Incidental Mutation 'IGL01447:Tpm2'
ID |
84460 |
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 # |
IGL01447
|
Quality Score |
|
Status
|
|
Chromosome |
4 |
Chromosomal Location |
43514711-43523765 bp(-) (GRCm39) |
Type of Mutation |
nonsense |
DNA Base Change (assembly) |
T to A
at 43518251 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Lysine to Stop codon
at position 251
(K251*)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000103547
(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 null
Transcript: ENSMUST00000030184
AA Change: K251*
|
SMART Domains |
Protein: ENSMUSP00000030184 Gene: ENSMUSG00000028464 AA Change: K251*
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 null
Transcript: ENSMUST00000107913
AA Change: K251*
|
SMART Domains |
Protein: ENSMUSP00000103546 Gene: ENSMUSG00000028464 AA Change: K251*
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 null
Transcript: ENSMUST00000107914
AA Change: K251*
|
SMART Domains |
Protein: ENSMUSP00000103547 Gene: ENSMUSG00000028464 AA Change: K251*
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: 40 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Apbb1ip |
T |
G |
2: 22,743,194 (GRCm39) |
I342S |
probably damaging |
Het |
Armh4 |
A |
T |
14: 50,005,923 (GRCm39) |
S591T |
probably damaging |
Het |
Atp6v1e1 |
T |
C |
6: 120,772,654 (GRCm39) |
|
probably benign |
Het |
Brwd1 |
A |
T |
16: 95,848,579 (GRCm39) |
C533* |
probably null |
Het |
Cacna2d4 |
A |
G |
6: 119,219,865 (GRCm39) |
S212G |
probably damaging |
Het |
Ccn5 |
A |
G |
2: 163,670,942 (GRCm39) |
R150G |
probably damaging |
Het |
Cit |
T |
C |
5: 116,011,902 (GRCm39) |
|
probably benign |
Het |
Clca3a1 |
C |
T |
3: 144,713,539 (GRCm39) |
M697I |
probably benign |
Het |
Cmklr1 |
T |
C |
5: 113,752,282 (GRCm39) |
T240A |
probably benign |
Het |
D630003M21Rik |
T |
C |
2: 158,059,276 (GRCm39) |
D208G |
probably benign |
Het |
Egr3 |
C |
A |
14: 70,316,732 (GRCm39) |
P143Q |
probably damaging |
Het |
Fbxw18 |
T |
A |
9: 109,530,675 (GRCm39) |
S41C |
probably damaging |
Het |
Focad |
T |
A |
4: 88,244,465 (GRCm39) |
I815N |
unknown |
Het |
Heatr5b |
T |
C |
17: 79,137,026 (GRCm39) |
T165A |
probably benign |
Het |
Iqub |
G |
T |
6: 24,505,627 (GRCm39) |
L94I |
probably benign |
Het |
Lrrc32 |
T |
C |
7: 98,147,583 (GRCm39) |
L121P |
probably damaging |
Het |
Mansc1 |
G |
A |
6: 134,594,289 (GRCm39) |
L118F |
probably damaging |
Het |
Mtor |
A |
G |
4: 148,615,214 (GRCm39) |
H1693R |
possibly damaging |
Het |
Muc5b |
A |
G |
7: 141,416,831 (GRCm39) |
Q3259R |
probably benign |
Het |
Nmnat2 |
A |
G |
1: 152,988,189 (GRCm39) |
S273G |
possibly damaging |
Het |
Npr2 |
T |
C |
4: 43,640,554 (GRCm39) |
C336R |
possibly damaging |
Het |
Or10al6 |
C |
T |
17: 38,083,122 (GRCm39) |
L193F |
probably damaging |
Het |
Or1f19 |
A |
G |
16: 3,410,848 (GRCm39) |
N196S |
possibly damaging |
Het |
Or1j11 |
A |
T |
2: 36,311,466 (GRCm39) |
I19F |
probably damaging |
Het |
Or56b1b |
A |
G |
7: 108,164,216 (GRCm39) |
V262A |
possibly damaging |
Het |
Or5aq1 |
A |
T |
2: 86,966,343 (GRCm39) |
Y107* |
probably null |
Het |
Or5d36 |
T |
C |
2: 87,901,468 (GRCm39) |
N86S |
possibly damaging |
Het |
Rad54l2 |
C |
T |
9: 106,579,971 (GRCm39) |
A967T |
probably damaging |
Het |
Rspo1 |
T |
C |
4: 124,898,829 (GRCm39) |
V50A |
possibly damaging |
Het |
Sar1b |
C |
T |
11: 51,682,274 (GRCm39) |
|
probably benign |
Het |
Scamp1 |
C |
T |
13: 94,340,530 (GRCm39) |
A280T |
probably damaging |
Het |
Spcs2 |
A |
G |
7: 99,488,911 (GRCm39) |
I251T |
probably benign |
Het |
Sspo |
G |
T |
6: 48,441,600 (GRCm39) |
|
probably null |
Het |
Ttn |
A |
G |
2: 76,571,250 (GRCm39) |
S26548P |
probably damaging |
Het |
Ugcg |
T |
G |
4: 59,213,865 (GRCm39) |
V149G |
possibly damaging |
Het |
Unc79 |
T |
A |
12: 103,045,177 (GRCm39) |
N784K |
probably damaging |
Het |
Vit |
A |
G |
17: 78,932,633 (GRCm39) |
D580G |
probably damaging |
Het |
Vmn1r83 |
T |
C |
7: 12,055,424 (GRCm39) |
K211R |
probably benign |
Het |
Zbtb3 |
A |
G |
19: 8,781,680 (GRCm39) |
Y431C |
probably damaging |
Het |
Zfp608 |
T |
C |
18: 55,032,083 (GRCm39) |
D619G |
possibly damaging |
Het |
|
Other mutations in Tpm2 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00773:Tpm2
|
APN |
4 |
43,518,251 (GRCm39) |
missense |
probably damaging |
1.00 |
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 |
2013-11-11 |