Incidental Mutation 'IGL02663:Cyp17a1'
ID302629
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? Possibly non essential (E-score: 0.401) question?
Stock #IGL02663
Quality Score
Status
Chromosome19
Chromosomal Location46667165-46672974 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 46672566 bp
ZygosityHeterozygous
Amino Acid Change Phenylalanine to Serine at position 93 (F93S)
Ref Sequence ENSEMBL: ENSMUSP00000026012 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000026012]
Predicted Effect probably damaging
Transcript: ENSMUST00000026012
AA Change: F93S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000026012
Gene: ENSMUSG00000003555
AA Change: F93S

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: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Bcl9 A C 3: 97,205,332 F1269C probably damaging Het
Cdc20b T A 13: 113,056,131 probably null Het
Chrna1 A G 2: 73,574,316 probably benign Het
Creb5 A G 6: 53,680,961 H236R probably damaging Het
Cyp4a32 T A 4: 115,610,590 L257H probably damaging Het
Fahd1 C T 17: 24,849,504 G200R probably damaging Het
Ifit1 A G 19: 34,640,980 probably benign Het
Mfhas1 G T 8: 35,589,906 V512L probably damaging Het
Myh13 C T 11: 67,354,927 Q1095* probably null Het
Nfia A G 4: 98,041,619 T339A probably benign Het
Npas3 T C 12: 54,068,908 L840P probably damaging Het
Nsf T C 11: 103,930,815 T2A probably benign Het
Olfr116 A T 17: 37,624,044 I197K probably benign Het
Olfr1465 A G 19: 13,313,379 V302A probably benign Het
Olfr740 A G 14: 50,453,852 T267A probably benign Het
P2rx2 C T 5: 110,340,249 E480K possibly damaging Het
P2rx2 G T 5: 110,340,186 probably null Het
Ppp1r8 G A 4: 132,833,108 T94I probably damaging Het
S100a11 A T 3: 93,524,157 E33D probably damaging Het
Sec31b C A 19: 44,534,278 A92S probably damaging Het
Serpina3g C T 12: 104,239,140 T46I possibly damaging Het
Sgo2b A T 8: 63,943,114 I36N probably damaging Het
Slc35e1 A G 8: 72,488,209 L223P probably damaging Het
St14 T C 9: 31,100,382 probably null Het
Sult2a8 A G 7: 14,425,443 Y84H possibly damaging Het
Tas1r2 T C 4: 139,660,282 Y322H probably benign Het
Tmem59 T C 4: 107,197,541 L181P probably damaging Het
Trp73 A G 4: 154,062,506 probably null Het
Ube2h A G 6: 30,241,413 V86A probably damaging Het
Vmn2r22 A T 6: 123,649,158 H106Q probably benign Het
Wdr63 A T 3: 146,054,557 M692K possibly damaging Het
Xirp2 T C 2: 67,509,458 V681A 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
IGL02033:Cyp17a1 APN 19 46672607 nonsense probably null
IGL02349:Cyp17a1 APN 19 46667497 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 not run
X0020:Cyp17a1 UTSW 19 46671020 missense possibly damaging 0.88
Z1177:Cyp17a1 UTSW 19 46672659 missense not run
Posted On2015-04-16