Incidental Mutation 'IGL02349:Cyp17a1'
ID 289416
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cyp17a1
Ensembl Gene ENSMUSG00000003555
Gene Name cytochrome P450, family 17, subfamily a, polypeptide 1
Synonyms p450c17, Cyp17, steroid 17-alpha hydroxylase
Accession Numbers
Essential gene? Probably non essential (E-score: 0.190) question?
Stock # IGL02349
Quality Score
Chromosome 19
Chromosomal Location 46655604-46661439 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 46655936 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 451 (L451P)
Ref Sequence ENSEMBL: ENSMUSP00000026012 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000026012]
AlphaFold P27786
Predicted Effect probably damaging
Transcript: ENSMUST00000026012
AA Change: L451P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000026012
Gene: ENSMUSG00000003555
AA Change: L451P

signal peptide 1 18 N/A INTRINSIC
Pfam:p450 28 492 2.6e-140 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000131142
Predicted Effect noncoding transcript
Transcript: ENSMUST00000156577
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 protein localizes to the endoplasmic reticulum. It has both 17alpha-hydroxylase and 17,20-lyase activities and is a key enzyme in the steroidogenic pathway that produces progestins, mineralocorticoids, glucocorticoids, androgens, and estrogens. Mutations in this gene are associated with isolated steroid-17 alpha-hydroxylase deficiency, 17-alpha-hydroxylase/17,20-lyase deficiency, pseudohermaphroditism, and adrenal hyperplasia. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous null embryos display early embryonic lethality. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb8 A G 5: 24,611,462 (GRCm39) I484V probably benign Het
Acly C T 11: 100,410,505 (GRCm39) E158K probably benign Het
Akap3 T A 6: 126,837,226 (GRCm39) D3E probably benign Het
Alg8 A G 7: 97,029,101 (GRCm39) N152S possibly damaging Het
Ano7 A G 1: 93,319,212 (GRCm39) T323A probably benign Het
Bmp1 T C 14: 70,744,989 (GRCm39) Y252C possibly damaging Het
Cacnb3 A T 15: 98,538,842 (GRCm39) K159* probably null Het
Capns2 T A 8: 93,628,690 (GRCm39) V193D probably benign Het
Cct2 A G 10: 116,889,044 (GRCm39) I48T probably benign Het
Cep152 A G 2: 125,436,876 (GRCm39) S555P probably damaging Het
Col5a3 T C 9: 20,683,657 (GRCm39) E1533G unknown Het
Dgcr8 T C 16: 18,098,170 (GRCm39) E407G possibly damaging Het
Dhx57 T A 17: 80,563,000 (GRCm39) N876Y probably damaging Het
Dnah7b T A 1: 46,138,663 (GRCm39) L235* probably null Het
Fgfr2 A G 7: 129,844,336 (GRCm39) Y50H probably damaging Het
Gars1 T A 6: 55,025,049 (GRCm39) probably benign Het
Gfpt2 A T 11: 49,698,530 (GRCm39) I42F probably benign Het
Glcci1 A G 6: 8,558,581 (GRCm39) K35E probably damaging Het
Gpatch1 T A 7: 35,006,680 (GRCm39) M163L probably damaging Het
Gpr132 T C 12: 112,816,475 (GRCm39) Y117C probably damaging Het
Ints1 G A 5: 139,754,223 (GRCm39) P650S probably damaging Het
Itga2b T C 11: 102,352,189 (GRCm39) D464G probably damaging Het
Kansl2 C A 15: 98,427,327 (GRCm39) G185C probably damaging Het
Kat6b T A 14: 21,687,661 (GRCm39) M570K probably damaging Het
Macir A G 1: 97,573,777 (GRCm39) L96P probably damaging Het
Map3k19 T A 1: 127,751,506 (GRCm39) D615V possibly damaging Het
Map3k7cl A G 16: 87,352,901 (GRCm39) probably benign Het
Msto1 A C 3: 88,818,205 (GRCm39) S360R possibly damaging Het
Myo15b C A 11: 115,753,931 (GRCm39) probably benign Het
Nhlrc2 T C 19: 56,580,151 (GRCm39) V428A possibly damaging Het
