Incidental Mutation 'R4410:Lmod2'
| ID |
327854 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Lmod2
|
| Ensembl Gene |
ENSMUSG00000029683 |
| Gene Name |
leiomodin 2 (cardiac) |
| Synonyms |
C-Lmod |
| MMRRC Submission |
041692-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.114)
|
| Stock # |
R4410 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
24597770-24605413 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to C
at 24604629 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Arginine
at position 535
(S535R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000031694
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031694]
|
| AlphaFold |
Q3UHZ5 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000031694
AA Change: S535R
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000031694
Gene: ENSMUSG00000029683
AA Change: S535R
| 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 |
|
| Meta Mutation Damage Score |
0.1544 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.0%
|
| Validation Efficiency |
96% (46/48) |
| 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: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Arhgap39 |
A |
T |
15: 76,609,712 (GRCm39) |
|
probably benign |
Het |
| Arrb1 |
G |
T |
7: 99,247,503 (GRCm39) |
|
probably benign |
Het |
| Cadps |
A |
G |
14: 12,822,323 (GRCm38) |
M139T |
probably damaging |
Het |
| Casr |
A |
G |
16: 36,320,703 (GRCm39) |
C482R |
probably benign |
Het |
| Cdca4 |
A |
T |
12: 112,785,499 (GRCm39) |
H76Q |
probably benign |
Het |
| Ddias |
A |
G |
7: 92,507,287 (GRCm39) |
L876P |
probably benign |
Het |
| Dnah9 |
T |
C |
11: 65,976,303 (GRCm39) |
S1249G |
possibly damaging |
Het |
| Dnttip1 |
A |
G |
2: 164,609,739 (GRCm39) |
|
probably benign |
Het |
| Eme2 |
A |
G |
17: 25,112,598 (GRCm39) |
S160P |
probably benign |
Het |
| Fbxw24 |
A |
T |
9: 109,437,256 (GRCm39) |
D210E |
probably damaging |
Het |
| Folr2 |
T |
C |
7: 101,489,881 (GRCm39) |
E129G |
probably damaging |
Het |
| Herc6 |
T |
A |
6: 57,636,664 (GRCm39) |
N793K |
possibly damaging |
Het |
| Iqcg |
T |
G |
16: 32,851,186 (GRCm39) |
K262Q |
possibly damaging |
Het |
| Lhfpl3 |
A |
G |
5: 22,980,690 (GRCm39) |
|
probably benign |
Het |
| Lrp1b |
T |
A |
2: 40,555,094 (GRCm39) |
S342C |
possibly damaging |
Het |
| Lrrn3 |
T |
A |
12: 41,502,583 (GRCm39) |
Y578F |
possibly damaging |
Het |
| Map3k4 |
T |
A |
17: 12,467,885 (GRCm39) |
R1050W |
probably damaging |
Het |
| Muc6 |
T |
A |
7: 141,217,576 (GRCm39) |
T2301S |
possibly damaging |
Het |
| Mycbp2 |
T |
C |
14: 103,372,702 (GRCm39) |
E4048G |
probably damaging |
Het |
| Myh3 |
G |
C |
11: 66,975,858 (GRCm39) |
E297Q |
possibly damaging |
Het |
| Nkain3 |
A |
G |
4: 20,778,284 (GRCm39) |
V11A |
probably benign |
Het |
| Or4c102 |
G |
A |
2: 88,422,765 (GRCm39) |
V206I |
probably benign |
Het |
| P3h2 |
G |
C |
16: 25,924,040 (GRCm39) |
R132G |
possibly damaging |
Het |
| Pals2 |
C |
T |
6: 50,175,248 (GRCm39) |
Q520* |
probably null |
Het |
| Phgdh |
A |
G |
3: 98,221,591 (GRCm39) |
M447T |
probably benign |
Het |
| Pmfbp1 |
G |
A |
8: 110,258,695 (GRCm39) |
A667T |
probably benign |
Het |
| Pramel41 |
A |
T |
5: 94,593,720 (GRCm39) |
Q15L |
probably benign |
Het |
| Psmd2 |
T |
G |
16: 20,473,776 (GRCm39) |
C230G |
probably damaging |
Het |
| Rin2 |
C |
T |
2: 145,702,366 (GRCm39) |
T354I |
probably benign |
Het |
| Slc37a3 |
T |
A |
6: 39,315,747 (GRCm39) |
Y443F |
probably benign |
Het |
| Sorl1 |
C |
A |
9: 41,915,288 (GRCm39) |
G1314* |
probably null |
Het |
| Spag7 |
T |
C |
11: 70,555,688 (GRCm39) |
D83G |
probably damaging |
Het |
| St7 |
C |
T |
6: 17,854,932 (GRCm39) |
R267* |
probably null |
Het |
| Syne2 |
C |
T |
12: 76,141,167 (GRCm39) |
S99L |
probably damaging |
Het |
| Tacc2 |
T |
G |
7: 130,343,941 (GRCm39) |
S2533R |
possibly damaging |
Het |
| Tmem59l |
A |
G |
8: 70,939,951 (GRCm39) |
L6S |
unknown |
Het |
| Uaca |
T |
G |
9: 60,777,173 (GRCm39) |
V518G |
probably damaging |
Het |
| Usp43 |
T |
C |
11: 67,746,716 (GRCm39) |
E992G |
probably benign |
Het |
| Vmn1r55 |
A |
G |
7: 5,150,075 (GRCm39) |
V116A |
probably benign |
Het |
| Wdr3 |
G |
A |
3: 100,047,543 (GRCm39) |
T844M |
probably benign |
Het |
| Wdr7 |
T |
A |
18: 63,911,320 (GRCm39) |
M904K |
probably damaging |
Het |
| Zbtb39 |
A |
G |
10: 127,578,696 (GRCm39) |
I423M |
possibly damaging |
Het |
| Zmym1 |
A |
T |
4: 126,941,897 (GRCm39) |
C830* |
probably null |
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 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- GTCATTAAACAACAGGAAAGTGCC -3'
(R):5'- ATTCGTTCTCACCATCAGGG -3'
Sequencing Primer
(F):5'- GCGCGCCCTACAAAATGG -3'
(R):5'- GTACCCACCCTAGTGCTCACATG -3'
|
| Posted On |
2015-07-07 |
Incidental Mutation