Incidental Mutation 'IGL02709:Cyp26a1'
ID 304495
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cyp26a1
Ensembl Gene ENSMUSG00000024987
Gene Name cytochrome P450, family 26, subfamily a, polypeptide 1
Synonyms retinoic acid hydrolase, P450RA, Cyp26, P450RAI, RAH
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL02709
Quality Score
Status
Chromosome 19
Chromosomal Location 37686246-37689984 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 37688426 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 316 (L316P)
Ref Sequence ENSEMBL: ENSMUSP00000025946 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025946]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000025946
AA Change: L316P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000025946
Gene: ENSMUSG00000024987
AA Change: L316P

DomainStartEndE-ValueType
transmembrane domain 5 27 N/A INTRINSIC
Pfam:p450 45 487 2.4e-68 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 endoplasmic reticulum protein acts on retinoids, including all-trans-retinoic acid (RA), with both 4-hydroxylation and 18-hydroxylation activities. This enzyme regulates the cellular level of retinoic acid which is involved in regulation of gene expression in both embryonic and adult tissues. Two alternatively spliced transcript variants of this gene, which encode the distinct isoforms, have been reported. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygotes for targeted null mutations die during mid-late gestation and exhibit spina bifida, caudal agenesis, and abnormalities of the kidneys, urogenital tract, hindgut, cervical vertebrae, and rostral hindbrain. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aadacl2fm2 A G 3: 59,654,619 (GRCm39) Y151C probably damaging Het
Aco1 G A 4: 40,180,199 (GRCm39) V367M possibly damaging Het
Acsm5 G A 7: 119,134,041 (GRCm39) W274* probably null Het
Ago1 G A 4: 126,347,433 (GRCm39) Q135* probably null Het
Bmpr1b A T 3: 141,562,314 (GRCm39) L291Q probably damaging Het
Cdcp1 A G 9: 123,002,879 (GRCm39) Y731H probably damaging Het
Clrn2 A G 5: 45,617,495 (GRCm39) N122S probably damaging Het
Col4a3 G T 1: 82,656,833 (GRCm39) G751W unknown Het
Ctsc C T 7: 87,957,347 (GRCm39) A294V probably damaging Het
Dennd6b A T 15: 89,075,125 (GRCm39) probably benign Het
Dnah10 T A 5: 124,850,809 (GRCm39) Y1659* probably null Het
Dspp A C 5: 104,325,116 (GRCm39) D493A unknown Het
Dyrk1a C T 16: 94,486,102 (GRCm39) A445V probably benign Het
E030025P04Rik C A 11: 109,030,324 (GRCm39) probably benign Het
Ecpas A G 4: 58,872,699 (GRCm39) S201P possibly damaging Het
Foxd4 T C 19: 24,876,973 (GRCm39) H409R probably damaging Het
Fubp3 A G 2: 31,485,343 (GRCm39) probably benign Het
Herc1 A G 9: 66,404,962 (GRCm39) K4511E probably damaging Het
Ifna1 A G 4: 88,768,523 (GRCm39) D67G probably benign Het
Map1lc3b T A 8: 122,322,768 (GRCm39) L82Q probably damaging Het
Mcc A T 18: 44,578,877 (GRCm39) S844T possibly damaging Het
Mccc1 A T 3: 36,044,888 (GRCm39) *85K probably null Het
Memo1 G A 17: 74,552,027 (GRCm39) L90F probably damaging Het
Mfrp A G 9: 44,014,561 (GRCm39) H236R probably benign Het
Mmrn1 G A 6: 60,950,030 (GRCm39) D327N probably damaging Het
Mycbp2 T C 14: 103,392,697 (GRCm39) E3178G probably damaging Het
Pcsk9 A G 4: 106,304,886 (GRCm39) probably benign Het
