Incidental Mutation 'IGL03094:Tnnt2'
| ID |
418513 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Tnnt2
|
| Ensembl Gene |
ENSMUSG00000026414 |
| Gene Name |
troponin T2, cardiac |
| Synonyms |
cardiac TnT, cTnT, Tnt |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL03094
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
1 |
| Chromosomal Location |
135764092-135779998 bp(+) (GRCm39) |
| Type of Mutation |
critical splice donor site (2 bp from exon) |
| DNA Base Change (assembly) |
T to C
at 135777200 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000139669
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027671]
[ENSMUST00000112085]
[ENSMUST00000112086]
[ENSMUST00000112087]
[ENSMUST00000178204]
[ENSMUST00000178854]
[ENSMUST00000179863]
[ENSMUST00000188028]
[ENSMUST00000189355]
[ENSMUST00000189732]
[ENSMUST00000190451]
[ENSMUST00000189826]
|
| AlphaFold |
P50752 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000027671
|
| SMART Domains |
Protein: ENSMUSP00000027671
Gene: ENSMUSG00000026414
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
1 |
31 |
N/A |
INTRINSIC |
|
Pfam:Troponin
|
96 |
234 |
1e-33 |
PFAM |
|
Pfam:Troponin
|
226 |
289 |
1.2e-9 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000112085
|
| SMART Domains |
Protein: ENSMUSP00000107715
Gene: ENSMUSG00000026414
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
5 |
17 |
N/A |
INTRINSIC |
|
low complexity region
|
20 |
54 |
N/A |
INTRINSIC |
|
Pfam:Troponin
|
100 |
238 |
2.4e-33 |
PFAM |
|
Pfam:Troponin
|
230 |
293 |
2.7e-9 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000112086
|
| SMART Domains |
Protein: ENSMUSP00000107716
Gene: ENSMUSG00000026414
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
3 |
58 |
N/A |
INTRINSIC |
|
Pfam:Troponin
|
106 |
244 |
2.5e-33 |
PFAM |
|
Pfam:Troponin
|
236 |
299 |
2.8e-9 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000112087
|
| SMART Domains |
Protein: ENSMUSP00000107717
Gene: ENSMUSG00000026414
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
1 |
37 |
N/A |
INTRINSIC |
|
Pfam:Troponin
|
106 |
250 |
1.1e-38 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000178204
|
| SMART Domains |
Protein: ENSMUSP00000137579
Gene: ENSMUSG00000026414
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
1 |
38 |
N/A |
INTRINSIC |
|
Pfam:Troponin
|
110 |
245 |
3.8e-34 |
PFAM |
|
Pfam:Troponin
|
238 |
300 |
4.3e-9 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000178854
|
| SMART Domains |
Protein: ENSMUSP00000136265
Gene: ENSMUSG00000026414
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
1 |
35 |
N/A |
INTRINSIC |
|
Pfam:Troponin
|
100 |
244 |
1.7e-39 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000179863
|
| SMART Domains |
Protein: ENSMUSP00000137093
Gene: ENSMUSG00000026414
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
1 |
41 |
N/A |
INTRINSIC |
|
Pfam:Troponin
|
110 |
251 |
3e-39 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000188028
|
| SMART Domains |
Protein: ENSMUSP00000140941
Gene: ENSMUSG00000026414
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
1 |
41 |
N/A |
INTRINSIC |
|
Pfam:Troponin
|
110 |
251 |
3e-39 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000189355
|
| SMART Domains |
Protein: ENSMUSP00000139919
Gene: ENSMUSG00000026414
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
1 |
31 |
N/A |
INTRINSIC |
|
Pfam:Troponin
|
96 |
240 |
1.6e-39 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000189732
|
| SMART Domains |
Protein: ENSMUSP00000139669
Gene: ENSMUSG00000026414
