Incidental Mutation 'R7954:Lmod1'
| ID |
649697 |
| 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 |
045998-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.075)
|
| Stock # |
R7954 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
1 |
| Chromosomal Location |
135252551-135295803 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to C
at 135252794 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Alanine
at position 16
(D16A)
|
| 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: D16A
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000061597
Gene: ENSMUSG00000048096
AA Change: D16A
| 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 |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.8%
|
| 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: 50 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aatk |
C |
T |
11: 119,903,169 (GRCm39) |
C409Y |
possibly damaging |
Het |
| Acsm2 |
C |
T |
7: 119,179,952 (GRCm39) |
T390I |
probably damaging |
Het |
| Adam20 |
T |
C |
8: 41,249,581 (GRCm39) |
Y564H |
probably damaging |
Het |
| Adcy6 |
A |
G |
15: 98,494,773 (GRCm39) |
|
probably null |
Het |
| Alms1 |
T |
C |
6: 85,598,144 (GRCm39) |
V990A |
probably damaging |
Het |
| Anapc2 |
T |
A |
2: 25,164,712 (GRCm39) |
V318E |
probably damaging |
Het |
| Ano6 |
G |
T |
15: 95,863,702 (GRCm39) |
A741S |
possibly damaging |
Het |
| Apc |
A |
G |
18: 34,447,321 (GRCm39) |
S1406G |
probably damaging |
Het |
| Cemip2 |
T |
A |
19: 21,770,264 (GRCm39) |
I84N |
probably damaging |
Het |
| Cfi |
G |
A |
3: 129,662,234 (GRCm39) |
|
probably null |
Het |
| Clcn1 |
A |
T |
6: 42,263,625 (GRCm39) |
|
probably benign |
Het |
| Crygs |
C |
T |
16: 22,624,082 (GRCm39) |
R175H |
probably damaging |
Het |
| Dnmbp |
A |
T |
19: 43,890,742 (GRCm39) |
W342R |
probably benign |
Het |
| Dok5 |
T |
A |
2: 170,674,993 (GRCm39) |
|
probably null |
Het |
| Eno3 |
T |
C |
11: 70,552,006 (GRCm39) |
I284T |
probably benign |
Het |
| Ep400 |
T |
C |
5: 110,816,599 (GRCm39) |
T2767A |
possibly damaging |
Het |
| Epb41l4b |
A |
G |
4: 57,088,034 (GRCm39) |
V162A |
probably damaging |
Het |
| Fat3 |
A |
G |
9: 15,909,708 (GRCm39) |
I2098T |
probably damaging |
Het |
| Fbxl13 |
T |
C |
5: 21,748,767 (GRCm39) |
N384S |
probably benign |
Het |
| Fbxo9 |
A |
G |
9: 78,008,826 (GRCm39) |
L78P |
probably benign |
Het |
| Glis1 |
G |
A |
4: 107,476,854 (GRCm39) |
R525H |
possibly damaging |
Het |
| Gpr15 |
T |
G |
16: 58,539,047 (GRCm39) |
D14A |
probably benign |
Het |
| Gpr156 |
T |
C |
16: 37,807,920 (GRCm39) |
I189T |
probably damaging |
Het |
| H6pd |
T |
C |
4: 150,067,283 (GRCm39) |
I376V |
probably benign |
Het |
| Hs6st3 |
T |
C |
14: 120,106,522 (GRCm39) |
V310A |
probably damaging |
Het |
| Htr1b |
A |
G |
9: 81,513,998 (GRCm39) |
L203P |
probably damaging |
Het |
| Kif26b |
A |
T |
1: 178,696,944 (GRCm39) |
I531F |
probably damaging |
Het |
| Krtcap3 |
T |
C |
5: 31,410,015 (GRCm39) |
L166P |
probably damaging |
Het |
| Lrp2 |
T |
G |
2: 69,333,867 (GRCm39) |
N1458T |
possibly damaging |
Het |
| Mocs1 |
G |
A |
17: 49,761,799 (GRCm39) |
G631E |
possibly damaging |
Het |
| Nop14 |
G |
A |
5: 34,807,729 (GRCm39) |
P411L |
probably benign |
Het |
| Nr2f1 |
A |
C |
13: 78,338,113 (GRCm39) |
D334E |
probably damaging |
Het |
| Or5al7 |
A |
G |
2: 85,993,212 (GRCm39) |
L27P |
probably damaging |
Het |
| Or5p51 |
T |
C |
7: 107,444,119 (GRCm39) |
N274D |
probably benign |
Het |
| Paqr9 |
G |
A |
9: 95,442,681 (GRCm39) |
V224M |
probably damaging |
Het |
| Pkd2l1 |
T |
C |
19: 44,142,651 (GRCm39) |
T464A |
probably benign |
Het |
| Prss58 |
T |
C |
6: 40,872,543 (GRCm39) |
R188G |
possibly damaging |
Het |
| Rapgef2 |
G |
A |
3: 78,977,454 (GRCm39) |
R1150* |
probably null |
Het |
| Rgs22 |
A |
C |
15: 36,082,148 (GRCm39) |
F653V |
possibly damaging |
Het |
| Spata2 |
T |
C |
2: 167,325,857 (GRCm39) |
T321A |
probably benign |
Het |
| St3gal1 |
A |
T |
15: 66,984,422 (GRCm39) |
F118I |
probably damaging |
Het |
| Styxl2 |
C |
T |
1: 165,926,849 (GRCm39) |
S921N |
probably benign |
Het |
| Tasor |
T |
C |
14: 27,169,481 (GRCm39) |
|
probably null |
Het |
| Tex35 |
C |
T |
1: 156,927,742 (GRCm39) |
D143N |
probably damaging |
Het |
| Tll1 |
G |
A |
8: 64,571,568 (GRCm39) |
T171I |
probably damaging |
Het |
| Umodl1 |
A |
T |
17: 31,205,361 (GRCm39) |
Q652L |
probably benign |
Het |
| Usp54 |
A |
G |
14: 20,611,981 (GRCm39) |
L945P |
probably benign |
Het |
| Vars1 |
A |
G |
17: 35,234,960 (GRCm39) |
H1263R |
probably benign |
Het |
| Vmn1r202 |
A |
T |
13: 22,685,871 (GRCm39) |
M182K |
probably benign |
Het |
| Vmn1r78 |
T |
A |
7: 11,887,227 (GRCm39) |
C279* |
probably null |
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 |
|
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TAGTACAGCAGGGCCCAAAG -3'
(R):5'- AAGGGTTTCTAGTCCTGGAGTC -3'
Sequencing Primer
(F):5'- AGCTGCAGTGCTCACCTAG -3'
(R):5'- ACAGACATCTCTCTCTGGATGAG -3'
|
| Posted On |
2020-09-15 |
Incidental Mutation