Incidental Mutation 'R8231:Cyp2a4'
ID |
637143 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Cyp2a4
|
Ensembl Gene |
ENSMUSG00000074254 |
Gene Name |
cytochrome P450, family 2, subfamily a, polypeptide 4 |
Synonyms |
Cyp15a1, D7Ucla4, testosterone 15alpha-hydroxylase |
MMRRC Submission |
067663-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.092)
|
Stock # |
R8231 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
7 |
Chromosomal Location |
26006617-26014513 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 26012362 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Asparagine
at position 382
(D382N)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000096254
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000098657]
|
AlphaFold |
P15392 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000098657
AA Change: D382N
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
SMART Domains |
Protein: ENSMUSP00000096254 Gene: ENSMUSG00000074254 AA Change: D382N
Domain | Start | End | E-Value | Type |
transmembrane domain
|
5 |
24 |
N/A |
INTRINSIC |
Pfam:p450
|
34 |
491 |
8.9e-151 |
PFAM |
|
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.8%
- 10x: 99.4%
- 20x: 98.4%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 39 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcg8 |
C |
T |
17: 85,000,213 (GRCm39) |
R258C |
probably damaging |
Het |
Acsf2 |
C |
G |
11: 94,452,188 (GRCm39) |
E451D |
probably benign |
Het |
Adam34 |
A |
T |
8: 44,104,659 (GRCm39) |
S329T |
probably benign |
Het |
Adamts16 |
A |
G |
13: 70,925,599 (GRCm39) |
I535T |
probably damaging |
Het |
Atp6v0d2 |
A |
G |
4: 19,881,451 (GRCm39) |
F214S |
probably damaging |
Het |
Btg4 |
A |
G |
9: 51,027,868 (GRCm39) |
T13A |
possibly damaging |
Het |
Ccdc121 |
T |
A |
5: 31,643,551 (GRCm39) |
C94S |
probably benign |
Het |
Cplane1 |
T |
C |
15: 8,248,511 (GRCm39) |
Y1687H |
probably benign |
Het |
Csmd1 |
A |
T |
8: 16,747,939 (GRCm39) |
S271T |
possibly damaging |
Het |
Cul9 |
T |
C |
17: 46,831,427 (GRCm39) |
T1596A |
probably damaging |
Het |
Dbh |
C |
T |
2: 27,060,555 (GRCm39) |
R244C |
probably benign |
Het |
Dennd11 |
A |
T |
6: 40,395,546 (GRCm39) |
H187Q |
probably benign |
Het |
Dnajc2 |
T |
C |
5: 21,966,689 (GRCm39) |
K426R |
probably benign |
Het |
Dock4 |
T |
A |
12: 40,752,950 (GRCm39) |
M428K |
possibly damaging |
Het |
Duox2 |
A |
T |
2: 122,120,044 (GRCm39) |
M822K |
possibly damaging |
Het |
Golga5 |
T |
C |
12: 102,438,558 (GRCm39) |
V91A |
probably benign |
Het |
Gpatch2l |
T |
C |
12: 86,290,963 (GRCm39) |
S49P |
probably damaging |
Het |
Ints7 |
T |
A |
1: 191,328,465 (GRCm39) |
L246* |
probably null |
Het |
Kntc1 |
A |
G |
5: 123,920,959 (GRCm39) |
T926A |
possibly damaging |
Het |
Kyat1 |
T |
C |
2: 30,081,978 (GRCm39) |
T54A |
probably benign |
Het |
Megf6 |
C |
G |
4: 154,336,975 (GRCm39) |
C359W |
