Incidental Mutation 'IGL01104:Lmod1'
| ID |
50275 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Lmod1
|
| Ensembl Gene |
ENSMUSG00000048096 |
| Gene Name |
leiomodin 1 (smooth muscle) |
| Synonyms |
9530015K06Rik, SM-Lmod, 1D, D1, 64kD D1 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.075)
|
| Stock # |
IGL01104
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
1 |
| Chromosomal Location |
135252551-135295803 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 135292522 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Isoleucine
at position 459
(T459I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000061597
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000059352]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000059352
AA Change: T459I
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000061597
Gene: ENSMUSG00000048096
AA Change: T459I
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Tropomodulin
|
5 |
127 |
1e-19 |
PFAM |
|
low complexity region
|
177 |
190 |
N/A |
INTRINSIC |
|
low complexity region
|
202 |
220 |
N/A |
INTRINSIC |
|
PDB:1IO0|A
|
296 |
467 |
5e-35 |
PDB |
|
SCOP:d1a4ya_
|
311 |
445 |
7e-5 |
SMART |
|
low complexity region
|
469 |
483 |
N/A |
INTRINSIC |
|
low complexity region
|
500 |
523 |
N/A |
INTRINSIC |
|
low complexity region
|
526 |
540 |
N/A |
INTRINSIC |
|
WH2
|
569 |
588 |
1.05e-3 |
SMART |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The leiomodin 1 protein has a putative membrane-spanning region and 2 types of tandemly repeated blocks. The transcript is expressed in all tissues tested, with the highest levels in thyroid, eye muscle, skeletal muscle, and ovary. Increased expression of leiomodin 1 may be linked to Graves' disease and thyroid-associated ophthalmopathy. [provided by RefSeq, Jul 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Agap1 |
T |
A |
1: 89,653,797 (GRCm39) |
|
probably benign |
Het |
| AU015836 |
A |
T |
X: 93,015,493 (GRCm39) |
D15V |
probably damaging |
Het |
| Capns2 |
G |
T |
8: 93,628,383 (GRCm39) |
D91Y |
probably damaging |
Het |
| Chd6 |
C |
T |
2: 160,803,847 (GRCm39) |
R2071Q |
probably damaging |
Het |
| Col4a4 |
G |
T |
1: 82,444,266 (GRCm39) |
P1334T |
unknown |
Het |
| Dusp12 |
T |
G |
1: 170,702,042 (GRCm39) |
H319P |
probably damaging |
Het |
| Emilin3 |
A |
T |
2: 160,751,703 (GRCm39) |
V112E |
probably damaging |
Het |
| Eya3 |
T |
A |
4: 132,439,240 (GRCm39) |
F455L |
probably damaging |
Het |
| F10 |
G |
A |
8: 13,105,686 (GRCm39) |
G417D |
probably damaging |
Het |
| Fat3 |
A |
C |
9: 16,287,024 (GRCm39) |
V833G |
possibly damaging |
Het |
| Fat3 |
A |
T |
9: 15,909,756 (GRCm39) |
L2082H |
probably damaging |
Het |
| Golga5 |
T |
A |
12: 102,460,073 (GRCm39) |
M667K |
probably damaging |
Het |
| Gpr50 |
T |
A |
X: 70,710,833 (GRCm39) |
L305H |
probably damaging |
Het |
| Grhl1 |
A |
G |
12: 24,634,453 (GRCm39) |
K217R |
probably damaging |
Het |
| Itgb2 |
A |
G |
10: 77,383,028 (GRCm39) |
|
probably null |
Het |
| Jag1 |
T |
A |
2: 136,926,298 (GRCm39) |
I1035L |
probably benign |
Het |
| Kdm2a |
A |
G |
19: 4,406,766 (GRCm39) |
|
probably benign |
Het |
| Lima1 |
A |
C |
15: 99,741,581 (GRCm39) |
S32A |
probably damaging |
Het |
| Mtch1 |
T |
C |
17: 29,555,196 (GRCm39) |
D284G |
probably damaging |
Het |
| Mtus2 |
C |
T |
5: 148,013,819 (GRCm39) |
|
probably null |
Het |
| Or7c19 |
A |
G |
8: 85,957,813 (GRCm39) |
T230A |
probably benign |
Het |
| Ppl |
T |
C |
16: 4,912,355 (GRCm39) |
