Incidental Mutation 'IGL01013:Lmod2'
| ID |
53618 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Lmod2
|
| Ensembl Gene |
ENSMUSG00000029683 |
| Gene Name |
leiomodin 2 (cardiac) |
| Synonyms |
C-Lmod |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.114)
|
| Stock # |
IGL01013
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
6 |
| Chromosomal Location |
24597770-24605413 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 24604134 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Lysine
at position 370
(Q370K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000031694
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031694]
|
| AlphaFold |
Q3UHZ5 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000031694
AA Change: Q370K
PolyPhen 2
Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000031694
Gene: ENSMUSG00000029683
AA Change: Q370K
| 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 |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| 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: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aasdh |
T |
A |
5: 77,034,053 (GRCm39) |
E499D |
possibly damaging |
Het |
| Abca1 |
A |
T |
4: 53,038,185 (GRCm39) |
L2059* |
probably null |
Het |
| Ankar |
T |
A |
1: 72,690,148 (GRCm39) |
I1228F |
possibly damaging |
Het |
| Appl1 |
A |
T |
14: 26,671,433 (GRCm39) |
Y340N |
possibly damaging |
Het |
| Atp8b4 |
C |
A |
2: 126,165,007 (GRCm39) |
R1103L |
probably benign |
Het |
| B4galt6 |
A |
G |
18: 20,822,070 (GRCm39) |
V308A |
probably damaging |
Het |
| Ccdc162 |
G |
A |
10: 41,457,335 (GRCm39) |
P1534L |
probably benign |
Het |
| Ccdc78 |
A |
G |
17: 26,008,028 (GRCm39) |
E313G |
possibly damaging |
Het |
| Cep57l1 |
G |
A |
10: 41,616,865 (GRCm39) |
R141* |
probably null |
Het |
| Cpsf1 |
G |
A |
15: 76,483,497 (GRCm39) |
Q883* |
probably null |
Het |
| Crot |
A |
G |
5: 9,043,575 (GRCm39) |
Y16H |
probably benign |
Het |
| Cyld |
T |
G |
8: 89,468,990 (GRCm39) |
L587R |
probably damaging |
Het |
| Fam114a1 |
G |
A |
5: 65,188,738 (GRCm39) |
|
probably null |
Het |
| Fam89b |
G |
T |
19: 5,779,397 (GRCm39) |
D53E |
probably benign |
Het |
| Fig4 |
T |
C |
10: 41,143,782 (GRCm39) |
M226V |
probably benign |
Het |
| Gm10722 |
A |
T |
9: 3,002,230 (GRCm39) |
Y184F |
probably damaging |
Het |
| Hp |
C |
A |
8: 110,305,653 (GRCm39) |
|
probably benign |
Het |
| Igsf9b |
G |
T |
9: 27,245,600 (GRCm39) |
R1189L |
probably damaging |
Het |
| Ilf3 |
A |
G |
9: 21,310,987 (GRCm39) |
N620D |
possibly damaging |
Het |
| Jakmip3 |
A |
C |
7: 138,619,302 (GRCm39) |
E228A |
possibly damaging |
Het |
| Kpna3 |
A |
T |
14: 61,607,966 (GRCm39) |
I413K |
probably damaging |
Het |
| Letm1 |
A |
T |
5: 33,919,934 (GRCm39) |
C202S |
possibly damaging |
Het |
| Map4k5 |
T |
C |
12: 69,874,300 (GRCm39) |
|
probably benign |
Het |
| Mcidas |
T |
A |
13: 113,134,119 (GRCm39) |
|
probably benign |
Het |
| Mme |
A |
G |
3: 63,235,281 (GRCm39) |
|
probably null |
Het |
| Mrc1 |
T |
C |
2: 14,333,236 (GRCm39) |
W1306R |
probably damaging |
Het |
| Mthfd1l |
C |
A |
10: 3,980,716 (GRCm39) |
Q473K |
probably damaging |
Het |
| Muc6 |
A |
T |
7: 141,234,333 (GRCm39) |
C719* |
probably null |
Het |
| Nsun7 |
T |
C |
5: 66,440,944 (GRCm39) |
I355T |
possibly damaging |
Het |
| Padi6 |
A |
G |
4: 140,456,314 (GRCm39) |
L560P |
probably damaging |
Het |
| Parl |
C |
A |
16: 20,101,540 (GRCm39) |
A285S |
possibly damaging |
Het |
| Pclo |
A |
T |
5: 14,843,848 (GRCm39) |
M4795L |
unknown |
Het |
| Polr2f |
A |
G |
15: 79,030,329 (GRCm39) |
Y56C |
probably damaging |
Het |
| Rasgrp2 |
A |
T |
19: 6,454,413 (GRCm39) |
H152L |
probably damaging |
Het |
| Rpl10l |
T |
C |
12: 66,331,001 (GRCm39) |
D44G |
probably benign |
Het |
| Slc25a16 |
A |
G |
10: 62,780,212 (GRCm39) |
|
probably null |
Het |
| Snrnp200 |
G |
A |
2: 127,074,392 (GRCm39) |
E1411K |
probably damaging |
Het |
| Tanc2 |
G |
A |
11: 105,515,891 (GRCm39) |
R3Q |
probably damaging |
Het |
| Tbc1d32 |
G |
T |
10: 56,078,055 (GRCm39) |
|
probably null |
Het |
| Tcf7l2 |
T |
C |
19: 55,908,059 (GRCm39) |
|
probably benign |
Het |
| Tnrc6c |
G |
T |
11: 117,612,855 (GRCm39) |
V498L |
probably benign |
Het |
| Tymp |
G |
A |
15: 89,260,513 (GRCm39) |
H102Y |
probably damaging |
Het |
| Wdr76 |
T |
C |
2: 121,365,978 (GRCm39) |
S492P |
probably benign |
Het |
| Zc3h12d |
T |
C |
10: 7,715,720 (GRCm39) |
I41T |
probably damaging |
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 |
|
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 |
|
P0035:Lmod2
|
UTSW |
6 |
24,597,885 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
2013-06-28 |
Incidental Mutation