Incidental Mutation 'IGL02883:Cyp17a1'
ID 362894
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 # IGL02883
Quality Score
Status
Chromosome 19
Chromosomal Location 46655604-46661439 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 46657790 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Serine at position 254 (N254S)
Ref Sequence ENSEMBL: ENSMUSP00000026012 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000026012]
AlphaFold P27786
Predicted Effect probably benign
Transcript: ENSMUST00000026012
AA Change: N254S

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000026012
Gene: ENSMUSG00000003555
AA Change: N254S

DomainStartEndE-ValueType
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: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1810055G02Rik C A 19: 3,766,972 (GRCm39) S186R possibly damaging Het
Acap2 A G 16: 30,915,163 (GRCm39) probably benign Het
Cacna1h G T 17: 25,599,506 (GRCm39) R1726S probably damaging Het
Cdca2 T C 14: 67,944,946 (GRCm39) S133G probably damaging Het
Cep295nl A T 11: 118,224,735 (GRCm39) S36R probably benign Het
Crispld1 A G 1: 17,817,013 (GRCm39) N190S possibly damaging Het
Crtam A G 9: 40,905,797 (GRCm39) V44A probably benign Het
Crtc1 C T 8: 70,858,775 (GRCm39) G112S probably benign Het
Dmrta1 T C 4: 89,577,011 (GRCm39) S156P probably benign Het
Eno2 A C 6: 124,743,172 (GRCm39) V188G probably damaging Het
Fam20a A T 11: 109,565,953 (GRCm39) I427N probably damaging Het
Fat2 T C 11: 55,147,444 (GRCm39) K3933E probably benign Het
Igkv8-30 T C 6: 70,094,601 (GRCm39) M1V probably null Het
Ist1 G A 8: 110,410,300 (GRCm39) probably benign Het
Kank4 T C 4: 98,661,690 (GRCm39) E765G possibly damaging Het
Kat14 T C 2: 144,235,449 (GRCm39) L92S probably damaging Het
Kcnu1 G A 8: 26,339,855 (GRCm39) V58I probably benign Het
Lrba T A 3: 86,261,513 (GRCm39) V1489E probably damaging Het
Lrba T A 3: 86,352,720 (GRCm39) I1956N probably damaging Het
Mdn1 G A 4: 32,763,199 (GRCm39) V5100I probably benign Het
Mkrn2os C A 6: 115,563,670 (GRCm39) G122* probably null Het
Nme3 T C 17: 25,115,880 (GRCm39) Y78H probably benign Het
Pira13 A G 7: 3,825,179 (GRCm39) S488P possibly damaging Het
Pkd1l2 G A 8: 117,792,484 (GRCm39) T436I probably benign Het
Ppp2r5c T G 12: 110,488,997 (GRCm39) V56G possibly damaging Het
Pramel16 T C 4: 143,676,418 (GRCm39) T229A possibly damaging Het
Prdm10 G A 9: 31,238,644 (GRCm39) V179M probably damaging Het
Rab11fip2 A G 19: 59,895,430 (GRCm39) V344A probably damaging Het
Selp G A 1: 163,957,671 (GRCm39) A267T probably benign Het
Sf3a1 T A 11: 4,129,192 (GRCm39) W718R probably damaging Het
Taar9 T C 10: 23,985,378 (GRCm39) N19D probably benign Het
Tas2r113 T G 6: 132,870,382 (GRCm39) S137A probably damaging Het
Traf4 A T 11: 78,052,447 (GRCm39) I66N possibly damaging Het
Ucp3 A T 7: 100,129,849 (GRCm39) T164S probably benign Het
Uggt1 A T 1: 36,216,696 (GRCm39) N96K probably benign Het
Uqcc1 T A 2: 155,753,749 (GRCm39) Q42L possibly damaging Het
Vmn1r128 A G 7: 21,083,440 (GRCm39) K48R 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
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
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 2015-12-18