Incidental Mutation 'IGL02987:Lce1a1'
ID406748
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 #IGL02987
Quality Score
Status
Chromosome3
Chromosomal Location92646535-92648307 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 92647102 bp
ZygosityHeterozygous
Amino Acid Change Threonine to Alanine at position 22 (T22A)
Ref Sequence ENSEMBL: ENSMUSP00000073776 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000074142]
Predicted Effect unknown
Transcript: ENSMUST00000074142
AA Change: T22A
SMART Domains Protein: ENSMUSP00000073776
Gene: ENSMUSG00000057609
AA Change: T22A

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: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Akr1e1 T C 13: 4,593,592 D222G probably damaging Het
Apbb1ip T A 2: 22,867,637 Y422* probably null Het
Asf1a T C 10: 53,597,271 F28L probably damaging Het
Atp6v1c1 T A 15: 38,690,562 M319K possibly damaging Het
Bsn A G 9: 108,126,304 S301P probably benign Het
Cds1 A G 5: 101,812,525 I281V possibly damaging Het
Col4a4 T C 1: 82,498,925 probably benign Het
Coq2 G A 5: 100,663,688 Q103* probably null Het
Dgkh A G 14: 78,589,872 probably null Het
Dnah9 C A 11: 65,841,273 R4269L probably benign Het
Dnah9 A G 11: 65,855,272 I4005T probably damaging Het
F2rl1 T A 13: 95,514,233 Q47L probably benign Het
Fhod3 T C 18: 25,113,553 V1272A possibly damaging Het
Gdpd4 T C 7: 97,961,551 probably benign Het
Gfral A G 9: 76,197,301 V143A possibly damaging Het
Gltp A C 5: 114,674,182 F88V probably benign Het
Hectd1 T G 12: 51,744,767 K2565T probably damaging Het
Jade2 A G 11: 51,830,481 S207P probably damaging Het
Khdc3 A G 9: 73,102,666 I53V possibly damaging Het
Lgals9 A T 11: 78,967,477 H196Q possibly damaging Het
Lrrc37a A T 11: 103,500,413 N1395K probably benign Het
Mast1 C T 8: 84,925,719 V268I possibly damaging Het
Myh11 T G 16: 14,232,532 E523A probably damaging Het
Napb T C 2: 148,697,511 probably null Het
Nlrp4e G A 7: 23,301,433 R51H probably damaging Het
Ola1 T C 2: 73,156,898 D130G probably benign Het
Olfr891 A T 9: 38,180,623 S67T possibly damaging Het
Pard3 G A 8: 127,389,491 C687Y probably damaging Het
Rassf9 A G 10: 102,545,248 T164A possibly damaging Het
Sema3a A G 5: 13,565,896 Y429C probably damaging Het
Slc25a54 T C 3: 109,116,337 V416A probably benign Het
Slc30a5 T C 13: 100,803,915 T631A probably damaging Het
Sorl1 A T 9: 42,041,053 C736S probably damaging Het
Tet3 A T 6: 83,368,092 S1788T probably damaging Het
Trim42 A G 9: 97,365,815 V276A probably benign Het
Other mutations in Lce1a1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00586:Lce1a1 APN 3 92647163 start codon destroyed probably null
FR4340:Lce1a1 UTSW 3 92646844 missense unknown
R1863:Lce1a1 UTSW 3 92646811 missense unknown
R2171:Lce1a1 UTSW 3 92646741 missense unknown
Posted On2016-08-02