Incidental Mutation 'IGL03255:Tmod2'
| ID |
414630 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Tmod2
|
| Ensembl Gene |
ENSMUSG00000032186 |
| Gene Name |
tropomodulin 2 |
| Synonyms |
neural tropomodulin, N-Tmod, NTMOD |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL03255
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
9 |
| Chromosomal Location |
75472903-75518607 bp(-) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
T to C
at 75484540 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000150413
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000064433]
[ENSMUST00000098552]
[ENSMUST00000164100]
[ENSMUST00000215036]
[ENSMUST00000215462]
[ENSMUST00000215614]
|
| AlphaFold |
Q9JKK7 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000064433
|
| SMART Domains |
Protein: ENSMUSP00000069956
Gene: ENSMUSG00000032186
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Tropomodulin
|
1 |
147 |
1.7e-68 |
PFAM |
|
PDB:1IO0|A
|
163 |
346 |
1e-80 |
PDB |
|
SCOP:d1yrga_
|
194 |
291 |
4e-3 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000098552
|
| SMART Domains |
Protein: ENSMUSP00000096152
Gene: ENSMUSG00000032186
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Tropomodulin
|
1 |
147 |
1.7e-68 |
PFAM |
|
PDB:1IO0|A
|
163 |
346 |
1e-80 |
PDB |
|
SCOP:d1yrga_
|
194 |
291 |
4e-3 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000164100
|
| SMART Domains |
Protein: ENSMUSP00000126739
Gene: ENSMUSG00000032186
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Tropomodulin
|
5 |
146 |
6.3e-59 |
PFAM |
|
PDB:1IO0|A
|
163 |
346 |
1e-80 |
PDB |
|
SCOP:d1yrga_
|
194 |
291 |
4e-3 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000215036
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000215462
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000215614
|
| 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 neuronal-specific member of the tropomodulin family of actin-regulatory proteins. The encoded protein caps the pointed end of actin filaments preventing both elongation and depolymerization. The capping activity of this protein is dependent on its association with tropomyosin. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Dec 2008]
PHENOTYPE: Homozygous mutation of this gene results in enhanced LTP, hyperactivity, impaired startle response, and impaired learning. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 27 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1600012P17Rik |
A |
G |
1: 158,796,921 (GRCm39) |
|
noncoding transcript |
Het |
| Alpk3 |
A |
G |
7: 80,742,310 (GRCm39) |
D709G |
probably benign |
Het |
| Capn3 |
G |
T |
2: 120,320,189 (GRCm39) |
R309L |
probably damaging |
Het |
| Card11 |
T |
C |
5: 140,884,086 (GRCm39) |
I398V |
possibly damaging |
Het |
| Cps1 |
T |
A |
1: 67,184,960 (GRCm39) |
Y162* |
probably null |
Het |
| Defa26 |
A |
T |
8: 22,108,257 (GRCm39) |
D20V |
probably damaging |
Het |
| Defa39 |
T |
C |
8: 22,193,534 (GRCm39) |
T29A |
possibly damaging |
Het |
| Dnah8 |
T |
G |
17: 30,960,355 (GRCm39) |
L2244R |
probably damaging |
Het |
| Fhad1 |
T |
A |
4: 141,700,191 (GRCm39) |
N353I |
possibly damaging |
Het |
| Flt1 |
T |
A |
5: 147,525,331 (GRCm39) |
|
probably benign |
Het |
| Glyr1 |
G |
A |
16: 4,866,621 (GRCm39) |
|
probably null |
Het |
| Gm10220 |
A |
G |
5: 26,321,899 (GRCm39) |
S258P |
possibly damaging |
Het |
| Lama3 |
A |
T |
18: 12,672,760 (GRCm39) |
D845V |
probably damaging |
Het |
| Myh2 |
T |
A |
11: 67,084,051 (GRCm39) |
L1558Q |
probably damaging |
Het |
| Nelfb |
G |
T |
2: 25,093,207 (GRCm39) |
H482N |
probably benign |
Het |
| Or5ae1 |
T |
C |
7: 84,565,725 (GRCm39) |
L246P |
possibly damaging |
Het |
| Or5p58 |
A |
G |
7: 107,694,024 (GRCm39) |
V251A |
probably damaging |
Het |
| Ppfia2 |
A |
G |
10: 106,732,368 (GRCm39) |
T972A |
possibly damaging |
Het |
| Slc5a4a |
G |
A |
10: 75,986,346 (GRCm39) |
V85M |
probably damaging |
Het |
| Slc6a12 |
T |
G |
6: 121,331,246 (GRCm39) |
C166G |
probably damaging |
Het |
| Tm7sf3 |
T |
C |
6: 146,507,618 (GRCm39) |
|
probably benign |
Het |
| Tmem94 |
G |
T |
11: 115,682,894 (GRCm39) |
|
probably benign |
Het |
| Tmprss11c |
T |
A |
5: 86,419,341 (GRCm39) |
I73F |
probably damaging |
Het |
| Vmn1r10 |
A |
G |
6: 57,090,911 (GRCm39) |
M168V |
probably benign |
Het |
| Vmn2r77 |
T |
A |
7: 86,461,131 (GRCm39) |
M819K |
probably benign |
Het |
| Vmo1 |
C |
T |
11: 70,405,236 (GRCm39) |
|
probably null |
Het |
| Ywhab |
A |
G |
2: 163,855,936 (GRCm39) |
D104G |
probably benign |
Het |
|
| Other mutations in Tmod2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01477:Tmod2
|
APN |
9 |
75,502,283 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02732:Tmod2
|
APN |
9 |
75,493,454 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
PIT4581001:Tmod2
|
UTSW |
9 |
75,504,583 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0589:Tmod2
|
UTSW |
9 |
75,484,041 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0723:Tmod2
|
UTSW |
9 |
75,502,337 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R1721:Tmod2
|
UTSW |
9 |
75,493,324 (GRCm39) |
splice site |
probably benign |
|
|
R2056:Tmod2
|
UTSW |
9 |
75,484,524 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2119:Tmod2
|
UTSW |
9 |
75,493,377 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R2248:Tmod2
|
UTSW |
9 |
75,499,931 (GRCm39) |
missense |
probably benign |
0.03 |
|
R4522:Tmod2
|
UTSW |
9 |
75,499,866 (GRCm39) |
missense |
probably benign |
0.10 |
|
R4755:Tmod2
|
UTSW |
9 |
75,504,494 (GRCm39) |
nonsense |
probably null |
|
|
R7149:Tmod2
|
UTSW |
9 |
75,489,167 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
R7363:Tmod2
|
UTSW |
9 |
75,484,023 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9182:Tmod2
|
UTSW |
9 |
75,504,624 (GRCm39) |
start gained |
probably benign |
|
|
| Posted On |
2016-08-02 |
Incidental Mutation