Incidental Mutation 'R4378:Cyp4f40'
ID 325215
Institutional Source Beutler Lab
Gene Symbol Cyp4f40
Ensembl Gene ENSMUSG00000090700
Gene Name cytochrome P450, family 4, subfamily f, polypeptide 40
Synonyms EG631304
MMRRC Submission 041121-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.059) question?
Stock # R4378 (G1)
Quality Score 225
Status Validated
Chromosome 17
Chromosomal Location 32877874-32895888 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 32887003 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Serine at position 158 (N158S)
Ref Sequence ENSEMBL: ENSMUSP00000129536 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000165061]
AlphaFold G3UW81
Predicted Effect probably null
Transcript: ENSMUST00000165061
AA Change: N158S

PolyPhen 2 Score 0.435 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000129536
Gene: ENSMUSG00000090700
AA Change: N158S

DomainStartEndE-ValueType
transmembrane domain 7 29 N/A INTRINSIC
Pfam:p450 52 515 2.2e-130 PFAM
Meta Mutation Damage Score 0.1746 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.1%
  • 20x: 94.8%
Validation Efficiency 96% (47/49)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene, CYP4F11, encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This gene is part of a cluster of cytochrome P450 genes on chromosome 19. Another member of this family, CYP4F2, is approximately 16 kb away. Alternatively spliced transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 A G 11: 9,243,644 (GRCm39) K1836E probably benign Het
Adora1 A G 1: 134,130,948 (GRCm39) F241S probably damaging Het
Akt1s1 C T 7: 44,503,384 (GRCm39) T168M probably damaging Het
Amigo1 C T 3: 108,099,069 (GRCm39) probably benign Het
Amigo2 A G 15: 97,143,859 (GRCm39) F188L possibly damaging Het
Armc2 T C 10: 41,869,078 (GRCm39) T29A possibly damaging Het
Axl G A 7: 25,458,262 (GRCm39) A822V probably benign Het
Borcs5 T C 6: 134,621,292 (GRCm39) V21A probably benign Het
Cdc42ep3 A G 17: 79,642,408 (GRCm39) S171P probably benign Het
Cmas T C 6: 142,718,011 (GRCm39) probably benign Het
Dnah6 G T 6: 73,095,009 (GRCm39) N2139K probably benign Het
Elmo1 A T 13: 20,557,286 (GRCm39) H409L possibly damaging Het
Exoc1l A G 5: 76,648,380 (GRCm39) K62R probably damaging Het
Exoc4 T A 6: 33,792,622 (GRCm39) V584E probably damaging Het
Gm9116 A G 3: 93,817,786 (GRCm39) noncoding transcript Het
Gxylt2 A G 6: 100,710,161 (GRCm39) S101G probably benign Het
Hsph1 C A 5: 149,559,472 (GRCm39) E24* probably null Het
Ighv1-56 C T 12: 115,206,568 (GRCm39) E50K probably benign Het
Kirrel1 C T 3: 86,996,458 (GRCm39) M380I probably null Het
Lrriq1 A T 10: 103,038,225 (GRCm39) D859E probably damaging Het
Mapk7 G A 11: 61,384,493 (GRCm39) S71L probably damaging Het
Nars1 A G 18: 64,634,424 (GRCm39) Y500H probably damaging Het
Or1j1 T C 2: 36,702,481 (GRCm39) M208V probably benign Het
Or5d20-ps1 G T 2: 87,931,829 (GRCm39) N167K unknown Het
Phc1 T C 6: 122,311,966 (GRCm39) N64S possibly damaging Het
Ppp4r3b T A 11: 29,159,450 (GRCm39) N180K possibly damaging Het
Primpol G A 8: 47,029,218 (GRCm39) probably benign Het
Prtg T C 9: 72,750,042 (GRCm39) S149P possibly damaging Het
Qrich2 T C 11: 116,337,741 (GRCm39) S1916G probably damaging Het
Rps6ka5 A T 12: 100,564,196 (GRCm39) Y218N probably damaging Het
Setbp1 T C 18: 78,899,833 (GRCm39) D1278G possibly damaging Het
Sirt1 C T 10: 63,174,728 (GRCm39) A8T probably benign Het