probably damaging |
Het |
Mlh3 |
A |
G |
12: 85,307,572 (GRCm39) |
|
probably null |
Het |
Neb |
C |
A |
2: 52,125,491 (GRCm39) |
|
probably null |
Het |
Nyap2 |
A |
T |
1: 81,169,846 (GRCm39) |
Q201L |
probably benign |
Het |
Pibf1 |
T |
G |
14: 99,423,997 (GRCm39) |
H523Q |
probably benign |
Het |
Piezo1 |
A |
G |
8: 123,232,836 (GRCm39) |
S133P |
|
Het |
Pnma8b |
T |
C |
7: 16,680,515 (GRCm39) |
C500R |
probably benign |
Het |
Ptpra |
A |
G |
2: 130,379,523 (GRCm39) |
N359S |
probably damaging |
Het |
Rce1 |
A |
T |
19: 4,675,078 (GRCm39) |
I112N |
probably damaging |
Het |
Rmdn1 |
T |
C |
4: 19,586,853 (GRCm39) |
Y104H |
probably benign |
Het |
Snx22 |
A |
T |
9: 65,975,480 (GRCm39) |
D96E |
probably benign |
Het |
Sox5 |
G |
T |
6: 143,974,014 (GRCm39) |
Q245K |
probably damaging |
Het |
Stat6 |
A |
G |
10: 127,482,842 (GRCm39) |
D21G |
possibly damaging |
Het |
Tbc1d15 |
T |
C |
10: 115,065,045 (GRCm39) |
Y180C |
probably damaging |
Het |
Tdrd6 |
T |
C |
17: 43,933,026 (GRCm39) |
T2058A |
probably damaging |
Het |
Thbs4 |
A |
T |
13: 92,911,352 (GRCm39) |
V277E |
probably benign |
Het |
Tmem255b |
A |
G |
8: 13,504,225 (GRCm39) |
D139G |
probably damaging |
Het |
Ttc27 |
C |
A |
17: 75,024,959 (GRCm39) |
T18K |
probably benign |
Het |
Zfp131 |
A |
G |
13: 120,237,348 (GRCm39) |
F337L |
probably damaging |
Het |
|
Other mutations in Cyp2a4 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01533:Cyp2a4
|
APN |
7 |
26,007,969 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01609:Cyp2a4
|
APN |
7 |
26,008,088 (GRCm39) |
critical splice donor site |
probably null |
|
IGL01959:Cyp2a4
|
APN |
7 |
26,007,133 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02282:Cyp2a4
|
APN |
7 |
26,008,472 (GRCm39) |
missense |
probably benign |
0.01 |
IGL03053:Cyp2a4
|
APN |
7 |
26,012,975 (GRCm39) |
splice site |
probably benign |
|
IGL03168:Cyp2a4
|
APN |
7 |
26,012,975 (GRCm39) |
splice site |
probably benign |
|
R0393:Cyp2a4
|
UTSW |
7 |
26,012,293 (GRCm39) |
missense |
possibly damaging |
0.67 |
R0453:Cyp2a4
|
UTSW |
7 |
26,012,258 (GRCm39) |
missense |
probably benign |
0.22 |
R0825:Cyp2a4
|
UTSW |
7 |
26,012,341 (GRCm39) |
missense |
probably benign |
0.07 |
R0948:Cyp2a4
|
UTSW |
7 |
26,010,213 (GRCm39) |
missense |
probably damaging |
1.00 |
R1215:Cyp2a4
|
UTSW |
7 |
26,014,226 (GRCm39) |
missense |
possibly damaging |
0.75 |
R1222:Cyp2a4
|
UTSW |
7 |
26,008,013 (GRCm39) |
missense |
possibly damaging |
0.70 |
R1374:Cyp2a4
|
UTSW |
7 |
26,012,348 (GRCm39) |
missense |
probably damaging |
0.99 |
R1473:Cyp2a4
|
UTSW |
7 |
26,014,188 (GRCm39) |
missense |
probably benign |
|
R1580:Cyp2a4
|
UTSW |
7 |
26,007,076 (GRCm39) |
missense |
possibly damaging |
0.91 |
R1768:Cyp2a4
|
UTSW |
7 |
26,012,197 (GRCm39) |
missense |
possibly damaging |
0.94 |
R1832:Cyp2a4
|
UTSW |
7 |
26,011,635 (GRCm39) |
missense |
probably damaging |
0.99 |
