Incidental Mutation 'R3017:Lcmt1'
| ID |
257669 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Lcmt1
|
| Ensembl Gene |
ENSMUSG00000030763 |
| Gene Name |
leucine carboxyl methyltransferase 1 |
| Synonyms |
Lcmt, LCMT-1 |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R3017 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
122977026-123029581 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to G
at 123029359 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Tryptophan
at position 327
(L327W)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000145539
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000033025]
[ENSMUST00000206574]
|
| AlphaFold |
A0A0U1RNF2 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000033025
AA Change: L327W
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000033025
Gene: ENSMUSG00000030763
AA Change: L327W
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
3 |
16 |
N/A |
INTRINSIC |
|
Pfam:LCM
|
23 |
215 |
3.6e-41 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000206488
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000206574
AA Change: L327W
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000206727
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.8%
- 20x: 93.4%
|
| 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: 16 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aox4 |
T |
C |
1: 58,274,363 (GRCm39) |
V383A |
probably benign |
Het |
| Aplp1 |
A |
T |
7: 30,135,396 (GRCm39) |
|
probably null |
Het |
| Bahd1 |
C |
T |
2: 118,746,887 (GRCm39) |
P169S |
probably damaging |
Het |
| Gmnc |
G |
A |
16: 26,779,165 (GRCm39) |
H281Y |
probably benign |
Het |
| Gusb |
T |
C |
5: 130,029,325 (GRCm39) |
D152G |
probably damaging |
Het |
| Kcnk4 |
A |
T |
19: 6,905,162 (GRCm39) |
V163E |
probably damaging |
Het |
| Med18 |
G |
A |
4: 132,187,128 (GRCm39) |
R124C |
probably damaging |
Het |
| Odf1 |
A |
G |
15: 38,226,675 (GRCm39) |
T192A |
unknown |
Het |
| Pitpna |
C |
T |
11: 75,483,016 (GRCm39) |
R8W |
probably damaging |
Het |
| Pkn1 |
A |
G |
8: 84,396,799 (GRCm39) |
Y951H |
probably benign |
Het |
| Rad18 |
T |
C |
6: 112,658,327 (GRCm39) |
T193A |
possibly damaging |
Het |
| Ruvbl2 |
G |
T |
7: 45,071,588 (GRCm39) |
L432I |
probably damaging |
Het |
| Slco1a4 |
T |
C |
6: 141,758,396 (GRCm39) |
|
probably null |
Het |
| Tlr11 |
T |
A |
14: 50,600,178 (GRCm39) |
C721* |
probably null |
Het |
| Tubgcp6 |
A |
T |
15: 88,987,285 (GRCm39) |
C1229* |
probably null |
Het |
| Vmn2r114 |
ATTT |
ATT |
17: 23,509,906 (GRCm39) |
|
probably null |
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 |
|
R0668: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 |
|
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'- TGGACATTTACTGCAGAGAGCTC -3'
(R):5'- GGAACAGGATCTGGTGTGAC -3'
Sequencing Primer
(F):5'- CTGCAGAGAGCTCATAAAGTGTTATG -3'
(R):5'- GTGACCACCTTTGTAACCACGG -3'
|
| Posted On |
2015-01-11 |
Incidental Mutation