Incidental Mutation 'IGL03375:Tpm3'
| ID |
420455 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Tpm3
|
| Ensembl Gene |
ENSMUSG00000027940 |
| Gene Name |
tropomyosin 3, gamma |
| Synonyms |
hTM30nm, Tpm-5, skalphaTM.2, Trop-5, gamma-TM, hTMnm, Tm5NM, Tpm5 |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL03375
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
3 |
| Chromosomal Location |
89979958-90008209 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 89981079 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 56
(E56G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000113578
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000119570]
[ENSMUST00000121503]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000104803
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000119570
AA Change: E57G
PolyPhen 2
Score 0.161 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000113978
Gene: ENSMUSG00000027940
AA Change: E57G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Tropomyosin_1
|
8 |
154 |
4.2e-35 |
PFAM |
|
Pfam:CLZ
|
10 |
75 |
1.2e-9 |
PFAM |
|
Pfam:Tropomyosin
|
49 |
285 |
3.7e-91 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000121503
AA Change: E56G
PolyPhen 2
Score 0.832 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000113578
Gene: ENSMUSG00000027940
AA Change: E56G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Tropomyosin_1
|
7 |
153 |
1.3e-36 |
PFAM |
|
Pfam:Tropomyosin
|
48 |
284 |
4.7e-103 |
PFAM |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the tropomyosin family of actin-binding proteins. Tropomyosins are dimers of coiled-coil proteins that provide stability to actin filaments and regulate access of other actin-binding proteins. Mutations in this gene result in autosomal dominant nemaline myopathy and other muscle disorders. This locus is involved in translocations with other loci, including anaplastic lymphoma receptor tyrosine kinase (ALK) and neurotrophic tyrosine kinase receptor type 1 (NTRK1), which result in the formation of fusion proteins that act as oncogenes. There are numerous pseudogenes for this gene on different chromosomes. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2013]
PHENOTYPE: Homozygous inactivation of this gene results in early embryonic death, prior to blastocyst formation. Mice homozygous for a targeted allele lacking exon 9 exhibit dysmorphic T-tubules and contraction in skeletal muscles. [provided by MGI curators]
|
| Allele List at MGI |
All alleles(76) : Targeted(5) Gene trapped(71)
|
| Other mutations in this stock |
Total: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Arhgap31 |
A |
G |
16: 38,423,190 (GRCm39) |
S959P |
probably damaging |
Het |
| Arrb2 |
G |
A |
11: 70,327,005 (GRCm39) |
G24D |
probably damaging |
Het |
| Catsper4 |
A |
G |
4: 133,945,519 (GRCm39) |
I180T |
probably damaging |
Het |
| Chst15 |
G |
A |
7: 131,872,186 (GRCm39) |
Q32* |
probably null |
Het |
| Cntnap5c |
A |
T |
17: 58,469,200 (GRCm39) |
Y594F |
possibly damaging |
Het |
| Cse1l |
T |
A |
2: 166,784,977 (GRCm39) |
|
probably benign |
Het |
| Dab1 |
A |
T |
4: 104,538,798 (GRCm39) |
I201F |
possibly damaging |
Het |
| Eif2ak4 |
T |
C |
2: 118,252,799 (GRCm39) |
V457A |
probably benign |
Het |
| Fkbp1b |
T |
C |
12: 4,888,220 (GRCm39) |
|
probably benign |
Het |
| Fryl |
C |
A |
5: 73,245,792 (GRCm39) |
V1122F |
possibly damaging |
Het |
| Gas2l2 |
A |
G |
11: 83,317,036 (GRCm39) |
|
probably benign |
Het |
| Gstt2 |
A |
T |
10: 75,668,655 (GRCm39) |
|
probably null |
Het |
| H4c14 |
T |
C |
3: 96,170,458 (GRCm39) |
T55A |
possibly damaging |
Het |
| Hcst |
T |
G |
7: 30,118,036 (GRCm39) |
