Incidental Mutation 'IGL03202:Lce1l'
ID413024
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Lce1l
Ensembl Gene ENSMUSG00000046676
Gene Namelate cornified envelope 1L
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.085) question?
Stock #IGL03202
Quality Score
Status
Chromosome3
Chromosomal Location92849949-92851286 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 92850324 bp
ZygosityHeterozygous
Amino Acid Change Cysteine to Serine at position 76 (C76S)
Ref Sequence ENSEMBL: ENSMUSP00000057762 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000054426]
Predicted Effect unknown
Transcript: ENSMUST00000054426
AA Change: C76S
SMART Domains Protein: ENSMUSP00000057762
Gene: ENSMUSG00000046676
AA Change: C76S

DomainStartEndE-ValueType
Pfam:LCE 25 67 1.6e-12 PFAM
Pfam:LCE 65 135 2.5e-9 PFAM
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700113H08Rik T C 10: 87,074,047 M1T probably null Het
2810474O19Rik G A 6: 149,326,439 V328I probably benign Het
Ace T A 11: 105,976,962 I168N probably damaging Het
Actr10 T G 12: 70,940,831 C37W probably damaging Het
Atp10b T C 11: 43,234,441 probably null Het
Bend5 A G 4: 111,433,244 N146D possibly damaging Het
Cacna1b A G 2: 24,651,112 F1347L probably damaging Het
Crybg3 T A 16: 59,494,709 I2910F probably damaging Het
Cspg4 T C 9: 56,897,739 S1945P possibly damaging Het
Cxcr4 T G 1: 128,588,904 K340T probably damaging Het
Dnah6 T A 6: 73,144,700 Y1433F probably damaging Het
Eif2ak4 T C 2: 118,400,620 V77A probably damaging Het
Fscn3 A T 6: 28,434,452 H342L probably benign Het
Gm884 T A 11: 103,615,373 E1923V probably benign Het
Gm9843 T C 16: 76,403,346 noncoding transcript Het
Hdac9 T C 12: 34,373,951 E520G probably damaging Het
Itm2b G A 14: 73,365,789 P120L probably damaging Het
Itpa T A 2: 130,667,939 probably benign Het
Lin54 A G 5: 100,475,814 S55P possibly damaging Het
Mtfmt C A 9: 65,448,726 P303Q probably damaging Het
Nae1 A T 8: 104,518,179 probably benign Het
Ncapd3 T A 9: 27,071,715 probably benign Het
Olfr381 G A 11: 73,486,525 Q100* probably null Het
Olfr525 A G 7: 140,323,106 M136V possibly damaging Het
Pcnx2 A C 8: 125,772,044 I1572S probably damaging Het
Piezo2 A T 18: 63,011,598 Y2809N probably damaging Het
Pygl G T 12: 70,199,646 Q376K probably benign Het
Rrp12 T C 19: 41,868,766 probably null Het
Sephs1 A T 2: 4,889,263 I92F possibly damaging Het
Taar4 T C 10: 23,960,794 F101L probably damaging Het
Tenm2 A G 11: 36,024,548 I2053T probably damaging Het
Tgfbr3 T G 5: 107,109,764 probably benign Het
Vmn2r108 A T 17: 20,471,057 Y401* probably null Het
Vmn2r87 A G 10: 130,497,222 M53T probably benign Het
Zfp941 A G 7: 140,813,053 V131A probably benign Het
Other mutations in Lce1l
AlleleSourceChrCoordTypePredicted EffectPPH Score
R1724:Lce1l UTSW 3 92850419 missense unknown
R4075:Lce1l UTSW 3 92850233 missense unknown
R4515:Lce1l UTSW 3 92850474 missense unknown
R5531:Lce1l UTSW 3 92850497 missense unknown
R6785:Lce1l UTSW 3 92850193 nonsense probably null
R7298:Lce1l UTSW 3 92850176 missense unknown
Posted On2016-08-02