Incidental Mutation 'IGL01624:Cyp26a1'
ID92654
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cyp26a1
Ensembl Gene ENSMUSG00000024987
Gene Namecytochrome P450, family 26, subfamily a, polypeptide 1
SynonymsCyp26, P450RA, P450RAI, retinoic acid hydrolase, RAH
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL01624
Quality Score
Status
Chromosome19
Chromosomal Location37697808-37701528 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 37698333 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Phenylalanine at position 78 (I78F)
Ref Sequence ENSEMBL: ENSMUSP00000025946 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025946] [ENSMUST00000073391]
Predicted Effect possibly damaging
Transcript: ENSMUST00000025946
AA Change: I78F

PolyPhen 2 Score 0.935 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000025946
Gene: ENSMUSG00000024987
AA Change: I78F

DomainStartEndE-ValueType
transmembrane domain 5 27 N/A INTRINSIC
Pfam:p450 45 487 2.4e-68 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000073391
SMART Domains Protein: ENSMUSP00000073105
Gene: ENSMUSG00000062432

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 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: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2210408I21Rik C T 13: 77,193,086 T18I probably damaging Het
Acod1 A G 14: 103,055,233 T398A probably benign Het
Adgrl2 A G 3: 148,836,527 V853A probably damaging Het
Ankhd1 T C 18: 36,658,013 S2488P probably damaging Het
Ankrd28 T C 14: 31,710,857 I578V probably benign Het
Atp2c2 A C 8: 119,757,450 R933S probably benign Het
Gck A G 11: 5,903,106 V338A possibly damaging Het
Ints6 A T 14: 62,696,871 M729K probably benign Het
Kank2 C A 9: 21,780,380 G500W probably damaging Het
Kansl1 G A 11: 104,424,552 T220I probably benign Het
Lgi4 T C 7: 31,067,688 L380P probably damaging Het
Lhx9 G T 1: 138,832,783 Y276* probably null Het
Lipm T A 19: 34,121,145 Y340N probably damaging Het
Mlxip A G 5: 123,395,329 T134A probably benign Het
Nwd2 A T 5: 63,806,810 I1246F probably damaging Het
Olfr1099 A G 2: 86,959,230 V76A probably benign Het
Olfr114 A T 17: 37,589,925 W143R probably benign Het
Olfr822 T A 10: 130,074,650 L80H probably damaging Het
Rbm44 T A 1: 91,156,658 N601K probably damaging Het
Rgs4 T A 1: 169,744,478 Y84F probably benign Het
Scn7a T C 2: 66,751,925 T131A probably benign Het
Slc17a2 A G 13: 23,814,986 I121V probably benign Het
Slitrk5 T A 14: 111,681,094 Y717N probably damaging Het
Sox6 A G 7: 115,476,968 S770P probably damaging Het
Spata31 T C 13: 64,921,585 W516R probably damaging Het
Sugt1 A G 14: 79,596,790 N77S probably benign Het
Sumf1 C T 6: 108,153,201 D186N probably damaging Het
Syde2 T C 3: 146,007,035 L709S probably damaging Het
Tcp1 T A 17: 12,919,925 I163K probably benign Het
Upf2 A T 2: 6,034,179 E287D probably benign Het
Usp17lb A G 7: 104,842,513 probably benign Het
Vmn2r10 G A 5: 109,006,246 S64F possibly 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
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
IGL02712: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
Posted On2013-12-09