |
332 |
3.2e-8 |
PFAM |
|
Pfam:LRR_1
|
290 |
311 |
2.9e-3 |
PFAM |
|
Pfam:LRR_1
|
313 |
332 |
4.2e-2 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000165981
|
| SMART Domains |
Protein: ENSMUSP00000130210
Gene: ENSMUSG00000021910
| Domain | Start | End | E-Value | Type |
|---|
|
PX
|
15 |
119 |
2.17e-26 |
SMART |
|
Pfam:LRR_7
|
289 |
305 |
7.4e-2 |
PFAM |
|
Pfam:LRR_6
|
289 |
309 |
3.8e-2 |
PFAM |
|
Pfam:LRR_4
|
289 |
333 |
5.9e-8 |
PFAM |
|
Pfam:LRR_8
|
289 |
346 |
6.8e-10 |
PFAM |
|
Pfam:LRR_1
|
290 |
311 |
4.4e-3 |
PFAM |
|
Pfam:LRR_8
|
312 |
369 |
7.3e-9 |
PFAM |
|
Pfam:LRR_1
|
313 |
333 |
1.8e-2 |
PFAM |
|
Pfam:LRR_4
|
329 |
377 |
2.3e-8 |
PFAM |
|
Pfam:LRR_6
|
333 |
354 |
2e-3 |
PFAM |
|
Pfam:LRR_7
|
334 |
350 |
1.9e-1 |
PFAM |
|
Pfam:LRR_1
|
335 |
354 |
1.2e-2 |
PFAM |
|
Blast:LRR
|
378 |
403 |
1e-6 |
BLAST |
|
Blast:LRR
|
403 |
429 |
1e-7 |
BLAST |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000167602
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000169169
AA Change: L100P
PolyPhen 2
Score 0.800 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000131991
Gene: ENSMUSG00000091898
AA Change: L100P
| Domain | Start | End | E-Value | Type |
|---|
|
EFh
|
19 |
48 |
1.08e2 |
SMART |
|
EFh
|
56 |
84 |
2.39e-8 |
SMART |
|
EFh
|
96 |
124 |
2.7e-7 |
SMART |
|
EFh
|
132 |
160 |
4.03e-6 |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000170268
AA Change: L100P
PolyPhen 2
Score 0.650 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000128765
Gene: ENSMUSG00000091898
AA Change: L100P
| Domain | Start | End | E-Value | Type |
|---|
|
EFh
|
19 |
48 |
1.08e2 |
SMART |
|
EFh
|
56 |
84 |
2.39e-8 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000172142
|
| SMART Domains |
Protein: ENSMUSP00000132413
Gene: ENSMUSG00000021910
| Domain | Start | End | E-Value | Type |
|---|
|
PX
|
15 |
119 |
2.17e-26 |
SMART |
|
Pfam:LRR_7
|
289 |
305 |
8.2e-2 |
PFAM |
|
Pfam:LRR_6
|
289 |
309 |
4.2e-2 |
PFAM |
|
Pfam:LRR_4
|
289 |
333 |
6.6e-8 |
PFAM |
|
Pfam:LRR_8
|
289 |
346 |
7.6e-10 |
PFAM |
|
Pfam:LRR_1
|
290 |
311 |
4.9e-3 |
PFAM |
|
Pfam:LRR_8
|
312 |
369 |
7.7e-9 |
PFAM |
|
Pfam:LRR_1
|
313 |
333 |
2e-2 |
PFAM |
|
Pfam:LRR_4
|
329 |
377 |
2.7e-8 |
PFAM |
|
Pfam:LRR_6
|
333 |
354 |
2.2e-3 |
PFAM |
|
Pfam:LRR_7
|
334 |
350 |
2.1e-1 |
PFAM |
|
Pfam:LRR_1
|
335 |
354 |
1.3e-2 |
PFAM |
|
Blast:LRR
|
378 |
403 |
1e-6 |
BLAST |
|
Blast:LRR
|
403 |
429 |
1e-7 |
BLAST |
|
low complexity region
|
489 |
501 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000171735
|
| SMART Domains |
Protein: ENSMUSP00000127132
Gene: ENSMUSG00000021910
| Domain | Start | End | E-Value | Type |
|---|
|
PX
|
15 |
119 |
2.17e-26 |
SMART |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Troponin is a central regulatory protein of striated muscle contraction, and together with tropomyosin, is located on the actin filament. Troponin consists of 3 subunits: TnI, which is the inhibitor of actomyosin ATPase; TnT, which contains the binding site for tropomyosin; and TnC, the protein encoded by this gene. The binding of calcium to TnC abolishes the inhibitory action of TnI, thus allowing the interaction of actin with myosin, the hydrolysis of ATP, and the generation of tension. Mutations in this gene are associated with cardiomyopathy dilated type 1Z. [provided by RefSeq, Oct 2008]
|
| Allele List at MGI |
All alleles(2) : Targeted, other(2) |
| Other mutations in this stock |