Pros1 T C 16: 62,719,308 (GRCm39) L110P probably damaging Het
Reck A G 4: 43,913,791 (GRCm39) Y215C probably damaging Het
Ripk4 T C 16: 97,544,766 (GRCm39) D627G probably damaging Het
Rnf144a G T 12: 26,371,009 (GRCm39) H151N probably damaging Het
Slc39a9 T A 12: 80,713,421 (GRCm39) H106Q probably damaging Het
Stab2 A G 10: 86,682,029 (GRCm39) probably benign Het
Sympk T G 7: 18,781,463 (GRCm39) H806Q probably benign Het
Tars2 C A 3: 95,649,383 (GRCm39) probably benign Het
Thap3 T A 4: 152,070,169 (GRCm39) H75L probably damaging Het
Trappc8 T C 18: 20,970,235 (GRCm39) I918M possibly damaging Het
Ube2j2 T C 4: 156,041,788 (GRCm39) V249A probably damaging Het
Ubqln3 T G 7: 103,790,543 (GRCm39) T516P probably benign Het
Unc13c A G 9: 73,466,238 (GRCm39) S1810P probably benign Het
Vmn1r4 T A 6: 56,933,524 (GRCm39) Y9* probably null Het
Vmn1r89 T A 7: 12,954,131 (GRCm39) M221K probably damaging Het
Vmn2r1 G T 3: 64,012,355 (GRCm39) V739F probably benign Het
Vmn2r25 C T 6: 123,816,723 (GRCm39) R286Q possibly damaging Het
Vmn2r91 T A 17: 18,325,711 (GRCm39) Y110N possibly damaging Het
Zbtb48 T C 4: 152,105,851 (GRCm39) H418R probably damaging Het
Other mutations in Cyp26a1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01098:Cyp26a1 APN 19 37,688,450 (GRCm39) missense probably benign 0.00
IGL01398:Cyp26a1 APN 19 37,686,395 (GRCm39) missense probably damaging 1.00
IGL01624:Cyp26a1 APN 19 37,686,781 (GRCm39) missense possibly damaging 0.94
IGL02398:Cyp26a1 APN 19 37,688,467 (GRCm39) missense probably benign
IGL02437:Cyp26a1 APN 19 37,686,943 (GRCm39) missense probably benign
IGL02712:Cyp26a1 APN 19 37,688,426 (GRCm39) missense probably damaging 1.00
R0834:Cyp26a1 UTSW 19 37,688,405 (GRCm39) missense probably damaging 0.96
R1517:Cyp26a1 UTSW 19 37,687,308 (GRCm39) missense probably benign
R1696:Cyp26a1 UTSW 19 37,689,626 (GRCm39) missense probably benign 0.02
R1831:Cyp26a1 UTSW 19 37,689,071 (GRCm39) missense probably damaging 0.98
R2040:Cyp26a1 UTSW 19 37,686,499 (GRCm39) missense possibly damaging 0.46
R2504:Cyp26a1 UTSW 19 37,686,790 (GRCm39) missense probably damaging 1.00
R4693:Cyp26a1 UTSW 19 37,686,925 (GRCm39) missense probably benign 0.11
R4808:Cyp26a1 UTSW 19 37,689,573 (GRCm39) missense probably benign
R5124:Cyp26a1 UTSW 19 37,689,665 (GRCm39) missense probably benign 0.01
R5412:Cyp26a1 UTSW 19 37,689,630 (GRCm39) missense probably damaging 1.00
R5964:Cyp26a1 UTSW 19 37,688,410 (GRCm39) missense probably damaging 1.00
R6355:Cyp26a1 UTSW 19 37,687,377 (GRCm39) missense possibly damaging 0.46
R6426:Cyp26a1 UTSW 19 37,687,753 (GRCm39) missense probably benign 0.14
R6501:Cyp26a1 UTSW 19 37,687,518 (GRCm39) missense possibly damaging 0.80
R6734:Cyp26a1 UTSW 19 37,689,660 (GRCm39) missense probably damaging 1.00
R7019:Cyp26a1 UTSW 19 37,687,260 (GRCm39) missense probably damaging 1.00
R7188:Cyp26a1 UTSW 19 37,687,753 (GRCm39) missense possibly damaging 0.64
R7667:Cyp26a1 UTSW 19 37,689,072 (GRCm39) missense possibly damaging 0.83
R7694:Cyp26a1 UTSW 19 37,689,512 (GRCm39) missense possibly damaging 0.80
R8136:Cyp26a1 UTSW 19 37,689,654 (GRCm39) missense probably benign 0.00
R9198:Cyp26a1 UTSW 19 37,686,790 (GRCm39) missense probably damaging 1.00
R9674:Cyp26a1 UTSW 19 37,689,726 (GRCm39) missense probably damaging 1.00
Posted On 2015-04-16