Incidental Mutation 'R1653:Lce1h'
ID 188841
Institutional Source Beutler Lab
Gene Symbol Lce1h
Ensembl Gene ENSMUSG00000049593
Gene Name late cornified envelope 1H
Synonyms 2310066F03Rik, Sprrl9
MMRRC Submission 039689-MU
Accession Numbers
Essential gene? Not available question?
Stock # R1653 (G1)
Quality Score 225
Status Not validated
Chromosome 3
Chromosomal Location 92763215-92765065 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to A at 92763443 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Glutamine to Leucine at position 134 (Q134L)
Ref Sequence ENSEMBL: ENSMUSP00000058647 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000051521]
AlphaFold Q9D6R3
Predicted Effect unknown
Transcript: ENSMUST00000051521
AA Change: Q134L
SMART Domains Protein: ENSMUSP00000058647
Gene: ENSMUSG00000049593
AA Change: Q134L

low complexity region 2 39 N/A INTRINSIC
Pfam:LCE 59 121 6e-10 PFAM
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.4%
  • 20x: 92.7%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9130019O22Rik G T 7: 127,384,480 (GRCm38) H483Q possibly damaging Het
Adam34 A T 8: 43,650,645 (GRCm38) C654* probably null Het
Adamts19 T A 18: 58,890,293 (GRCm38) N253K probably benign Het
Adgrb3 A G 1: 25,101,503 (GRCm38) L1162S probably benign Het
Ap2b1 T A 11: 83,346,831 (GRCm38) Y574N probably damaging Het
Atrn A G 2: 130,935,624 (GRCm38) I198V probably benign Het
Bcan T A 3: 87,994,196 (GRCm38) I400F probably damaging Het
Capn10 A G 1: 92,946,898 (GRCm38) Y617C probably damaging Het
Capn8 A G 1: 182,623,951 (GRCm38) N578D probably benign Het
Casd1 T C 6: 4,624,134 (GRCm38) L309P probably benign Het
Ccser1 T A 6: 61,311,465 (GRCm38) I204K probably benign Het
Cd276 T C 9: 58,537,449 (GRCm38) T80A probably benign Het
Cdh3 T C 8: 106,539,068 (GRCm38) S248P probably damaging Het
Celsr2 T C 3: 108,413,520 (GRCm38) T659A possibly damaging Het
Col6a4 C T 9: 106,072,409 (GRCm38) V676I probably damaging Het
Crmp1 T A 5: 37,286,468 (GRCm38) V575D probably damaging Het
Ep400 G A 5: 110,693,174 (GRCm38) Q1795* probably null Het
Gcnt3 A G 9: 70,035,077 (GRCm38) C70R probably damaging Het
Gm12258 T C 11: 58,858,287 (GRCm38) I96T possibly damaging Het
Gpr183 A G 14: 121,954,263 (GRCm38) F282S probably damaging Het
Igfals T C 17: 24,881,078 (GRCm38) V381A probably benign Het
Irs3 C A 5: 137,644,521 (GRCm38) L218F probably damaging Het
Kdm5b T C 1: 134,602,481 (GRCm38) F410S probably damaging Het
Klc4 T C 17: 46,631,859 (GRCm38) Y593C possibly damaging Het
Lyst T C 13: 13,635,226 (GRCm38) S494P probably damaging Het
March3 A G 18: 56,811,895 (GRCm38) M42T probably benign Het
Myh7 A G 14: 54,990,789 (GRCm38) I250T probably benign Het
N4bp1 G T 8: 86,844,948 (GRCm38) H807Q probably benign Het
Ndn C T 7: 62,348,508 (GRCm38) P34L probably benign Het
Nfs1 C T 2: 156,125,336 (GRCm38) G44D probably damaging Het
Nrg1 C T 8: 31,818,653 (GRCm38) R445H probably damaging Het
Olfr1507 A T 14: 52,490,772 (GRCm38) F64Y probably damaging Het
Olfr299 T C 7: 86,466,212 (GRCm38) V267A probably benign Het
Olfr683 T A 7: 105,143,870 (GRCm38) D141V possibly damaging Het
Pak7 C T 2: 136,116,887 (GRCm38) V94M probably damaging Het
Pdk1 G A 2: 71,888,995 (GRCm38) probably null Het
Sin3b G T 8: 72,741,519 (GRCm38) V290L probably benign Het
Sirt1 T C 10: 63,321,809 (GRCm38) T609A probably benign Het
Skint5 A T 4: 113,490,678 (GRCm38) S1289T unknown Het
Slc32a1 A T 2: 158,614,889 (GRCm38) H488L probably benign Het
Slc35b3 A G 13: 38,955,798 (GRCm38) S18P probably benign Het
Spaca7 T A 8: 12,586,501 (GRCm38) I109K possibly damaging Het
Tmem204 A G 17: 25,080,527 (GRCm38) L6P possibly damaging Het
Tubgcp6 G A 15: 89,107,442 (GRCm38) R651C probably damaging Het
Vps13b T A 15: 35,607,272 (GRCm38) L1117* probably null Het
Wdcp T C 12: 4,851,815 (GRCm38) L557P probably damaging Het
Wwp2 T C 8: 107,483,410 (GRCm38) F140S possibly damaging Het
Zfp429 C T 13: 67,389,924 (GRCm38) R467H possibly damaging Het
Zfp839 T A 12: 110,855,250 (GRCm38) M166K probably benign Het
Zfyve9 G A 4: 108,660,577 (GRCm38) Q1106* probably null Het
Zrsr1 T A 11: 22,974,158 (GRCm38) C311S probably damaging Het
Other mutations in Lce1h
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02487:Lce1h APN 3 92,763,741 (GRCm38) missense unknown
R3153:Lce1h UTSW 3 92,763,675 (GRCm38) missense unknown
R4688:Lce1h UTSW 3 92,763,567 (GRCm38) missense unknown
R4867:Lce1h UTSW 3 92,763,463 (GRCm38) missense unknown
R5439:Lce1h UTSW 3 92,763,720 (GRCm38) missense unknown
R8939:Lce1h UTSW 3 92,763,669 (GRCm38) missense unknown
Predicted Primers PCR Primer

Sequencing Primer
(R):5'- tgccctccaaaatgccc -3'
Posted On 2014-05-09