Incidental Mutation 'IGL02328:Lmod2'
| ID |
288570 |
| 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 # |
IGL02328
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
6 |
| Chromosomal Location |
24597770-24605413 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 24603832 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 269
(D269G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000031694
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031694]
|
| AlphaFold |
Q3UHZ5 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000031694
AA Change: D269G
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000031694
Gene: ENSMUSG00000029683
AA Change: D269G
| 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: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrv1 |
T |
A |
13: 81,726,294 (GRCm39) |
N577I |
probably damaging |
Het |
| Arhgef1 |
T |
C |
7: 24,623,240 (GRCm39) |
L667P |
probably damaging |
Het |
| Btk |
G |
A |
X: 133,459,449 (GRCm39) |
P192L |
probably damaging |
Het |
| Col12a1 |
T |
A |
9: 79,589,348 (GRCm39) |
Y1069F |
probably damaging |
Het |
| Dnah7a |
C |
T |
1: 53,564,096 (GRCm39) |
|
probably null |
Het |
| E230025N22Rik |
A |
G |
18: 36,828,667 (GRCm39) |
S4P |
probably damaging |
Het |
| Ei24 |
A |
T |
9: 36,696,827 (GRCm39) |
|
probably null |
Het |
| Foxred2 |
A |
G |
15: 77,840,032 (GRCm39) |
L86P |
probably damaging |
Het |
| Gm3127 |
A |
T |
14: 15,424,989 (GRCm39) |
R42W |
probably damaging |
Het |
| Hgf |
A |
G |
5: 16,803,219 (GRCm39) |
Y377C |
probably damaging |
Het |
| Hpse2 |
A |
T |
19: 42,920,038 (GRCm39) |
L354I |
probably damaging |
Het |
| Hspa4 |
A |
G |
11: 53,190,885 (GRCm39) |
|
probably null |
Het |
| Iqcg |
T |
G |
16: 32,839,876 (GRCm39) |
I357L |
probably benign |
Het |
| Itsn1 |
T |
C |
16: 91,612,295 (GRCm39) |
L204P |
probably damaging |
Het |
| Kalrn |
T |
C |
16: 34,152,594 (GRCm39) |
N311S |
probably damaging |
Het |
| Med16 |
A |
G |
10: 79,743,376 (GRCm39) |
S29P |
probably damaging |
Het |
| Mex3b |
T |
C |
7: 82,518,920 (GRCm39) |
S412P |
probably benign |
Het |
| Myo15a |
A |
G |
11: 60,417,433 (GRCm39) |
I3443V |
probably benign |
Het |
| Naip2 |
A |
T |
13: 100,297,877 (GRCm39) |
L720I |
probably damaging |
Het |
| Or1e26 |
A |
G |
11: 73,480,081 (GRCm39) |
V161A |
probably benign |
Het |
| Or4z4 |
T |
A |
19: 12,076,146 (GRCm39) |
I286F |
probably damaging |
Het |
| Or52ab4 |
A |
T |
7: 102,987,497 (GRCm39) |
I79F |
probably damaging |
Het |
| Or6c213 |
T |
C |
10: 129,573,895 (GRCm39) |
D297G |
probably benign |
Het |
| Or8b1b |
A |
T |
9: 38,375,972 (GRCm39) |
I212F |
probably benign |
Het |
| Pan3 |
A |
G |
5: 147,466,933 (GRCm39) |
|
probably null |
Het |
| Pitpnm2 |
T |
C |
5: 124,259,477 (GRCm39) |
Q1286R |
probably damaging |
Het |
| Scgb2b24 |
A |
G |
7: 33,438,050 (GRCm39) |
|
probably benign |
Het |
| Sh2b3 |
T |
C |
5: 121,955,922 (GRCm39) |
D520G |
probably benign |
Het |
| Skint4 |
T |
A |
4: 111,977,255 (GRCm39) |
I215N |
possibly damaging |
Het |
| Slc24a5 |
A |
G |
2: 124,922,559 (GRCm39) |
D107G |
probably damaging |
Het |
| Slit2 |
T |
C |
5: 48,387,646 (GRCm39) |
I549T |
probably damaging |
Het |
| Stambp |
A |
G |
6: 83,533,363 (GRCm39) |
L300P |
possibly damaging |
Het |
| Taf2 |
T |
C |
15: 54,891,772 (GRCm39) |
N1017S |
probably benign |
Het |
| Tm9sf2 |
T |
G |
14: 122,380,842 (GRCm39) |
V145G |
possibly damaging |
Het |
| Tor1aip2 |
G |
T |
1: 155,940,720 (GRCm39) |
C342F |
probably damaging |
Het |
| Ubr4 |
C |
T |
4: 139,206,233 (GRCm39) |
T4823M |
probably damaging |
Het |
| Vmn1r80 |
G |
T |
7: 11,927,405 (GRCm39) |
A172S |
probably benign |
Het |
| Vmn2r67 |
T |
A |
7: 84,799,898 (GRCm39) |
N447Y |
probably benign |
Het |
| Zbtb1 |
A |
G |
12: 76,433,450 (GRCm39) |
N479D |
possibly 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 |
|
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 |
|
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 |
2015-04-16 |
Incidental Mutation