Incidental Mutation 'IGL02487:Lce1h'
ID295467
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Lce1h
Ensembl Gene ENSMUSG00000049593
Gene Namelate cornified envelope 1H
Synonyms2310066F03Rik, Sprrl9
Accession Numbers
Is this an essential gene? Not available question?
Stock #IGL02487
Quality Score
Status
Chromosome3
Chromosomal Location92763215-92765065 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to A at 92763741 bp
ZygosityHeterozygous
Amino Acid Change Proline to Serine at position 35 (P35S)
Ref Sequence ENSEMBL: ENSMUSP00000058647 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000051521]
Predicted Effect unknown
Transcript: ENSMUST00000051521
AA Change: P35S
SMART Domains Protein: ENSMUSP00000058647
Gene: ENSMUSG00000049593
AA Change: P35S

DomainStartEndE-ValueType
low complexity region 2 39 N/A INTRINSIC
Pfam:LCE 59 121 6e-10 PFAM
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acsl6 T A 11: 54,336,943 I308N possibly damaging Het
Adal C T 2: 121,155,396 T204I probably benign Het
Akirin1 A G 4: 123,743,564 F76S probably benign Het
Arhgef5 A T 6: 43,283,982 N1447I probably damaging Het
Atp2a3 C A 11: 72,975,339 H262N probably benign Het
B230217C12Rik A G 11: 97,842,228 N125S probably benign Het
Dcaf11 G T 14: 55,569,114 K457N probably benign Het
Dnah10 G A 5: 124,793,852 V2348M possibly damaging Het
Eif4g3 T C 4: 138,203,378 V1665A possibly damaging Het
Fat4 A T 3: 38,887,245 I96F probably damaging Het
Gm21671 T A 5: 25,951,607 I125F probably benign Het
Gm29253 T C 1: 75,172,677 probably null Het
Gm4759 A G 7: 106,423,264 noncoding transcript Het
Hnrnpm C A 17: 33,648,813 G676C probably damaging Het
Iah1 T C 12: 21,321,439 M185T probably damaging Het
Klc1 A T 12: 111,772,452 I45F probably damaging Het
Lrrc37a T C 11: 103,496,037 E2419G unknown Het
Lrrc8c T A 5: 105,606,591 S77R probably benign Het
Mcm3ap T A 10: 76,507,555 probably benign Het
Mon1b G T 8: 113,638,823 R261L possibly damaging Het
Ntng1 A T 3: 109,935,047 S137T probably damaging Het
Odf2 C A 2: 29,920,839 A578E possibly damaging Het
Pecam1 G A 11: 106,671,780 T698I probably damaging Het
Pex10 A T 4: 155,070,733 H288L probably damaging Het
Pkhd1l1 T C 15: 44,459,426 V36A possibly damaging Het
Podxl T C 6: 31,523,022 *504W probably null Het
Rab42 A G 4: 132,302,303 S203P probably benign Het
Rsf1 T C 7: 97,639,491 S192P probably damaging Het
Scap C T 9: 110,378,690 T489I probably benign Het
Sost C A 11: 101,966,807 R56L possibly damaging Het
Sptbn4 A G 7: 27,419,097 V264A probably damaging Het
Stx3 A G 19: 11,783,105 V236A probably damaging Het
Syt2 T C 1: 134,740,865 F5S probably damaging Het
Tex43 T A 18: 56,594,499 W90R possibly damaging Het
Thrap3 T C 4: 126,167,001 D855G possibly damaging Het
Ticrr T C 7: 79,683,021 V874A possibly damaging Het
Tmem26 A G 10: 68,778,733 E326G probably benign Het
Tsga13 A T 6: 30,907,427 Y119N probably damaging Het
Tspoap1 C T 11: 87,762,516 T136I possibly damaging Het
Ttc21b T C 2: 66,235,156 T425A probably benign Het
Ttc27 A G 17: 74,856,554 Y719C probably damaging Het
Usp10 C A 8: 119,948,775 S511Y probably damaging Het
Vmn1r197 A G 13: 22,328,622 M238V probably damaging Het
Other mutations in Lce1h
AlleleSourceChrCoordTypePredicted EffectPPH Score
R1653:Lce1h UTSW 3 92763443 missense unknown
R3153:Lce1h UTSW 3 92763675 missense unknown
R4688:Lce1h UTSW 3 92763567 missense unknown
R4867:Lce1h UTSW 3 92763463 missense unknown
R5439:Lce1h UTSW 3 92763720 missense unknown
Posted On2015-04-16