Incidental Mutation 'R6610:Ces2f'
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ID525896
Institutional Source Beutler Lab
Gene Symbol Ces2f
Ensembl Gene ENSMUSG00000062826
Gene Namecarboxylesterase 2F
Synonyms2310038E17Rik
MMRRC Submission
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #R6610 (G1)
Quality Score225.009
Status Validated
Chromosome8
Chromosomal Location104947356-104960047 bp(+) (GRCm38)
Type of Mutationcritical splice donor site (2 bp from exon)
DNA Base Change (assembly) T to G at 104950106 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000148840 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000076384] [ENSMUST00000212820] [ENSMUST00000212926]
Predicted Effect probably null
Transcript: ENSMUST00000076384
SMART Domains Protein: ENSMUSP00000075722
Gene: ENSMUSG00000062826

DomainStartEndE-ValueType
Pfam:COesterase 12 540 2.7e-167 PFAM
Pfam:Abhydrolase_3 145 261 1.2e-8 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000212820
Predicted Effect probably null
Transcript: ENSMUST00000212926
Meta Mutation Damage Score 0.9361 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 97.9%
  • 20x: 93.8%
Validation Efficiency 100% (42/42)
MGI Phenotype PHENOTYPE: Mice homozygous for an ENU-induced mutation exhibit epidermal and follicular hyperkeratosis. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
AB124611 A T 9: 21,526,265 M1L probably benign Het
Adam26b T C 8: 43,521,153 K271E probably damaging Het
Ankrd44 A G 1: 54,655,087 I914T probably benign Het
Atp12a A G 14: 56,374,556 R396G probably damaging Het
C2cd3 A G 7: 100,455,298 K2173E probably benign Het
Cbx2 A G 11: 119,024,210 D51G probably damaging Het
Ccdc33 T A 9: 58,069,136 T532S possibly damaging Het
Ccnt1 T C 15: 98,565,101 I63M probably damaging Het
Cdc20b C T 13: 113,064,262 T172I probably benign Het
Cfh A T 1: 140,101,748 C597* probably null Het
Cntnap2 A T 6: 46,015,257 T373S probably benign Het
Cyb5r4 T G 9: 87,059,417 C64G probably benign Het
Cyp2c23 A G 19: 44,007,081 F416L probably damaging Het
Dnah8 G A 17: 30,748,568 D2585N probably benign Het
Eif4e1b A G 13: 54,784,315 probably benign Het
Etl4 G A 2: 20,713,369 R256K probably damaging Het
Fhad1 A G 4: 141,916,396 L1054P possibly damaging Het
Fopnl TTGTG TTG 16: 14,300,145 probably null Het
Grik1 A G 16: 88,034,312 I190T probably damaging Het
Gsdmc2 T C 15: 63,825,008 N438S probably benign Het
Igkv15-103 A T 6: 68,437,633 R19* probably null Het
Ikbkap A G 4: 56,758,236 V1227A probably benign Het
Kcnc2 G C 10: 112,271,856 G51R probably benign Het
Lhcgr A T 17: 88,769,879 I93K possibly damaging Het
Muc6 G C 7: 141,640,433 probably benign Het
Mymk G T 2: 27,067,393 S29R possibly damaging Het
Nab2 A T 10: 127,664,338 I295N probably damaging Het
Neu2 A T 1: 87,596,685 T131S probably benign Het
Pdcd7 T A 9: 65,354,683 M129K possibly damaging Het
Ptar1 A G 19: 23,717,844 H225R probably benign Het
Pygb T A 2: 150,823,966 probably null Het
Rpap3 T C 15: 97,688,168 D314G probably benign Het
Scara3 A G 14: 65,931,221 S316P probably damaging Het
Sec24a C T 11: 51,696,656 V1051I probably benign Het
Setdb1 G T 3: 95,328,577 A841D probably damaging Het
Stk32b G A 5: 37,448,678 T407I probably benign Het
Tcte2 G A 17: 13,727,988 Q10* probably null Het
Tgm2 C A 2: 158,143,100 E29* probably null Het
Trim32 G A 4: 65,615,071 V622M probably damaging Het
Ttn G A 2: 76,749,329 T23740M probably damaging Het
Tyk2 G T 9: 21,108,016 Q1014K probably benign Het
Vmn1r123 A G 7: 21,162,590 N136D probably benign Het
Vmn2r31 A T 7: 7,384,589 V661E probably damaging Het
Vmn2r85 A T 10: 130,425,969 F166L probably damaging Het
Zfp426 T C 9: 20,473,093 K98R probably damaging Het
Zfp534 C T 4: 147,674,490 R574K probably benign Het
Other mutations in Ces2f
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00160:Ces2f APN 8 104949973 missense probably damaging 1.00
IGL00160:Ces2f APN 8 104949972 missense probably damaging 1.00
IGL01680:Ces2f APN 8 104954073 missense probably benign 0.10
IGL01683:Ces2f APN 8 104953101 missense probably benign 0.39
IGL02685:Ces2f APN 8 104953098 nonsense probably null
R0545:Ces2f UTSW 8 104950036 missense possibly damaging 0.66
R0707:Ces2f UTSW 8 104950986 missense possibly damaging 0.88
R1170:Ces2f UTSW 8 104953546 missense probably damaging 0.99
R1476:Ces2f UTSW 8 104952502 missense possibly damaging 0.60
R4105:Ces2f UTSW 8 104951192 splice site probably null
R4394:Ces2f UTSW 8 104950954 missense probably damaging 1.00
R4436:Ces2f UTSW 8 104953156 missense probably benign 0.00
R4601:Ces2f UTSW 8 104949964 missense probably damaging 1.00
R4986:Ces2f UTSW 8 104952025 missense probably benign 0.39
R5502:Ces2f UTSW 8 104952523 missense possibly damaging 0.60
R7078:Ces2f UTSW 8 104954652 missense probably damaging 0.98
R7357:Ces2f UTSW 8 104949963 missense probably benign 0.03
R7480:Ces2f UTSW 8 104954706 missense possibly damaging 0.49
R7497:Ces2f UTSW 8 104954698 missense probably benign 0.00
Z1177:Ces2f UTSW 8 104948235 missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- GGTTTGGATCACTAAACATTCCTTC -3'
(R):5'- TCTAGGGCTCAAGTTTGTAGC -3'

Sequencing Primer
(F):5'- GGATCACTAAACATTCCTTCATTCC -3'
(R):5'- AGCGTGTGTCCTTAGTTAATCC -3'
Posted On2018-06-22