Incidental Mutation 'IGL01536:Lcmt1'
ID |
89970 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
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 # |
IGL01536
|
Quality Score |
|
Status
|
|
Chromosome |
7 |
Chromosomal Location |
122977026-123029581 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 123021966 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Proline
at position 275
(S275P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000033025
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000033025]
[ENSMUST00000206574]
|
AlphaFold |
A0A0U1RNF2 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000033025
AA Change: S275P
PolyPhen 2
Score 0.460 (Sensitivity: 0.89; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000033025 Gene: ENSMUSG00000030763 AA Change: S275P
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: ENSMUST00000205880
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000206488
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000206574
AA Change: S275P
PolyPhen 2
Score 0.333 (Sensitivity: 0.90; Specificity: 0.89)
|
Coding Region Coverage |
|
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 |
Atp5f1a |
T |
C |
18: 77,868,012 (GRCm39) |
|
probably benign |
Het |
Ccnc |
A |
G |
4: 21,732,505 (GRCm39) |
I81V |
probably benign |
Het |
Cep112 |
A |
G |
11: 108,422,237 (GRCm39) |
D560G |
probably null |
Het |
Dis3 |
A |
G |
14: 99,316,859 (GRCm39) |
Y826H |
probably damaging |
Het |
Dtx2 |
A |
G |
5: 136,038,940 (GRCm39) |
|
probably benign |
Het |
Enpp4 |
T |
C |
17: 44,410,494 (GRCm39) |
K361E |
possibly damaging |
Het |
Erap1 |
A |
T |
13: 74,810,542 (GRCm39) |
K294* |
probably null |
Het |
Erbb4 |
T |
A |
1: 68,329,441 (GRCm39) |
Y636F |
probably benign |
Het |
Fads1 |
C |
A |
19: 10,171,394 (GRCm39) |
Q342K |
probably benign |
Het |
Fntb |
A |
T |
12: 76,966,904 (GRCm39) |
T447S |
probably benign |
Het |
Hdac4 |
A |
G |
1: 91,857,868 (GRCm39) |
|
probably benign |
Het |
Kcnh2 |
A |
G |
5: 24,531,522 (GRCm39) |
I463T |
probably damaging |
Het |
Kif13a |
G |
T |
13: 46,905,765 (GRCm39) |
T726K |
probably damaging |
Het |
Lmnb1 |
T |
C |
18: 56,873,868 (GRCm39) |
S425P |
probably benign |
Het |
Lrp1b |
T |
C |
2: 41,000,895 (GRCm39) |
I2224V |
probably benign |
Het |
Lrrc45 |
A |
T |
11: 120,606,410 (GRCm39) |
T173S |
probably benign |
Het |
Muc4 |
T |
C |
16: 32,584,340 (GRCm39) |
Y2590H |
possibly damaging |
Het |
Myo18a |
C |
T |
11: 77,711,677 (GRCm39) |
P676L |
probably damaging |
Het |
Or5m10 |
T |
C |
2: 85,717,944 (GRCm39) |
S267P |
probably damaging |
Het |
Pcdhb15 |
T |
C |
18: 37,608,046 (GRCm39) |
M426T |
probably benign |
Het |
Pik3cd |
A |
G |
4: 149,737,123 (GRCm39) |
V891A |
probably damaging |
Het |
Polr1b |
A |
G |
2: 128,967,475 (GRCm39) |
N956S |
probably benign |
Het |
Ppil3 |
T |
C |
1: 58,483,750 (GRCm39) |
M1V |
probably null |
Het |
Rad1 |
T |
A |
15: 10,493,286 (GRCm39) |
S238T |
possibly damaging |
Het |
Shc3 |
A |
C |
13: 51,670,595 (GRCm39) |
S51A |
probably damaging |
Het |
Slc9c1 |
T |
C |
16: 45,409,992 (GRCm39) |
|
probably null |
Het |
Smg5 |
A |
G |
3: 88,256,552 (GRCm39) |
K273E |
possibly damaging |
Het |
Sntg1 |
C |
T |
1: 8,653,424 (GRCm39) |
|
probably null |
Het |
Sstr4 |
T |
C |
2: 148,237,800 (GRCm39) |
L137P |
probably damaging |
Het |
Taar8b |
C |
T |
10: 23,967,493 (GRCm39) |
V234I |
probably benign |
Het |
Tbc1d9 |
A |
G |
8: 83,987,621 (GRCm39) |
Y860C |
probably damaging |
Het |
Tll1 |
A |
T |
8: 64,527,323 (GRCm39) |
S399R |
probably damaging |
Het |
Tns1 |
T |
C |
1: 73,958,807 (GRCm39) |
|
probably benign |
Het |
Trim10 |
T |
A |
17: 37,188,180 (GRCm39) |
|
probably null |
Het |
Ttn |
C |
T |
2: 76,562,695 (GRCm39) |
|
probably null |
Het |
Usp43 |
T |
C |
11: 67,746,764 (GRCm39) |
D981G |
probably benign |
Het |
Vmn2r108 |
A |
T |
17: 20,683,543 (GRCm39) |
C554S |
probably damaging |
Het |
Vmn2r112 |
T |
A |
17: 22,824,136 (GRCm39) |
Y464N |
probably damaging |
Het |
Vmn2r31 |
T |
C |
7: 7,387,847 (GRCm39) |
K575E |
probably damaging |
Het |
Vmn2r50 |
C |
T |
7: 9,771,610 (GRCm39) |
C697Y |
probably damaging |
Het |
Zcchc8 |
A |
C |
5: 123,858,782 (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 |
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 |
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 |
|
|
Posted On |
2013-12-03 |