Incidental Mutation 'R7792:Cyp4f40'
ID 599995
Institutional Source Beutler Lab
Gene Symbol Cyp4f40
Ensembl Gene ENSMUSG00000090700
Gene Name cytochrome P450, family 4, subfamily f, polypeptide 40
Synonyms EG631304
MMRRC Submission 045848-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.059) question?
Stock # R7792 (G1)
Quality Score 225.009
Status Validated
Chromosome 17
Chromosomal Location 32877874-32895888 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 32890143 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Asparagine at position 271 (I271N)
Ref Sequence ENSEMBL: ENSMUSP00000129536 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000165061]
AlphaFold G3UW81
Predicted Effect probably damaging
Transcript: ENSMUST00000165061
AA Change: I271N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000129536
Gene: ENSMUSG00000090700
AA Change: I271N

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: 99.7%
  • 20x: 98.9%
Validation Efficiency 100% (97/97)
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: 99 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aars1 G T 8: 111,769,896 (GRCm39) V332F possibly damaging Het
Abhd15 T A 11: 77,409,560 (GRCm39) S425T probably benign Het
Acads A T 5: 115,250,840 (GRCm39) F152L probably damaging Het
Acp3 T A 9: 104,204,165 (GRCm39) H43L probably damaging Het
Adora2a A G 10: 75,169,480 (GRCm39) S315G probably benign Het
Agxt2 A T 15: 10,381,472 (GRCm39) D242V probably damaging Het
Alx4 A G 2: 93,473,056 (GRCm39) D18G probably damaging Het
Ankrd11 A G 8: 123,610,970 (GRCm39) S2639P probably damaging Het
Arhgap35 A T 7: 16,295,453 (GRCm39) V1204D possibly damaging Het
Arid2 A G 15: 96,267,256 (GRCm39) T579A probably benign Het
B4galt1 C T 4: 40,809,373 (GRCm39) G332S probably benign Het
B4galt4 C A 16: 38,578,172 (GRCm39) Y206* probably null Het
Bcl2l14 A T 6: 134,409,277 (GRCm39) T284S possibly damaging Het
Bop1 C T 15: 76,338,548 (GRCm39) V465M probably damaging Het
Cacna1b A T 2: 24,567,977 (GRCm39) L1037H probably damaging Het
Cadm2 G A 16: 66,568,523 (GRCm39) T254M probably benign Het
Ccdc180 T C 4: 45,890,389 (GRCm39) probably null Het
Ccdc7a A T 8: 129,618,918 (GRCm39) D875E possibly damaging Het
Cenpu A G 8: 47,015,502 (GRCm39) D139G possibly damaging Het
Cep57l1 A T 10: 41,598,936 (GRCm39) C292* probably null Het
Cep89 G A 7: 35,129,353 (GRCm39) R630H probably damaging Het
Chst14 A G 2: 118,758,256 (GRCm39) H350R probably benign Het
Clca3a1 T A 3: 144,455,492 (GRCm39) I434F possibly damaging Het
Crispld2 A G 8: 120,757,809 (GRCm39) T385A probably benign Het
Crmp1 A C 5: 37,441,439 (GRCm39) N507T probably damaging Het
D630003M21Rik G T 2: 158,052,082 (GRCm39) Q670K possibly damaging Het
Ddx42 T C 11: 106,127,822 (GRCm39) I342T probably damaging Het
Dnah9 T A 11: 65,740,839 (GRCm39) I4116F probably damaging Het
Ehd2 T C 7: 15,684,683 (GRCm39) H372R probably benign Het
Gja8 C A 3: 96,827,092 (GRCm39) C190F probably damaging Het
Gm8297 A T 14: 16,165,939 (GRCm39) D72V possibly damaging Het
Golgb1 A G 16: 36,739,092 (GRCm39) D2518G probably benign Het
Hsd17b12 C A 2: 93,863,986 (GRCm39) M285I probably benign Het
Hus1 T C 11: 8,950,133 (GRCm39) E196G probably damaging Het
Ift70a2 T C 2: 75,807,273 (GRCm39) N413S probably benign Het
Irf2 G A 8: 47,260,314 (GRCm39) R82Q probably damaging Het
Irx2 A G 13: 72,779,493 (GRCm39) D259G possibly damaging Het
Jph1 T A 1: 17,074,602 (GRCm39) Q472L probably benign Het
Kif2a T C 13: 107,124,490 (GRCm39) Q142R probably benign Het
Lonp1 T C 17: 56,929,515 (GRCm39) Y174C probably damaging Het
Mapk14 T C 17: 28,965,271 (GRCm39) F348L probably damaging Het
Marchf10 G T 11: 105,281,054 (GRCm39) D410E probably benign Het
