Incidental Mutation 'R7334:Cyp26c1'
ID 569405
Institutional Source Beutler Lab
Gene Symbol Cyp26c1
Ensembl Gene ENSMUSG00000062432
Gene Name cytochrome P450, family 26, subfamily c, polypeptide 1
Synonyms EG546726
MMRRC Submission 045371-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7334 (G1)
Quality Score 225.009
Status Validated
Chromosome 19
Chromosomal Location 37685581-37693398 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) G to A at 37688875 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Valine to Isoleucine at position 251 (V251I)
Ref Sequence ENSEMBL: ENSMUSP00000073105 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000073391]
AlphaFold B2RXA7
Predicted Effect probably benign
Transcript: ENSMUST00000073391
AA Change: V251I

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000073105
Gene: ENSMUSG00000062432
AA Change: V251I

transmembrane domain 7 29 N/A INTRINSIC
Pfam:p450 50 499 6.4e-54 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency 99% (75/76)
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 enzyme is involved in the catabolism of all-trans- and 9-cis-retinoic acid, and thus contributes to the regulation of retinoic acid levels in cells and tissues. This gene is adjacent to a related gene on chromosome 10q23.33. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele are viable and exhibit normal CNS development with no apparent anatomical defects. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 74 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aadacl2fm3 T A 3: 59,868,959 (GRCm38) C184S probably damaging Het
Acadm G T 3: 153,939,061 (GRCm38) S9* probably null Het
Acot10 C T 15: 20,665,543 (GRCm38) V371I possibly damaging Het
Adam8 T C 7: 139,988,990 (GRCm38) E199G probably damaging Het
Aldh18a1 A T 19: 40,551,252 (GRCm38) W762R probably damaging Het
Aldh1a1 T A 19: 20,621,711 (GRCm38) V162E probably damaging Het
Alms1 A G 6: 85,641,450 (GRCm38) D2357G probably damaging Het
Arfgef1 G T 1: 10,184,460 (GRCm38) Q718K probably damaging Het
Arid5b A C 10: 68,243,177 (GRCm38) V110G possibly damaging Het
Bpifb3 T A 2: 153,919,734 (GRCm38) D34E probably damaging Het
Cacfd1 C T 2: 27,015,546 (GRCm38) A85V possibly damaging Het
Cep57l1 C A 10: 41,721,600 (GRCm38) S345I probably benign Het
Cibar2 T C 8: 120,174,850 (GRCm38) T39A probably damaging Het
Clca3b G A 3: 144,836,656 (GRCm38) R462* probably null Het
Dip2a A G 10: 76,274,246 (GRCm38) S1179P possibly damaging Het
Dnal1 T C 12: 84,127,006 (GRCm38) L27P probably damaging Het
Dock7 A G 4: 98,975,943 (GRCm38) V1288A unknown Het
Elmod1 A T 9: 53,934,224 (GRCm38) probably null Het
Epb41l5 T G 1: 119,623,949 (GRCm38) K102T probably damaging Het
Fermt3 T C 19: 7,003,038 (GRCm38) I358V probably benign Het
Frmd3 A G 4: 74,161,718 (GRCm38) I316V probably benign Het
Fryl T C 5: 73,047,496 (GRCm38) probably null Het
Gm4131 T A 14: 62,464,907 (GRCm38) H204L possibly damaging Het
Hmcn2 A G 2: 31,453,135 (GRCm38) S4558G possibly damaging Het
Hmcn2 G A 2: 31,435,794 (GRCm38) G4278R probably damaging Het
Igkv1-132 A G 6: 67,760,124 (GRCm38) T25A probably benign Het
Kcp T C 6: 29,485,512 (GRCm38) E1161G probably damaging Het
Macf1 A T 4: 123,399,442 (GRCm38) I5371K probably damaging Het
Malrd1 T A 2: 16,006,718 (GRCm38) C1670S probably damaging Het
Mfsd13a T A 19: 46,368,370 (GRCm38) V270E probably damaging Het
Mroh1 A G 15: 76,427,638 (GRCm38) I524V probably benign Het
Mta1 T C 12: 113,126,798 (GRCm38) S175P possibly damaging Het
Myo7a C T 7: 98,079,366 (GRCm38) R800H probably benign Het
Ncald T A 15: 37,397,280 (GRCm38) Y52F probably damaging Het
Nherf1 C T 11: 115,163,767 (GRCm38) A81V possibly damaging Het
Nomo1 T C 7: 46,083,268 (GRCm38) S1152P probably damaging Het
Nr3c1 A G 18: 39,487,037 (GRCm38) F66L probably benign Het
