Incidental Mutation 'IGL02282:Cyp2a4'
| ID |
289860 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Cyp2a4
|
| Ensembl Gene |
ENSMUSG00000074254 |
| Gene Name |
cytochrome P450, family 2, subfamily a, polypeptide 4 |
| Synonyms |
Cyp15a1, D7Ucla4, testosterone 15alpha-hydroxylase |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.092)
|
| Stock # |
IGL02282
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
26006617-26014513 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to C
at 26008472 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Leucine
at position 205
(M205L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000096254
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000098657]
|
| AlphaFold |
P15392 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000098657
AA Change: M205L
PolyPhen 2
Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000096254
Gene: ENSMUSG00000074254
AA Change: M205L
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
5 |
24 |
N/A |
INTRINSIC |
|
Pfam:p450
|
34 |
491 |
8.9e-151 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000206226
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ahnak |
A |
G |
19: 8,983,351 (GRCm39) |
D1545G |
probably damaging |
Het |
| Baiap3 |
A |
C |
17: 25,468,351 (GRCm39) |
D234E |
probably benign |
Het |
| Bltp2 |
C |
T |
11: 78,175,054 (GRCm39) |
P1730S |
probably benign |
Het |
| Cand1 |
T |
A |
10: 119,046,614 (GRCm39) |
T959S |
probably benign |
Het |
| Ctdspl2 |
A |
G |
2: 121,807,959 (GRCm39) |
|
probably benign |
Het |
| Dlx5 |
G |
A |
6: 6,881,762 (GRCm39) |
A42V |
probably damaging |
Het |
| Dnah7a |
A |
G |
1: 53,682,669 (GRCm39) |
I267T |
possibly damaging |
Het |
| Dnajb6 |
A |
G |
5: 29,957,416 (GRCm39) |
D66G |
probably damaging |
Het |
| Fgf8 |
T |
C |
19: 45,725,529 (GRCm39) |
H201R |
possibly damaging |
Het |
| Gpc1 |
A |
G |
1: 92,785,689 (GRCm39) |
K460E |
probably damaging |
Het |
| Gzme |
A |
T |
14: 56,355,826 (GRCm39) |
L162Q |
probably damaging |
Het |
| Ik |
G |
A |
18: 36,878,697 (GRCm39) |
G17D |
probably damaging |
Het |
| Il4 |
G |
A |
11: 53,509,001 (GRCm39) |
T59M |
probably damaging |
Het |
| Kcnh3 |
G |
T |
15: 99,125,924 (GRCm39) |
|
probably null |
Het |
| Mill1 |
G |
T |
7: 17,997,129 (GRCm39) |
|
probably null |
Het |
| Npbwr1 |
A |
T |
1: 5,987,184 (GRCm39) |
M110K |
possibly damaging |
Het |
| Opalin |
A |
T |
19: 41,054,943 (GRCm39) |
S84T |
probably benign |
Het |
| Or10w1 |
T |
A |
19: 13,632,622 (GRCm39) |
D276E |
probably damaging |
Het |
| Or7g30 |
A |
G |
9: 19,352,914 (GRCm39) |
Y235C |
probably benign |
Het |
| Or8b35 |
A |
T |
9: 37,904,318 (GRCm39) |
I177F |
probably damaging |
Het |
| Pcdhb11 |
T |
C |
18: 37,556,881 (GRCm39) |
L737P |
probably damaging |
Het |
| Phip |
G |
A |
9: 82,795,743 (GRCm39) |
S626L |
probably benign |
Het |
| Ppl |
T |
C |
16: 4,919,322 (GRCm39) |
D435G |
probably damaging |
Het |
| Prss37 |
A |
G |
6: 40,492,317 (GRCm39) |
V178A |
possibly damaging |
Het |
| Ptpn7 |
A |
G |
1: 135,062,572 (GRCm39) |
I104V |
probably damaging |
Het |
| Ptprn |
A |
G |
1: 75,229,800 (GRCm39) |
Y700H |
probably damaging |
Het |
| Rab11fip5 |
T |
A |
6: 85,314,534 (GRCm39) |
T555S |
probably damaging |
Het |
| Rfwd3 |
A |
T |
8: 112,020,614 (GRCm39) |
|
probably benign |
Het |
| Robo1 |
G |
A |
16: 72,539,026 (GRCm39) |
R41H |
probably damaging |
Het |
| Rps3 |
A |
G |
7: 99,128,479 (GRCm39) |
|
probably null |
Het |
| Ruvbl2 |
G |
A |
7: 45,074,589 (GRCm39) |
T183I |
probably benign |
Het |
| Sema4c |
A |
T |
1: 36,589,284 (GRCm39) |
|
probably null |
Het |
| Shoc1 |
A |
C |
4: 59,111,114 (GRCm39) |
Y53D |
unknown |
Het |
| Taar8b |
T |
A |
10: 23,967,453 (GRCm39) |
K247I |
possibly damaging |
Het |
| Tacr3 |
A |
T |
3: 134,566,834 (GRCm39) |
I236F |
probably benign |
Het |
| Ttc21b |
A |
G |
2: 66,022,081 (GRCm39) |
I1168T |
probably damaging |
Het |
| Ttc9b |
A |
T |
7: 27,355,336 (GRCm39) |
D202V |
probably damaging |
Het |
| Vmn2r26 |
T |
G |
6: 124,038,584 (GRCm39) |
C720G |
probably damaging |
Het |
| Vmn2r37 |
A |
G |
7: 9,209,761 (GRCm39) |
S584P |
probably benign |
Het |
| Wnk2 |
T |
A |
13: 49,221,601 (GRCm39) |
D1208V |
probably damaging |
Het |
| Zfp988 |
T |
A |
4: 147,416,125 (GRCm39) |
C186* |
probably null |
Het |
| Zp3 |
A |
G |
5: 136,013,205 (GRCm39) |
N179S |
possibly 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 |
|
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 |
|
R8231:Cyp2a4
|
UTSW |
7 |
26,012,362 (GRCm39) |
missense |
probably benign |
0.00 |
|
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 |
|
|
| Posted On |
2015-04-16 |
Incidental Mutation