Incidental Mutation 'R6331:Lcmt1'
ID 510918
Institutional Source Beutler Lab
Gene Symbol Lcmt1
Ensembl Gene ENSMUSG00000030763
Gene Name leucine carboxyl methyltransferase 1
Synonyms Lcmt, LCMT-1
MMRRC Submission 044485-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R6331 (G1)
Quality Score 225.009
Status Validated
Chromosome 7
Chromosomal Location 122977026-123029581 bp(+) (GRCm39)
Type of Mutation intron
DNA Base Change (assembly) T to C at 122977405 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000146184 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000033025] [ENSMUST00000206574] [ENSMUST00000206721]
AlphaFold A0A0U1RNF2
Predicted Effect unknown
Transcript: ENSMUST00000033025
AA Change: S12P
SMART Domains Protein: ENSMUSP00000033025
Gene: ENSMUSG00000030763
AA Change: S12P

DomainStartEndE-ValueType
low complexity region 3 16 N/A INTRINSIC
Pfam:LCM 23 215 3.6e-41 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000157824
Predicted Effect unknown
Transcript: ENSMUST00000206574
AA Change: S12P
Predicted Effect probably benign
Transcript: ENSMUST00000206721
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.3%
  • 20x: 97.8%
Validation Efficiency 100% (66/66)
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: 66 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A2ml1 T C 6: 128,529,199 (GRCm39) D981G probably damaging Het
Abcc1 C A 16: 14,282,920 (GRCm39) A1132D probably damaging Het
Adamts12 A G 15: 11,241,519 (GRCm39) T364A probably damaging Het
Ahnak A T 19: 8,983,989 (GRCm39) M1758L probably benign Het
Ak9 T C 10: 41,258,825 (GRCm39) V774A probably damaging Het
Ash1l A G 3: 88,915,172 (GRCm39) E1934G probably benign Het
Atp2b2 C T 6: 113,774,092 (GRCm39) A341T probably benign Het
Bach2 G T 4: 32,238,816 (GRCm39) probably benign Het
Bltp3a T C 17: 28,112,175 (GRCm39) I1150T probably benign Het
Brd10 C T 19: 29,695,147 (GRCm39) V1449I probably benign Het
Ccdc102a T C 8: 95,638,144 (GRCm39) T241A probably benign Het
Chd5 G T 4: 152,466,865 (GRCm39) R1627S probably benign Het
Clint1 T C 11: 45,785,908 (GRCm39) S322P probably benign Het
Dapk1 T A 13: 60,877,256 (GRCm39) C498* probably null Het
Diaph3 T G 14: 87,103,976 (GRCm39) S803R probably damaging Het
Dmp1 T C 5: 104,354,991 (GRCm39) L10P probably damaging Het
Gcc2 T C 10: 58,107,287 (GRCm39) V741A probably benign Het
Gldn A G 9: 54,194,162 (GRCm39) M119V probably benign Het
Gucy1b1 A G 3: 81,941,718 (GRCm39) S574P possibly damaging Het
Hapln4 T A 8: 70,537,073 (GRCm39) probably benign Het
Hars1 A G 18: 36,904,385 (GRCm39) V209A probably benign Het
Htt T A 5: 35,053,231 (GRCm39) F2521L possibly damaging Het
Kif14 A G 1: 136,443,724 (GRCm39) D1299G probably null Het
Krt25 T A 11: 99,208,253 (GRCm39) E325V probably damaging Het
Lrp1b A T 2: 40,693,221 (GRCm39) N3266K probably damaging Het
Mctp1 T A 13: 77,168,982 (GRCm39) probably null Het
