Incidental Mutation 'IGL00773:Tpm2'
| ID |
14553 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Tpm2
|
| Ensembl Gene |
ENSMUSG00000028464 |
| Gene Name |
tropomyosin 2, beta |
| Synonyms |
Tpm-2, Trop-2 |
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.554)
|
| Stock # |
IGL00773
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
4 |
| Chromosomal Location |
43514711-43523765 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 43518251 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Glutamic Acid
at position 251
(K251E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000030184
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030183]
[ENSMUST00000030184]
[ENSMUST00000107913]
[ENSMUST00000107914]
[ENSMUST00000150592]
|
| AlphaFold |
P58774 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000030183
|
| SMART Domains |
Protein: ENSMUSP00000030183
Gene: ENSMUSG00000028463
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
31 |
N/A |
INTRINSIC |
|
low complexity region
|
61 |
80 |
N/A |
INTRINSIC |
|
Carb_anhydrase
|
120 |
369 |
2.72e-103 |
SMART |
|
Blast:Carb_anhydrase
|
378 |
427 |
7e-14 |
BLAST |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000030184
AA Change: K251E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000030184
Gene: ENSMUSG00000028464
AA Change: K251E
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Tropomyosin_1
|
7 |
153 |
3.3e-39 |
PFAM |
|
Pfam:Tropomyosin
|
48 |
284 |
1.5e-97 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000107913
AA Change: K251E
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000103546
Gene: ENSMUSG00000028464
AA Change: K251E
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Tropomyosin_1
|
7 |
153 |
6.5e-36 |
PFAM |
|
Pfam:Tropomyosin
|
48 |
284 |
4.8e-98 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000107914
AA Change: K251E
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000103547
Gene: ENSMUSG00000028464
AA Change: K251E
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Tropomyosin_1
|
7 |
153 |
7.2e-39 |
PFAM |
|
Pfam:Tropomyosin
|
48 |
284 |
6.3e-94 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000124114
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000133355
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000150262
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000150592
|
| SMART Domains |
Protein: ENSMUSP00000119908
Gene: ENSMUSG00000028464
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Tropomyosin_1
|
7 |
106 |
2.2e-26 |
PFAM |
|
Pfam:Tropomyosin
|
48 |
106 |
1.1e-18 |
PFAM |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: This gene belongs to the tropomyosin family which encodes proteins that bind to actin filaments and stabilize them by regulating access to actin modifying proteins. The encoded protein is a high molecular weight tropomyosin expressed in slow skeletal muscle. In humans, mutations in this gene are associated with nemaline myopathy, cap disease and distal arthrogryposis syndromes. Alternative splicing of this gene results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Apr 2013]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Actc1 |
T |
C |
2: 113,878,594 (GRCm39) |
|
probably benign |
Het |
| Aff1 |
C |
T |
5: 103,931,943 (GRCm39) |
S195F |
probably damaging |
Het |
| Atm |
G |
T |
9: 53,433,444 (GRCm39) |
H269N |
probably benign |
Het |
| Cdc25c |
A |
T |
18: 34,880,294 (GRCm39) |
S147T |
probably benign |
Het |
| Cdnf |