|
probably benign |
Het |
| Hectd4 |
A |
G |
5: 121,466,445 (GRCm39) |
E2420G |
possibly damaging |
Het |
| Ifi206 |
A |
T |
1: 173,308,344 (GRCm39) |
S551T |
probably benign |
Het |
| Itgb3bp |
A |
G |
4: 99,657,724 (GRCm39) |
|
probably benign |
Het |
| Krtap6-2 |
A |
G |
16: 89,216,644 (GRCm39) |
Y108H |
unknown |
Het |
| Krtap6-5 |
T |
G |
16: 88,844,740 (GRCm39) |
|
probably benign |
Het |
| Muc5b |
A |
G |
7: 141,415,699 (GRCm39) |
T2882A |
possibly damaging |
Het |
| Nup214 |
C |
T |
2: 31,900,233 (GRCm39) |
T854M |
probably damaging |
Het |
| Olfml2b |
A |
G |
1: 170,477,401 (GRCm39) |
K179E |
probably benign |
Het |
| Or10d1b |
A |
G |
9: 39,613,871 (GRCm39) |
S65P |
probably damaging |
Het |
| Or4k37 |
A |
T |
2: 111,159,229 (GRCm39) |
H155L |
probably damaging |
Het |
| Per2 |
A |
T |
1: 91,351,950 (GRCm39) |
I852K |
possibly damaging |
Het |
| Pkhd1 |
A |
T |
1: 20,187,247 (GRCm39) |
I3687N |
probably damaging |
Het |
| Slc7a2 |
A |
T |
8: 41,369,410 (GRCm39) |
S622C |
probably damaging |
Het |
| Smarcc2 |
G |
A |
10: 128,318,781 (GRCm39) |
V719I |
probably damaging |
Het |
| Syne2 |
T |
C |
12: 75,972,209 (GRCm39) |
I1033T |
possibly damaging |
Het |
| Tmod1 |
T |
C |
4: 46,096,999 (GRCm39) |
I264T |
probably damaging |
Het |
| Tmtc3 |
G |
A |
10: 100,283,581 (GRCm39) |
A658V |
possibly damaging |
Het |
| Top6bl |
T |
C |
19: 4,748,206 (GRCm39) |
E164G |
probably benign |
Het |
| Tra2b |
T |
C |
16: 22,065,993 (GRCm39) |
|
probably benign |
Het |
| Trmu |
T |
A |
15: 85,779,138 (GRCm39) |
Y262N |
possibly damaging |
Het |
| Uox |
C |
T |
3: 146,331,590 (GRCm39) |
T213I |
probably damaging |
Het |
| Vps13d |
A |
G |
4: 144,818,517 (GRCm39) |
W2R |
probably damaging |
Het |
|
| Other mutations in Tpm3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00481:Tpm3
|
APN |
3 |
89,995,024 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL00949:Tpm3
|
APN |
3 |
89,997,165 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01955:Tpm3
|
APN |
3 |
89,995,742 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL01970:Tpm3
|
APN |
3 |
89,997,135 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02605:Tpm3
|
APN |
3 |
89,995,753 (GRCm39) |
missense |
probably benign |
0.13 |
|
IGL03352:Tpm3
|
APN |
3 |
89,995,052 (GRCm39) |
critical splice donor site |
probably null |
|
|
P0045:Tpm3
|
UTSW |
3 |
89,998,400 (GRCm39) |
critical splice donor site |
probably null |
|
|
R0006:Tpm3
|
UTSW |
3 |
89,994,968 (GRCm39) |
splice site |
probably benign |
|
|
R0006:Tpm3
|
UTSW |
3 |
89,994,968 (GRCm39) |
splice site |
probably benign |
|
|
R0024:Tpm3
|
UTSW |
3 |
89,994,756 (GRCm39) |
splice site |
probably null |
|
|
R0086:Tpm3
|
UTSW |
3 |
89,997,399 (GRCm39) |
unclassified |
probably benign |
|
|
R1487:Tpm3
|
UTSW |
3 |
89,997,389 (GRCm39) |
splice site |
probably null |
|
|
R5235:Tpm3
|
UTSW |
3 |
89,993,802 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6639:Tpm3
|
UTSW |
3 |
89,987,109 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7089:Tpm3
|
UTSW |
3 |
89,980,029 (GRCm39) |
start gained |
probably benign |
|
|
R7212:Tpm3
|
UTSW |
3 |
89,998,361 (GRCm39) |
missense |
probably benign |
|
|
R7867:Tpm3
|
UTSW |
3 |
89,993,775 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8322:Tpm3
|
UTSW |
3 |
89,981,011 (GRCm39) |
intron |
probably benign |
|
|
R8701:Tpm3
|
UTSW |
3 |
89,994,987 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R9167:Tpm3
|
UTSW |
3 |
89,994,824 (GRCm39) |
missense |
probably benign |
0.13 |
|
X0020:Tpm3
|
UTSW |
3 |
89,994,881 (GRCm39) |
critical splice donor site |
probably null |
|
|
| Posted On |
2016-08-02 |
Incidental Mutation