Incidental Mutation 'IGL00492:Lce1j'
ID332216
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Lce1j
Ensembl Gene ENSMUSG00000068887
Gene Namelate cornified envelope 1J
SynonymsSprrl8
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.089) question?
Stock #IGL00492
Quality Score
Status
Chromosome3
Chromosomal Location92788840-92790514 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 92789406 bp
ZygosityHeterozygous
Amino Acid Change Threonine to Alanine at position 22 (T22A)
Ref Sequence ENSEMBL: ENSMUSP00000140507 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000107304] [ENSMUST00000186525]
Predicted Effect unknown
Transcript: ENSMUST00000107304
AA Change: T22A
SMART Domains Protein: ENSMUSP00000102925
Gene: ENSMUSG00000068887
AA Change: T22A

DomainStartEndE-ValueType
Pfam:LCE 21 63 5e-12 PFAM
Pfam:LCE 60 125 1.1e-9 PFAM
Predicted Effect unknown
Transcript: ENSMUST00000186525
AA Change: T22A
SMART Domains Protein: ENSMUSP00000140507
Gene: ENSMUSG00000068887
AA Change: T22A

DomainStartEndE-ValueType
Pfam:LCE 21 63 4.2e-10 PFAM
Pfam:LCE 60 126 8.5e-10 PFAM
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 30 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arhgap29 G T 3: 122,003,312 E108* probably null Het
Braf A T 6: 39,660,999 probably null Het
Calr3 G A 8: 72,431,396 Q112* probably null Het
Dis3 A G 14: 99,082,674 I649T probably damaging Het
Dopey2 T C 16: 93,780,782 V65A probably benign Het
Dpp4 A G 2: 62,379,302 Y126H probably damaging Het
Dtwd2 A T 18: 49,723,709 Y170* probably null Het
Efcab7 A G 4: 99,831,463 T61A probably benign Het
Fbxl3 G T 14: 103,095,294 L83M probably damaging Het
Fbxo17 A C 7: 28,735,341 S184R probably damaging Het
Fcf1 T C 12: 84,982,332 probably null Het
Gm428 C T 4: 73,687,333 T327I probably damaging Het
Hcrtr2 T C 9: 76,246,441 Y223C probably damaging Het
Kcnn1 A G 8: 70,848,062 F432S probably benign Het
Kmt2a C T 9: 44,807,934 probably benign Het
Lrfn5 T A 12: 61,844,126 S734T probably benign Het
Lyst T A 13: 13,678,175 S2253R possibly damaging Het
Myrfl G A 10: 116,796,106 L645F possibly damaging Het
Nudt9 A G 5: 104,061,762 probably benign Het
Ostn T A 16: 27,321,382 M15K possibly damaging Het
Psg20 T C 7: 18,674,611 T395A possibly damaging Het
Rpf1 G A 3: 146,512,247 H171Y probably benign Het
Shprh A G 10: 11,188,158 E1325G probably damaging Het
Slc22a8 G T 19: 8,594,135 V77L probably benign Het
Tbck A C 3: 132,722,740 K285N probably benign Het
Vmn1r86 C T 7: 13,102,541 C86Y possibly damaging Het
Zdhhc20 A G 14: 57,873,924 I73T probably damaging Het
Zfp512b T C 2: 181,587,069 D701G probably damaging Het
Zfp735 T A 11: 73,711,366 Y379N possibly damaging Het
Znfx1 G T 2: 167,036,923 H980Q probably damaging Het
Other mutations in Lce1j
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0386:Lce1j UTSW 3 92789388 missense unknown
R6047:Lce1j UTSW 3 92789196 missense unknown
R6155:Lce1j UTSW 3 92789072 missense unknown
R6468:Lce1j UTSW 3 92789422 nonsense probably null
R6844:Lce1j UTSW 3 92789349 missense unknown
Posted On2015-08-05