Incidental Mutation 'IGL00586:Lce1a1'
ID6830
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Lce1a1
Ensembl Gene ENSMUSG00000057609
Gene Namelate cornified envelope 1A1
SynonymsSprrl3, 2200008B06Rik
Accession Numbers
Is this an essential gene? Not available question?
Stock #IGL00586
Quality Score
Status
Chromosome3
Chromosomal Location92646535-92648307 bp(-) (GRCm38)
Type of Mutationstart codon destroyed
DNA Base Change (assembly) C to T at 92647163 bp
ZygosityHeterozygous
Amino Acid Change Methionine to Isoleucine at position 1 (M1I)
Ref Sequence ENSEMBL: ENSMUSP00000073776 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000074142]
Predicted Effect probably null
Transcript: ENSMUST00000074142
AA Change: M1I
SMART Domains Protein: ENSMUSP00000073776
Gene: ENSMUSG00000057609
AA Change: M1I

DomainStartEndE-ValueType
Pfam:LCE 21 61 1.5e-12 PFAM
Pfam:LCE 60 120 1.7e-11 PFAM
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 28 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arl5b T C 2: 15,069,935 S76P probably benign Het
Asap3 A C 4: 136,206,568 D17A probably damaging Het
Casc1 A T 6: 145,191,576 F269I possibly damaging Het
Ccdc24 C T 4: 117,872,046 R78H probably damaging Het
Crp T C 1: 172,699,001 F218L probably benign Het
Dab2 T C 15: 6,429,825 L385P probably benign Het
Dip2c C A 13: 9,610,755 T855N probably damaging Het
Ep400 A G 5: 110,739,594 V541A probably damaging Het
Gbgt1 A T 2: 28,502,195 probably null Het
Gm5771 T C 6: 41,396,115 I107T probably damaging Het
Gm6871 A T 7: 41,546,421 D297E possibly damaging Het
Gpr107 T A 2: 31,171,994 F145I probably benign Het
Itgb6 T G 2: 60,620,352 D581A probably benign Het
Lmbrd2 G A 15: 9,157,295 V207M probably damaging Het
Muc5b T A 7: 141,841,392 V45E unknown Het
Mybpc2 A G 7: 44,505,382 V977A probably damaging Het
Oas1c T C 5: 120,808,679 T29A probably benign Het
Pdzd2 G T 15: 12,365,767 probably null Het
Plk2 T C 13: 110,396,378 Y158H possibly damaging Het
Ptprq A G 10: 107,608,122 probably benign Het
Rnf17 C T 14: 56,421,082 T76I probably damaging Het
Serpinb1c T C 13: 32,883,975 K213E probably damaging Het
Sidt2 A G 9: 45,943,052 V624A possibly damaging Het
Sin3b T C 8: 72,757,000 V1005A probably benign Het
Ubr4 T C 4: 139,455,184 V358A possibly damaging Het
Wdr60 A T 12: 116,241,780 D396E probably benign Het
Zfp120 T C 2: 150,119,828 I67V possibly damaging Het
Zfp942 A T 17: 21,928,624 H341Q probably damaging Het
Other mutations in Lce1a1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02987:Lce1a1 APN 3 92647102 missense unknown
FR4340:Lce1a1 UTSW 3 92646844 missense unknown
R1863:Lce1a1 UTSW 3 92646811 missense unknown
R2171:Lce1a1 UTSW 3 92646741 missense unknown
Posted On2012-04-20