Or13a28 T C 7: 140,218,384 (GRCm39) F257L probably benign Het
Or1j19 A C 2: 36,677,058 (GRCm39) T174P possibly damaging Het
Or51a39 G A 7: 102,363,333 (GRCm39) R96C probably damaging Het
Or51f2 A T 7: 102,527,116 (GRCm39) Y263F probably benign Het
Or5p51 A G 7: 107,444,812 (GRCm39) S43P probably benign Het
Or8b12 T A 9: 37,657,502 (GRCm39) M24K probably benign Het
Pcm1 G T 8: 41,741,192 (GRCm39) probably null Het
Plekhg3 A T 12: 76,609,074 (GRCm39) N149I probably damaging Het
Rbp3 C A 14: 33,677,676 (GRCm39) H541Q probably damaging Het
Rgp1 T C 4: 43,581,236 (GRCm39) probably null Het
Scyl2 A T 10: 89,493,800 (GRCm39) probably benign Het
Tas2r144 A C 6: 42,193,010 (GRCm39) H250P probably benign Het
Tmppe T C 9: 114,234,268 (GRCm39) V189A probably benign Het
Trp53bp1 G A 2: 121,029,555 (GRCm39) S1875L probably damaging Het
Txnl4a T A 18: 80,261,944 (GRCm39) L60H probably damaging Het
Upp2 A G 2: 58,667,898 (GRCm39) D217G probably benign Het
Vmn2r74 A G 7: 85,601,724 (GRCm39) L638P probably damaging Het
Vnn1 A G 10: 23,774,401 (GRCm39) N148S possibly damaging Het
Xrcc1 C T 7: 24,266,467 (GRCm39) Q241* probably null Het
Zfp990 A G 4: 145,257,447 (GRCm39) probably benign Het
Other mutations in Cyp17a1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01524:Cyp17a1 APN 19 46,659,495 (GRCm39) missense probably benign 0.00
IGL01839:Cyp17a1 APN 19 46,659,110 (GRCm39) missense possibly damaging 0.89
IGL01901:Cyp17a1 APN 19 46,659,531 (GRCm39) missense possibly damaging 0.64
IGL02033:Cyp17a1 APN 19 46,661,046 (GRCm39) nonsense probably null
IGL02663:Cyp17a1 APN 19 46,661,005 (GRCm39) missense probably damaging 1.00
IGL02883:Cyp17a1 APN 19 46,657,790 (GRCm39) missense probably benign 0.00
IGL03092:Cyp17a1 APN 19 46,661,050 (GRCm39) missense possibly damaging 0.79
IGL03239:Cyp17a1 APN 19 46,655,796 (GRCm39) missense probably damaging 1.00
IGL03336:Cyp17a1 APN 19 46,659,474 (GRCm39) missense probably benign 0.00
R3773:Cyp17a1 UTSW 19 46,658,162 (GRCm39) missense probably damaging 0.97
R4445:Cyp17a1 UTSW 19 46,656,462 (GRCm39) missense probably damaging 1.00
R4446:Cyp17a1 UTSW 19 46,656,462 (GRCm39) missense probably damaging 1.00
R4572:Cyp17a1 UTSW 19 46,658,990 (GRCm39) missense probably damaging 1.00
R5544:Cyp17a1 UTSW 19 46,661,093 (GRCm39) missense probably damaging 1.00
R5730:Cyp17a1 UTSW 19 46,661,095 (GRCm39) missense possibly damaging 0.49
R6163:Cyp17a1 UTSW 19 46,657,761 (GRCm39) missense possibly damaging 0.69
R6271:Cyp17a1 UTSW 19 46,661,159 (GRCm39) missense probably benign 0.17
R6728:Cyp17a1 UTSW 19 46,657,673 (GRCm39) missense probably benign
R6729:Cyp17a1 UTSW 19 46,659,020 (GRCm39) missense probably benign
R7025:Cyp17a1 UTSW 19 46,659,419 (GRCm39) missense probably damaging 0.98
R7395:Cyp17a1 UTSW 19 46,659,134 (GRCm39) missense probably benign
R8056:Cyp17a1 UTSW 19 46,659,030 (GRCm39) missense possibly damaging 0.95
R8308:Cyp17a1 UTSW 19 46,656,516 (GRCm39) missense probably benign 0.09
R8735:Cyp17a1 UTSW 19 46,659,533 (GRCm39) critical splice acceptor site probably null
R8737:Cyp17a1 UTSW 19 46,658,166 (GRCm39) missense probably benign 0.09
R9091:Cyp17a1 UTSW 19 46,656,030 (GRCm39) missense probably benign 0.00
R9270:Cyp17a1 UTSW 19 46,656,030 (GRCm39) missense probably benign 0.00
R9364:Cyp17a1 UTSW 19 46,657,165 (GRCm39) missense probably damaging 1.00
R9554:Cyp17a1 UTSW 19 46,657,165 (GRCm39) missense probably damaging 1.00
X0020:Cyp17a1 UTSW 19 46,659,459 (GRCm39) missense possibly damaging 0.88
Z1177:Cyp17a1 UTSW 19 46,661,098 (GRCm39) missense possibly damaging 0.95
Posted On 2015-04-16