Incidental Mutation 'R0691:Lce1e'
ID63954
Institutional Source Beutler Lab
Gene Symbol Lce1e
Ensembl Gene ENSMUSG00000068889
Gene Namelate cornified envelope 1E
Synonyms
MMRRC Submission 038876-MU
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.066) question?
Stock #R0691 (G1)
Quality Score167
Status Validated
Chromosome3
Chromosomal Location92707401-92709074 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to A at 92707756 bp
ZygosityHeterozygous
Amino Acid Change Arginine to Cysteine at position 95 (R95C)
Ref Sequence ENSEMBL: ENSMUSP00000088380 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000090867]
Predicted Effect unknown
Transcript: ENSMUST00000090867
AA Change: R95C
SMART Domains Protein: ENSMUSP00000088380
Gene: ENSMUSG00000068889
AA Change: R95C

DomainStartEndE-ValueType
Pfam:LCE 25 68 3.8e-12 PFAM
Pfam:LCE 64 129 7.3e-10 PFAM
Meta Mutation Damage Score 0.1021 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.8%
  • 10x: 97.5%
  • 20x: 95.4%
Validation Efficiency 97% (58/60)
Allele List at MGI
Other mutations in this stock
Total: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc9 T C 6: 142,639,253 D865G possibly damaging Het
Acy1 A T 9: 106,435,871 probably null Het
Adcy4 A T 14: 55,772,647 probably benign Het
Anpep T G 7: 79,839,299 D347A probably damaging Het
Arhgap28 C T 17: 67,896,164 probably null Het
Ccdc32 A G 2: 119,027,129 probably benign Het
Cdc42bpa A G 1: 180,144,835 T1401A possibly damaging Het
Celsr2 A G 3: 108,412,623 Y958H probably damaging Het
Cenpe A G 3: 135,217,305 E137G probably damaging Het
Chd8 T C 14: 52,213,433 D1399G probably damaging Het
Cntn3 T C 6: 102,168,947 T978A possibly damaging Het
Col10a1 A G 10: 34,395,696 T555A possibly damaging Het
Crybg3 A C 16: 59,565,211 probably null Het
Cts7 A G 13: 61,355,734 F139L probably damaging Het
Dera T C 6: 137,796,747 probably benign Het
Dgka A G 10: 128,723,260 probably benign Het
Dhrs7 T A 12: 72,652,351 I286F probably damaging Het
Dtwd2 A G 18: 49,728,357 probably benign Het
Fam160b2 T C 14: 70,588,287 D351G probably damaging Het
Fermt1 A G 2: 132,906,733 S657P probably damaging Het
Flnb T C 14: 7,890,810 V564A probably benign Het
Garnl3 A G 2: 33,085,907 F16L probably damaging Het
Gck T C 11: 5,906,691 R191G probably damaging Het
Gucy1b1 A T 3: 82,045,634 probably benign Het
Ifna2 A C 4: 88,683,658 L41R probably damaging Het
Krt33a T G 11: 100,012,715 E197A probably damaging Het
Lct G T 1: 128,308,234 S345R probably benign Het
Lrp2 A T 2: 69,451,380 N3882K probably benign Het
Mcc G T 18: 44,445,860 T652K possibly damaging Het
Mier1 A G 4: 103,139,502 S109G probably benign Het
Nfat5 A G 8: 107,355,605 N469S probably damaging Het
Olfr382 C A 11: 73,516,844 M118I possibly damaging Het
Olfr807 G A 10: 129,755,402 T16I probably damaging Het
Piwil1 G T 5: 128,743,307 R256M probably null Het
Rgma T C 7: 73,409,412 V88A probably damaging Het
Sdk2 T C 11: 113,794,920 probably null Het
Sec22b A G 3: 97,912,674 E94G probably damaging Het
Snrnp70 T C 7: 45,387,245 R131G possibly damaging Het
Spata31d1a A G 13: 59,700,385 S1310P possibly damaging Het
Spint1 A G 2: 119,246,467 E344G probably damaging Het
Srrm1 G A 4: 135,324,991 Q141* probably null Het
Tecta A T 9: 42,384,341 L286Q probably damaging Het
Tep1 T A 14: 50,866,844 K198* probably null Het
Tk2 A G 8: 104,231,192 V174A probably benign Het
Txndc5 T C 13: 38,507,896 K165E probably damaging Het
Ubr4 G A 4: 139,423,906 R1884Q probably damaging Het
Vmn2r61 T C 7: 42,300,420 Y755H probably damaging Het
Xrn1 T A 9: 95,973,539 H296Q probably damaging Het
Zar1l A T 5: 150,512,942 V223D probably damaging Het
Other mutations in Lce1e
AlleleSourceChrCoordTypePredicted EffectPPH Score
R1370:Lce1e UTSW 3 92707843 missense unknown
R1759:Lce1e UTSW 3 92707871 nonsense probably null
R2842:Lce1e UTSW 3 92707749 missense unknown
R4451:Lce1e UTSW 3 92707660 missense unknown
R4863:Lce1e UTSW 3 92707871 nonsense probably null
R4983:Lce1e UTSW 3 92707828 missense unknown
R5080:Lce1e UTSW 3 92707830 missense unknown
R6017:Lce1e UTSW 3 92707933 nonsense probably null
Z1088:Lce1e UTSW 3 92707849 missense unknown
Predicted Primers PCR Primer
(F):5'- TGAAGTCTTCCTCACCCAGCTCAG -3'
(R):5'- ACTTCTTAGCAGGGTAGAGCAGGATG -3'

Sequencing Primer
(F):5'- TCAGCAGCAGTCCCCAG -3'
(R):5'- atgccctcccaaatgcc -3'
Posted On2013-07-30