Incidental Mutation 'R0668:Lcmt1'
| ID |
62099 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Lcmt1
|
| Ensembl Gene |
ENSMUSG00000030763 |
| Gene Name |
leucine carboxyl methyltransferase 1 |
| Synonyms |
Lcmt, LCMT-1 |
| MMRRC Submission |
038853-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R0668 (G1)
|
| Quality Score |
198 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
122977026-123029581 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 123002094 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Asparagine
at position 120
(D120N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000145539
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000033025]
[ENSMUST00000206574]
[ENSMUST00000206721]
|
| AlphaFold |
A0A0U1RNF2 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000033025
AA Change: D120N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000033025
Gene: ENSMUSG00000030763
AA Change: D120N
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
3 |
16 |
N/A |
INTRINSIC |
|
Pfam:LCM
|
23 |
215 |
3.6e-41 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000206574
AA Change: D120N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000206721
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 96.6%
- 20x: 91.4%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] LCMT1 catalyzes the methylation of the carboxyl group of the C-terminal leucine residue (leu309) of the catalytic subunit of protein phosphatase-2A (PPP2CA; MIM 176915) (De Baere et al., 1999 [PubMed 10600115]).[supplied by OMIM, Mar 2008]
PHENOTYPE: Mice homozygous for a gene trap allele are embryonic lethal. Mice homozygous for a hypomorphic gene trap allele exhibit partial embryonic lethality, insulin resistance and impaired glucose tolerance. Mice homozygous for a transgenic gene disruption exhibit kidney agenesis. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 27 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca12 |
G |
T |
1: 71,302,773 (GRCm39) |
Q2149K |
probably damaging |
Het |
| Aifm1 |
T |
C |
X: 47,583,668 (GRCm39) |
Q210R |
probably benign |
Het |
| Arhgef1 |
A |
G |
7: 24,607,345 (GRCm39) |
N31D |
possibly damaging |
Het |
| Asic5 |
T |
A |
3: 81,928,308 (GRCm39) |
Y424N |
probably damaging |
Het |
| Bltp3a |
A |
T |
17: 28,114,913 (GRCm39) |
I1408F |
probably benign |
Het |
| Cfb |
G |
T |
17: 35,076,079 (GRCm39) |
Q1176K |
probably benign |
Het |
| Chdh |
A |
G |
14: 29,757,837 (GRCm39) |
H447R |
probably damaging |
Het |
| Cpd |
A |
C |
11: 76,675,224 (GRCm39) |
V1299G |
probably damaging |
Het |
| Dnase1l3 |
A |
G |
14: 7,968,086 (GRCm38) |
|
probably null |
Het |
| Dnhd1 |
A |
G |
7: 105,344,958 (GRCm39) |
T2101A |
probably benign |
Het |
| Efcab3 |
A |
T |
11: 104,611,318 (GRCm39) |
I387F |
probably benign |
Het |
| Fchsd2 |
A |
G |
7: 100,846,127 (GRCm39) |
K188E |
possibly damaging |
Het |
| Gm10549 |
A |
G |
18: 33,603,903 (GRCm39) |
T129A |
unknown |
Het |
| Jph1 |
T |
A |
1: 17,161,895 (GRCm39) |
T256S |
probably damaging |
Het |
| Kcnma1 |
A |
G |
14: 23,417,563 (GRCm39) |
Y768H |
probably damaging |
Het |
| Ly6g6d |
G |
A |
17: 35,290,715 (GRCm39) |
H72Y |
probably damaging |
Het |
| Myom3 |
A |
G |
4: 135,492,237 (GRCm39) |
D127G |
possibly damaging |
Het |
| Or10c1 |
T |
A |
17: 37,522,535 (GRCm39) |
I70F |
probably damaging |
Het |
| Pira13 |
G |
A |
7: 3,825,699 (GRCm39) |
T390I |
probably damaging |
Het |
| Sart1 |
T |
C |
19: 5,434,284 (GRCm39) |
Y249C |
probably damaging |
Het |
| Scin |
A |
G |
12: 40,130,948 (GRCm39) |
