Incidental Mutation 'R6047:Lce1j'
ID 483336
Institutional Source Beutler Lab
Gene Symbol Lce1j
Ensembl Gene ENSMUSG00000068887
Gene Name late cornified envelope 1J
Synonyms Sprrl8
MMRRC Submission 044215-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.070) question?
Stock # R6047 (G1)
Quality Score 200.009
Status Validated
Chromosome 3
Chromosomal Location 92696151-92697821 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to C at 92696503 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Glycine at position 92 (R92G)
Ref Sequence ENSEMBL: ENSMUSP00000140507 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000107304] [ENSMUST00000186525]
AlphaFold D3YUU5
Predicted Effect unknown
Transcript: ENSMUST00000107304
AA Change: R92G
SMART Domains Protein: ENSMUSP00000102925
Gene: ENSMUSG00000068887
AA Change: R92G

DomainStartEndE-ValueType
Pfam:LCE 21 63 5e-12 PFAM
Pfam:LCE 60 125 1.1e-9 PFAM
Predicted Effect unknown
Transcript: ENSMUST00000186525
AA Change: R92G
SMART Domains Protein: ENSMUSP00000140507
Gene: ENSMUSG00000068887
AA Change: R92G

DomainStartEndE-ValueType
Pfam:LCE 21 63 4.2e-10 PFAM
Pfam:LCE 60 126 8.5e-10 PFAM
Meta Mutation Damage Score 0.0869 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 97.9%
  • 20x: 93.6%
Validation Efficiency 100% (36/36)
Allele List at MGI
Other mutations in this stock
Total: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb1b T C 5: 8,856,066 (GRCm39) I58T probably damaging Het
Adgrb2 G T 4: 129,912,498 (GRCm39) G1208C probably damaging Het
Antxrl T C 14: 33,775,433 (GRCm39) probably benign Het
Appl2 C T 10: 83,448,765 (GRCm39) probably null Het
Bloc1s2 T C 19: 44,130,629 (GRCm39) I112V possibly damaging Het
Cblb G T 16: 51,932,611 (GRCm39) probably null Het
Cdk9 T C 2: 32,598,285 (GRCm39) probably null Het
Dok7 G A 5: 35,236,651 (GRCm39) G206D probably damaging Het
Ftsj3 C T 11: 106,143,144 (GRCm39) R390H probably damaging Het
Gpr179 G T 11: 97,229,242 (GRCm39) P971Q probably damaging Het
Hic1 A T 11: 75,057,675 (GRCm39) S405T possibly damaging Het
Ifngr1 T C 10: 19,482,061 (GRCm39) L217P probably damaging Het
Insrr A G 3: 87,711,483 (GRCm39) K468E probably damaging Het
Lrp12 T C 15: 39,735,463 (GRCm39) E823G probably damaging Het
Lrp1b A G 2: 40,527,787 (GRCm39) I98T probably benign Het
Mbd3l2 A T 9: 18,356,212 (GRCm39) H179L possibly damaging Het
Med24 A T 11: 98,598,591 (GRCm39) C691* probably null Het
Mical1 T C 10: 41,357,703 (GRCm39) probably null Het
Msantd2 A T 9: 37,434,738 (GRCm39) Y326F probably damaging Het
Nfyc T A 4: 120,636,314 (GRCm39) probably null Het
Nrg3 T A 14: 38,119,309 (GRCm39) probably null Het
Nt5c3 G A 6: 56,859,964 (GRCm39) S291L probably damaging Het
Pak4 A G 7: 28,262,461 (GRCm39) Y384H probably benign Het
Pdia5 T C 16: 35,217,848 (GRCm39) K512E probably damaging Het
Pfpl T C 19: 12,406,597 (GRCm39) F283L probably damaging Het
Pick1 A G 15: 79,139,895 (GRCm39) probably benign Het
Pkd1 T C 17: 24,814,059 (GRCm39) V4143A probably damaging Het
Ptprc C T 1: 138,028,779 (GRCm39) probably null Het
Scn10a A G 9: 119,451,897 (GRCm39) F1342S probably benign Het
Slc17a7 A T 7: 44,822,830 (GRCm39) I436F probably benign Het
Slc34a1 G T 13: 55,559,884 (GRCm39) A403S probably damaging Het
Stmn3 A T 2: 180,950,952 (GRCm39) Y35N possibly damaging Het
Tldc2 A G 2: 156,938,382 (GRCm39) E207G probably damaging Het
Unc79 A G 12: 103,027,717 (GRCm39) N436S probably damaging Het
Uty G T Y: 1,158,288 (GRCm39) P538Q probably damaging Het
Zzef1 A G 11: 72,756,921 (GRCm39) D1142G probably damaging Het
Other mutations in Lce1j
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00492:Lce1j APN 3 92,696,713 (GRCm39) missense unknown
R0386:Lce1j UTSW 3 92,696,695 (GRCm39) missense unknown
R6155:Lce1j UTSW 3 92,696,379 (GRCm39) missense unknown
R6468:Lce1j UTSW 3 92,696,729 (GRCm39) nonsense probably null
R6844:Lce1j UTSW 3 92,696,656 (GRCm39) missense unknown
R7156:Lce1j UTSW 3 92,696,491 (GRCm39) missense unknown
R7953:Lce1j UTSW 3 92,696,390 (GRCm39) nonsense probably null
Predicted Primers PCR Primer
(F):5'- CTGAAGTCTTCCTCACCCAG -3'
(R):5'- GCCAAGTGTCCTCCAAAATGC -3'

Sequencing Primer
(F):5'- GAAGTCTTCCTCACCCAGGTCAG -3'
(R):5'- AGTGTCCCCCAAAATGTCCTC -3'
Posted On 2017-07-14