Incidental Mutation 'R6155:Lce1j'
ID 489504
Institutional Source Beutler Lab
Gene Symbol Lce1j
Ensembl Gene ENSMUSG00000068887
Gene Name late cornified envelope 1J
Synonyms Sprrl8
MMRRC Submission 044302-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.077) question?
Stock # R6155 (G1)
Quality Score 225.009
Status Not validated
Chromosome 3
Chromosomal Location 92788840-92790514 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to G at 92789072 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Glutamine to Proline at position 133 (Q133P)
Ref Sequence ENSEMBL: ENSMUSP00000140507 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000107304] [ENSMUST00000186525]
AlphaFold D3YUU5
Predicted Effect unknown
Transcript: ENSMUST00000107304
AA Change: Q133P
SMART Domains Protein: ENSMUSP00000102925
Gene: ENSMUSG00000068887
AA Change: Q133P

Pfam:LCE 21 63 5e-12 PFAM
Pfam:LCE 60 125 1.1e-9 PFAM
Predicted Effect unknown
Transcript: ENSMUST00000186525
AA Change: Q133P
SMART Domains Protein: ENSMUSP00000140507
Gene: ENSMUSG00000068887
AA Change: Q133P

Pfam:LCE 21 63 4.2e-10 PFAM
Pfam:LCE 60 126 8.5e-10 PFAM
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 97.9%
  • 20x: 94.1%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 68 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcg3 T C 5: 104,963,644 (GRCm38) Y319C probably benign Het
Actn4 A C 7: 28,896,141 (GRCm38) I763S probably damaging Het
Actr8 G A 14: 29,978,589 (GRCm38) probably null Het
Adrb1 T C 19: 56,722,904 (GRCm38) L178P probably damaging Het
Afap1 A G 5: 35,935,609 (GRCm38) Y19C unknown Het
Ankrd36 A G 11: 5,687,442 (GRCm38) E1337G probably benign Het
Arl4a A C 12: 40,036,520 (GRCm38) V76G probably damaging Het
B230118H07Rik A T 2: 101,576,010 (GRCm38) probably null Het
Bmp1 A T 14: 70,508,007 (GRCm38) I246K probably damaging Het
Camk4 A T 18: 32,939,447 (GRCm38) T18S unknown Het
Cep152 T C 2: 125,581,700 (GRCm38) H927R probably benign Het
Clca3a2 A G 3: 144,819,357 (GRCm38) I38T probably damaging Het
Clec2g A C 6: 128,980,273 (GRCm38) T54P probably damaging Het
Cox20 A G 1: 178,321,797 (GRCm38) E31G possibly damaging Het
Crispld1 T A 1: 17,753,017 (GRCm38) H407Q probably benign Het
Csmd1 T C 8: 15,903,231 (GRCm38) I3417V probably benign Het
Dhtkd1 A C 2: 5,910,359 (GRCm38) H700Q probably null Het
Dnah10 G A 5: 124,770,599 (GRCm38) V1516M probably damaging Het
Dnah10 A G 5: 124,785,175 (GRCm38) T2165A probably damaging Het
Dock2 C G 11: 34,294,123 (GRCm38) M1072I probably benign Het
F11 T A 8: 45,252,082 (GRCm38) T141S probably damaging Het
Gabra6 T A 11: 42,316,523 (GRCm38) I245F probably damaging Het
Gm13101 T A 4: 143,965,142 (GRCm38) H337L probably benign Het
Gm8909 G A 17: 36,167,507 (GRCm38) A211V possibly damaging Het
Herc1 T A 9: 66,433,423 (GRCm38) C1685S possibly damaging Het
Il20 G T 1: 130,910,740 (GRCm38) D73E probably damaging Het
Ireb2 C A 9: 54,886,527 (GRCm38) P247Q probably damaging Het
Kcng3 T C 17: 83,588,378 (GRCm38) I220V probably benign Het
