Incidental Mutation 'IGL02664:Lce6a'
ID 302680
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Lce6a
Ensembl Gene ENSMUSG00000086848
Gene Name late cornified envelope 6A
Synonyms 2210420J11Rik
Accession Numbers
Essential gene? Not available question?
Stock # IGL02664
Quality Score
Status
Chromosome 3
Chromosomal Location 92527388-92528967 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 92527607 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Serine at position 67 (C67S)
Ref Sequence ENSEMBL: ENSMUSP00000128725 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000138403] [ENSMUST00000170676]
AlphaFold D3YV94
Predicted Effect possibly damaging
Transcript: ENSMUST00000138403
AA Change: C67S

PolyPhen 2 Score 0.711 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000114595
Gene: ENSMUSG00000086848
AA Change: C67S

DomainStartEndE-ValueType
Pfam:LCE6A 1 81 4.2e-46 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000170676
AA Change: C67S

PolyPhen 2 Score 0.711 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000128725
Gene: ENSMUSG00000086848
AA Change: C67S

DomainStartEndE-ValueType
low complexity region 25 46 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ablim2 A T 5: 36,006,860 (GRCm39) D425V probably damaging Het
Afdn G T 17: 14,072,728 (GRCm39) probably benign Het
Afg2a A G 3: 37,490,814 (GRCm39) D453G probably damaging Het
Ap2a2 C T 7: 141,209,136 (GRCm39) T776I probably benign Het
Apcdd1 T C 18: 63,084,891 (GRCm39) probably benign Het
Bdp1 A T 13: 100,188,047 (GRCm39) Y1513N probably benign Het
Btaf1 T C 19: 36,955,828 (GRCm39) probably benign Het
C2cd3 A T 7: 100,068,922 (GRCm39) M917L possibly damaging Het
Cmtm6 T C 9: 114,575,613 (GRCm39) V174A probably benign Het
Cyp2d12 T A 15: 82,443,535 (GRCm39) I448K probably benign Het
Ddb1 A G 19: 10,585,247 (GRCm39) I101V probably benign Het
Dicer1 A G 12: 104,671,388 (GRCm39) Y961H probably damaging Het
Dnaaf1 T G 8: 120,309,260 (GRCm39) I116S probably damaging Het
Ecscr T A 18: 35,854,451 (GRCm39) I5F possibly damaging Het
Eftud2 T C 11: 102,732,538 (GRCm39) E691G probably damaging Het
Fat2 A G 11: 55,201,922 (GRCm39) V384A probably damaging Het
Ftcd T C 10: 76,420,439 (GRCm39) M391T probably damaging Het
Gab2 T G 7: 96,953,389 (GRCm39) S587R probably damaging Het
Gm18856 G A 13: 14,139,809 (GRCm39) probably benign Het
Herc2 A T 7: 55,785,426 (GRCm39) R1559* probably null Het
Inpp5f G A 7: 128,265,738 (GRCm39) R161H probably damaging Het
Iws1 A T 18: 32,203,217 (GRCm39) D31V possibly damaging Het
Klhl2 A T 8: 65,205,801 (GRCm39) Y373* probably null Het
Lrba A G 3: 86,233,038 (GRCm39) I800V possibly damaging Het
Mis18bp1 A C 12: 65,200,654 (GRCm39) Y407* probably null Het
Mllt3 A C 4: 87,949,860 (GRCm39) W29G probably damaging Het
Mon2 A G 10: 122,845,401 (GRCm39) probably benign Het
Mtbp C T 15: 55,483,039 (GRCm39) T372M probably benign Het
Nefm A T 14: 68,357,664 (GRCm39) probably benign Het
Nf1 A T 11: 79,335,424 (GRCm39) probably null Het
Nf1 G A 11: 79,335,425 (GRCm39) probably null Het
Ntn1 T A 11: 68,276,295 (GRCm39) I218F probably benign Het
Numa1 T G 7: 101,648,109 (GRCm39) S613R possibly damaging Het
Or14a259 C T 7: 86,012,811 (GRCm39) V245I possibly damaging Het
Pcsk5 A T 19: 17,434,134 (GRCm39) D1411E probably damaging Het
Prl2b1 G T 13: 27,569,225 (GRCm39) N124K possibly damaging Het
Rab15 T C 12: 76,851,225 (GRCm39) I30M possibly damaging Het
Rnf215 G T 11: 4,090,307 (GRCm39) V342L probably damaging Het
Saxo4 A T 19: 10,459,655 (GRCm39) S17R probably damaging Het
Togaram2 T A 17: 72,036,234 (GRCm39) I908N probably damaging Het
Trim54 A G 5: 31,293,391 (GRCm39) N205S probably damaging Het
Ttn G A 2: 76,697,795 (GRCm39) T80I possibly damaging Het
Vmn2r106 G A 17: 20,488,344 (GRCm39) T685I possibly damaging Het
Vwa5b2 T C 16: 20,414,063 (GRCm39) probably benign Het
Zfat A T 15: 68,052,570 (GRCm39) I401N probably damaging Het
Zfp40 G A 17: 23,395,960 (GRCm39) S209F probably benign Het
Other mutations in Lce6a
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0540:Lce6a UTSW 3 92,527,635 (GRCm39) missense probably benign 0.00
R0607:Lce6a UTSW 3 92,527,635 (GRCm39) missense probably benign 0.00
R7808:Lce6a UTSW 3 92,527,642 (GRCm39) missense probably benign 0.01
Posted On 2015-04-16