Nrf1 T C 6: 30,118,971 (GRCm38) L363S probably benign Het
Or4n4 C A 14: 50,281,579 (GRCm38) V225F probably benign Het
Or8b12b A T 9: 37,772,997 (GRCm38) I113F probably damaging Het
Osbpl3 A G 6: 50,344,906 (GRCm38) M300T possibly damaging Het
Parpbp T A 10: 88,111,755 (GRCm38) N339I probably damaging Het
Pdlim5 A T 3: 142,244,917 (GRCm38) H578Q probably damaging Het
Pear1 T C 3: 87,750,225 (GRCm38) N1009S probably damaging Het
Pnpla8 A G 12: 44,311,503 (GRCm38) I745M probably damaging Het
Pom121l12 C A 11: 14,599,681 (GRCm38) T129K probably damaging Het
Ppp1r14a T C 7: 29,293,262 (GRCm38) S130P probably damaging Het
Prss12 A C 3: 123,487,131 (GRCm38) L488F probably benign Het
Psd3 C T 8: 67,908,705 (GRCm38) V559I possibly damaging Het
Rrh T C 3: 129,808,982 (GRCm38) T364A probably benign Het
Shcbp1 A T 8: 4,741,876 (GRCm38) M479K probably damaging Het
Shcbp1 A C 8: 4,754,310 (GRCm38) F200C probably damaging Het
Slx1b G T 7: 126,692,527 (GRCm38) R122S probably damaging Het
Spata31f1e G A 4: 42,793,856 (GRCm38) T92I possibly damaging Het
Spidr A G 16: 16,114,825 (GRCm38) probably null Het
St18 G A 1: 6,802,559 (GRCm38) D173N probably benign Het
Stambpl1 T C 19: 34,226,648 (GRCm38) I46T probably damaging Het
Syne1 C T 10: 5,057,886 (GRCm38) D113N probably damaging Het
Tg G A 15: 66,725,272 (GRCm38) V1741I probably benign Het
Thsd7b T A 1: 130,195,275 (GRCm38) W1544R probably benign Het
Tiam2 G A 17: 3,503,008 (GRCm38) R1120H possibly damaging Het
Tinag A T 9: 77,001,649 (GRCm38) C337S probably damaging Het
Tm4sf1 G C 3: 57,293,089 (GRCm38) A64G probably damaging Het
Tmprss6 A G 15: 78,443,817 (GRCm38) Y572H unknown Het
Tnfrsf11a G A 1: 105,827,129 (GRCm38) A309T possibly damaging Het
Txndc11 A G 16: 11,128,561 (GRCm38) Y129H probably damaging Het
Ube3b T C 5: 114,415,681 (GRCm38) F974S possibly damaging Het
Utrn C A 10: 12,728,009 (GRCm38) probably null Het
Vmn1r58 T A 7: 5,411,067 (GRCm38) M55L probably benign Het
Vnn1 T A 10: 23,900,760 (GRCm38) S336R probably benign Het
Wwc2 T C 8: 47,869,794 (GRCm38) Y424C unknown Het
Zfp507 T C 7: 35,776,080 (GRCm38) I903V probably damaging Het
Zfp551 C T 7: 12,416,754 (GRCm38) G243R probably damaging Het
Zfp60 T A 7: 27,749,019 (GRCm38) C371S probably damaging Het
Other mutations in Cyp26c1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02008:Cyp26c1 APN 19 37,688,924 (GRCm38) missense probably damaging 1.00
IGL02008:Cyp26c1 APN 19 37,688,923 (GRCm38) missense probably damaging 1.00
IGL02713:Cyp26c1 APN 19 37,693,219 (GRCm38) missense probably damaging 1.00
IGL02836:Cyp26c1 APN 19 37,687,156 (GRCm38) missense probably benign 0.00
R0114:Cyp26c1 UTSW 19 37,686,633 (GRCm38) missense probably benign 0.24
R0671:Cyp26c1 UTSW 19 37,686,561 (GRCm38) missense probably damaging 1.00
R1544:Cyp26c1 UTSW 19 37,690,945 (GRCm38) missense probably benign 0.03
R1959:Cyp26c1 UTSW 19 37,687,377 (GRCm38) missense probably damaging 0.99
R1961:Cyp26c1 UTSW 19 37,687,377 (GRCm38) missense probably damaging 0.99
R4393:Cyp26c1 UTSW 19 37,686,657 (GRCm38) missense probably damaging 1.00
R4488:Cyp26c1 UTSW 19 37,693,210 (GRCm38) missense probably benign
R4532:Cyp26c1 UTSW 19 37,685,779 (GRCm38) missense probably damaging 1.00
R4687:Cyp26c1 UTSW 19 37,692,937 (GRCm38) missense probably damaging 1.00
R6302:Cyp26c1 UTSW 19 37,686,488 (GRCm38) missense probably damaging 1.00
R7634:Cyp26c1 UTSW 19 37,692,999 (GRCm38) missense probably damaging 1.00
R8375:Cyp26c1 UTSW 19 37,687,212 (GRCm38) missense probably benign 0.19
R8681:Cyp26c1 UTSW 19 37,686,617 (GRCm38) missense probably damaging 0.99
R9014:Cyp26c1 UTSW 19 37,687,396 (GRCm38) critical splice donor site probably null
R9462:Cyp26c1 UTSW 19 37,693,186 (GRCm38) missense probably damaging 0.97
Predicted Primers PCR Primer

Sequencing Primer
Posted On 2019-09-13