Sobp C T 10: 42,897,300 (GRCm39) V762I probably damaging Het
Sptan1 T C 2: 29,915,581 (GRCm39) S1994P probably damaging Het
Taok3 T C 5: 117,347,636 (GRCm39) I87T probably damaging Het
Tecta T C 9: 42,278,004 (GRCm39) Y1168C probably damaging Het
Trhr A G 15: 44,061,023 (GRCm39) Y181C probably damaging Het
Ube4b C T 4: 149,468,255 (GRCm39) D174N probably damaging Het
Ubr4 C T 4: 139,137,751 (GRCm39) H1067Y possibly damaging Het
Vmn2r86 A G 10: 130,288,469 (GRCm39) I344T possibly damaging Het
Vmn2r88 T A 14: 51,650,746 (GRCm39) L153* probably null Het
Zfp516 T A 18: 83,005,305 (GRCm39) D736E probably benign Het
Zfp612 G T 8: 110,815,683 (GRCm39) V258F possibly damaging Het
Other mutations in Cyp4f40
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01299:Cyp4f40 APN 17 32,886,948 (GRCm39) missense probably benign 0.00
IGL01563:Cyp4f40 APN 17 32,892,930 (GRCm39) missense probably damaging 0.99
IGL01801:Cyp4f40 APN 17 32,895,279 (GRCm39) missense probably damaging 1.00
IGL01960:Cyp4f40 APN 17 32,878,535 (GRCm39) missense probably benign 0.25
IGL02387:Cyp4f40 APN 17 32,886,984 (GRCm39) missense probably damaging 1.00
IGL02631:Cyp4f40 APN 17 32,894,609 (GRCm39) splice site probably benign
IGL02967:Cyp4f40 APN 17 32,893,222 (GRCm39) missense probably damaging 1.00
R0030:Cyp4f40 UTSW 17 32,894,947 (GRCm39) missense probably damaging 1.00
R0103:Cyp4f40 UTSW 17 32,895,283 (GRCm39) nonsense probably null
R0103:Cyp4f40 UTSW 17 32,895,282 (GRCm39) missense probably damaging 1.00
R0180:Cyp4f40 UTSW 17 32,878,641 (GRCm39) missense probably benign 0.00
R1413:Cyp4f40 UTSW 17 32,892,913 (GRCm39) missense probably benign 0.35
R2882:Cyp4f40 UTSW 17 32,887,047 (GRCm39) missense probably benign 0.05
R3903:Cyp4f40 UTSW 17 32,878,598 (GRCm39) missense possibly damaging 0.51
R4465:Cyp4f40 UTSW 17 32,890,186 (GRCm39) missense probably benign 0.00
R4808:Cyp4f40 UTSW 17 32,893,249 (GRCm39) missense probably benign 0.23
R5377:Cyp4f40 UTSW 17 32,894,590 (GRCm39) missense probably null 0.61
R5395:Cyp4f40 UTSW 17 32,888,827 (GRCm39) missense probably benign 0.01
R5523:Cyp4f40 UTSW 17 32,888,796 (GRCm39) missense probably damaging 0.98
R5889:Cyp4f40 UTSW 17 32,894,731 (GRCm39) missense probably benign 0.15
R6624:Cyp4f40 UTSW 17 32,890,154 (GRCm39) missense possibly damaging 0.82
R6692:Cyp4f40 UTSW 17 32,894,716 (GRCm39) missense possibly damaging 0.48
R6859:Cyp4f40 UTSW 17 32,894,923 (GRCm39) missense probably benign 0.19
R7792:Cyp4f40 UTSW 17 32,890,143 (GRCm39) missense probably damaging 1.00
R8324:Cyp4f40 UTSW 17 32,878,502 (GRCm39) missense probably benign 0.35
R8711:Cyp4f40 UTSW 17 32,894,962 (GRCm39) critical splice donor site probably benign
R8755:Cyp4f40 UTSW 17 32,886,957 (GRCm39) nonsense probably null
R8913:Cyp4f40 UTSW 17 32,886,810 (GRCm39) missense probably benign 0.05
R9013:Cyp4f40 UTSW 17 32,890,173 (GRCm39) missense probably benign
R9548:Cyp4f40 UTSW 17 32,890,158 (GRCm39) missense probably benign 0.01
Z1088:Cyp4f40 UTSW 17 32,892,976 (GRCm39) splice site probably null
Z1177:Cyp4f40 UTSW 17 32,895,423 (GRCm39) missense probably damaging 0.98
Z1177:Cyp4f40 UTSW 17 32,890,133 (GRCm39) missense probably benign 0.04
Predicted Primers PCR Primer
(F):5'- TTGCCCCAAAGGACGACATC -3'
(R):5'- CACACATGGGGAATCAAGTCTG -3'

Sequencing Primer
(F):5'- ACAGCTTCTTGAAACCCTGG -3'
(R):5'- TCAAGTCTGGGGGAAAACTGC -3'
Posted On 2015-07-06