Incidental Mutation 'R8430:Cyp20a1'
| ID |
653684 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cyp20a1
|
| Ensembl Gene |
ENSMUSG00000049439 |
| Gene Name |
cytochrome P450, family 20, subfamily a, polypeptide 1 |
| Synonyms |
A930011N14Rik |
| MMRRC Submission |
067775-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8430 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
1 |
| Chromosomal Location |
60382482-60427219 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 60402488 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 191
(V191A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000050823
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000060608]
[ENSMUST00000148443]
|
| AlphaFold |
Q8BKE6 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000060608
AA Change: V191A
PolyPhen 2
Score 0.903 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000050823
Gene: ENSMUSG00000049439
AA Change: V191A
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
5 |
24 |
N/A |
INTRINSIC |
|
Pfam:p450
|
40 |
456 |
1.5e-46 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000148443
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.1%
|
| 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 that catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This protein lacks one amino acid of the conserved heme binding site. It also lacks the conserved I-helix motif AGX(D,E)T, suggesting that its substrate may carry its own oxygen. [provided by RefSeq, Jul 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aass |
G |
A |
6: 23,078,981 (GRCm39) |
T677I |
probably benign |
Het |
| Adh4 |
T |
G |
3: 138,128,145 (GRCm39) |
N190K |
probably damaging |
Het |
| Ahnak2 |
A |
T |
12: 112,741,121 (GRCm39) |
S984T |
possibly damaging |
Het |
| Aknad1 |
A |
G |
3: 108,659,037 (GRCm39) |
D17G |
possibly damaging |
Het |
| Ankrd11 |
T |
C |
8: 123,620,105 (GRCm39) |
N1249S |
probably benign |
Het |
| Ankrd31 |
A |
G |
13: 96,988,199 (GRCm39) |
K1071E |
possibly damaging |
Het |
| Atp1a3 |
A |
G |
7: 24,698,437 (GRCm39) |
L120P |
probably damaging |
Het |
| AU040320 |
C |
A |
4: 126,742,693 (GRCm39) |
A986E |
possibly damaging |
Het |
| Camkv |
T |
C |
9: 107,824,968 (GRCm39) |
M323T |
probably damaging |
Het |
| Cdh18 |
T |
G |
15: 23,226,770 (GRCm39) |
L77R |
probably damaging |
Het |
| Col24a1 |
C |
T |
3: 145,021,060 (GRCm39) |
T477M |
probably damaging |
Het |
| Cpeb3 |
A |
T |
19: 37,002,406 (GRCm39) |
F669I |
probably damaging |
Het |
| Cramp1 |
A |
T |
17: 25,196,536 (GRCm39) |
H859Q |
probably damaging |
Het |
| Csnk1g1 |
C |
A |
9: 65,906,803 (GRCm39) |
T140K |
probably damaging |
Het |
| Ctnnbl1 |
A |
G |
2: 157,678,603 (GRCm39) |
E402G |
probably damaging |
Het |
| Dkk3 |
A |
G |
7: 111,720,853 (GRCm39) |
Y158H |
probably damaging |
Het |
| Fgfr2 |
T |
C |
7: 129,765,708 (GRCm39) |
N835S |
probably damaging |
Het |
| Fggy |
GCACCA |
GCA |
4: 95,815,002 (GRCm39) |
|
probably benign |
Het |
| Gpatch1 |
G |
A |
7: 35,007,634 (GRCm39) |
T142M |
probably damaging |
Het |
| Gtf3c2 |
G |
A |
5: 31,330,403 (GRCm39) |
A189V |
probably damaging |
Het |
| Heatr5b |
T |
C |
17: 79,137,053 (GRCm39) |
I156V |
probably damaging |
Het |
| Itpka |
T |
A |
2: 119,580,035 (GRCm39) |
V258E |
probably damaging |
Het |
| Klhdc4 |
A |
G |
8: 122,526,252 (GRCm39) |
S327P |
possibly damaging |
Het |
| L1td1 |
C |
T |
4: 98,626,109 (GRCm39) |
T702I |
probably damaging |
Het |
| Lap3 |
A |
G |
5: 45,654,726 (GRCm39) |
D110G |
probably benign |
Het |
| Mab21l1 |
C |
A |
3: 55,690,830 (GRCm39) |
A139E |
probably damaging |
Het |
| Myo15b |
G |
A |
11: 115,773,049 (GRCm39) |
V173M |
probably benign |
Het |
| Or12e1 |
T |
G |
2: 87,022,564 (GRCm39) |
S178A |
possibly damaging |
Het |
| Or2a57 |
G |
A |
6: 43,212,894 (GRCm39) |
M117I |
probably benign |
Het |
| Or52ab4 |
G |
T |
7: 102,988,164 (GRCm39) |
R301L |
probably benign |
Het |
| Or5m10b |
A |
T |
2: 85,699,526 (GRCm39) |
