Incidental Mutation 'IGL02146:Cyp20a1'
ID 281777
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cyp20a1
Ensembl Gene ENSMUSG00000049439
Gene Name cytochrome P450, family 20, subfamily a, polypeptide 1
Synonyms A930011N14Rik
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL02146
Quality Score
Status
Chromosome 1
Chromosomal Location 60382482-60427219 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 60410410 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Isoleucine at position 237 (K237I)
Ref Sequence ENSEMBL: ENSMUSP00000050823 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000060608] [ENSMUST00000148443]
AlphaFold Q8BKE6
Predicted Effect possibly damaging
Transcript: ENSMUST00000060608
AA Change: K237I

PolyPhen 2 Score 0.793 (Sensitivity: 0.85; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000050823
Gene: ENSMUSG00000049439
AA Change: K237I

DomainStartEndE-ValueType
transmembrane domain 5 24 N/A INTRINSIC
Pfam:p450 40 456 1.5e-46 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000114202
SMART Domains Protein: ENSMUSP00000109840
Gene: ENSMUSG00000049439

DomainStartEndE-ValueType
transmembrane domain 4 23 N/A INTRINSIC
Pfam:p450 40 280 1.5e-15 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000148443
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 that catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This protein lacks one amino acid of the conserved heme binding site. It also lacks the conserved I-helix motif AGX(D,E)T, suggesting that its substrate may carry its own oxygen. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700017B05Rik A G 9: 57,164,023 (GRCm39) C784R possibly damaging Het
Akp3 A T 1: 87,054,297 (GRCm39) D278V probably benign Het
Atxn7l1 G T 12: 33,418,030 (GRCm39) R730S probably benign Het
Bag6 A G 17: 35,355,191 (GRCm39) T30A probably damaging Het
Blk G T 14: 63,611,648 (GRCm39) P429H probably damaging Het
Bmp2k T A 5: 97,212,689 (GRCm39) M524K unknown Het
Bst1 T A 5: 43,983,678 (GRCm39) H221Q probably damaging Het
Ces2g T C 8: 105,693,576 (GRCm39) I419T possibly damaging Het
Cnep1r1 T C 8: 88,856,326 (GRCm39) V34A probably benign Het
Ctnnbl1 A G 2: 157,661,414 (GRCm39) E308G probably damaging Het
Dlg5 T C 14: 24,252,429 (GRCm39) T104A probably damaging Het
Dnaaf11 C T 15: 66,361,374 (GRCm39) W42* probably null Het
Dnaaf11 C A 15: 66,361,375 (GRCm39) W42L probably benign Het
Dnah9 C T 11: 65,818,526 (GRCm39) V3271M probably damaging Het
Eed T A 7: 89,618,803 (GRCm39) N204Y possibly damaging Het
Fat3 A G 9: 15,910,878 (GRCm39) V1708A probably benign Het
Fcrl6 T C 1: 172,426,264 (GRCm39) T178A probably benign Het
Galnt4 A C 10: 98,945,563 (GRCm39) K429N possibly damaging Het
Ints6 T A 14: 62,996,709 (GRCm39) T94S possibly damaging Het
Iqsec3 A T 6: 121,360,916 (GRCm39) S981T probably damaging Het
Itga9 T A 9: 118,663,400 (GRCm39) S146T possibly damaging Het
Itpr3 A G 17: 27,336,249 (GRCm39) Y2325C probably damaging Het
Kng2 T A 16: 22,806,582 (GRCm39) Q539L probably damaging Het
Lmtk3 T A 7: 45,444,371 (GRCm39) probably benign Het
Map1a T C 2: 121,129,927 (GRCm39) Y248H probably damaging Het
Mroh1 A G 15: 76,318,879 (GRCm39) probably benign Het
Mroh2b T C 15: 4,980,776 (GRCm39) probably null Het
Myo18b A T 5: 112,991,151 (GRCm39) M942K probably damaging Het
Myzap T A 9: 71,471,730 (GRCm39) T94S probably benign Het
Nebl C A 2: 17,353,679 (GRCm39) R957S probably damaging Het
Nexn A T 3: 151,952,885 (GRCm39) D278E probably benign Het
Nlgn1 A T 3: 25,966,846 (GRCm39) N222K probably damaging Het
Or6c76 T A 10: 129,612,727 (GRCm39) probably benign Het
