Incidental Mutation 'R3416:Cyp4f39'
ID 266816
Institutional Source Beutler Lab
Gene Symbol Cyp4f39
Ensembl Gene ENSMUSG00000061126
Gene Name cytochrome P450, family 4, subfamily f, polypeptide 39
Synonyms 4732474A20Rik
MMRRC Submission 040634-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.340) question?
Stock # R3416 (G1)
Quality Score 222
Status Validated
Chromosome 17
Chromosomal Location 32671697-32712294 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 32708716 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 421 (V421A)
Ref Sequence ENSEMBL: ENSMUSP00000003413 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000003413]
AlphaFold Q8BGU0
Predicted Effect possibly damaging
Transcript: ENSMUST00000003413
AA Change: V421A

PolyPhen 2 Score 0.717 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000003413
Gene: ENSMUSG00000061126
AA Change: V421A

DomainStartEndE-ValueType
transmembrane domain 18 40 N/A INTRINSIC
Pfam:p450 60 525 5.8e-124 PFAM
Meta Mutation Damage Score 0.1795 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 97.2%
  • 20x: 94.7%
Validation Efficiency 100% (33/33)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene 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 and encodes an enzyme thought to play a role in the 12(R)-lipoxygenase pathway. Mutations in this gene are the cause of ichthyosis lamellar type 3. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1500009L16Rik T C 10: 83,595,496 (GRCm39) probably null Het
Abi1 T C 2: 22,930,014 (GRCm39) S22G probably damaging Het
Adgrl2 T C 3: 148,564,965 (GRCm39) Y201C probably damaging Het
Adnp2 T C 18: 80,171,373 (GRCm39) E1012G possibly damaging Het
Azin1 A T 15: 38,493,790 (GRCm39) S278T possibly damaging Het
Crocc G A 4: 140,773,758 (GRCm39) T103I possibly damaging Het
Cyb561d2 A G 9: 107,417,325 (GRCm39) L142P probably damaging Het
Fryl T C 5: 73,265,417 (GRCm39) Q510R possibly damaging Het
Gfra1 T C 19: 58,255,544 (GRCm39) Y301C probably damaging Het
Igsf9b G A 9: 27,220,774 (GRCm39) V47I possibly damaging Het
Klhl42 G A 6: 147,009,378 (GRCm39) V406M probably damaging Het
Mfsd13a C T 19: 46,360,431 (GRCm39) R328C probably damaging Het
Mycs C T X: 5,380,810 (GRCm39) S90N possibly damaging Het
Or5p80 G A 7: 108,229,225 (GRCm39) V9I possibly damaging Het
Pcdha8 A T 18: 37,125,683 (GRCm39) Q55L probably benign Het
Pkhd1l1 A G 15: 44,410,760 (GRCm39) T2756A probably damaging Het
Prl8a8 A T 13: 27,695,532 (GRCm39) C71S probably damaging Het
Ralgapa1 T A 12: 55,817,398 (GRCm39) probably benign Het
Rtl4 C T X: 143,902,901 (GRCm39) Q108* probably null Het
Scn4a A T 11: 106,221,239 (GRCm39) S807T probably benign Het
Sla2 G A 2: 156,717,862 (GRCm39) R137C probably damaging Het
Smg1 G C 7: 117,748,076 (GRCm39) probably benign Het
Spata1 A T 3: 146,193,263 (GRCm39) probably benign Het
Strbp C G 2: 37,480,737 (GRCm39) R610T possibly damaging Het
Susd5 A G 9: 113,924,726 (GRCm39) D203G possibly damaging Het
Tas2r124 A T 6: 132,732,601 (GRCm39) R303S probably benign Het
Tgm3 G A 2: 129,889,692 (GRCm39) V629M possibly damaging Het
Tha1 T C 11: 117,764,026 (GRCm39) D67G possibly damaging Het
Vmn2r120 T A 17: 57,816,241 (GRCm39) I705F possibly damaging Het
Vrk3 C T 7: 44,424,866 (GRCm39) T427M probably benign Het
Zan T A 5: 137,433,982 (GRCm39) E2250D unknown Het
Zfp560 A T 9: 20,258,974 (GRCm39) Y629* probably null Het
Zftraf1 A T 15: 76,542,915 (GRCm39) probably null Het
Other mutations in Cyp4f39
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00789:Cyp4f39 APN 17 32,689,886 (GRCm39) missense probably damaging 1.00
