Incidental Mutation 'IGL03336:Cyp17a1'
ID 417041
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 # IGL03336
Quality Score
Chromosome 19
Chromosomal Location 46655604-46661439 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 46659474 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Glycine at position 119 (S119G)
Ref Sequence ENSEMBL: ENSMUSP00000026012 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000026012]
AlphaFold P27786
Predicted Effect probably benign
Transcript: ENSMUST00000026012
AA Change: S119G

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000026012
Gene: ENSMUSG00000003555
AA Change: S119G

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: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933412E24Rik A G 15: 59,888,251 (GRCm39) V63A probably benign Het
Ankrd11 A G 8: 123,618,582 (GRCm39) S1757P probably benign Het
Atp8a1 G T 5: 67,887,150 (GRCm39) Y629* probably null Het
Cenpf T C 1: 189,384,844 (GRCm39) K2479E probably damaging Het
Clip1 G T 5: 123,791,633 (GRCm39) S179* probably null Het
Cmya5 A G 13: 93,230,013 (GRCm39) S1692P possibly damaging Het
Fndc5 T C 4: 129,033,711 (GRCm39) F160L probably benign Het
Muc5b T C 7: 141,418,100 (GRCm39) V3682A probably damaging Het
Myh8 G T 11: 67,175,528 (GRCm39) D328Y probably damaging Het
Or10a5 T A 7: 106,635,542 (GRCm39) M60K probably damaging Het
Or4c121 T C 2: 89,024,241 (GRCm39) T46A probably benign Het
Or51f1 C T 7: 102,505,823 (GRCm39) C222Y probably benign Het
Or51k2 T C 7: 103,596,616 (GRCm39) L281P probably damaging Het
Or6c203 T C 10: 129,010,098 (GRCm39) E264G probably benign Het
Paxbp1 T C 16: 90,831,060 (GRCm39) I439V probably benign Het
Pcdhb3 T C 18: 37,436,014 (GRCm39) V660A possibly damaging Het
Pcyt2 T C 11: 120,506,758 (GRCm39) D32G probably damaging Het
Pdzph1 A T 17: 59,281,229 (GRCm39) V351D probably benign Het
Ribc2 C T 15: 85,017,114 (GRCm39) Q51* probably null Het
Scn2a A G 2: 65,519,088 (GRCm39) E438G probably damaging Het
Slc18a3 T C 14: 32,184,785 (GRCm39) probably benign Het
Slc5a1 G A 5: 33,304,287 (GRCm39) V296I probably benign Het
Slit3 A T 11: 35,560,928 (GRCm39) T958S probably damaging Het
Spag8 C T 4: 43,652,114 (GRCm39) probably benign Het
Susd3 A C 13: 49,392,258 (GRCm39) S144R probably benign Het
Synpo2 T C 3: 122,907,828 (GRCm39) E496G possibly damaging Het
Tbcel T C 9: 42,350,427 (GRCm39) T269A probably benign Het
Tmem156 A G 5: 65,233,107 (GRCm39) Y152H probably benign Het
Tmem247 A G 17: 87,225,857 (GRCm39) E99G probably damaging Het
Tuba3b A G 6: 145,565,450 (GRCm39) D306G possibly damaging Het
Vps13c T A 9: 67,858,924 (GRCm39) D2791E possibly damaging Het
Ypel4 A G 2: 84,567,871 (GRCm39) Y98C probably damaging 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
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
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 2016-08-02