Incidental Mutation 'IGL02712:Cyp26a1'
ID 304623
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 Cyp26, P450RA, P450RAI, retinoic acid hydrolase, RAH
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL02712
Quality Score
Status
Chromosome 19
Chromosomal Location 37697808-37701528 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to C at 37699978 bp (GRCm38)
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: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Angel1 A G 12: 86,722,839 probably benign Het
Arhgef33 T A 17: 80,360,373 V289D probably damaging Het
BC003331 A G 1: 150,386,356 probably null Het
Cabp5 A G 7: 13,403,346 M93V probably damaging Het
Ces1a A C 8: 93,036,040 V201G probably damaging Het
Cisd1 A G 10: 71,336,351 F34L probably benign Het
Ddx39 A G 8: 83,721,757 I213V probably benign Het
Ddx59 A T 1: 136,439,781 N542I probably benign Het
Dytn T C 1: 63,664,422 T233A probably benign Het
Fbxo7 A G 10: 86,024,438 T49A possibly damaging Het
Fmnl2 C A 2: 53,036,498 probably benign Het
Golga2 G T 2: 32,304,213 K610N probably damaging Het
Hipk4 T C 7: 27,528,635 Y269H probably damaging Het
Ifi209 T C 1: 173,642,701 V285A possibly damaging Het
Ifna1 A G 4: 88,850,286 D67G probably benign Het
Map3k13 T G 16: 21,905,255 V329G probably damaging Het
Mrm3 T C 11: 76,243,857 W29R possibly damaging Het
Nos1ap T C 1: 170,329,251 I213V possibly damaging Het
Nphp4 C T 4: 152,556,275 T1033M probably damaging Het
Nr5a2 T C 1: 136,940,528 probably null Het
Nrcam A G 12: 44,573,827 Y885C probably damaging Het
Olfr23 T C 11: 73,940,930 V228A probably benign Het
Olfr983 T C 9: 40,092,786 H60R probably damaging Het
Ovgp1 T A 3: 105,986,513 probably benign Het
Pdzd2 T C 15: 12,376,027 S1341G probably benign Het
Pld2 T G 11: 70,557,079 L856R probably benign Het
Plod1 A G 4: 147,918,887 F494L possibly damaging Het
Pnkd T A 1: 74,349,868 S233T possibly damaging Het
Rnf144b T C 13: 47,239,779 I198T probably damaging Het
Rsc1a1 G T 4: 141,685,065 Q179K probably benign Het
Slc5a10 C T 11: 61,707,806 W249* probably null Het
Slc9a3r1 T C 11: 115,177,234 V200A possibly damaging Het
Spata32 T G 11: 103,208,147 probably benign Het
Stk4 T A 2: 164,096,897 H228Q probably damaging Het
Szt2 T A 4: 118,384,833 Q1592L probably benign Het
Tnc T A 4: 63,975,256 I1598F probably damaging Het
Togaram2 A T 17: 71,704,754 D476V probably benign Het
Ttll6 T G 11: 96,139,775 probably benign Het
Vmn2r118 A G 17: 55,592,655 S750P probably benign Het
Zswim5 C T 4: 116,985,695 T879I probably damaging Het
Other mutations in Cyp26a1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01098:Cyp26a1 APN 19 37700002 missense probably benign 0.00
IGL01398:Cyp26a1 APN 19 37697947 missense probably damaging 1.00
IGL01624:Cyp26a1 APN 19 37698333 missense possibly damaging 0.94
IGL02398:Cyp26a1 APN 19 37700019 missense probably benign
IGL02437:Cyp26a1 APN 19 37698495 missense probably benign
IGL02709:Cyp26a1 APN 19 37699978 missense probably damaging 1.00
R0834:Cyp26a1 UTSW 19 37699957 missense probably damaging 0.96
R1517:Cyp26a1 UTSW 19 37698860 missense probably benign
R1696:Cyp26a1 UTSW 19 37701178 missense probably benign 0.02
R1831:Cyp26a1 UTSW 19 37700623 missense probably damaging 0.98
R2040:Cyp26a1 UTSW 19 37698051 missense possibly damaging 0.46
R2504:Cyp26a1 UTSW 19 37698342 missense probably damaging 1.00
R4693:Cyp26a1 UTSW 19 37698477 missense probably benign 0.11
R4808:Cyp26a1 UTSW 19 37701125 missense probably benign
R5124:Cyp26a1 UTSW 19 37701217 missense probably benign 0.01
R5412:Cyp26a1 UTSW 19 37701182 missense probably damaging 1.00
R5964:Cyp26a1 UTSW 19 37699962 missense probably damaging 1.00
R6355:Cyp26a1 UTSW 19 37698929 missense possibly damaging 0.46
R6426:Cyp26a1 UTSW 19 37699305 missense probably benign 0.14
R6501:Cyp26a1 UTSW 19 37699070 missense possibly damaging 0.80
R6734:Cyp26a1 UTSW 19 37701212 missense probably damaging 1.00
R7019:Cyp26a1 UTSW 19 37698812 missense probably damaging 1.00
R7188:Cyp26a1 UTSW 19 37699305 missense possibly damaging 0.64
R7667:Cyp26a1 UTSW 19 37700624 missense possibly damaging 0.83
R7694:Cyp26a1 UTSW 19 37701064 missense possibly damaging 0.80
R8136:Cyp26a1 UTSW 19 37701206 missense probably benign 0.00
R9198:Cyp26a1 UTSW 19 37698342 missense probably damaging 1.00
R9674:Cyp26a1 UTSW 19 37701278 missense probably damaging 1.00
Posted On 2015-04-16