Incidental Mutation 'IGL00324:Lmod1'
ID |
7369 |
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 # |
IGL00324
|
Quality Score |
|
Status
|
|
Chromosome |
1 |
Chromosomal Location |
135252551-135295803 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 135292216 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Lysine to Arginine
at position 357
(K357R)
|
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: K357R
PolyPhen 2
Score 0.050 (Sensitivity: 0.94; Specificity: 0.83)
|
SMART Domains |
Protein: ENSMUSP00000061597 Gene: ENSMUSG00000048096 AA Change: K357R
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: 30 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcd3 |
T |
C |
3: 121,570,642 (GRCm39) |
|
probably benign |
Het |
Cdk12 |
T |
A |
11: 98,136,214 (GRCm39) |
L1156Q |
unknown |
Het |
Ctsl |
T |
C |
13: 64,515,982 (GRCm39) |
Y66C |
probably damaging |
Het |
Esd |
C |
T |
14: 74,973,467 (GRCm39) |
H21Y |
probably damaging |
Het |
Fcrlb |
A |
C |
1: 170,736,393 (GRCm39) |
Y128D |
possibly damaging |
Het |
Gm17027 |
A |
T |
14: 41,981,267 (GRCm39) |
N196K |
unknown |
Het |
Gm4553 |
T |
C |
7: 141,718,964 (GRCm39) |
S155G |
unknown |
Het |
Hpcal1 |
A |
G |
12: 17,841,146 (GRCm39) |
S175G |
probably benign |
Het |
Itgam |
A |
T |
7: 127,684,833 (GRCm39) |
D401V |
probably damaging |
Het |
Kank1 |
A |
G |
19: 25,389,122 (GRCm39) |
T932A |
probably benign |
Het |
Muc4 |
A |
G |
16: 32,599,186 (GRCm39) |
I3271V |
probably benign |
Het |
Nlrc5 |
A |
G |
8: 95,248,107 (GRCm39) |
K1692E |
probably damaging |
Het |
Ocln |
A |
G |
13: 100,671,521 (GRCm39) |
W279R |
probably damaging |
Het |
Or4p20 |
T |
C |
2: 88,254,130 (GRCm39) |
I80V |
probably benign |
Het |
Pcsk1 |
A |
G |
13: 75,280,206 (GRCm39) |
K677R |
probably benign |
Het |
Pitrm1 |
T |
A |
13: 6,618,702 (GRCm39) |
L586Q |
probably damaging |
Het |
Plppr3 |
G |
A |
10: 79,702,503 (GRCm39) |
S217L |
probably damaging |
Het |
Pnldc1 |
A |
T |
17: 13,124,645 (GRCm39) |
|
probably benign |
Het |
Pramel12 |
T |
A |
4: 143,143,237 (GRCm39) |
M1K |
probably null |
Het |
Pramel13 |
A |
G |
4: 144,121,310 (GRCm39) |
L238P |
possibly damaging |
Het |
Sema6b |
C |
T |
17: 56,437,048 (GRCm39) |
D204N |
probably damaging |
Het |
Slc12a5 |
A |
G |
2: 164,839,041 (GRCm39) |
N1063S |
probably damaging |
Het |
Tg |
T |
C |
15: 66,565,273 (GRCm39) |
V1205A |
probably benign |
Het |
Tmem260 |
T |
C |
14: 48,724,336 (GRCm39) |
F205L |
probably benign |
Het |
Trappc11 |
A |
T |
8: 47,956,337 (GRCm39) |
|
probably benign |
Het |
Tsen34 |
A |
G |
7: 3,703,530 (GRCm39) |
*296W |
probably null |
Het |
Ubr2 |
A |
G |
17: 47,296,986 (GRCm39) |
|
probably benign |
Het |
Vmn2r23 |
T |
A |
6: 123,706,684 (GRCm39) |
W505R |
possibly damaging |
Het |
Wbp11 |
A |
G |
6: 136,798,668 (GRCm39) |
|
probably benign |
Het |
Znfx1 |
A |
T |
2: 166,878,649 (GRCm39) |
M1909K |
possibly damaging |
Het |
|
Other mutations in Lmod1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
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 |
|
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 |
2012-04-20 |