Incidental Mutation 'IGL01839:Cyp17a1'
ID 155047
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 # IGL01839
Quality Score
Chromosome 19
Chromosomal Location 46655604-46661439 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 46659110 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Threonine at position 177 (I177T)
Ref Sequence ENSEMBL: ENSMUSP00000026012 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000026012]
AlphaFold P27786
Predicted Effect possibly damaging
Transcript: ENSMUST00000026012
AA Change: I177T

PolyPhen 2 Score 0.895 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000026012
Gene: ENSMUSG00000003555
AA Change: I177T

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000182599
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: 27 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam6a T A 12: 113,508,242 (GRCm39) L205Q probably benign Het
Cadps G T 14: 12,467,184 (GRCm38) probably benign Het
Cfap69 G A 5: 5,676,027 (GRCm39) Q223* probably null Het
Col11a2 G A 17: 34,283,056 (GRCm39) probably benign Het
Col3a1 T C 1: 45,350,990 (GRCm39) V28A unknown Het
Exoc2 A G 13: 31,090,782 (GRCm39) L274P probably damaging Het
Fastkd3 A G 13: 68,732,971 (GRCm39) R431G probably benign Het
Fat3 T C 9: 15,909,168 (GRCm39) N2278S probably damaging Het
Ift172 G T 5: 31,423,694 (GRCm39) A756E probably damaging Het
Igf2r T C 17: 12,923,909 (GRCm39) Y1087C probably damaging Het
Khdrbs2 T C 1: 32,453,943 (GRCm39) probably benign Het
Kmt5a A G 5: 124,589,417 (GRCm39) K205R probably benign Het
Lrrc45 A T 11: 120,607,975 (GRCm39) probably null Het
Ltbp2 T C 12: 84,840,432 (GRCm39) S1045G possibly damaging Het
Nfib T C 4: 82,228,607 (GRCm39) M505V probably benign Het
Oit3 C T 10: 59,265,318 (GRCm39) V316I probably damaging Het
Or1e1f T A 11: 73,855,437 (GRCm39) M1K probably null Het
Or5b119 T C 19: 13,456,804 (GRCm39) T253A probably benign Het
Pcdhb5 A T 18: 37,454,502 (GRCm39) N294I probably damaging Het
Pld4 A T 12: 112,731,513 (GRCm39) H222L probably damaging Het
Sacs T C 14: 61,421,394 (GRCm39) probably benign Het
Sgms2 T C 3: 131,135,751 (GRCm39) K41R possibly damaging Het
Slc22a4 A T 11: 53,886,903 (GRCm39) S280T probably damaging Het
Slc34a1 T C 13: 23,996,668 (GRCm39) S58P possibly damaging Het
Slc7a15 C T 12: 8,589,365 (GRCm39) G61S probably damaging Het
Trrap A G 5: 144,758,685 (GRCm39) K2190E probably damaging Het
Ttn C A 2: 76,644,702 (GRCm39) Q13017H probably damaging Het
Other mutations in Cyp17a1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01524:Cyp17a1 APN 19 46,659,495 (GRCm39) missense probably benign 0.00
IGL01901:Cyp17a1 APN 19 46,659,531 (GRCm39) missense possibly damaging 0.64
IGL02033:Cyp17a1 APN 19 46,661,046 (GRCm39) nonsense probably null
IGL02349:Cyp17a1 APN 19 46,655,936 (GRCm39) missense probably damaging 1.00
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 2014-02-04