Lgals9 C T 11: 78,963,505 (GRCm38) A287T probably benign Het
Lrrc52 A G 1: 167,466,727 (GRCm38) probably benign Het
Map3k5 A T 10: 20,118,441 (GRCm38) H1027L probably benign Het
Morc3 A G 16: 93,862,425 (GRCm38) D407G possibly damaging Het
Myom1 T C 17: 71,108,695 (GRCm38) probably null Het
Ncapg2 T C 12: 116,438,011 (GRCm38) F673S possibly damaging Het
Ncoa6 T C 2: 155,407,448 (GRCm38) D1312G probably damaging Het
Nkx1-1 A T 5: 33,431,051 (GRCm38) F298I probably damaging Het
Npas2 G A 1: 39,287,476 (GRCm38) R14Q probably damaging Het
Npas4 C T 19: 4,986,870 (GRCm38) C422Y probably damaging Het
Olfr1230 A G 2: 89,296,421 (GRCm38) L283S probably damaging Het
Olfr1381 T A 11: 49,552,584 (GRCm38) I279N possibly damaging Het
Olfr481 T C 7: 108,081,286 (GRCm38) V164A probably benign Het
Olfr749 T C 14: 50,736,619 (GRCm38) D181G probably benign Het
Pcdhga4 T C 18: 37,686,493 (GRCm38) I365T probably damaging Het
Pear1 T A 3: 87,759,568 (GRCm38) T37S probably damaging Het
Pkn2 A T 3: 142,853,693 (GRCm38) F24I probably benign Het
Plcb3 G A 19: 6,966,165 (GRCm38) A122V probably damaging Het
Pnliprp1 T C 19: 58,730,133 (GRCm38) probably null Het
Psmb3 T A 11: 97,712,452 (GRCm38) F164I probably damaging Het
Ptch2 T A 4: 117,096,908 (GRCm38) F45Y probably damaging Het
Ptpn23 C A 9: 110,387,781 (GRCm38) probably benign Het
Pusl1 A G 4: 155,890,548 (GRCm38) S199P probably damaging Het
Rasgrp2 C A 19: 6,402,501 (GRCm38) L35I probably damaging Het
Rictor T C 15: 6,793,977 (GRCm38) L1545P probably benign Het
Rtn4r A T 16: 18,151,394 (GRCm38) M229L probably benign Het
Ruvbl1 A T 6: 88,479,125 (GRCm38) probably null Het
Slc35b3 A T 13: 38,944,596 (GRCm38) S30T probably damaging Het
Sorcs3 T C 19: 48,398,697 (GRCm38) V207A possibly damaging Het
Sox13 A G 1: 133,393,267 (GRCm38) S2P probably damaging Het
Sptbn1 A C 11: 30,137,403 (GRCm38) L999R probably damaging Het
Taf4 A G 2: 179,913,524 (GRCm38) V1015A probably damaging Het
Top3b T C 16: 16,891,509 (GRCm38) L687P probably damaging Het
Tpp2 T A 1: 43,956,489 (GRCm38) V268E probably damaging Het
Ttc6 T C 12: 57,737,616 (GRCm38) Y1824H possibly damaging Het
Txk A G 5: 72,700,726 (GRCm38) Y360H probably damaging Het
Vmn2r57 T C 7: 41,428,690 (GRCm38) I115V probably benign Het
Vmn2r98 T C 17: 19,065,881 (GRCm38) S214P possibly damaging Het
Zbtb48 T C 4: 152,022,038 (GRCm38) probably null Het
Zzz3 A G 3: 152,427,682 (GRCm38) I126V possibly damaging Het
Other mutations in Lce1j
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00492:Lce1j APN 3 92,789,406 (GRCm38) missense unknown
R0386:Lce1j UTSW 3 92,789,388 (GRCm38) missense unknown
R6047:Lce1j UTSW 3 92,789,196 (GRCm38) missense unknown
R6468:Lce1j UTSW 3 92,789,422 (GRCm38) nonsense probably null
R6844:Lce1j UTSW 3 92,789,349 (GRCm38) missense unknown
R7156:Lce1j UTSW 3 92,789,184 (GRCm38) missense unknown
R7953:Lce1j UTSW 3 92,789,083 (GRCm38) nonsense probably null
Predicted Primers PCR Primer

Sequencing Primer
Posted On 2017-10-10