Incidental Mutation 'P0035:Lmod2'
| ID |
7753 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Lmod2
|
| Ensembl Gene |
ENSMUSG00000029683 |
| Gene Name |
leiomodin 2 (cardiac) |
| Synonyms |
C-Lmod |
| MMRRC Submission |
038285-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.114)
|
| Stock # |
P0035 (G1)
|
| Quality Score |
|
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
24597770-24605413 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 24597885 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 2
(S2P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000031694
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031694]
|
| AlphaFold |
Q3UHZ5 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000031694
AA Change: S2P
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000031694
Gene: ENSMUSG00000029683
AA Change: S2P
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Tropomodulin
|
6 |
153 |
9.7e-19 |
PFAM |
|
PDB:1IO0|A
|
202 |
360 |
5e-45 |
PDB |
|
low complexity region
|
361 |
374 |
N/A |
INTRINSIC |
|
low complexity region
|
403 |
414 |
N/A |
INTRINSIC |
|
low complexity region
|
421 |
453 |
N/A |
INTRINSIC |
|
low complexity region
|
482 |
490 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000202403
|
| Meta Mutation Damage Score |
0.1215 |
| Coding Region Coverage |
- 1x: 79.0%
- 3x: 68.4%
- 10x: 37.5%
- 20x: 15.8%
|
| Validation Efficiency |
82% (103/125) |
| MGI Phenotype |
PHENOTYPE: Homozygous disruption of this gene results in thin filaments in the heart, cardiac contractile dysfunction, abnormal myocardial fiber ultrastucture, dilated cardiomyopathy, and premature death. [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 |
|---|
| Brd4 |
C |
T |
17: 32,431,812 (GRCm39) |
|
probably null |
Het |
| Bub1b |
G |
A |
2: 118,452,666 (GRCm39) |
E440K |
probably damaging |
Het |
| Cfap70 |
A |
G |
14: 20,474,539 (GRCm39) |
|
probably benign |
Het |
| Cryba2 |
A |
G |
1: 74,929,171 (GRCm39) |
S191P |
probably damaging |
Het |
| Dsg3 |
A |
C |
18: 20,673,026 (GRCm39) |
N899T |
probably benign |
Het |
| Htr2b |
A |
T |
1: 86,038,452 (GRCm39) |
H51Q |
probably benign |
Het |
| Lrrc37a |
T |
A |
11: 103,393,958 (GRCm39) |
E489V |
possibly damaging |
Het |
| Mdn1 |
A |
T |
4: 32,749,934 (GRCm39) |
Q4372H |
probably benign |
Het |
| Med13l |
C |
T |
5: 118,880,685 (GRCm39) |
T1259I |
probably benign |
Het |
| Muc4 |
T |
C |
16: 32,580,622 (GRCm39) |
|
probably benign |
Het |
| Pcsk2 |
C |
T |
2: 143,637,871 (GRCm39) |
T369I |
probably damaging |
Het |
| Pggt1b |
G |
C |
18: 46,392,787 (GRCm39) |
H121Q |
probably damaging |
Het |
| Pkhd1 |
T |
C |
1: 20,187,571 (GRCm39) |
D3579G |
probably benign |
Het |
| Psd |
T |
C |
19: 46,309,400 (GRCm39) |
E520G |
possibly damaging |
Het |
| Scfd2 |
A |
T |
5: 74,385,980 (GRCm39) |
M613K |
possibly damaging |
Het |
| Tbc1d32 |
A |
C |
10: 56,074,535 (GRCm39) |
F226C |
probably damaging |
Het |
| Ttc8 |
T |
C |
12: 98,942,675 (GRCm39) |
|
probably benign |
Het |
| Zfp462 |
T |
C |
4: 55,009,086 (GRCm39) |
S351P |
probably benign |
Het |
|
| Other mutations in Lmod2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00340:Lmod2
|
APN |
6 |
24,598,051 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01013:Lmod2
|
APN |
6 |
24,604,134 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL02164:Lmod2
|
APN |
6 |
24,603,909 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
IGL02328:Lmod2
|
APN |
6 |
24,603,832 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02956:Lmod2
|
APN |
6 |
24,603,631 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03213:Lmod2
|
APN |
6 |
24,603,615 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
IGL03351:Lmod2
|
APN |
6 |
24,598,015 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1764:Lmod2
|
UTSW |
6 |
24,603,376 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R3104:Lmod2
|
UTSW |
6 |
24,604,471 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3955:Lmod2
|
UTSW |
6 |
24,603,870 (GRCm39) |
missense |
probably benign |
0.02 |
|
R4410:Lmod2
|
UTSW |
6 |
24,604,629 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4876:Lmod2
|
UTSW |
6 |
24,604,278 (GRCm39) |
missense |
probably benign |
0.06 |
|
R4957:Lmod2
|
UTSW |
6 |
24,603,871 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
R5509:Lmod2
|
UTSW |
6 |
24,603,888 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5655:Lmod2
|
UTSW |
6 |
24,603,853 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R6114:Lmod2
|
UTSW |
6 |
24,603,691 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6462:Lmod2
|
UTSW |
6 |
24,604,300 (GRCm39) |
missense |
probably benign |
0.06 |
|
R6834:Lmod2
|
UTSW |
6 |
24,597,782 (GRCm39) |
start gained |
probably benign |
|
|
R6869:Lmod2
|
UTSW |
6 |
24,604,126 (GRCm39) |
missense |
probably benign |
0.06 |
|
R6909:Lmod2
|
UTSW |
6 |
24,604,157 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6918:Lmod2
|
UTSW |
6 |
24,603,594 (GRCm39) |
missense |
probably benign |
0.23 |
|
R7352:Lmod2
|
UTSW |
6 |
24,598,110 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R7425:Lmod2
|
UTSW |
6 |
24,603,475 (GRCm39) |
missense |
probably benign |
|
|
R7476:Lmod2
|
UTSW |
6 |
24,597,920 (GRCm39) |
nonsense |
probably null |
|
|
R7986:Lmod2
|
UTSW |
6 |
24,603,448 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R8417:Lmod2
|
UTSW |
6 |
24,603,384 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R9063:Lmod2
|
UTSW |
6 |
24,603,364 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9286:Lmod2
|
UTSW |
6 |
24,603,712 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9326:Lmod2
|
UTSW |
6 |
24,597,999 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9461:Lmod2
|
UTSW |
6 |
24,603,568 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9716:Lmod2
|
UTSW |
6 |
24,604,182 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R9780:Lmod2
|
UTSW |
6 |
24,604,233 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2012-10-29 |
Incidental Mutation