Incidental Mutation 'R8447:Lcmt1'
ID 654547
Institutional Source Beutler Lab
Gene Symbol Lcmt1
Ensembl Gene ENSMUSG00000030763
Gene Name leucine carboxyl methyltransferase 1
Synonyms Lcmt, LCMT-1
MMRRC Submission 067902-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R8447 (G1)
Quality Score 225.009
Status Not validated
Chromosome 7
Chromosomal Location 122977026-123029581 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 123020825 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Glutamine at position 250 (L250Q)
Ref Sequence ENSEMBL: ENSMUSP00000033025 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000033025] [ENSMUST00000206574]
AlphaFold A0A0U1RNF2
Predicted Effect probably damaging
Transcript: ENSMUST00000033025
AA Change: L250Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000033025
Gene: ENSMUSG00000030763
AA Change: L250Q

DomainStartEndE-ValueType
low complexity region 3 16 N/A INTRINSIC
Pfam:LCM 23 215 3.6e-41 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000206574
AA Change: L250Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.7%
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: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb4 A C 5: 8,957,278 (GRCm39) T136P probably damaging Het
Abcc3 A T 11: 94,254,886 (GRCm39) L639Q possibly damaging Het
Adam10 T A 9: 70,655,400 (GRCm39) N289K probably damaging Het
Akap12 A G 10: 4,306,289 (GRCm39) E1138G probably benign Het
Akr1e1 C A 13: 4,648,793 (GRCm39) L167F probably damaging Het
Cars1 T C 7: 143,123,766 (GRCm39) K506E possibly damaging Het
Castor1 T C 11: 4,170,165 (GRCm39) V81A probably damaging Het
Cfap46 C A 7: 139,260,902 (GRCm39) R65S possibly damaging Het
Cfap57 C T 4: 118,472,128 (GRCm39) V84I probably benign Het
Clec16a C A 16: 10,559,487 (GRCm39) T920K probably benign Het
Coro2b C T 9: 62,333,842 (GRCm39) E351K probably damaging Het
Diablo T C 5: 123,655,829 (GRCm39) E163G probably damaging Het
Dnah6 A G 6: 73,115,757 (GRCm39) L1547P probably damaging Het
Dynll2 G T 11: 87,874,719 (GRCm39) D37E probably benign Het
Eml4 A T 17: 83,755,656 (GRCm39) Q408L probably damaging Het
F2rl3 T C 8: 73,489,963 (GRCm39) *397R probably null Het
Fance T A 17: 28,545,155 (GRCm39) L127Q unknown Het
Fat4 T C 3: 39,033,824 (GRCm39) V2492A possibly damaging Het
Ggta1 C T 2: 35,292,573 (GRCm39) D245N probably damaging Het
Gli1 T C 10: 127,166,106 (GRCm39) N1049S probably benign Het
Grin2c A G 11: 115,148,215 (GRCm39) V354A probably benign Het
Kank4 T A 4: 98,666,729 (GRCm39) I573F probably damaging Het
Kdm3a A G 6: 71,588,881 (GRCm39) V376A probably benign Het
Kndc1 T C 7: 139,481,121 (GRCm39) V69A probably damaging Het
Ldhb A T 6: 142,444,356 (GRCm39) V99D probably damaging Het
Lepr T C 4: 101,671,688 (GRCm39) V904A probably benign Het
Lipe G T 7: 25,080,017 (GRCm39) N710K probably damaging Het
Med1 C A 11: 98,060,240 (GRCm39) D230Y probably damaging Het
Mpv17l T A 16: 13,758,864 (GRCm39) I96K probably benign Het
Obox1 A T 7: 15,289,541 (GRCm39) Q110L probably damaging Het
Or11h6 T C 14: 50,880,008 (GRCm39) V84A probably benign Het
Or4f4b T A 2: 111,314,101 (GRCm39) Y137N probably damaging Het
Or4k37 T A 2: 111,159,307 (GRCm39) I181N possibly damaging Het
Or5t16 T A 2: 86,818,885 (GRCm39) I212F probably benign Het
Or6c76 T G 10: 129,612,371 (GRCm39) M211R possibly damaging Het
Or9s14 C A 1: 92,535,494 (GRCm39) probably benign Het
Pah T C 10: 87,417,827 (GRCm39) probably null Het
Pate1 A T 9: 35,597,631 (GRCm39) N40K probably benign Het
Pclo C A 5: 14,731,423 (GRCm39) D182E Het
Prl7a2 A T 13: 27,849,941 (GRCm39) S44T possibly damaging Het
Pwp2 T A 10: 78,007,873 (GRCm39) D894V probably benign Het
Ripor2 T A 13: 24,907,771 (GRCm39) L1014Q probably damaging Het
Rpe G A 1: 66,740,188 (GRCm39) probably null Het
Sh2d3c A G 2: 32,642,671 (GRCm39) T706A probably damaging Het
Slc34a1 T C 13: 24,006,309 (GRCm39) F445S possibly damaging Het
Spata20 C A 11: 94,373,080 (GRCm39) L515F probably damaging Het
Tcf20 G A 15: 82,737,437 (GRCm39) S1338F possibly damaging Het
Tm9sf2 C A 14: 122,377,180 (GRCm39) P236Q probably damaging Het
Tmem135 T C 7: 88,803,240 (GRCm39) Y311C probably damaging Het
Tmem245 T C 4: 56,906,261 (GRCm39) Q548R probably benign Het
Tmem94 G T 11: 115,688,023 (GRCm39) C1190F possibly damaging Het
Tmem94 G A 11: 115,688,696 (GRCm39) R1301H probably benign Het
Zp3 G A 5: 136,013,244 (GRCm39) G192E 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
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
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'- TTTGTAGGGTGCACCAGCTC -3'
(R):5'- GTGTTTTCATATCAAGGAGACAGGG -3'

Sequencing Primer
(F):5'- GTGCACCAGCTCAGCTTTGTG -3'
(R):5'- GAGAACTTGAGGCGTCCTAC -3'
Posted On 2020-10-20