Total: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Afap1 |
A |
G |
5: 36,093,421 (GRCm39) |
N56S |
probably benign |
Het |
| Asb18 |
A |
G |
1: 89,924,021 (GRCm39) |
C81R |
probably benign |
Het |
| Ccl25 |
A |
C |
8: 4,398,552 (GRCm39) |
|
probably benign |
Het |
| Cdh13 |
A |
G |
8: 119,578,500 (GRCm39) |
T176A |
probably benign |
Het |
| Cnrip1 |
A |
G |
11: 17,028,398 (GRCm39) |
|
probably null |
Het |
| Dnmt1 |
A |
T |
9: 20,853,034 (GRCm39) |
C62* |
probably null |
Het |
| Eepd1 |
T |
C |
9: 25,493,188 (GRCm39) |
F311L |
probably benign |
Het |
| Extl3 |
A |
G |
14: 65,313,154 (GRCm39) |
L676P |
probably damaging |
Het |
| F13a1 |
A |
G |
13: 37,090,035 (GRCm39) |
|
probably benign |
Het |
| Galnt12 |
C |
T |
4: 47,122,521 (GRCm39) |
R267W |
probably damaging |
Het |
| Gm5150 |
T |
A |
3: 16,017,826 (GRCm39) |
K148N |
possibly damaging |
Het |
| Haus8 |
G |
T |
8: 71,710,059 (GRCm39) |
A51E |
probably damaging |
Het |
| Hyal5 |
T |
C |
6: 24,877,035 (GRCm39) |
Y303H |
probably damaging |
Het |
| Itga5 |
C |
T |
15: 103,256,144 (GRCm39) |
R936H |
probably benign |
Het |
| Itgb4 |
A |
G |
11: 115,894,213 (GRCm39) |
N1282S |
probably benign |
Het |
| Krt26 |
C |
T |
11: 99,224,471 (GRCm39) |
R349Q |
probably benign |
Het |
| Matn4 |
C |
T |
2: 164,242,786 (GRCm39) |
R104H |
probably benign |
Het |
| Mideas |
T |
C |
12: 84,209,100 (GRCm39) |
I667M |
probably benign |
Het |
| Myg1 |
T |
C |
15: 102,245,876 (GRCm39) |
I238T |
probably benign |
Het |
| Myo7a |
C |
T |
7: 97,740,234 (GRCm39) |
A598T |
probably damaging |
Het |
| Nbea |
T |
A |
3: 55,891,258 (GRCm39) |
I1604L |
probably benign |
Het |
| Nfx1 |
G |
A |
4: 40,993,827 (GRCm39) |
G547R |
probably damaging |
Het |
| Or5b113 |
A |
T |
19: 13,342,396 (GRCm39) |
M135L |
probably benign |
Het |
| Or5b113 |
A |
T |
19: 13,342,643 (GRCm39) |
Y217F |
probably damaging |
Het |
| Pelp1 |
T |
A |
11: 70,300,718 (GRCm39) |
I41F |
unknown |
Het |
| Pla2g2f |
T |
C |
4: 138,479,518 (GRCm39) |
|
probably benign |
Het |
| Rab19 |
T |
A |
6: 39,360,968 (GRCm39) |
S39T |
probably benign |
Het |
| Samd8 |
T |
C |
14: 21,833,866 (GRCm39) |
|
probably null |
Het |
| Sec16a |
T |
C |
2: 26,326,020 (GRCm39) |
D1219G |
probably damaging |
Het |
| Slc2a4 |
C |
T |
11: 69,837,156 (GRCm39) |
M1I |
probably null |
Het |
| Slc44a1 |
T |
C |
4: 53,541,361 (GRCm39) |
V273A |
probably benign |
Het |
| Spata31f1e |
T |
A |
4: 42,791,994 (GRCm39) |
|
probably null |
Het |
| Svep1 |
T |
C |
4: 58,068,382 (GRCm39) |
T3135A |
possibly damaging |
Het |
| Ubr3 |
C |
T |
2: 69,789,955 (GRCm39) |
R870* |
probably null |
Het |
| Usp28 |
T |
C |
9: 48,935,309 (GRCm39) |
S87P |
probably benign |
Het |
| Xylt1 |
T |
A |
7: 117,233,964 (GRCm39) |
V497E |
probably damaging |
Het |
| Zfp318 |
C |
T |
17: 46,707,736 (GRCm39) |
R265* |
probably null |
Het |
|
| Other mutations in Tnnc1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL03308:Tnnc1
|
APN |
14 |
30,931,798 (GRCm39) |
unclassified |
probably benign |
|
|
D3080:Tnnc1
|
UTSW |
14 |
30,932,147 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0110:Tnnc1
|
UTSW |
14 |
30,933,365 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0469:Tnnc1
|
UTSW |
14 |
30,933,365 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8557:Tnnc1
|
UTSW |
14 |
30,932,562 (GRCm39) |
missense |
probably damaging |
0.99 |
|
| Posted On |
2015-04-16 |
Incidental Mutation