Incidental Mutation 'R1185:Lmod1'
ID |
165235 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Lmod1
|
Ensembl Gene |
ENSMUSG00000048096 |
Gene Name |
leiomodin 1 (smooth muscle) |
Synonyms |
9530015K06Rik, SM-Lmod, 1D, D1, 64kD D1 |
MMRRC Submission |
039257-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.075)
|
Stock # |
R1185 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
1 |
Chromosomal Location |
135252551-135295803 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 135291967 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glycine
at position 274
(D274G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000061597
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000059352]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably benign
Transcript: ENSMUST00000059352
AA Change: D274G
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000061597 Gene: ENSMUSG00000048096 AA Change: D274G
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 |
|
Meta Mutation Damage Score |
0.0898 |
Coding Region Coverage |
- 1x: 99.6%
- 3x: 98.3%
- 10x: 93.0%
- 20x: 79.2%
|
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: 40 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ac165356.1 |
C |
T |
7: 105,682,686 (GRCm39) |
A190T |
probably benign |
Het |
Aimp2 |
A |
G |
5: 143,841,509 (GRCm39) |
S110P |
possibly damaging |
Het |
Akap9 |
A |
G |
5: 3,998,783 (GRCm39) |
T51A |
probably benign |
Het |
Arhgef25 |
A |
G |
10: 127,019,650 (GRCm39) |
F430L |
possibly damaging |
Het |
Brap |
T |
C |
5: 121,813,342 (GRCm39) |
V235A |
probably damaging |
Het |
Cd69 |
C |
T |
6: 129,247,148 (GRCm39) |
G23D |
probably damaging |
Het |
Cecr2 |
C |
T |
6: 120,735,166 (GRCm39) |
R24* |
probably null |
Het |
Celsr2 |
T |
C |
3: 108,307,025 (GRCm39) |
D1974G |
possibly damaging |
Het |
Cps1 |
A |
G |
1: 67,234,358 (GRCm39) |
K915R |
probably benign |
Het |
Csmd1 |
T |
C |
8: 16,408,362 (GRCm39) |
D401G |
probably damaging |
Het |
Dusp13b |
A |
G |
14: 21,785,086 (GRCm39) |
F141S |
probably damaging |
Het |
Eif1ad19 |
A |
G |
12: 87,740,478 (GRCm39) |
V27A |
probably benign |
Het |
Fam162b |
A |
G |
10: 51,466,439 (GRCm39) |
W27R |
probably benign |
Het |
Focad |
A |
G |
4: 88,096,424 (GRCm39) |
T269A |
probably benign |
Het |
Ghr |
T |
A |
15: 3,357,544 (GRCm39) |
R241S |
possibly damaging |
Het |
Hirip3 |
AAGAG |
AAG |
7: 126,462,832 (GRCm39) |
|
probably null |
Het |
Itgb2l |
A |
G |
16: 96,230,240 (GRCm39) |
Y357H |
possibly damaging |
Het |
Jrkl |
T |
C |
9: 13,244,938 (GRCm39) |
D241G |
possibly damaging |
Het |
Lrrn2 |
A |
G |
1: 132,866,959 (GRCm39) |
S675G |
probably benign |
Het |
Ltbp4 |
G |
C |
7: 27,009,960 (GRCm39) |
P1200R |
probably damaging |
Het |
Mdn1 |
T |
C |
4: 32,735,576 (GRCm39) |
L3414P |
possibly damaging |
Het |
Muc19 |
A |
G |
15: 91,762,743 (GRCm39) |
|
noncoding transcript |
Het |
Neb |
A |
G |
2: 52,186,310 (GRCm39) |
Y921H |
probably damaging |
Het |
Or2n1c |
T |
A |
17: 38,520,074 (GRCm39) |
*313R |
probably null |
Het |
Pgap3 |
T |
C |
11: 98,281,960 (GRCm39) |
D117G |
probably damaging |
Het |
Ppp1r9b |
T |
C |
11: 94,892,812 (GRCm39) |
F671L |
possibly damaging |
Het |
Purg |
T |
G |
8: 33,876,897 (GRCm39) |
Y178* |
probably null |
Het |
Rsph10b |
G |
A |
5: 143,903,280 (GRCm39) |
|
probably benign |
Het |
Sorbs1 |
T |
A |
19: 40,371,050 (GRCm39) |
D79V |
probably damaging |
Het |
Tcaf3 |
T |
C |
6: 42,568,368 (GRCm39) |
T663A |
probably damaging |
Het |
Timd4 |
C |
A |
11: 46,708,475 (GRCm39) |
T167K |
probably damaging |
Het |
Tjp2 |
A |
G |
19: 24,108,527 (GRCm39) |
L195P |
possibly damaging |
Het |
Tnr |
G |
A |
1: 159,679,856 (GRCm39) |
A277T |
probably benign |
Het |
Trpm3 |
G |
A |
19: 22,891,781 (GRCm39) |
|
probably benign |
Het |
Unc13a |
C |
T |
8: 72,114,477 (GRCm39) |
G181D |
probably benign |
Het |
Vmn1r11 |
T |
A |
6: 57,114,492 (GRCm39) |
L52Q |
possibly damaging |
Het |
Vmn2r125 |
C |
A |
4: 156,703,396 (GRCm39) |
A258D |
probably benign |
Het |
Zfp27 |
T |
C |
7: 29,595,254 (GRCm39) |
D237G |
possibly damaging |
Het |
Zfp39 |
T |
C |
11: 58,793,670 (GRCm39) |
T23A |
possibly damaging |
Het |
Zfp459 |
T |
G |
13: 67,556,600 (GRCm39) |
N161T |
probably benign |
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 |
IGL01104:Lmod1
|
APN |
1 |
135,292,522 (GRCm39) |
missense |
probably damaging |
1.00 |
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 |
|
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 |
135,292,734 (GRCm39) |
missense |
possibly damaging |
0.94 |
R8407:Lmod1
|
UTSW |
1 |
135,291,763 (GRCm39) |
missense |
probably benign |
0.01 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- GCGTTTTAAAGAAAAGCTTCTCCAGGG -3'
(R):5'- GCAGTCTGAGTTGTTGACGTTCACC -3'
Sequencing Primer
(F):5'- AAGCTTCTCCAGGGATCGAG -3'
(R):5'- CTCTGTCATCTCTGGGTCGTTG -3'
|
Posted On |
2014-03-28 |