Incidental Mutation 'IGL02033:Cyp17a1'
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cyp17a1
Ensembl Gene ENSMUSG00000003555
Gene Namecytochrome P450, family 17, subfamily a, polypeptide 1
Synonymssteroid 17-alpha hydroxylase, p450c17, Cyp17
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.158) question?
Stock #IGL02033
Quality Score
Chromosomal Location46667165-46672974 bp(-) (GRCm38)
Type of Mutationnonsense
DNA Base Change (assembly) A to T at 46672607 bp
Amino Acid Change Tyrosine to Stop codon at position 79 (Y79*)
Ref Sequence ENSEMBL: ENSMUSP00000026012 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000026012]
Predicted Effect probably null
Transcript: ENSMUST00000026012
AA Change: Y79*
SMART Domains Protein: ENSMUSP00000026012
Gene: ENSMUSG00000003555
AA Change: Y79*

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
2210408I21Rik T A 13: 77,259,876 F107L possibly damaging Het
Adam30 G T 3: 98,161,471 V79F probably benign Het
Akap8l T C 17: 32,338,272 R122G probably damaging Het
Apc T A 18: 34,310,719 S570R probably damaging Het
BC027072 T A 17: 71,751,081 I534F probably damaging Het
Btnl10 A G 11: 58,919,315 E94G probably damaging Het
Col25a1 A T 3: 130,388,948 probably benign Het
Cubn A C 2: 13,339,846 I2208S probably damaging Het
Dach1 T A 14: 97,901,429 H474L possibly damaging Het
Dscaml1 A T 9: 45,683,782 I728F probably damaging Het
Erp29 G T 5: 121,452,242 S33R probably benign Het
Fat3 A C 9: 15,915,352 S4435A possibly damaging Het
Fbxw13 T C 9: 109,181,416 I385V probably damaging Het
Hspg2 T C 4: 137,552,254 M3160T probably benign Het
Lrrc28 C T 7: 67,559,857 probably null Het
Myh15 T C 16: 49,145,344 V1204A probably benign Het
Olfr1457 T C 19: 13,094,857 S91G possibly damaging Het
Pde5a G A 3: 122,803,061 E434K possibly damaging Het
Pgr T A 9: 8,965,110 V753E probably damaging Het
Pik3c3 T A 18: 30,312,650 S563R possibly damaging Het
Ppt2 A G 17: 34,625,754 probably benign Het
Prg4 T A 1: 150,455,868 probably benign Het
Pygo1 G T 9: 72,945,401 S290I possibly damaging Het
Ralgapa1 G T 12: 55,642,477 H1946N possibly damaging Het
Rap1gds1 A G 3: 138,955,471 probably benign Het
Sema4g G A 19: 44,997,415 R256H probably damaging Het
Slc22a12 T G 19: 6,537,814 D370A probably benign Het
Spata16 G A 3: 26,913,334 probably null Het
Trim44 A G 2: 102,400,176 M170T possibly damaging Het
Trpv6 A T 6: 41,627,617 probably benign Het
Vwa8 T G 14: 78,984,209 L535R possibly damaging Het
Wdr78 G T 4: 103,066,293 N123K possibly damaging Het
Other mutations in Cyp17a1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01524:Cyp17a1 APN 19 46671056 missense probably benign 0.00
IGL01839:Cyp17a1 APN 19 46670671 missense possibly damaging 0.89
IGL01901:Cyp17a1 APN 19 46671092 missense possibly damaging 0.64
IGL02349:Cyp17a1 APN 19 46667497 missense probably damaging 1.00
IGL02663:Cyp17a1 APN 19 46672566 missense probably damaging 1.00
IGL02883:Cyp17a1 APN 19 46669351 missense probably benign 0.00
IGL03092:Cyp17a1 APN 19 46672611 missense possibly damaging 0.79
IGL03239:Cyp17a1 APN 19 46667357 missense probably damaging 1.00
IGL03336:Cyp17a1 APN 19 46671035 missense probably benign 0.00
R3773:Cyp17a1 UTSW 19 46669723 missense probably damaging 0.97
R4445:Cyp17a1 UTSW 19 46668023 missense probably damaging 1.00
R4446:Cyp17a1 UTSW 19 46668023 missense probably damaging 1.00
R4572:Cyp17a1 UTSW 19 46670551 missense probably damaging 1.00
R5544:Cyp17a1 UTSW 19 46672654 missense probably damaging 1.00
R5730:Cyp17a1 UTSW 19 46672656 missense possibly damaging 0.49
R6163:Cyp17a1 UTSW 19 46669322 missense possibly damaging 0.69
R6271:Cyp17a1 UTSW 19 46672720 missense probably benign 0.17
R6728:Cyp17a1 UTSW 19 46669234 missense probably benign
R6729:Cyp17a1 UTSW 19 46670581 missense probably benign
R7025:Cyp17a1 UTSW 19 46670980 missense probably damaging 0.98
R7395:Cyp17a1 UTSW 19 46670695 missense probably benign
R8056:Cyp17a1 UTSW 19 46670591 missense possibly damaging 0.95
R8308:Cyp17a1 UTSW 19 46668077 missense probably benign 0.09
R8735:Cyp17a1 UTSW 19 46671094 critical splice acceptor site probably null
R8737:Cyp17a1 UTSW 19 46669727 missense probably benign 0.09
X0020:Cyp17a1 UTSW 19 46671020 missense possibly damaging 0.88
Z1177:Cyp17a1 UTSW 19 46672659 missense possibly damaging 0.95
Posted On2014-05-07