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
1 |
35 |
N/A |
INTRINSIC |
|
Pfam:Troponin
|
100 |
244 |
1.7e-39 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000186225
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000188098
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000190451
|
| SMART Domains |
Protein: ENSMUSP00000140282
Gene: ENSMUSG00000026414
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
1 |
31 |
N/A |
INTRINSIC |
|
PDB:2Z5H|T
|
85 |
114 |
3e-7 |
PDB |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000189826
|
| SMART Domains |
Protein: ENSMUSP00000140807
Gene: ENSMUSG00000026414
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
1 |
41 |
N/A |
INTRINSIC |
|
Pfam:Troponin
|
110 |
201 |
1.7e-20 |
PFAM |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is the tropomyosin-binding subunit of the troponin complex, which is located on the thin filament of striated muscles and regulates muscle contraction in response to alterations in intracellular calcium ion concentration. Mutations in this gene have been associated with familial hypertrophic cardiomyopathy as well as with dilated cardiomyopathy. Transcripts for this gene undergo alternative splicing that results in many tissue-specific isoforms, however, the full-length nature of some of these variants has not yet been determined. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a null allele exhibit embryonic lethality during and prior to organogenesis and abnormal heart development. Mice homozygous for an allele that lacks the lysine residue at position 210 exhibit dilated cardiomyopathy. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca6 |
T |
C |
11: 110,074,938 (GRCm39) |
N1375S |
probably benign |
Het |
| Adamts15 |
A |
T |
9: 30,815,768 (GRCm39) |
|
probably benign |
Het |
| Ahnak |
G |
A |
19: 8,980,911 (GRCm39) |
V732M |
possibly damaging |
Het |
| Akr1c19 |
G |
A |
13: 4,286,184 (GRCm39) |
V61I |
probably benign |
Het |
| BC025920 |
C |
A |
10: 81,444,906 (GRCm39) |
R10S |
probably benign |
Het |
| Cdh11 |
T |
C |
8: 103,385,035 (GRCm39) |
I347V |
probably benign |
Het |
| Cyp11b2 |
A |
G |
15: 74,724,886 (GRCm39) |
|
probably null |
Het |
| Cyp4a31 |
T |
A |
4: 115,435,305 (GRCm39) |
|
probably benign |
Het |
| Emilin3 |
G |
A |
2: 160,750,649 (GRCm39) |
Q320* |
probably null |
Het |
| Glra3 |
C |
A |
8: 56,578,207 (GRCm39) |
H421Q |
probably benign |
Het |
| Gtf2f1 |
T |
C |
17: 57,314,049 (GRCm39) |
N145S |
probably damaging |
Het |
| Hsd17b12 |
A |
T |
2: 93,864,339 (GRCm39) |
V256E |
probably damaging |
Het |
| Ighv1-34 |
C |
T |
12: 114,814,958 (GRCm39) |
G68E |
probably damaging |
Het |
| Ipo5 |
T |
C |
14: 121,181,089 (GRCm39) |
|
probably benign |
Het |
| Knop1 |
T |
A |
7: 118,452,374 (GRCm39) |
D63V |
possibly damaging |
Het |
| Krt39 |
T |
C |
11: 99,411,628 (GRCm39) |
|
probably benign |
Het |
| Ldhb |
T |
C |
6: 142,451,253 (GRCm39) |
K5R |
probably benign |
Het |
| Loxhd1 |
A |
T |
18: 77,518,809 (GRCm39) |
I1872F |
possibly damaging |
Het |
| Lrfn5 |
A |
G |
12: 61,886,532 (GRCm39) |
N107D |
probably benign |
Het |
| Mks1 |
A |
G |
11: 87,746,291 (GRCm39) |
|
probably benign |
Het |
| Nup93 |
C |
T |
8: 95,023,130 (GRCm39) |
T236I |
probably benign |
Het |
| Olig3 |
T |
C |
10: 19,232,878 (GRCm39) |
S168P |
probably benign |
Het |
| Or1i2 |
A |
G |
10: 78,447,953 (GRCm39) |
I174T |
possibly damaging |
Het |
| Pcna |
C |
T |
2: 132,093,673 (GRCm39) |
E109K |
probably benign |
Het |
| Per3 |
A |
C |
4: 151,093,755 (GRCm39) |
I1020R |
probably damaging |
Het |
| Plbd2 |
T |
C |