Mtarc2 A G 1: 184,551,525 (GRCm39) S304P probably damaging Het
Myo5b G A 18: 74,750,064 (GRCm39) A176T probably damaging Het
Myom3 A G 4: 135,503,688 (GRCm39) N379S possibly damaging Het
Nbea A T 3: 55,908,037 (GRCm39) D1358E possibly damaging Het
Nod1 T C 6: 54,901,968 (GRCm39) E939G probably damaging Het
Obox1 A G 7: 15,289,294 (GRCm39) R70G probably benign Het
Or13c25 A G 4: 52,911,399 (GRCm39) Y132H probably damaging Het
Or13p3 A G 4: 118,567,144 (GRCm39) E180G probably benign Het
Or4a2 C T 2: 89,248,695 (GRCm39) G21S probably benign Het
Or5m12 T C 2: 85,734,560 (GRCm39) I279M probably benign Het
Otof T C 5: 30,529,279 (GRCm39) D1745G possibly damaging Het
Pklr A G 3: 89,044,662 (GRCm39) I47V probably damaging Het
Pms2 T A 5: 143,851,451 (GRCm39) S123T possibly damaging Het
Pnpla2 T C 7: 141,039,198 (GRCm39) S337P probably damaging Het
Ptgfrn A C 3: 100,952,936 (GRCm39) V766G possibly damaging Het
Ptpn11 T A 5: 121,282,716 (GRCm39) H419L probably damaging Het
Rims3 T A 4: 120,740,350 (GRCm39) V99E probably damaging Het
Rmc1 G A 18: 12,313,571 (GRCm39) R228H probably damaging Het
Samd9l A G 6: 3,376,361 (GRCm39) V300A probably damaging Het
Sdad1 T C 5: 92,451,789 (GRCm39) D144G probably damaging Het
Siglecg T C 7: 43,058,178 (GRCm39) Y22H possibly damaging Het
Slc39a1 A G 3: 90,159,588 (GRCm39) K305R possibly damaging Het
Slc5a4a A G 10: 76,014,034 (GRCm39) R414G probably damaging Het
Smg1 T C 7: 117,753,500 (GRCm39) probably benign Het
Tbc1d9b C T 11: 50,022,324 (GRCm39) A20V possibly damaging Het
Tgfb3 G T 12: 86,110,638 (GRCm39) D237E probably benign Het
Tle6 A G 10: 81,431,073 (GRCm39) S234P probably benign Het
Tnrc6b A G 15: 80,763,815 (GRCm39) N439S probably benign Het
Trim33 T C 3: 103,248,925 (GRCm39) S783P probably benign Het
Ttn A T 2: 76,632,698 (GRCm39) Y12373N probably damaging Het
Tube1 G A 10: 39,010,097 (GRCm39) V7I probably benign Het
Tufm T C 7: 126,088,410 (GRCm39) V265A probably benign Het
Usp32 T C 11: 84,877,402 (GRCm39) H1550R possibly damaging Het
Usp33 A T 3: 152,081,887 (GRCm39) M546L probably damaging Het
Uspl1 C A 5: 149,151,097 (GRCm39) Q752K probably benign Het
Vmn1r20 A G 6: 57,408,655 (GRCm39) probably null Het
Vmn1r201 T C 13: 22,659,521 (GRCm39) F245S probably damaging Het
Vmn2r3 A G 3: 64,186,182 (GRCm39) S168P probably damaging Het
Wdr24 T G 17: 26,044,650 (GRCm39) D168E possibly damaging Het
Zfp646 C T 7: 127,482,853 (GRCm39) P1677S probably damaging Het
Other mutations in Lcmt1
AlleleSourceChrCoordTypePredicted EffectPPH 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
R5573:Lcmt1 UTSW 7 123,000,686 (GRCm39) missense probably benign 0.03
R5931:Lcmt1 UTSW 7 123,020,839 (GRCm39) missense 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'- TCCGACAAACGTCATGTCC -3'
(R):5'- TTCCCAGTGTCCTAGCGTATG -3'

Sequencing Primer
(F):5'- ACAAACGTCATGTCCCGGGAG -3'
(R):5'- CCTAGCGTATGCCTTGGTCAG -3'
Posted On 2018-04-02