Incidental Mutation 'RF059:Lce1m'
ID 605348
Institutional Source Beutler Lab
Gene Symbol Lce1m
Ensembl Gene ENSMUSG00000027912
Gene Name late cornified envelope 1M
Synonyms 1110059L13Rik, Sprrl10, Lce5a
Accession Numbers
Essential gene? Not available question?
Stock # RF059 (G1)
Quality Score 169.468
Status Not validated
Chromosome 3
Chromosomal Location 92925117-92926367 bp(-) (GRCm39)
Type of Mutation unclassified
DNA Base Change (assembly) GCTGCTGCCACCGCTGCTGCCACCGCTGCTGCCACAGCAACTGCTGCCACCGCTGCTGCCAC to GCTGCTGCCACCGCTGCTGCCAC at 92925636 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000141488 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029520] [ENSMUST00000029521] [ENSMUST00000107301] [ENSMUST00000193944]
AlphaFold Q9CR91
Predicted Effect probably benign
Transcript: ENSMUST00000029520
SMART Domains Protein: ENSMUSP00000029520
Gene: ENSMUSG00000027912

DomainStartEndE-ValueType
Pfam:LCE 9 96 5.4e-18 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000029521
SMART Domains Protein: ENSMUSP00000029521
Gene: ENSMUSG00000027913

DomainStartEndE-ValueType
low complexity region 12 102 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000107301
SMART Domains Protein: ENSMUSP00000102922
Gene: ENSMUSG00000027913

DomainStartEndE-ValueType
Pfam:NICE-1 5 100 5.4e-36 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000193944
Coding Region Coverage
  • 1x: 99.7%
  • 3x: 99.6%
  • 10x: 99.2%
  • 20x: 98.2%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 19 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A030005L19Rik CTGTGGCTG CTGTGGCTGGTGTGGCTG 1: 82,891,300 (GRCm39) probably benign Het
AY761185 CTGTGGGCACTT CT 8: 21,433,930 (GRCm39) probably null Het
Cherp GACCTGGA G 8: 73,215,899 (GRCm39) probably null Het
Cpox C T 16: 58,491,130 (GRCm39) R114C probably benign Het
Cyb5r4 GGGA GGGATGTGACAGACACACTGCCCAAGGA 9: 86,922,498 (GRCm39) probably benign Het
Dnmt1 ACCTCGTT ACCTCGTTTTGGGGGCGGAGCACAGTTCCTCCCTCGTT 9: 20,821,434 (GRCm39) probably benign Het
Dnmt1 CCTCGTT CCTCGTTTTGGGGGCGGAGCACAGTTCCTATCTCGTT 9: 20,821,435 (GRCm39) probably null Het
Gab3 TCT TCTGCT X: 74,043,596 (GRCm39) probably benign Het
Gabre TC TCTGGCAC X: 71,314,370 (GRCm39) probably benign Het
Hsdl2 G GCAGCAGCCACAGCTGCAA 4: 59,610,658 (GRCm39) probably benign Het
Klra2 GAAAGAAATCCA GAAAGAAATCCAAAGAAATCCA 6: 131,198,801 (GRCm39) probably null Het
Kmt2c CCTTCT CCT 5: 25,518,477 (GRCm39) probably benign Het
Krtap28-10 CCACAGCCACCACAG CCACAGCCACCACAGACACAGCCACCACAG 1: 83,019,996 (GRCm39) probably benign Het
Krtap28-10 C CCACAGCCACCACAGA 1: 83,020,011 (GRCm39) probably benign Het
Lca5l TGGCCCTGGCCCCGGCCC TGGCCC 16: 95,960,501 (GRCm39) probably benign Het
Mamld1 AGC AGCGGC X: 70,162,438 (GRCm39) probably benign Het
Mcph1 CTCT CTCTTCT 8: 18,702,541 (GRCm39) probably benign Het
Sbp GACAACAAAGATG GACAACAAAGATGCTTACAACAAAGATG 17: 24,164,351 (GRCm39) probably benign Het
Sprr2b ATGCTGTGAGCCTTGTCCTCCTCCAAAGTGC ATGC 3: 92,224,875 (GRCm39) probably benign Het
Other mutations in Lce1m
AlleleSourceChrCoordTypePredicted EffectPPH Score
FR4342:Lce1m UTSW 3 92,925,554 (GRCm39) unclassified probably benign
FR4449:Lce1m UTSW 3 92,925,459 (GRCm39) unclassified probably benign
FR4589:Lce1m UTSW 3 92,925,575 (GRCm39) unclassified probably benign
FR4976:Lce1m UTSW 3 92,925,455 (GRCm39) unclassified probably benign
R1513:Lce1m UTSW 3 92,925,932 (GRCm39) unclassified probably benign
R7621:Lce1m UTSW 3 92,925,177 (GRCm39) splice site probably null
R7753:Lce1m UTSW 3 92,925,815 (GRCm39) missense unknown
RF001:Lce1m UTSW 3 92,925,576 (GRCm39) unclassified probably benign
RF001:Lce1m UTSW 3 92,925,459 (GRCm39) unclassified probably benign
RF002:Lce1m UTSW 3 92,925,606 (GRCm39) unclassified probably benign
RF002:Lce1m UTSW 3 92,925,590 (GRCm39) unclassified probably benign
RF007:Lce1m UTSW 3 92,925,451 (GRCm39) unclassified probably benign
RF009:Lce1m UTSW 3 92,925,438 (GRCm39) unclassified probably benign
RF010:Lce1m UTSW 3 92,925,597 (GRCm39) unclassified probably benign
RF015:Lce1m UTSW 3 92,925,455 (GRCm39) unclassified probably benign
RF021:Lce1m UTSW 3 92,925,602 (GRCm39) unclassified probably benign
RF021:Lce1m UTSW 3 92,925,576 (GRCm39) unclassified probably benign
RF023:Lce1m UTSW 3 92,925,587 (GRCm39) unclassified probably benign
RF026:Lce1m UTSW 3 92,925,450 (GRCm39) unclassified probably benign
RF026:Lce1m UTSW 3 92,925,445 (GRCm39) unclassified probably benign
RF028:Lce1m UTSW 3 92,925,438 (GRCm39) unclassified probably benign
RF030:Lce1m UTSW 3 92,925,651 (GRCm39) unclassified probably benign
RF030:Lce1m UTSW 3 92,925,448 (GRCm39) unclassified probably benign
RF037:Lce1m UTSW 3 92,925,607 (GRCm39) unclassified probably benign
RF041:Lce1m UTSW 3 92,925,448 (GRCm39) unclassified probably benign
RF042:Lce1m UTSW 3 92,925,446 (GRCm39) unclassified probably benign
RF045:Lce1m UTSW 3 92,925,599 (GRCm39) unclassified probably benign
RF046:Lce1m UTSW 3 92,925,600 (GRCm39) unclassified probably benign
RF054:Lce1m UTSW 3 92,925,605 (GRCm39) unclassified probably benign
Predicted Primers PCR Primer
(F):5'- ATGTTCTTCGTGGCCAGGTC -3'
(R):5'- AGATGTCCTGTCAGCAGAGC -3'

Sequencing Primer
(F):5'- CCAGACTGCTGATGGCTG -3'
(R):5'- CCTGCTGTAGCCTGGGTTC -3'
Posted On 2019-12-04