Incidental Mutation 'R8755:Cyp4f40'
ID 664138
Institutional Source Beutler Lab
Gene Symbol Cyp4f40
Ensembl Gene ENSMUSG00000090700
Gene Name cytochrome P450, family 4, subfamily f, polypeptide 40
Synonyms EG631304
MMRRC Submission 068596-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.059) question?
Stock # R8755 (G1)
Quality Score 225.009
Status Not validated
Chromosome 17
Chromosomal Location 32877874-32895888 bp(+) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) A to T at 32886957 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Stop codon at position 143 (K143*)
Ref Sequence ENSEMBL: ENSMUSP00000129536 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000165061]
AlphaFold G3UW81
Predicted Effect probably null
Transcript: ENSMUST00000165061
AA Change: K143*
SMART Domains Protein: ENSMUSP00000129536
Gene: ENSMUSG00000090700
AA Change: K143*

DomainStartEndE-ValueType
transmembrane domain 7 29 N/A INTRINSIC
Pfam:p450 52 515 2.2e-130 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.4%
  • 20x: 98.0%
Validation Efficiency
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: 68 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aaas A C 15: 102,255,520 (GRCm39) D86E probably benign Het
Akap3 A G 6: 126,843,130 (GRCm39) D583G possibly damaging Het
Alms1 T A 6: 85,598,556 (GRCm39) D1127E probably benign Het
Anks4b T A 7: 119,773,307 (GRCm39) probably null Het
Ano8 A T 8: 71,935,724 (GRCm39) F298Y probably benign Het
Arhgef2 C A 3: 88,536,850 (GRCm39) Q7K probably benign Het
Brd10 T C 19: 29,693,890 (GRCm39) I1868V probably benign Het
Cand2 T C 6: 115,769,941 (GRCm39) L917P probably damaging Het
Car8 T C 4: 8,238,083 (GRCm39) D44G probably benign Het
Cdk1 T C 10: 69,176,435 (GRCm39) N224S probably benign Het
Cep162 T C 9: 87,114,064 (GRCm39) E336G probably benign Het
Chd7 T C 4: 8,866,069 (GRCm39) M2792T probably benign Het
Cyth1 T A 11: 118,074,768 (GRCm39) M178L probably benign Het
Dcaf11 C T 14: 55,798,023 (GRCm39) probably benign Het
Dlec1 T G 9: 118,967,225 (GRCm39) W1203G probably damaging Het
Fgd4 A T 16: 16,302,133 (GRCm39) S141T probably benign Het
Firrm A G 1: 163,786,895 (GRCm39) S725P probably damaging Het
Flg2 T A 3: 93,108,120 (GRCm39) D49E probably damaging Het
Fyb2 T A 4: 104,861,086 (GRCm39) D647E unknown Het
Gstp1 T C 19: 4,086,698 (GRCm39) Y109C probably damaging Het
Gtf3c3 T C 1: 54,468,031 (GRCm39) E202G probably benign Het
Hephl1 A G 9: 14,985,563 (GRCm39) F698L probably benign Het
Hephl1 G T 9: 15,023,280 (GRCm39) P41T probably damaging Het
Hmcn1 T A 1: 150,509,371 (GRCm39) E3659V probably benign Het
Il27ra A T 8: 84,765,988 (GRCm39) D229E probably damaging Het
Itih2 T A 2: 10,103,369 (GRCm39) D706V probably damaging Het
Itpr2 A T 6: 146,133,926 (GRCm39) C1893S probably benign Het
Lama5 T C 2: 179,832,714 (GRCm39) N1646S probably benign Het
Laptm4b A G 15: 34,273,420 (GRCm39) D111G probably damaging Het
Ldb3 T A 14: 34,299,256 (GRCm39) S123C probably damaging Het
Lgals12 C T 19: 7,581,345 (GRCm39) E121K possibly damaging Het
Mmp13 T A 9: 7,277,996 (GRCm39) S296R possibly damaging Het
Mpeg1 T C 19: 12,439,238 (GRCm39) F232S probably damaging Het
Ncapd2 A T 6: 125,148,817 (GRCm39) C990S possibly damaging Het
Nckap5 A T 1: 125,954,279 (GRCm39) C758S possibly damaging Het
Nwd1 A T 8: 73,394,192 (GRCm39) D485V probably damaging Het
Or13a21 T G 7: 139,999,417 (GRCm39) S90R probably benign Het
Or6c2 T C 10: 129,362,332 (GRCm39) F79L possibly damaging Het
Or8g50 T A 9: 39,648,786 (GRCm39) I225N probably damaging Het
Pcgf3 G A 5: 108,634,108 (GRCm39) R122Q probably benign Het
Pgm5 T A 19: 24,812,212 (GRCm39) I107F probably damaging Het
Pid1 G T 1: 84,016,066 (GRCm39) H114N probably damaging Het
Pkdrej T C 15: 85,703,807 (GRCm39) T710A probably benign Het
Plpbp T A 8: 27,535,165 (GRCm39) probably null Het
Ppfibp2 T G 7: 107,343,432 (GRCm39) F824V probably damaging Het
Ppp1r16b G A 2: 158,593,098 (GRCm39) D226N probably damaging Het
Psg17 T A 7: 18,550,836 (GRCm39) T340S possibly damaging Het
Pstpip2 T C 18: 77,961,133 (GRCm39) S239P probably damaging Het
Ralbp1 A C 17: 66,166,036 (GRCm39) S383A possibly damaging Het
Ranbp2 T A 10: 58,300,969 (GRCm39) L613* probably null Het
Rgs11 T C 17: 26,422,346 (GRCm39) V49A probably damaging Het
Ryr1 C T 7: 28,791,693 (GRCm39) V1404I probably benign Het
Secisbp2 G A 13: 51,833,869 (GRCm39) V670I possibly damaging Het
Slc22a13 T A 9: 119,038,126 (GRCm39) M1L probably damaging Het
Slc5a1 A T 5: 33,316,526 (GRCm39) I591L probably benign Het
Tacr2 T A 10: 62,088,733 (GRCm39) V46E possibly damaging Het
Tet2 C T 3: 133,194,039 (GRCm39) G132S probably damaging Het
Thsd7a G A 6: 12,408,851 (GRCm39) R724* probably null Het
Tmco3 A T 8: 13,341,782 (GRCm39) I19L probably benign Het
Tnfrsf1a T A 6: 125,334,768 (GRCm39) L14Q probably benign Het
Tpm1 A T 9: 66,935,371 (GRCm39) L248Q probably benign Het
Tprn T A 2: 25,154,027 (GRCm39) I443N probably benign Het
Unc80 A T 1: 66,651,290 (GRCm39) H1545L possibly damaging Het
Vmn2r97 T A 17: 19,168,104 (GRCm39) M786K probably damaging Het
Wipi1 C T 11: 109,494,645 (GRCm39) V63M probably damaging Het
Zcchc4 G A 5: 52,976,724 (GRCm39) R506H unknown Het
Zfand6 A T 7: 84,281,899 (GRCm39) V110E probably benign Het
Zfp866 A T 8: 70,219,381 (GRCm39) Y80N 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
R4378:Cyp4f40 UTSW 17 32,887,003 (GRCm39) missense probably null 0.44
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
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'- CCATTGGTCCCTGATGACTC -3'
(R):5'- CCATGATCCTTCAGAGCCAG -3'

Sequencing Primer
(F):5'- GATGACTCTTTTTCATGTCAGCTG -3'
(R):5'- CTTCAGAGCCAGTACTGTGGACTAG -3'
Posted On 2021-03-08