Incidental Mutation 'IGL02713:Cyp26c1'
ID304659
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cyp26c1
Ensembl Gene ENSMUSG00000062432
Gene Namecytochrome P450, family 26, subfamily c, polypeptide 1
SynonymsEG546726
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL02713
Quality Score
Status
Chromosome19
Chromosomal Location37685581-37693398 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 37693219 bp
ZygosityHeterozygous
Amino Acid Change Threonine to Methionine at position 490 (T490M)
Ref Sequence ENSEMBL: ENSMUSP00000073105 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025946] [ENSMUST00000073391]
Predicted Effect probably benign
Transcript: ENSMUST00000025946
SMART Domains Protein: ENSMUSP00000025946
Gene: ENSMUSG00000024987

DomainStartEndE-ValueType
transmembrane domain 5 27 N/A INTRINSIC
Pfam:p450 45 487 2.4e-68 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000073391
AA Change: T490M

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000073105
Gene: ENSMUSG00000062432
AA Change: T490M

DomainStartEndE-ValueType
transmembrane domain 7 29 N/A INTRINSIC
Pfam:p450 50 499 6.4e-54 PFAM
Coding Region Coverage
Validation Efficiency
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: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2010300C02Rik C A 1: 37,624,137 K893N possibly damaging Het
Acan A G 7: 79,100,244 T1588A possibly damaging Het
Apeh A T 9: 108,085,672 L700Q probably damaging Het
Arid1b T C 17: 5,343,011 I2272T probably damaging Het
Best3 T G 10: 117,024,529 F565V probably benign Het
Birc6 A G 17: 74,579,324 N521S probably benign Het
Cd209f T A 8: 4,103,732 R191S probably benign Het
Clec4e A T 6: 123,286,304 Y63* probably null Het
Cyp2b9 T A 7: 26,173,520 H29Q probably benign Het
Cyp2d10 A C 15: 82,406,082 probably benign Het
Dgat1 C A 15: 76,503,534 R291L probably damaging Het
Dyrk1a C A 16: 94,685,345 probably benign Het
Esp4 T C 17: 40,602,406 F55L probably benign Het
Fam227a G A 15: 79,636,796 probably benign Het
Ggt1 T C 10: 75,574,344 Y37H probably damaging Het
Grsf1 A T 5: 88,672,730 I64K probably damaging Het
Itga6 C T 2: 71,816,713 T89I possibly damaging Het
Jph2 T C 2: 163,375,917 T280A probably damaging Het
Lipm A G 19: 34,101,170 M1V probably null Het
Nbeal1 C T 1: 60,235,237 A513V possibly damaging Het
Olfr1491 A T 19: 13,705,189 I121F possibly damaging Het
Olfr514 A T 7: 108,825,594 M135K probably damaging Het
Olfr518 G A 7: 108,880,853 T251I probably damaging Het
Olfr61 A T 7: 140,637,916 I72F probably damaging Het
Olfr888 C T 9: 38,109,327 P214S probably damaging Het
Olfr995 T A 2: 85,438,637 I174F probably damaging Het
Orc6 A G 8: 85,307,586 E146G probably benign Het
Patl2 A G 2: 122,125,847 S179P probably benign Het
Pdzd8 C A 19: 59,345,458 G44C probably damaging Het
Phox2b A G 5: 67,096,595 probably benign Het
Ppp4r3b T G 11: 29,188,445 H264Q probably damaging Het
Ptprk T C 10: 28,592,811 I1409T possibly damaging Het
Pum1 T A 4: 130,766,012 I842N probably damaging Het
Rnf123 G A 9: 108,068,302 R390* probably null Het
Sgca T A 11: 94,971,305 N174Y probably damaging Het
Slc7a14 A T 3: 31,257,763 L36Q probably damaging Het
Srrm1 G A 4: 135,325,104 P658L unknown Het
Stard13 G A 5: 151,042,186 Q935* probably null Het
Suds3 C T 5: 117,094,905 probably null Het
Sv2b A T 7: 75,124,163 L520Q possibly damaging Het
Tmem26 T C 10: 68,751,295 F191S probably damaging Het
Other mutations in Cyp26c1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02008:Cyp26c1 APN 19 37688923 missense probably damaging 1.00
IGL02008:Cyp26c1 APN 19 37688924 missense probably damaging 1.00
IGL02836:Cyp26c1 APN 19 37687156 missense probably benign 0.00
R0114:Cyp26c1 UTSW 19 37686633 missense probably benign 0.24
R0671:Cyp26c1 UTSW 19 37686561 missense probably damaging 1.00
R1544:Cyp26c1 UTSW 19 37690945 missense probably benign 0.03
R1959:Cyp26c1 UTSW 19 37687377 missense probably damaging 0.99
R1961:Cyp26c1 UTSW 19 37687377 missense probably damaging 0.99
R4393:Cyp26c1 UTSW 19 37686657 missense probably damaging 1.00
R4488:Cyp26c1 UTSW 19 37693210 missense probably benign
R4532:Cyp26c1 UTSW 19 37685779 missense probably damaging 1.00
R4687:Cyp26c1 UTSW 19 37692937 missense probably damaging 1.00
R6302:Cyp26c1 UTSW 19 37686488 missense probably damaging 1.00
R7334:Cyp26c1 UTSW 19 37688875 missense probably benign
R7634:Cyp26c1 UTSW 19 37692999 missense probably damaging 1.00
Posted On2015-04-16