Incidental Mutation 'IGL02279:Lmod3'
| ID |
289786 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Lmod3
|
| Ensembl Gene |
ENSMUSG00000044086 |
| Gene Name |
leiomodin 3 (fetal) |
| Synonyms |
5430424A14Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.081)
|
| Stock # |
IGL02279
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
6 |
| Chromosomal Location |
97215495-97229720 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 97224633 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 396
(V396A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000093315
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000095655]
|
| AlphaFold |
E9QA62 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000095655
AA Change: V396A
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000093315
Gene: ENSMUSG00000044086
AA Change: V396A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Tropomodulin
|
8 |
177 |
1.2e-13 |
PFAM |
|
PDB:1IO0|A
|
248 |
406 |
9e-46 |
PDB |
|
SCOP:d1a4ya_
|
261 |
358 |
1e-3 |
SMART |
|
low complexity region
|
407 |
427 |
N/A |
INTRINSIC |
|
| 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 a member of the leiomodin family of proteins. This protein contains three actin-binding domains, a tropomyosin domain, a leucine-rich repeat domain, and a Wiskott-Aldrich syndrome protein homology 2 domain (WH2). Localization of this protein to the pointed ends of thin filaments has been observed, and there is evidence that this protein acts as a catalyst of actin nucleation, and is important to the organization of sarcomeric thin filaments in skeletal muscles. Mutations in this gene have been associated as one cause of Nemaline myopathy, as other genes have also been linked to this disorder. Nemaline myopathy is a disorder characterized by nonprogressive generalized muscle weakness and protein inclusions (nemaline bodies) in skeletal myofibers. Patients with mutations in this gene often present with a severe congenital form of the disorder. [provided by RefSeq, Jan 2015]
PHENOTYPE: Mice homozygous for an endonuclease-mediated mutation are runted and exhibit nemaline myopathy including a reduction in skeletal myofiber size, centrally nucleated skeletal muscle fibers, increase in skeletal muscle glycogen levels, and abnormal sarcomere and Z lines. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 18 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb10 |
T |
C |
8: 124,681,100 (GRCm39) |
S699G |
probably benign |
Het |
| Ak2 |
C |
T |
4: 128,893,030 (GRCm39) |
A63V |
probably benign |
Het |
| Bckdha |
T |
C |
7: 25,330,534 (GRCm39) |
Y354C |
probably damaging |
Het |
| Ess2 |
T |
C |
16: 17,720,775 (GRCm39) |
E357G |
possibly damaging |
Het |
| Fmod |
T |
A |
1: 133,968,235 (GRCm39) |
C92S |
probably damaging |
Het |
| Gdpd1 |
T |
C |
11: 86,964,727 (GRCm39) |
Y26C |
probably benign |
Het |
| Gpr45 |
T |
C |
1: 43,071,998 (GRCm39) |
S214P |
probably damaging |
Het |
| Lpcat3 |
A |
G |
6: 124,675,072 (GRCm39) |
Y64C |
probably damaging |
Het |
| Nrdc |
T |
A |
4: 108,881,391 (GRCm39) |
|
probably benign |
Het |
| Or5i1 |
C |
T |
2: 87,613,576 (GRCm39) |
R231C |
probably damaging |
Het |
| Or6n2 |
T |
A |
1: 173,896,957 (GRCm39) |
L31Q |
probably null |
Het |
| Or8c16 |
T |
C |
9: 38,130,389 (GRCm39) |
V90A |
probably benign |
Het |
| Pcnt |
T |
C |
10: 76,239,599 (GRCm39) |
D1296G |
probably damaging |
Het |
| Pitpnm1 |
T |
A |
19: 4,151,207 (GRCm39) |
I8N |
probably damaging |
Het |
| Sel1l |
T |
C |
12: 91,781,771 (GRCm39) |
N538S |
probably damaging |
Het |
| Srrm2 |
T |
G |
17: 24,034,306 (GRCm39) |
|
probably benign |
Het |
| Svs3b |
G |
T |
2: 164,098,124 (GRCm39) |
Q66K |
possibly damaging |
Het |
| Ttn |
T |
A |
2: 76,640,634 (GRCm39) |
K11959* |
probably null |
Het |
|
| Other mutations in Lmod3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00427:Lmod3
|
APN |
6 |
97,229,258 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL00465:Lmod3
|
APN |
6 |
97,224,822 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01401:Lmod3
|
APN |
6 |
97,229,513 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02621:Lmod3
|
APN |
6 |
97,215,796 (GRCm39) |
utr 3 prime |
probably benign |
|
|
IGL03116:Lmod3
|
APN |
6 |
97,224,156 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
Runted
|
UTSW |
6 |
97,224,234 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0086:Lmod3
|
UTSW |
6 |
97,224,306 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0627:Lmod3
|
UTSW |
6 |
97,225,032 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R2208:Lmod3
|
UTSW |
6 |
97,224,838 (GRCm39) |
missense |
probably benign |
0.06 |
|
R4038:Lmod3
|
UTSW |
6 |
97,225,275 (GRCm39) |
missense |
probably benign |
0.06 |
|
R4913:Lmod3
|
UTSW |
6 |
97,224,125 (GRCm39) |
splice site |
probably null |
|
|
R5867:Lmod3
|
UTSW |
6 |
97,224,963 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5905:Lmod3
|
UTSW |
6 |
97,224,575 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6035:Lmod3
|
UTSW |
6 |
97,224,234 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6035:Lmod3
|
UTSW |
6 |
97,224,234 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6183:Lmod3
|
UTSW |
6 |
97,229,514 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6210:Lmod3
|
UTSW |
6 |
97,224,262 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6527:Lmod3
|
UTSW |
6 |
97,224,339 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7225:Lmod3
|
UTSW |
6 |
97,224,345 (GRCm39) |
missense |
probably benign |
0.34 |
|
R7531:Lmod3
|
UTSW |
6 |
97,225,403 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7908:Lmod3
|
UTSW |
6 |
97,225,434 (GRCm39) |
missense |
probably benign |
0.05 |
|
R8022:Lmod3
|
UTSW |
6 |
97,225,260 (GRCm39) |
missense |
probably benign |
|
|
R8154:Lmod3
|
UTSW |
6 |
97,224,941 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8325:Lmod3
|
UTSW |
6 |
97,224,379 (GRCm39) |
missense |
probably benign |
0.06 |
|
R9149:Lmod3
|
UTSW |
6 |
97,224,625 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2015-04-16 |
Incidental Mutation