Y322H |
probably damaging |
Het |
| Slc44a3 |
T |
C |
3: 121,303,852 (GRCm39) |
T295A |
probably damaging |
Het |
| Slc4a5 |
T |
A |
6: 83,248,054 (GRCm39) |
L535Q |
probably damaging |
Het |
| Them5 |
A |
T |
3: 94,251,720 (GRCm39) |
K110N |
probably benign |
Het |
| Vmn1r32 |
T |
A |
6: 66,530,644 (GRCm39) |
Q44L |
possibly damaging |
Het |
| Vmn2r93 |
T |
A |
17: 18,518,667 (GRCm39) |
M42K |
probably benign |
Het |
| Zfp143 |
A |
T |
7: 109,660,481 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Lcmt1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01472:Lcmt1
|
APN |
7 |
123,027,376 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01536:Lcmt1
|
APN |
7 |
123,021,966 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
IGL01564:Lcmt1
|
APN |
7 |
123,003,663 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02598:Lcmt1
|
APN |
7 |
123,020,871 (GRCm39) |
splice site |
probably benign |
|
|
rancho
|
UTSW |
7 |
123,000,718 (GRCm39) |
missense |
probably benign |
0.03 |
|
relasso
|
UTSW |
7 |
123,000,691 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0665:Lcmt1
|
UTSW |
7 |
123,002,094 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0943:Lcmt1
|
UTSW |
7 |
123,000,662 (GRCm39) |
splice site |
probably null |
|
|
R1574:Lcmt1
|
UTSW |
7 |
123,002,131 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1574:Lcmt1
|
UTSW |
7 |
123,002,131 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2896:Lcmt1
|
UTSW |
7 |
123,020,809 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R3017:Lcmt1
|
UTSW |
7 |
123,029,359 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3547:Lcmt1
|
UTSW |
7 |
122,999,702 (GRCm39) |
missense |
probably benign |
0.07 |
|
R3714:Lcmt1
|
UTSW |
7 |
123,003,683 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4092:Lcmt1
|
UTSW |
7 |
123,017,476 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4628:Lcmt1
|
UTSW |
7 |
123,010,035 (GRCm39) |
nonsense |
probably null |
|
|
R5062:Lcmt1
|
UTSW |
7 |
123,010,053 (GRCm39) |
splice site |
probably null |
|
|
R5096:Lcmt1
|
UTSW |
7 |
123,000,691 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5549:Lcmt1
|
UTSW |
7 |
123,027,330 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5573:Lcmt1
|
UTSW |
7 |
123,000,686 (GRCm39) |
missense |
probably benign |
0.03 |
|
R5931:Lcmt1
|
UTSW |
7 |
123,020,839 (GRCm39) |
missense |
probably benign |
|
|
R6331:Lcmt1
|
UTSW |
7 |
122,977,405 (GRCm39) |
intron |
probably benign |
|
|
R7752:Lcmt1
|
UTSW |
7 |
122,969,030 (GRCm39) |
missense |
unknown |
|
|
R7784:Lcmt1
|
UTSW |
7 |
123,000,718 (GRCm39) |
missense |
probably benign |
0.03 |
|
R8447:Lcmt1
|
UTSW |
7 |
123,020,825 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8499:Lcmt1
|
UTSW |
7 |
123,029,371 (GRCm39) |
missense |
probably benign |
0.02 |
|
R8743:Lcmt1
|
UTSW |
7 |
122,999,691 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8962:Lcmt1
|
UTSW |
7 |
123,000,669 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9760:Lcmt1
|
UTSW |
7 |
123,029,375 (GRCm39) |
nonsense |
probably null |
|
|
RF013:Lcmt1
|
UTSW |
7 |
122,969,059 (GRCm39) |
frame shift |
probably null |
|
|
RF025:Lcmt1
|
UTSW |
7 |
122,969,057 (GRCm39) |
frame shift |
probably null |
|
|
RF046:Lcmt1
|
UTSW |
7 |
122,969,057 (GRCm39) |
frame shift |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TCTGACCATATGAGCCTCCTGACC -3'
(R):5'- AGCAGAAGACTCTCCTCTCCAGAAG -3'
Sequencing Primer
(F):5'- TATGAGCCTCCTGACCTAAAATC -3'
(R):5'- GCACTGACTGTTAAAGACTGC -3'
|
| Posted On |
2013-07-30 |
Incidental Mutation