Incidental Mutation 'R5730:Cyp17a1'
| ID |
452739 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cyp17a1
|
| Ensembl Gene |
ENSMUSG00000003555 |
| Gene Name |
cytochrome P450, family 17, subfamily a, polypeptide 1 |
| Synonyms |
p450c17, Cyp17, steroid 17-alpha hydroxylase |
| MMRRC Submission |
043191-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.185)
|
| Stock # |
R5730 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
19 |
| Chromosomal Location |
46655604-46661439 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 46661095 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Threonine
at position 63
(I63T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000026012
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000026012]
|
| AlphaFold |
P27786 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000026012
AA Change: I63T
PolyPhen 2
Score 0.487 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000026012
Gene: ENSMUSG00000003555
AA Change: I63T
| Domain | Start | End | E-Value | Type |
|---|
|
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 |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 95.1%
|
| 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: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ahnak |
T |
C |
19: 8,987,617 (GRCm39) |
V2967A |
possibly damaging |
Het |
| Apaf1 |
A |
T |
10: 90,856,633 (GRCm39) |
I858K |
possibly damaging |
Het |
| Baiap3 |
T |
C |
17: 25,466,498 (GRCm39) |
T466A |
probably benign |
Het |
| Brca2 |
T |
A |
5: 150,492,470 (GRCm39) |
S3162T |
possibly damaging |
Het |
| Brd1 |
T |
G |
15: 88,601,248 (GRCm39) |
N462T |
probably benign |
Het |
| Carm1 |
G |
A |
9: 21,491,636 (GRCm39) |
R235H |
probably benign |
Het |
| Cd80 |
T |
C |
16: 38,303,097 (GRCm39) |
|
probably null |
Het |
| Clip4 |
A |
G |
17: 72,117,954 (GRCm39) |
Y333C |
probably damaging |
Het |
| Col7a1 |
T |
C |
9: 108,801,310 (GRCm39) |
|
probably null |
Het |
| Csmd1 |
G |
A |
8: 16,235,206 (GRCm39) |
Q1206* |
probably null |
Het |
| Diaph1 |
A |
G |
18: 38,036,829 (GRCm39) |
Y119H |
unknown |
Het |
| Dst |
T |
G |
1: 34,156,607 (GRCm39) |
|
probably null |
Het |
| Fgfr1 |
A |
G |
8: 26,063,827 (GRCm39) |
T785A |
probably damaging |
Het |
| Gm1553 |
A |
G |
10: 82,323,945 (GRCm39) |
F94S |
unknown |
Het |
| Gpbar1 |
A |
G |
1: 74,318,195 (GRCm39) |
N146S |
probably damaging |
Het |
| Gpc5 |
A |
G |
14: 116,025,726 (GRCm39) |
T588A |
possibly damaging |
Het |
| Gramd2a |
A |
G |
9: 59,618,489 (GRCm39) |
H9R |
probably damaging |
Het |
| Klk1b11 |
G |
A |
7: 43,424,199 (GRCm39) |
S6N |
probably benign |
Het |
| Lrp1 |
A |
G |
10: 127,419,703 (GRCm39) |
S969P |
probably benign |
Het |
| Lyz2 |
G |
T |
10: 117,114,587 (GRCm39) |
A114E |
probably damaging |
Het |
| Madd |
T |
C |
2: 90,988,454 (GRCm39) |
D1193G |
probably damaging |
Het |
| Mrpl39 |
C |
T |
16: 84,529,322 (GRCm39) |
G107R |
probably damaging |
Het |
| Mthfd2 |
C |
T |
6: 83,294,441 (GRCm39) |
R24H |
probably benign |
Het |
| Or2q1 |
C |
T |
6: 42,795,094 (GRCm39) |
R230* |
probably null |
Het |
| Or4a68 |
T |
C |
2: 89,269,780 (GRCm39) |
N281S |
probably damaging |
Het |
| Ovch2 |
A |
G |
7: 107,392,606 (GRCm39) |
C246R |
probably damaging |
Het |
| Phf14 |
A |
T |
6: 11,953,319 (GRCm39) |
I353F |
possibly damaging |
Het |
| Ppp2r5a |
C |
T |
1: 191,104,732 (GRCm39) |
V105I |
probably benign |
Het |
| Prr14l |
T |
C |
5: 32,950,947 (GRCm39) |
T1949A |
probably damaging |
Het |
| Prss48 |
T |
G |
3: 85,904,563 (GRCm39) |
M212L |
possibly damaging |
Het |
| Pstk |
A |
T |
7: 130,975,503 (GRCm39) |
D152V |
probably damaging |
Het |
| Scn2a |
C |
A |
2: 65,512,882 (GRCm39) |
S214* |
probably null |
Het |
| Scn3a |
T |
G |
2: 65,325,604 (GRCm39) |
N971T |
probably benign |
Het |
| Syne3 |
T |
C |
12: 104,927,713 (GRCm39) |
I250V |
probably benign |
Het |
| Synpo2 |
T |
C |
3: 122,907,768 (GRCm39) |
D516G |
probably benign |
Het |
| Tcea3 |
T |
C |
4: 135,992,204 (GRCm39) |
V209A |
probably benign |
Het |
| Tnr |
A |
G |
1: 159,715,892 (GRCm39) |
S885G |
probably benign |
Het |
| Trak2 |
T |
C |
1: 58,960,966 (GRCm39) |
D188G |
probably damaging |
Het |
| Tubb1 |
A |
G |
2: 174,299,562 (GRCm39) |
I415V |
probably benign |
Het |
| Virma |
T |
A |
4: 11,542,154 (GRCm39) |
M1580K |
probably benign |
Het |
| Vmn1r120 |
A |
T |
7: 20,786,934 (GRCm39) |
I259N |
possibly damaging |
Het |
| Vmn1r64 |
G |
A |
7: 5,887,522 (GRCm39) |
T7I |
probably benign |
Het |
|
| Other mutations in Cyp17a1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH 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 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- CCCAGTTTAGAGGTTCGGTAG -3'
(R):5'- CTGCCATGTGGGAACTTGTG -3'
Sequencing Primer
(F):5'- GAGCAGTCCCACAAGTCTGATTTTG -3'
(R):5'- GTGGGTCTCTTGCTGCTCATC -3'
|
| Posted On |
2017-01-03 |
Incidental Mutation