R1911:Cyp2a4
|
UTSW |
7 |
26,008,399 (GRCm39) |
missense |
possibly damaging |
0.85 |
R2080:Cyp2a4
|
UTSW |
7 |
26,007,962 (GRCm39) |
missense |
possibly damaging |
0.96 |
R2086:Cyp2a4
|
UTSW |
7 |
26,011,733 (GRCm39) |
missense |
probably damaging |
1.00 |
R2259:Cyp2a4
|
UTSW |
7 |
26,008,460 (GRCm39) |
missense |
probably damaging |
0.99 |
R2877:Cyp2a4
|
UTSW |
7 |
26,011,612 (GRCm39) |
missense |
possibly damaging |
0.95 |
R2878:Cyp2a4
|
UTSW |
7 |
26,011,612 (GRCm39) |
missense |
possibly damaging |
0.95 |
R3732:Cyp2a4
|
UTSW |
7 |
26,012,252 (GRCm39) |
missense |
probably damaging |
1.00 |
R3732:Cyp2a4
|
UTSW |
7 |
26,012,252 (GRCm39) |
missense |
probably damaging |
1.00 |
R3733:Cyp2a4
|
UTSW |
7 |
26,012,252 (GRCm39) |
missense |
probably damaging |
1.00 |
R3734:Cyp2a4
|
UTSW |
7 |
26,012,252 (GRCm39) |
missense |
probably damaging |
1.00 |
R3741:Cyp2a4
|
UTSW |
7 |
26,007,969 (GRCm39) |
missense |
probably damaging |
1.00 |
R4079:Cyp2a4
|
UTSW |
7 |
26,006,791 (GRCm39) |
missense |
probably benign |
0.22 |
R4297:Cyp2a4
|
UTSW |
7 |
26,006,793 (GRCm39) |
missense |
probably damaging |
0.96 |
R4785:Cyp2a4
|
UTSW |
7 |
26,012,300 (GRCm39) |
missense |
probably damaging |
1.00 |
R4998:Cyp2a4
|
UTSW |
7 |
26,006,786 (GRCm39) |
missense |
probably damaging |
1.00 |
R5297:Cyp2a4
|
UTSW |
7 |
26,011,629 (GRCm39) |
missense |
probably benign |
0.07 |
R5893:Cyp2a4
|
UTSW |
7 |
26,008,353 (GRCm39) |
missense |
probably damaging |
1.00 |
R5942:Cyp2a4
|
UTSW |
7 |
26,010,129 (GRCm39) |
critical splice acceptor site |
probably null |
|
R6262:Cyp2a4
|
UTSW |
7 |
26,011,655 (GRCm39) |
missense |
probably damaging |
0.99 |
R6612:Cyp2a4
|
UTSW |
7 |
26,008,072 (GRCm39) |
missense |
probably benign |
0.00 |
R6722:Cyp2a4
|
UTSW |
7 |
26,012,983 (GRCm39) |
missense |
probably benign |
0.04 |
R7064:Cyp2a4
|
UTSW |
7 |
26,011,732 (GRCm39) |
missense |
probably benign |
0.02 |
R7419:Cyp2a4
|
UTSW |
7 |
26,014,188 (GRCm39) |
missense |
probably benign |
0.00 |
R7562:Cyp2a4
|
UTSW |
7 |
26,012,321 (GRCm39) |
missense |
possibly damaging |
0.88 |
R8750:Cyp2a4
|
UTSW |
7 |
26,012,209 (GRCm39) |
missense |
probably benign |
0.00 |
R8789:Cyp2a4
|
UTSW |
7 |
26,007,106 (GRCm39) |
missense |
probably damaging |
1.00 |
R9129:Cyp2a4
|
UTSW |
7 |
26,014,136 (GRCm39) |
missense |
probably benign |
0.01 |
R9502:Cyp2a4
|
UTSW |
7 |
26,008,004 (GRCm39) |
missense |
probably benign |
0.01 |
R9523:Cyp2a4
|
UTSW |
7 |
26,011,688 (GRCm39) |
missense |
probably damaging |
1.00 |
Z1176:Cyp2a4
|
UTSW |
7 |
26,010,266 (GRCm39) |
missense |
probably damaging |
1.00 |
Z1176:Cyp2a4
|
UTSW |
7 |
26,006,748 (GRCm39) |
nonsense |
probably null |
|
|
Predicted Primers |
PCR Primer
(F):5'- TCTCAGCCAAGGTCCATGAG -3'
(R):5'- AGAGGCATGGAGTTAAAATTCCTGG -3'
Sequencing Primer
(F):5'- CCAAGGTCCATGAGGAGATTGATC -3'
(R):5'- AATTCCTGGGTGGGAAAGTATC -3'
|
Posted On |
2020-07-13 |