Or8d1 G A 9: 38,766,654 (GRCm39) A99T probably benign Het
Osbpl6 A T 2: 76,380,094 (GRCm39) R79S possibly damaging Het
Phip T C 9: 82,763,771 (GRCm39) I1268M probably benign Het
Pkd2 G T 5: 104,637,157 (GRCm39) R590L probably damaging Het
Reg2 G A 6: 78,382,568 (GRCm39) probably benign Het
Scaf1 A T 7: 44,662,934 (GRCm39) D26E probably damaging Het
Ska1 A G 18: 74,329,981 (GRCm39) I253T possibly damaging Het
Slc11a2 T C 15: 100,299,169 (GRCm39) N443D probably damaging Het
Slc6a12 A T 6: 121,330,460 (GRCm39) T155S probably benign Het
Slit3 A G 11: 35,125,675 (GRCm39) K118R possibly damaging Het
Snap23 T G 2: 120,429,792 (GRCm39) N212K probably damaging Het
Snx13 T A 12: 35,151,078 (GRCm39) D346E probably benign Het
Sumf1 C A 6: 108,150,392 (GRCm39) probably null Het
Susd2 T C 10: 75,474,267 (GRCm39) N479S possibly damaging Het
Tiam1 A G 16: 89,646,569 (GRCm39) I821T probably benign Het
Tll2 C A 19: 41,086,276 (GRCm39) V651L probably benign Het
Vmn2r1 A G 3: 64,012,104 (GRCm39) D655G probably benign Het
Vmn2r72 T C 7: 85,387,170 (GRCm39) Y798C probably damaging Het
Vps13b A C 15: 35,646,479 (GRCm39) I1528L probably benign Het
Wdtc1 G A 4: 133,029,076 (GRCm39) L337F probably benign Het
Zfp128 A C 7: 12,623,959 (GRCm39) K109T possibly damaging Het
Other mutations in Cyp20a1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02725:Cyp20a1 APN 1 60,405,865 (GRCm39) missense probably benign 0.08
IGL03394:Cyp20a1 APN 1 60,405,840 (GRCm39) missense probably damaging 0.99
R0003:Cyp20a1 UTSW 1 60,426,285 (GRCm39) splice site probably benign
R0098:Cyp20a1 UTSW 1 60,426,413 (GRCm39) nonsense probably null
R0098:Cyp20a1 UTSW 1 60,426,413 (GRCm39) nonsense probably null
R0217:Cyp20a1 UTSW 1 60,382,625 (GRCm39) splice site probably benign
R0491:Cyp20a1 UTSW 1 60,410,486 (GRCm39) missense possibly damaging 0.71
R1543:Cyp20a1 UTSW 1 60,415,353 (GRCm39) splice site probably benign
R4519:Cyp20a1 UTSW 1 60,426,306 (GRCm39) missense probably damaging 1.00
R4621:Cyp20a1 UTSW 1 60,415,258 (GRCm39) missense probably benign
R4930:Cyp20a1 UTSW 1 60,405,878 (GRCm39) missense probably damaging 0.98
R4980:Cyp20a1 UTSW 1 60,402,373 (GRCm39) missense probably damaging 1.00
R5088:Cyp20a1 UTSW 1 60,402,509 (GRCm39) missense probably damaging 0.99
R5356:Cyp20a1 UTSW 1 60,418,546 (GRCm39) missense probably benign 0.08
R5545:Cyp20a1 UTSW 1 60,415,241 (GRCm39) missense possibly damaging 0.71
R5897:Cyp20a1 UTSW 1 60,392,220 (GRCm39) missense probably damaging 1.00
R5926:Cyp20a1 UTSW 1 60,402,401 (GRCm39) missense possibly damaging 0.52
R6317:Cyp20a1 UTSW 1 60,391,283 (GRCm39) missense probably damaging 1.00
R6320:Cyp20a1 UTSW 1 60,391,331 (GRCm39) critical splice donor site probably null
R7471:Cyp20a1 UTSW 1 60,393,799 (GRCm39) missense probably damaging 0.99
R7681:Cyp20a1 UTSW 1 60,392,192 (GRCm39) missense probably benign 0.01
R7715:Cyp20a1 UTSW 1 60,411,764 (GRCm39) missense probably benign 0.00
R8033:Cyp20a1 UTSW 1 60,411,750 (GRCm39) missense probably benign 0.02
R8259:Cyp20a1 UTSW 1 60,391,330 (GRCm39) critical splice donor site probably null
R8430:Cyp20a1 UTSW 1 60,402,488 (GRCm39) missense possibly damaging 0.90
R8676:Cyp20a1 UTSW 1 60,418,579 (GRCm39) missense possibly damaging 0.95
R8748:Cyp20a1 UTSW 1 60,392,181 (GRCm39) missense probably damaging 0.98
R8885:Cyp20a1 UTSW 1 60,411,765 (GRCm39) missense possibly damaging 0.48
R8935:Cyp20a1 UTSW 1 60,410,473 (GRCm39) missense probably damaging 0.97
R9171:Cyp20a1 UTSW 1 60,415,343 (GRCm39) missense probably damaging 1.00
Z1177:Cyp20a1 UTSW 1 60,392,169 (GRCm39) missense probably damaging 0.96
Posted On 2015-04-16