Incidental Mutation 'R5165:Nceh1'
ID 395637
Institutional Source Beutler Lab
Gene Symbol Nceh1
Ensembl Gene ENSMUSG00000027698
Gene Name neutral cholesterol ester hydrolase 1
Synonyms mKIAA1363, CPO-BP, Aadacl1, B230106I24Rik
MMRRC Submission 042746-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.075) question?
Stock # R5165 (G1)
Quality Score 225
Status Validated
Chromosome 3
Chromosomal Location 27237153-27299112 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 27295677 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Isoleucine at position 313 (V313I)
Ref Sequence ENSEMBL: ENSMUSP00000045864 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000046515] [ENSMUST00000091284]
AlphaFold Q8BLF1
Predicted Effect probably benign
Transcript: ENSMUST00000046515
AA Change: V313I

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000045864
Gene: ENSMUSG00000027698
AA Change: V313I

DomainStartEndE-ValueType
transmembrane domain 5 27 N/A INTRINSIC
Pfam:Abhydrolase_3 109 290 6.6e-36 PFAM
Pfam:Abhydrolase_3 294 382 3.6e-16 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000091284
SMART Domains Protein: ENSMUSP00000088829
Gene: ENSMUSG00000027698

DomainStartEndE-ValueType
transmembrane domain 5 27 N/A INTRINSIC
Pfam:Abhydrolase_3 109 152 6.5e-9 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000140872
Meta Mutation Damage Score 0.0619 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.9%
  • 20x: 94.3%
Validation Efficiency 98% (58/59)
MGI Phenotype PHENOTYPE: Mice homozygous for a knock-out allele exhibit abnormal organophosphorus metabolism and cholesterol homeostasis. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Actg2 T A 6: 83,503,814 (GRCm39) I77F probably benign Het
Actl6a G A 3: 32,774,357 (GRCm39) V285I probably benign Het
Adam9 A T 8: 25,457,190 (GRCm39) I646N possibly damaging Het
Ahnak T C 19: 8,993,029 (GRCm39) I4771T possibly damaging Het
Alas1 T C 9: 106,118,454 (GRCm39) T223A probably damaging Het
Apc2 A G 10: 80,151,684 (GRCm39) E2246G probably damaging Het
Atp1a1 A G 3: 101,489,105 (GRCm39) I795T probably benign Het
Ccn3 A G 15: 54,612,585 (GRCm39) D198G probably damaging Het
Cdhr4 T C 9: 107,874,829 (GRCm39) L633P probably damaging Het
Cep350 A G 1: 155,804,114 (GRCm39) S990P probably damaging Het
Cplx2 A G 13: 54,526,789 (GRCm39) I66V possibly damaging Het
Cx3cl1 T C 8: 95,506,504 (GRCm39) S170P probably benign Het
Cyth1 T C 11: 118,059,908 (GRCm39) N353S possibly damaging Het
Dapp1 T C 3: 137,644,976 (GRCm39) probably null Het
Dmwd G A 7: 18,811,960 (GRCm39) probably benign Het
Dsg1c A G 18: 20,410,080 (GRCm39) H516R probably damaging Het
Efemp2 T C 19: 5,525,439 (GRCm39) C39R probably damaging Het
Fnbp4 C G 2: 90,608,001 (GRCm39) Q908E possibly damaging Het
Foxred2 A G 15: 77,840,212 (GRCm39) V26A probably damaging Het
Gkap1 A G 13: 58,411,010 (GRCm39) probably null Het
Gstcd A C 3: 132,790,440 (GRCm39) V109G probably damaging Het
Hoxc9 T A 15: 102,892,432 (GRCm39) M215K probably damaging Het
Igkv4-80 A C 6: 68,993,649 (GRCm39) S81A probably benign Het
Kcnj9 A T 1: 172,150,724 (GRCm39) D296E probably benign Het
Kctd18 T C 1: 57,998,395 (GRCm39) Y68C probably damaging Het
Kif21a A T 15: 90,840,579 (GRCm39) M1179K probably benign Het
Lrfn5 T C 12: 61,886,410 (GRCm39) I66T possibly damaging Het
Lrp12 A G 15: 39,735,857 (GRCm39) S692P probably benign Het
Lrrc10 A T 10: 116,881,965 (GRCm39) N213I probably benign Het
Nkx6-3 T A 8: 23,643,759 (GRCm39) H53Q probably damaging Het
Ntmt2 A G 1: 163,550,092 (GRCm39) I53T probably benign Het
Or14j7 A G 17: 38,235,252 (GRCm39) D265G probably benign Het
Or2y16 A G 11: 49,335,203 (GRCm39) H175R probably damaging Het