IGL00822:Cyp4f39 APN 17 32,689,806 (GRCm39) missense probably benign 0.03
IGL00857:Cyp4f39 APN 17 32,708,631 (GRCm39) missense probably benign 0.08
IGL01380:Cyp4f39 APN 17 32,700,832 (GRCm39) missense probably damaging 1.00
IGL01532:Cyp4f39 APN 17 32,689,928 (GRCm39) splice site probably benign
IGL01756:Cyp4f39 APN 17 32,702,415 (GRCm39) nonsense probably null
IGL02090:Cyp4f39 APN 17 32,689,932 (GRCm39) splice site probably benign
IGL02477:Cyp4f39 APN 17 32,708,619 (GRCm39) missense probably benign 0.40
IGL02824:Cyp4f39 APN 17 32,687,659 (GRCm39) critical splice donor site probably null
N/A:Cyp4f39 UTSW 17 32,687,655 (GRCm39) missense probably benign 0.03
R0145:Cyp4f39 UTSW 17 32,705,934 (GRCm39) missense possibly damaging 0.92
R0288:Cyp4f39 UTSW 17 32,711,410 (GRCm39) missense probably benign 0.01
R1676:Cyp4f39 UTSW 17 32,701,176 (GRCm39) missense probably benign 0.41
R1677:Cyp4f39 UTSW 17 32,711,304 (GRCm39) missense probably benign 0.30
R1874:Cyp4f39 UTSW 17 32,702,298 (GRCm39) missense probably damaging 1.00
R1920:Cyp4f39 UTSW 17 32,702,265 (GRCm39) missense probably benign 0.00
R2049:Cyp4f39 UTSW 17 32,701,112 (GRCm39) missense probably benign 0.41
R2139:Cyp4f39 UTSW 17 32,710,163 (GRCm39) missense probably benign 0.01
R2212:Cyp4f39 UTSW 17 32,706,037 (GRCm39) missense possibly damaging 0.62
R3417:Cyp4f39 UTSW 17 32,708,716 (GRCm39) missense possibly damaging 0.72
R4486:Cyp4f39 UTSW 17 32,702,428 (GRCm39) missense probably damaging 1.00
R5023:Cyp4f39 UTSW 17 32,700,078 (GRCm39) missense probably damaging 1.00
R5523:Cyp4f39 UTSW 17 32,689,807 (GRCm39) missense probably benign 0.10
R5714:Cyp4f39 UTSW 17 32,700,799 (GRCm39) missense probably damaging 1.00
R6010:Cyp4f39 UTSW 17 32,701,160 (GRCm39) missense probably damaging 0.99
R6312:Cyp4f39 UTSW 17 32,702,268 (GRCm39) missense probably benign 0.00
R6477:Cyp4f39 UTSW 17 32,700,791 (GRCm39) missense probably damaging 0.99
R6950:Cyp4f39 UTSW 17 32,711,280 (GRCm39) missense probably damaging 1.00
R7228:Cyp4f39 UTSW 17 32,710,803 (GRCm39) missense probably damaging 1.00
R7311:Cyp4f39 UTSW 17 32,708,629 (GRCm39) missense probably damaging 1.00
R7341:Cyp4f39 UTSW 17 32,705,928 (GRCm39) missense probably damaging 1.00
R7345:Cyp4f39 UTSW 17 32,705,753 (GRCm39) missense probably damaging 1.00
R7405:Cyp4f39 UTSW 17 32,700,789 (GRCm39) missense probably benign 0.01
R7522:Cyp4f39 UTSW 17 32,705,946 (GRCm39) missense probably damaging 1.00
R7842:Cyp4f39 UTSW 17 32,702,291 (GRCm39) missense probably benign 0.01
R8223:Cyp4f39 UTSW 17 32,689,839 (GRCm39) missense probably benign 0.10
R8315:Cyp4f39 UTSW 17 32,701,176 (GRCm39) missense probably benign 0.41
R8469:Cyp4f39 UTSW 17 32,711,340 (GRCm39) missense probably damaging 1.00
R8789:Cyp4f39 UTSW 17 32,710,848 (GRCm39) missense probably damaging 1.00
R8865:Cyp4f39 UTSW 17 32,702,271 (GRCm39) missense probably damaging 1.00
R9049:Cyp4f39 UTSW 17 32,705,965 (GRCm39) missense probably damaging 0.99
R9115:Cyp4f39 UTSW 17 32,711,296 (GRCm39) missense probably damaging 1.00
R9402:Cyp4f39 UTSW 17 32,710,183 (GRCm39) critical splice donor site probably null
R9571:Cyp4f39 UTSW 17 32,702,196 (GRCm39) missense probably damaging 1.00
R9600:Cyp4f39 UTSW 17 32,705,920 (GRCm39) missense probably damaging 1.00
R9641:Cyp4f39 UTSW 17 32,705,982 (GRCm39) missense probably damaging 0.99
Predicted Primers PCR Primer
(F):5'- TGATTGGTGGATGGACAGATAGT -3'
(R):5'- TGTGCATATCTAGGTTTCCCTC -3'

Sequencing Primer
(F):5'- CCAATTGGACTGTCACTGAGC -3'
(R):5'- TCAGAAGTGAGTGTCAGATTCCC -3'
Posted On 2015-02-18