5: 120,624,845 (GRCm39) |
N441S |
probably damaging |
Het |
| Plec |
A |
G |
15: 76,075,519 (GRCm39) |
S398P |
probably damaging |
Het |
| Ppm1m |
T |
G |
9: 106,073,610 (GRCm39) |
K314T |
probably damaging |
Het |
| Prmt2 |
T |
A |
10: 76,046,224 (GRCm39) |
|
probably benign |
Het |
| Rbm19 |
T |
C |
5: 120,261,023 (GRCm39) |
S216P |
probably damaging |
Het |
| Sart1 |
A |
G |
19: 5,434,109 (GRCm39) |
|
probably benign |
Het |
| Tmem225 |
A |
T |
9: 40,059,682 (GRCm39) |
I21L |
possibly damaging |
Het |
| Trappc10 |
A |
T |
10: 78,064,754 (GRCm39) |
|
probably benign |
Het |
| Trip13 |
A |
G |
13: 74,081,075 (GRCm39) |
L97P |
probably benign |
Het |
| Zmat2 |
T |
G |
18: 36,929,119 (GRCm39) |
V89G |
probably damaging |
Het |
|
| Other mutations in Tnnt2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00858:Tnnt2
|
APN |
1 |
135,779,440 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL00885:Tnnt2
|
APN |
1 |
135,774,502 (GRCm39) |
splice site |
probably benign |
|
|
IGL02223:Tnnt2
|
APN |
1 |
135,769,753 (GRCm39) |
intron |
probably benign |
|
|
R0827:Tnnt2
|
UTSW |
1 |
135,771,534 (GRCm39) |
intron |
probably benign |
|
|
R1469:Tnnt2
|
UTSW |
1 |
135,779,793 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R1469:Tnnt2
|
UTSW |
1 |
135,779,793 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R1478:Tnnt2
|
UTSW |
1 |
135,775,764 (GRCm39) |
missense |
probably benign |
0.40 |
|
R1728:Tnnt2
|
UTSW |
1 |
135,773,244 (GRCm39) |
intron |
probably benign |
|
|
R1729:Tnnt2
|
UTSW |
1 |
135,773,244 (GRCm39) |
intron |
probably benign |
|
|
R1730:Tnnt2
|
UTSW |
1 |
135,773,244 (GRCm39) |
intron |
probably benign |
|
|
R1739:Tnnt2
|
UTSW |
1 |
135,773,244 (GRCm39) |
intron |
probably benign |
|
|
R1762:Tnnt2
|
UTSW |
1 |
135,773,244 (GRCm39) |
intron |
probably benign |
|
|
R1783:Tnnt2
|
UTSW |
1 |
135,773,244 (GRCm39) |
intron |
probably benign |
|
|
R1784:Tnnt2
|
UTSW |
1 |
135,773,244 (GRCm39) |
intron |
probably benign |
|
|
R1785:Tnnt2
|
UTSW |
1 |
135,773,244 (GRCm39) |
intron |
probably benign |
|
|
R1891:Tnnt2
|
UTSW |
1 |
135,768,597 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R2049:Tnnt2
|
UTSW |
1 |
135,774,499 (GRCm39) |
splice site |
probably benign |
|
|
R2104:Tnnt2
|
UTSW |
1 |
135,771,547 (GRCm39) |
intron |
probably benign |
|
|
R2130:Tnnt2
|
UTSW |
1 |
135,774,499 (GRCm39) |
splice site |
probably benign |
|
|
R2141:Tnnt2
|
UTSW |
1 |
135,774,499 (GRCm39) |
splice site |
probably benign |
|
|
R2225:Tnnt2
|
UTSW |
1 |
135,771,529 (GRCm39) |
intron |
probably benign |
|
|
R2227:Tnnt2
|
UTSW |
1 |
135,771,529 (GRCm39) |
intron |
probably benign |
|
|
R2504:Tnnt2
|
UTSW |
1 |
135,779,803 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R4883:Tnnt2
|
UTSW |
1 |
135,775,496 (GRCm39) |
nonsense |
probably null |
|
|
R5963:Tnnt2
|
UTSW |
1 |
135,771,600 (GRCm39) |
intron |
probably benign |
|
|
R6082:Tnnt2
|
UTSW |
1 |
135,777,172 (GRCm39) |
missense |
probably benign |
0.30 |
|
R6261:Tnnt2
|
UTSW |
1 |
135,778,292 (GRCm39) |
splice site |
probably null |
|
|
R7208:Tnnt2
|
UTSW |
1 |
135,778,114 (GRCm39) |
splice site |
probably null |
|
|
R7241:Tnnt2
|
UTSW |
1 |
135,779,444 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9038:Tnnt2
|
UTSW |
1 |
135,774,484 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R9140:Tnnt2
|
UTSW |
1 |
135,768,635 (GRCm39) |
missense |
|
|
|
R9515:Tnnt2
|
UTSW |
1 |
135,768,640 (GRCm39) |
missense |
unknown |
|
|
R9530:Tnnt2
|
UTSW |
1 |
135,779,793 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
| Posted On |
2016-08-02 |
Incidental Mutation