Or4f53 T A 2: 111,087,568 (GRCm39) V36E possibly damaging Het
Or5b97 A T 19: 12,878,564 (GRCm39) N193K probably benign Het
Oxct1 A T 15: 4,083,251 (GRCm39) T157S possibly damaging Het
Pcdhga3 A G 18: 37,808,723 (GRCm39) E392G possibly damaging Het
Polr1a T G 6: 71,944,909 (GRCm39) Y1322D probably damaging Het
Prkdc T A 16: 15,496,136 (GRCm39) S776T probably damaging Het
Ralgapb A G 2: 158,307,832 (GRCm39) I1047V possibly damaging Het
Sertad4 A T 1: 192,529,130 (GRCm39) S229T possibly damaging Het
Shank2 T A 7: 143,963,373 (GRCm39) V327D possibly damaging Het
Skint6 A T 4: 112,722,865 (GRCm39) V904E possibly damaging Het
Slfn8 A T 11: 82,907,953 (GRCm39) Y197N probably damaging Het
Smo T A 6: 29,736,077 (GRCm39) L23Q unknown Het
Snx29 T A 16: 11,238,639 (GRCm39) M23K probably damaging Het
Synrg T C 11: 83,881,761 (GRCm39) S366P probably benign Het
Tomm40 A G 7: 19,447,592 (GRCm39) probably null Het
Tpcn1 T C 5: 120,696,010 (GRCm39) E81G probably damaging Het
Trappc1 A G 11: 69,215,060 (GRCm39) Q26R probably benign Het
Ttn T A 2: 76,606,900 (GRCm39) probably null Het
Usp25 T A 16: 76,873,293 (GRCm39) D450E possibly damaging Het
Zmynd19 T A 2: 24,848,201 (GRCm39) Y132* probably null Het
Other mutations in Nceh1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00863:Nceh1 APN 3 27,295,462 (GRCm39) missense probably damaging 1.00
IGL02113:Nceh1 APN 3 27,277,040 (GRCm39) missense probably damaging 1.00
cerdo UTSW 3 27,295,420 (GRCm39) nonsense probably null
BB006:Nceh1 UTSW 3 27,333,396 (GRCm39) missense probably benign 0.00
BB016:Nceh1 UTSW 3 27,333,396 (GRCm39) missense probably benign 0.00
R0281:Nceh1 UTSW 3 27,276,953 (GRCm39) missense possibly damaging 0.64
R0854:Nceh1 UTSW 3 27,295,468 (GRCm39) missense probably damaging 1.00
R1562:Nceh1 UTSW 3 27,293,701 (GRCm39) missense probably damaging 1.00
R1689:Nceh1 UTSW 3 27,280,231 (GRCm39) missense probably damaging 0.99
R1918:Nceh1 UTSW 3 27,237,324 (GRCm39) missense probably damaging 1.00
R2851:Nceh1 UTSW 3 27,295,504 (GRCm39) missense probably damaging 1.00
R3959:Nceh1 UTSW 3 27,333,345 (GRCm39) missense probably benign 0.01
R4420:Nceh1 UTSW 3 27,295,798 (GRCm39) missense probably damaging 1.00
R4686:Nceh1 UTSW 3 27,295,818 (GRCm39) missense probably damaging 1.00
R5243:Nceh1 UTSW 3 27,295,837 (GRCm39) missense probably damaging 1.00
R5255:Nceh1 UTSW 3 27,237,288 (GRCm39) missense probably damaging 0.96
R5598:Nceh1 UTSW 3 27,280,248 (GRCm39) missense probably benign 0.01
R6076:Nceh1 UTSW 3 27,333,344 (GRCm39) missense probably benign 0.00
R6337:Nceh1 UTSW 3 27,276,956 (GRCm39) missense probably damaging 0.96
R6729:Nceh1 UTSW 3 27,295,420 (GRCm39) nonsense probably null
R6744:Nceh1 UTSW 3 27,295,938 (GRCm39) missense probably damaging 1.00
R7618:Nceh1 UTSW 3 27,237,366 (GRCm39) critical splice donor site probably null
R7749:Nceh1 UTSW 3 27,261,531 (GRCm39) missense probably benign
R7929:Nceh1 UTSW 3 27,333,396 (GRCm39) missense probably benign 0.00
R8040:Nceh1 UTSW 3 27,295,374 (GRCm39) missense probably benign 0.00
R8350:Nceh1 UTSW 3 27,293,813 (GRCm39) missense probably damaging 0.99
R8450:Nceh1 UTSW 3 27,293,813 (GRCm39) missense probably damaging 0.99
R8969:Nceh1 UTSW 3 27,276,885 (GRCm39) missense probably null 0.00
R9004:Nceh1 UTSW 3 27,293,726 (GRCm39) missense possibly damaging 0.81
R9202:Nceh1 UTSW 3 27,333,428 (GRCm39) missense probably benign 0.00
R9242:Nceh1 UTSW 3 27,293,777 (GRCm39) nonsense probably null
Predicted Primers PCR Primer
(F):5'- CCGCGTCATGTCATGGTTAG -3'
(R):5'- AAGCCGTCCTCAAAGTGGTC -3'

Sequencing Primer
(F):5'- CTGGTTAGACTACTTCAAGGGCAAC -3'
(R):5'- CAAAGTGGTCCAAGGTCACGTTC -3'
Posted On 2016-06-21