Incidental Mutation 'R5573:Lcmt1'
| ID |
435779 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Lcmt1
|
| Ensembl Gene |
ENSMUSG00000030763 |
| Gene Name |
leucine carboxyl methyltransferase 1 |
| Synonyms |
Lcmt, LCMT-1 |
| MMRRC Submission |
043128-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R5573 (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 A
at 123000686 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Glutamine
at position 117
(H117Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000146184
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000033025]
[ENSMUST00000206574]
[ENSMUST00000206721]
|
| AlphaFold |
A0A0U1RNF2 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000033025
AA Change: H73Q
PolyPhen 2
Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
|
| SMART Domains |
Protein: ENSMUSP00000033025
Gene: ENSMUSG00000030763
AA Change: H73Q
| 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 benign
Transcript: ENSMUST00000206574
AA Change: H73Q
PolyPhen 2
Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000206721
AA Change: H117Q
PolyPhen 2
Score 0.026 (Sensitivity: 0.95; Specificity: 0.81)
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.3%
- 20x: 94.9%
|
| 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: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Arhgef28 |
A |
T |
13: 98,065,999 (GRCm39) |
V1618D |
probably benign |
Het |
| Asic5 |
T |
A |
3: 81,911,791 (GRCm39) |
F129Y |
probably benign |
Het |
| Cachd1 |
A |
C |
4: 100,831,276 (GRCm39) |
K689N |
probably damaging |
Het |
| Cbfa2t2 |
A |
G |
2: 154,278,782 (GRCm39) |
|
probably benign |
Het |
| Cdh26 |
T |
C |
2: 178,108,482 (GRCm39) |
V360A |
probably damaging |
Het |
| Col9a3 |
C |
T |
2: 180,261,525 (GRCm39) |
A605V |
probably benign |
Het |
| Csn3 |
A |
G |
5: 88,077,910 (GRCm39) |
T139A |
probably benign |
Het |
| Ddx27 |
G |
T |
2: 166,859,806 (GRCm39) |
K79N |
possibly damaging |
Het |
| Dhx29 |
G |
A |
13: 113,069,749 (GRCm39) |
D211N |
probably benign |
Het |
| Dlg2 |
A |
G |
7: 91,646,532 (GRCm39) |
|
probably null |
Het |
| Dse |
C |
A |
10: 34,028,678 (GRCm39) |
R804L |
probably benign |
Het |
| Fgb |
T |
C |
3: 82,956,984 (GRCm39) |
|
probably null |
Het |
| Gm11011 |
A |
T |
2: 169,429,392 (GRCm39) |
I31K |
unknown |
Het |
| Hira |
A |
G |
16: 18,735,349 (GRCm39) |
T272A |
probably damaging |
Het |
| Mettl23 |
A |
G |
11: 116,734,437 (GRCm39) |
|
probably benign |
Het |
| Mtmr2 |
T |
C |
9: 13,704,463 (GRCm39) |
Y197H |
probably benign |
Het |
| Myo9a |
T |
G |
9: 59,778,284 (GRCm39) |
S1347A |
probably benign |
Het |
| Myrfl |
A |
G |
10: 116,658,661 (GRCm39) |
V432A |
probably damaging |
Het |
| Npdc1 |
G |
A |
2: 25,298,957 (GRCm39) |
D284N |
probably damaging |
Het |
| Obscn |
G |
T |
11: 58,925,531 (GRCm39) |
H6347Q |
possibly damaging |
Het |
| Or52r1b |
A |
T |
7: 102,691,547 (GRCm39) |
Y282F |
probably damaging |
Het |
| Or8b53 |
T |
A |
9: 38,667,000 (GRCm39) |
N5K |
probably damaging |
Het |
| Peg10 |
A |
G |
6: 4,755,913 (GRCm39) |
|
probably benign |
Het |
| Pfkfb3 |
A |
G |
2: 11,506,483 (GRCm39) |
V10A |
probably benign |
Het |
| Phf12 |
A |
G |
11: 77,915,871 (GRCm39) |
D175G |
probably damaging |
Het |
| Plekhg6 |
T |
G |
6: 125,352,755 (GRCm39) |
I131L |
possibly damaging |
Het |
| Ptbp3 |
A |
G |
4: 59,485,626 (GRCm39) |
V95A |
probably damaging |
Het |
| Rbbp8 |
A |
G |
18: 11,855,664 (GRCm39) |
T604A |
probably benign |
Het |
| Rbbp8nl |
G |
A |
2: 179,921,586 (GRCm39) |
P266L |
possibly damaging |
Het |
| Ryr1 |
T |
C |
7: 28,715,148 (GRCm39) |
S4659G |
unknown |
Het |
| Serpinb9d |
A |
G |
13: 33,380,423 (GRCm39) |
|
probably null |
Het |
| Slc22a28 |
A |
C |
19: 8,048,462 (GRCm39) |
I395S |
possibly damaging |
Het |
| Slco6c1 |
T |
A |
1: 97,055,656 (GRCm39) |
I82L |
probably benign |
Het |
| Sptan1 |
C |
T |
2: 29,876,504 (GRCm39) |
R295* |
probably null |
Het |
| Tdrd9 |
C |
T |
12: 111,964,336 (GRCm39) |
|
probably null |
Het |
| Ube2v2 |
A |
G |
16: 15,374,343 (GRCm39) |
L77P |
possibly damaging |
Het |
| Ugt3a1 |
T |
C |
15: 9,361,769 (GRCm39) |
S182P |
probably damaging |
Het |
| Vwa5b1 |
T |
C |
4: 138,336,201 (GRCm39) |
E131G |
probably damaging |
Het |
| Wdr18 |
C |
T |
10: 79,800,872 (GRCm39) |
A145V |
probably benign |
Het |
| Xpnpep1 |
A |
G |
19: 52,993,253 (GRCm39) |
I358T |
probably damaging |
Het |
| Zfp946 |
T |
A |
17: 22,673,676 (GRCm39) |
C143* |
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 |
|
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 |
|
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'- GGTTTACTTGGCAGCCTTCC -3'
(R):5'- CACATACAGTACACAGGGTTTTAGG -3'
Sequencing Primer
(F):5'- AGCCTTCCCTGGAGTCTTGAG -3'
(R):5'- GTTAGACTATCAGCTGAGACAGTCC -3'
|
| Posted On |
2016-10-24 |
Incidental Mutation