A |
G |
2: 3,520,392 (GRCm39) |
D57G |
possibly damaging |
Het |
| Cep170 |
T |
C |
1: 176,582,965 (GRCm39) |
D1138G |
probably damaging |
Het |
| Cfap70 |
A |
G |
14: 20,497,602 (GRCm39) |
S51P |
probably damaging |
Het |
| Csmd3 |
A |
G |
15: 47,454,115 (GRCm39) |
M3577T |
probably damaging |
Het |
| Cyb5rl |
C |
T |
4: 106,941,493 (GRCm39) |
A246V |
probably benign |
Het |
| Dcaf1 |
T |
A |
9: 106,735,532 (GRCm39) |
S827T |
probably benign |
Het |
| Epha3 |
T |
A |
16: 63,387,047 (GRCm39) |
Q862L |
probably damaging |
Het |
| Gm57858 |
A |
G |
3: 36,089,486 (GRCm39) |
L146P |
probably damaging |
Het |
| Igsf10 |
A |
G |
3: 59,238,960 (GRCm39) |
V407A |
probably benign |
Het |
| Myh2 |
T |
C |
11: 67,085,247 (GRCm39) |
I1751T |
probably benign |
Het |
| Pcm1 |
T |
C |
8: 41,727,314 (GRCm39) |
L528P |
probably damaging |
Het |
| Pla2g7 |
T |
G |
17: 43,913,762 (GRCm39) |
I235S |
probably damaging |
Het |
| Plekhh2 |
C |
T |
17: 84,914,296 (GRCm39) |
T1233M |
probably benign |
Het |
| Ptpn21 |
C |
T |
12: 98,654,572 (GRCm39) |
M798I |
probably benign |
Het |
| Ptprz1 |
A |
G |
6: 23,002,628 (GRCm39) |
K1573E |
probably benign |
Het |
| Rassf6 |
C |
T |
5: 90,751,999 (GRCm39) |
V272M |
probably damaging |
Het |
| Rprd2 |
A |
T |
3: 95,672,421 (GRCm39) |
F994Y |
probably damaging |
Het |
| Slc13a1 |
C |
T |
6: 24,118,016 (GRCm39) |
M240I |
possibly damaging |
Het |
| Slc22a6 |
A |
T |
19: 8,599,232 (GRCm39) |
I288F |
probably benign |
Het |
| Slc6a3 |
T |
A |
13: 73,692,860 (GRCm39) |
I160N |
probably damaging |
Het |
| Slfn10-ps |
T |
A |
11: 82,926,355 (GRCm39) |
|
noncoding transcript |
Het |
| Snx14 |
A |
T |
9: 88,276,592 (GRCm39) |
D564E |
probably damaging |
Het |
| Tceanc |
T |
A |
X: 165,285,857 (GRCm39) |
L179F |
probably benign |
Het |
| Trpm2 |
T |
A |
10: 77,785,048 (GRCm39) |
R191* |
probably null |
Het |
| Trpm3 |
T |
A |
19: 22,877,523 (GRCm39) |
M602K |
possibly damaging |
Het |
| Zbtb21 |
A |
T |
16: 97,753,520 (GRCm39) |
D282E |
probably benign |
Het |
|
| Other mutations in Tpm2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01447:Tpm2
|
APN |
4 |
43,518,251 (GRCm39) |
nonsense |
probably null |
|
|
IGL03145:Tpm2
|
APN |
4 |
43,519,447 (GRCm39) |
missense |
probably damaging |
0.97 |
|
PIT4791001:Tpm2
|
UTSW |
4 |
43,519,263 (GRCm39) |
missense |
probably benign |
0.30 |
|
R0970:Tpm2
|
UTSW |
4 |
43,515,968 (GRCm39) |
missense |
probably benign |
0.02 |
|
R2427:Tpm2
|
UTSW |
4 |
43,523,306 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4835:Tpm2
|
UTSW |
4 |
43,519,220 (GRCm39) |
splice site |
probably null |
|
|
R5249:Tpm2
|
UTSW |
4 |
43,514,828 (GRCm39) |
missense |
probably benign |
|
|
R5519:Tpm2
|
UTSW |
4 |
43,522,751 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R5568:Tpm2
|
UTSW |
4 |
43,522,692 (GRCm39) |
nonsense |
probably null |
|
|
R5746:Tpm2
|
UTSW |
4 |
43,519,731 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R5810:Tpm2
|
UTSW |
4 |
43,518,968 (GRCm39) |
unclassified |
probably benign |
|
|
R5850:Tpm2
|
UTSW |
4 |
43,523,296 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6000:Tpm2
|
UTSW |
4 |
43,518,301 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R6820:Tpm2
|
UTSW |
4 |
43,518,443 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7909:Tpm2
|
UTSW |
4 |
43,515,939 (GRCm39) |
missense |
probably benign |
0.06 |
|
R9473:Tpm2
|
UTSW |
4 |
43,514,813 (GRCm39) |
nonsense |
probably null |
|
|
| Posted On |
2012-12-06 |
Incidental Mutation