Incidental Mutation 'R6275:Ces1h'
ID507583
Institutional Source Beutler Lab
Gene Symbol Ces1h
Ensembl Gene ENSMUSG00000074156
Gene Namecarboxylesterase 1H
Synonyms2310039D24Rik
MMRRC Submission
Accession Numbers

NCBI RefSeq: XM_134476.7; MGI:1922954

Is this an essential gene? Probably non essential (E-score: 0.054) question?
Stock #R6275 (G1)
Quality Score225.009
Status Validated
Chromosome8
Chromosomal Location93351843-93379725 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 93372646 bp
ZygosityHeterozygous
Amino Acid Change Leucine to Isoleucine at position 93 (L93I)
Ref Sequence ENSEMBL: ENSMUSP00000121729 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000145041]
Predicted Effect probably benign
Transcript: ENSMUST00000145041
AA Change: L93I

PolyPhen 2 Score 0.227 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000121729
Gene: ENSMUSG00000074156
AA Change: L93I

DomainStartEndE-ValueType
Pfam:COesterase 1 289 2.4e-56 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000212027
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.3%
  • 20x: 95.4%
Validation Efficiency 98% (56/57)
Allele List at MGI
Other mutations in this stock
Total: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4932415D10Rik T C 10: 82,285,368 D3936G probably damaging Het
Abca7 T A 10: 79,997,791 L30H probably damaging Het
Abcb6 T C 1: 75,172,551 probably null Het
Acsbg1 T A 9: 54,609,772 M586L probably benign Het
Ano6 A T 15: 95,913,433 Y159F probably damaging Het
C1ql1 A G 11: 102,939,749 I254T probably damaging Het
Ccdc81 T C 7: 89,882,311 D318G possibly damaging Het
Ccr7 C T 11: 99,145,663 M144I probably damaging Het
Cdca3 C T 6: 124,832,664 probably null Het
Cntfr T C 4: 41,663,216 D197G possibly damaging Het
Cyp2d12 C A 15: 82,556,658 P126T probably benign Het
Dnah10 A G 5: 124,785,184 T2225A probably damaging Het
Edrf1 A T 7: 133,667,582 N1147Y possibly damaging Het
Ermap C T 4: 119,178,550 V414M probably damaging Het
Fam13a A G 6: 58,954,257 I446T probably damaging Het
Fgfbp3 T C 19: 36,918,753 H155R possibly damaging Het
Folr1 T A 7: 101,859,535 N61I probably damaging Het
Fsip1 T C 2: 118,205,102 I431V probably benign Het
Gm5039 T C 12: 88,321,225 D86G possibly damaging Het
Gm5493 A T 17: 22,750,070 E74D probably benign Het
Gm6803 T C 12: 88,018,485 N96S probably benign Het
H2-Oa A G 17: 34,094,566 D197G probably benign Het
Hps1 T C 19: 42,769,607 E169G probably null Het
Il17rc A T 6: 113,480,347 M372L probably benign Het
Itga10 A G 3: 96,658,185 S1042G probably benign Het
Jchain A T 5: 88,521,353 V147E probably damaging Het
Laptm4b A G 15: 34,283,327 T211A probably benign Het
Mal2 T C 15: 54,571,639 probably null Het
Mov10l1 T A 15: 89,026,620 I1071N probably damaging Het
Mpp2 T A 11: 102,060,969 Y401F probably damaging Het
Myh15 A G 16: 49,145,247 T1172A probably benign Het
Olfr635 T A 7: 103,979,974 S261T probably damaging Het
Pcnx G T 12: 81,918,607 S516I probably benign Het
Pidd1 C T 7: 141,439,795 A685T probably damaging Het
Psg28 A C 7: 18,430,440 Y116D probably damaging Het
Psmd11 T C 11: 80,438,632 probably benign Het
Rapgefl1 T A 11: 98,851,120 Y637N probably damaging Het
Rbm25 T A 12: 83,644,432 M66K probably damaging Het
Rnf38 T A 4: 44,152,408 H52L probably benign Het
Rsf1 CGGCGGCGG CGGCGGCGGTGGCGGCGG 7: 97,579,923 probably benign Het
Sec62 A G 3: 30,809,836 Q89R probably damaging Het
Serpina6 T A 12: 103,648,720 Q289L probably benign Het
Sf3b2 A C 19: 5,283,650 I640S probably damaging Het
Slc13a2 CGTTATCTGT CGT 11: 78,403,480 probably benign Het
Slc26a11 T C 11: 119,359,299 F127L probably benign Het
Stac3 T A 10: 127,507,746 Y252* probably null Het
Stoml3 G A 3: 53,507,506 A240T probably damaging Het
Tanc1 A T 2: 59,843,510 H1653L probably benign Het
Tll1 A T 8: 64,051,367 L665* probably null Het
Tnr A C 1: 159,861,270 Q434P probably damaging Het
Tpgs1 C A 10: 79,675,520 D165E probably benign Het
Tsc2 A G 17: 24,600,420 V1185A probably benign Het
Tulp4 A G 17: 6,198,736 H203R probably damaging Het
Txnl4a T A 18: 80,218,765 M72K possibly damaging Het
Usp42 G A 5: 143,714,972 R1099W probably damaging Het
Zfp292 G A 4: 34,808,883 A1387V possibly damaging Het
Zfp994 A T 17: 22,199,991 L659* probably null Het
Other mutations in Ces1h
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00160:Ces1h APN 8 93357463 missense probably benign 0.03
IGL00227:Ces1h APN 8 93352470 missense unknown
IGL02343:Ces1h APN 8 93352026 makesense probably null
IGL02490:Ces1h APN 8 93356999 critical splice donor site probably null
H8786:Ces1h UTSW 8 93362922 missense probably damaging 0.99
P0012:Ces1h UTSW 8 93353510 missense unknown
R0395:Ces1h UTSW 8 93357078 missense unknown
R0538:Ces1h UTSW 8 93357000 critical splice donor site probably null
R0562:Ces1h UTSW 8 93357143 missense unknown
R0569:Ces1h UTSW 8 93352146 missense unknown
R1854:Ces1h UTSW 8 93358822 missense probably benign 0.13
R5945:Ces1h UTSW 8 93363626 missense probably benign 0.04
R5950:Ces1h UTSW 8 93362959 missense probably benign
R6015:Ces1h UTSW 8 93357063 missense unknown
R6317:Ces1h UTSW 8 93357418 missense unknown
R6647:Ces1h UTSW 8 93352026 makesense probably null
R6981:Ces1h UTSW 8 93353495 missense unknown
R7800:Ces1h UTSW 8 93379694 missense
R7861:Ces1h UTSW 8 93357425 missense unknown
R8121:Ces1h UTSW 8 93353476 missense unknown
X0027:Ces1h UTSW 8 93362878 missense probably benign 0.00
X0066:Ces1h UTSW 8 93352034 missense unknown
Z1177:Ces1h UTSW 8 93366840 critical splice acceptor site probably null
Predicted Primers PCR Primer
(F):5'- CAGTGATCTGGATGCTGGAAC -3'
(R):5'- GGCTCATAATTGCCTCATTGGG -3'

Sequencing Primer
(F):5'- CTGGATGCTGGAACTCAGGAGTC -3'
(R):5'- TGGGTATCTGATACAGTCCCAAG -3'
Posted On2018-03-15