M197L |
probably benign |
Het |
| Rdh7 |
A |
G |
10: 127,723,495 (GRCm39) |
I120T |
probably benign |
Het |
| Rsph3a |
G |
T |
17: 8,171,403 (GRCm39) |
G173W |
probably damaging |
Het |
| Sec22b |
T |
C |
3: 97,828,546 (GRCm39) |
F203S |
probably benign |
Het |
| Sulf2 |
C |
T |
2: 165,916,736 (GRCm39) |
G867E |
probably benign |
Het |
| Tia1 |
A |
T |
6: 86,395,906 (GRCm39) |
D90V |
probably benign |
Het |
| Tiam2 |
A |
G |
17: 3,568,537 (GRCm39) |
D1561G |
probably benign |
Het |
| Trav9d-1 |
A |
G |
14: 53,030,217 (GRCm39) |
Y107C |
probably damaging |
Het |
| Trim32 |
T |
C |
4: 65,532,943 (GRCm39) |
V500A |
probably damaging |
Het |
| Ube2f |
G |
A |
1: 91,181,989 (GRCm39) |
|
probably benign |
Het |
| Ulk4 |
C |
T |
9: 121,086,144 (GRCm39) |
|
probably null |
Het |
| Zfp940 |
A |
G |
7: 29,544,771 (GRCm39) |
F379L |
probably benign |
Het |
|
| Other mutations in Cyp20a1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02146:Cyp20a1
|
APN |
1 |
60,410,410 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
IGL02725:Cyp20a1
|
APN |
1 |
60,405,865 (GRCm39) |
missense |
probably benign |
0.08 |
|
IGL03394:Cyp20a1
|
APN |
1 |
60,405,840 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0003:Cyp20a1
|
UTSW |
1 |
60,426,285 (GRCm39) |
splice site |
probably benign |
|
|
R0098:Cyp20a1
|
UTSW |
1 |
60,426,413 (GRCm39) |
nonsense |
probably null |
|
|
R0098:Cyp20a1
|
UTSW |
1 |
60,426,413 (GRCm39) |
nonsense |
probably null |
|
|
R0217:Cyp20a1
|
UTSW |
1 |
60,382,625 (GRCm39) |
splice site |
probably benign |
|
|
R0491:Cyp20a1
|
UTSW |
1 |
60,410,486 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R1543:Cyp20a1
|
UTSW |
1 |
60,415,353 (GRCm39) |
splice site |
probably benign |
|
|
R4519:Cyp20a1
|
UTSW |
1 |
60,426,306 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4621:Cyp20a1
|
UTSW |
1 |
60,415,258 (GRCm39) |
missense |
probably benign |
|
|
R4930:Cyp20a1
|
UTSW |
1 |
60,405,878 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4980:Cyp20a1
|
UTSW |
1 |
60,402,373 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5088:Cyp20a1
|
UTSW |
1 |
60,402,509 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5356:Cyp20a1
|
UTSW |
1 |
60,418,546 (GRCm39) |
missense |
probably benign |
0.08 |
|
R5545:Cyp20a1
|
UTSW |
1 |
60,415,241 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R5897:Cyp20a1
|
UTSW |
1 |
60,392,220 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5926:Cyp20a1
|
UTSW |
1 |
60,402,401 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
R6317:Cyp20a1
|
UTSW |
1 |
60,391,283 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6320:Cyp20a1
|
UTSW |
1 |
60,391,331 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7471:Cyp20a1
|
UTSW |
1 |
60,393,799 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7681:Cyp20a1
|
UTSW |
1 |
60,392,192 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7715:Cyp20a1
|
UTSW |
1 |
60,411,764 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8033:Cyp20a1
|
UTSW |
1 |
60,411,750 (GRCm39) |
missense |
probably benign |
0.02 |
|
R8259:Cyp20a1
|
UTSW |
1 |
60,391,330 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8676:Cyp20a1
|
UTSW |
1 |
60,418,579 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R8748:Cyp20a1
|
UTSW |
1 |
60,392,181 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8885:Cyp20a1
|
UTSW |
1 |
60,411,765 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
R8935:Cyp20a1
|
UTSW |
1 |
60,410,473 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R9171:Cyp20a1
|
UTSW |
1 |
60,415,343 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:Cyp20a1
|
UTSW |
1 |
60,392,169 (GRCm39) |
missense |
probably damaging |
0.96 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACATGGCCATCTTACTGAATCC -3'
(R):5'- CAGATACTTAAATCTTGAGGCACAC -3'
Sequencing Primer
(F):5'- GGCCATCTTACTGAATCCCTTGTAAG -3'
(R):5'- CTTAAATCTTGAGGCACACAGCTGG -3'
|
| Posted On |
2020-10-20 |
Incidental Mutation