Q742R |
probably benign |
Het |
| Reln |
T |
C |
5: 22,191,965 (GRCm39) |
R1492G |
probably damaging |
Het |
| Rsad1 |
T |
C |
11: 94,434,466 (GRCm39) |
T323A |
possibly damaging |
Het |
| Slc22a8 |
A |
G |
19: 8,585,329 (GRCm39) |
T293A |
possibly damaging |
Het |
| Smc4 |
T |
C |
3: 68,934,917 (GRCm39) |
I677T |
possibly damaging |
Het |
| Ufd1 |
T |
C |
16: 18,633,587 (GRCm39) |
F4S |
probably damaging |
Het |
| Usp9x |
T |
C |
X: 13,027,142 (GRCm39) |
V16A |
probably damaging |
Het |
| Vmn2r31 |
A |
T |
7: 7,399,565 (GRCm39) |
C131S |
probably damaging |
Het |
| Vmn2r65 |
A |
G |
7: 84,589,996 (GRCm39) |
I640T |
possibly damaging |
Het |
| Vwf |
T |
C |
6: 125,660,519 (GRCm39) |
C2676R |
probably damaging |
Het |
|
| Other mutations in Lmod1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00324:Lmod1
|
APN |
1 |
135,292,216 (GRCm39) |
missense |
probably benign |
0.05 |
|
IGL02606:Lmod1
|
APN |
1 |
135,292,218 (GRCm39) |
missense |
probably benign |
0.09 |
|
IGL03373:Lmod1
|
APN |
1 |
135,292,264 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R0513:Lmod1
|
UTSW |
1 |
135,252,906 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1185:Lmod1
|
UTSW |
1 |
135,291,967 (GRCm39) |
missense |
probably benign |
|
|
R1185:Lmod1
|
UTSW |
1 |
135,291,967 (GRCm39) |
missense |
probably benign |
|
|
R1185:Lmod1
|
UTSW |
1 |
135,291,967 (GRCm39) |
missense |
probably benign |
|
|
R1572:Lmod1
|
UTSW |
1 |
135,291,671 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1728:Lmod1
|
UTSW |
1 |
135,291,811 (GRCm39) |
missense |
probably benign |
0.10 |
|
R1729:Lmod1
|
UTSW |
1 |
135,291,811 (GRCm39) |
missense |
probably benign |
0.10 |
|
R1730:Lmod1
|
UTSW |
1 |
135,291,811 (GRCm39) |
missense |
probably benign |
0.10 |
|
R1739:Lmod1
|
UTSW |
1 |
135,291,811 (GRCm39) |
missense |
probably benign |
0.10 |
|
R1762:Lmod1
|
UTSW |
1 |
135,291,811 (GRCm39) |
missense |
probably benign |
0.10 |
|
R1783:Lmod1
|
UTSW |
1 |
135,291,811 (GRCm39) |
missense |
probably benign |
0.10 |
|
R1784:Lmod1
|
UTSW |
1 |
135,291,811 (GRCm39) |
missense |
probably benign |
0.10 |
|
R1785:Lmod1
|
UTSW |
1 |
135,291,811 (GRCm39) |
missense |
probably benign |
0.10 |
|
R1795:Lmod1
|
UTSW |
1 |
135,252,862 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2044:Lmod1
|
UTSW |
1 |
135,292,125 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2355:Lmod1
|
UTSW |
1 |
135,292,253 (GRCm39) |
missense |
probably benign |
0.28 |
|
R2568:Lmod1
|
UTSW |
1 |
135,291,702 (GRCm39) |
nonsense |
probably null |
|
|
R2937:Lmod1
|
UTSW |
1 |
135,291,654 (GRCm39) |
missense |
probably benign |
0.11 |
|
R2938:Lmod1
|
UTSW |
1 |
135,291,654 (GRCm39) |
missense |
probably benign |
0.11 |
|
R6108:Lmod1
|
UTSW |
1 |
135,291,849 (GRCm39) |
missense |
probably benign |
0.43 |
|
R6823:Lmod1
|
UTSW |
1 |
135,252,905 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6872:Lmod1
|
UTSW |
1 |
135,292,879 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7954:Lmod1
|
UTSW |
1 |
135,252,794 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8407:Lmod1
|
UTSW |
1 |
135,291,763 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8407:Lmod1
|
UTSW |
1 |
135,292,734 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R8527:Lmod1
|
UTSW |
1 |
135,292,221 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
R8542:Lmod1
|
UTSW |
1 |
135,292,221 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
| Posted On |
2013-06-21 |
Incidental Mutation