Mff A T 1: 82,724,802 (GRCm39) probably null Het
Mtrex A T 13: 113,009,443 (GRCm39) D985E probably benign Het
Necab3 G A 2: 154,388,200 (GRCm39) R271C probably damaging Het
Nlrp4e T A 7: 23,021,182 (GRCm39) F556L possibly damaging Het
Nt5c2 T C 19: 46,878,385 (GRCm39) K425E probably benign Het
Ofcc1 A T 13: 40,296,302 (GRCm39) W511R probably damaging Het
Or1j18 A C 2: 36,624,342 (GRCm39) E3A probably benign Het
Or2v1 T A 11: 49,025,496 (GRCm39) I159N possibly damaging Het
Or4k77 T C 2: 111,199,748 (GRCm39) I257T probably benign Het
Or52p2 T A 7: 102,238,090 (GRCm39) probably benign Het
P2rx2 G C 5: 110,488,210 (GRCm39) A448G possibly damaging Het
Pcnx2 A T 8: 126,618,757 (GRCm39) N56K possibly damaging Het
Pdzd7 A C 19: 45,028,657 (GRCm39) M162R possibly damaging Het
Phyhd1 A G 2: 30,156,782 (GRCm39) M1V probably null Het
Plaat3 T C 19: 7,556,660 (GRCm39) C154R probably benign Het
Plekha5 A G 6: 140,534,950 (GRCm39) E1126G possibly damaging Het
Plekhm1 A T 11: 103,287,886 (GRCm39) V87D probably damaging Het
Pole G A 5: 110,445,332 (GRCm39) probably null Het
Pramel22 A G 4: 143,381,123 (GRCm39) L300P probably benign Het
R3hcc1 T C 14: 69,942,957 (GRCm39) M207V probably benign Het
R3hcc1l T A 19: 42,552,403 (GRCm39) S467T probably damaging Het
Rasgrp4 G T 7: 28,842,527 (GRCm39) R267L probably damaging Het
Rbm20 T C 19: 53,838,567 (GRCm39) I848T probably benign Het
Rims2 T C 15: 39,061,923 (GRCm39) S56P possibly damaging Het
Rmc1 G A 18: 12,314,656 (GRCm39) D289N probably damaging Het
Sacs T A 14: 61,447,222 (GRCm39) D3089E probably benign Het
Sall2 C T 14: 52,553,521 (GRCm39) G16R probably damaging Het
Scgb1b19 G A 7: 32,987,912 (GRCm39) C93Y probably damaging Het
Scn3a T A 2: 65,297,334 (GRCm39) K1442* probably null Het
Sepsecs A G 5: 52,801,391 (GRCm39) S424P probably damaging Het
Set G T 2: 29,960,323 (GRCm39) V219F probably benign Het
Sh3tc1 A T 5: 35,868,295 (GRCm39) F390I probably damaging Het
Simc1 G A 13: 54,695,143 (GRCm39) V1269M probably damaging Het
Ska3 T G 14: 58,047,512 (GRCm39) D341A probably damaging Het
Slc16a10 A T 10: 39,913,411 (GRCm39) probably null Het
Srgap1 T A 10: 121,761,872 (GRCm39) N92I probably damaging Het
Sspo T C 6: 48,431,624 (GRCm39) V639A probably damaging Het
Stk11 A T 10: 79,961,271 (GRCm39) probably benign Het
Sult5a1 G A 8: 123,872,180 (GRCm39) H221Y probably benign Het
Sytl3 T A 17: 7,003,977 (GRCm39) M559K probably benign Het
Tab2 A C 10: 7,794,897 (GRCm39) D528E possibly damaging Het
Tbc1d15 A G 10: 115,057,492 (GRCm39) I218T possibly damaging Het
Tenm4 T A 7: 96,423,221 (GRCm39) M672K possibly damaging Het
Tent4b A T 8: 88,979,182 (GRCm39) Q561L probably benign Het
Tfrc A G 16: 32,437,985 (GRCm39) K346R probably benign Het
Thsd1 G T 8: 22,733,114 (GRCm39) G54W probably damaging Het
Tmprss15 A T 16: 78,800,275 (GRCm39) L618I probably damaging Het
Top3a T C 11: 60,633,790 (GRCm39) S769G probably benign Het
Trp63 C A 16: 25,686,974 (GRCm39) P396Q possibly damaging Het
Uggt1 T C 1: 36,247,065 (GRCm39) S311G probably damaging Het
Usp10 G A 8: 120,678,740 (GRCm39) E574K possibly damaging Het
Wfdc6b T A 2: 164,459,822 (GRCm39) I148K probably damaging Het
Zcchc2 T G 1: 105,945,982 (GRCm39) I474R probably damaging Het
Zdhhc2 A G 8: 40,900,182 (GRCm39) K82R probably benign Het
Zfp273 A G 13: 67,974,135 (GRCm39) D421G possibly damaging Het
Zfp280d T C 9: 72,238,601 (GRCm39) I639T probably damaging Het
Zfp429 A T 13: 67,538,558 (GRCm39) C295* probably null 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
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'- ATTGTGCAGGAAGCCTAGCC -3'
(R):5'- TGAAGATGAGCCTGGCAAC -3'

Sequencing Primer
(F):5'- GAAGCCTAGCCAGTATATTGCTGC -3'
(R):5'- CCTGGTCTACAGTGAGACTCTG -3'
Posted On 2019-11-26