Incidental Mutation 'IGL03168:Cyp2a4'
| ID |
411741 |
| 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: 0.090)
|
| Stock # |
IGL03168
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
26006617-26014513 bp(+) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
A to T
at 26012975 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000096254
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000098657]
|
| AlphaFold |
P15392 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000098657
|
| SMART Domains |
Protein: ENSMUSP00000096254
Gene: ENSMUSG00000074254
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
5 |
24 |
N/A |
INTRINSIC |
|
Pfam:p450
|
34 |
491 |
8.9e-151 |
PFAM |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Akr1c6 |
T |
C |
13: 4,486,280 (GRCm39) |
V29A |
probably benign |
Het |
| Ankk1 |
C |
A |
9: 49,327,068 (GRCm39) |
A704S |
possibly damaging |
Het |
| Aph1c |
G |
A |
9: 66,740,619 (GRCm39) |
|
probably benign |
Het |
| Arglu1 |
T |
A |
8: 8,733,960 (GRCm39) |
I119L |
probably benign |
Het |
| Brwd1 |
A |
T |
16: 95,818,877 (GRCm39) |
S1318R |
possibly damaging |
Het |
| Calhm4 |
C |
T |
10: 33,917,552 (GRCm39) |
V300I |
probably benign |
Het |
| Chd3 |
A |
G |
11: 69,239,741 (GRCm39) |
|
probably benign |
Het |
| Colq |
T |
C |
14: 31,246,377 (GRCm39) |
Y445C |
probably damaging |
Het |
| Cyp2j7 |
C |
T |
4: 96,118,274 (GRCm39) |
M106I |
probably benign |
Het |
| Erfe |
T |
G |
1: 91,299,164 (GRCm39) |
N302K |
probably damaging |
Het |
| Fggy |
A |
T |
4: 95,815,046 (GRCm39) |
|
probably benign |
Het |
| Gata3 |
A |
G |
2: 9,873,625 (GRCm39) |
Y290H |
probably damaging |
Het |
| Grik4 |
T |
C |
9: 42,582,539 (GRCm39) |
T136A |
probably damaging |
Het |
| Hc |
G |
T |
2: 34,914,210 (GRCm39) |
N832K |
probably benign |
Het |
| Jhy |
A |
T |
9: 40,828,848 (GRCm39) |
S353T |
possibly damaging |
Het |
| Krt40 |
T |
A |
11: 99,433,854 (GRCm39) |
Q44L |
possibly damaging |
Het |
| Ksr2 |
T |
C |
5: 117,886,846 (GRCm39) |
F794S |
probably damaging |
Het |
| Or2l13 |
A |
T |
16: 19,305,969 (GRCm39) |
H127L |
probably benign |
Het |
| Or2n1e |
A |
C |
17: 38,585,682 (GRCm39) |
S7R |
probably damaging |
Het |
| Or4p7 |
A |
G |
2: 88,221,938 (GRCm39) |
M116V |
probably damaging |
Het |
| Or5ac16 |
A |
G |
16: 59,022,610 (GRCm39) |
Y60H |
probably damaging |
Het |
| Or5t9 |
A |
G |
2: 86,659,607 (GRCm39) |
I170M |
possibly damaging |
Het |
| Or8b1c |
A |
G |
9: 38,384,315 (GRCm39) |
T91A |
probably benign |
Het |
| Pcdhb17 |
A |
G |
18: 37,618,825 (GRCm39) |
E205G |
probably benign |
Het |
| Pon3 |
A |
T |
6: 5,256,177 (GRCm39) |
I17K |
possibly damaging |
Het |
| Prkd2 |
A |
G |
7: 16,584,188 (GRCm39) |
D347G |
possibly damaging |
Het |
| Prkdc |
A |
G |
16: 15,652,030 (GRCm39) |
I3806V |
probably benign |
Het |
| Qpct |
C |
A |
17: 79,359,753 (GRCm39) |
A20E |
unknown |
Het |
| Rap1a |
A |
G |
3: 105,657,587 (GRCm39) |
S11P |
probably damaging |
Het |
| Rnf145 |
C |
A |
11: 44,445,985 (GRCm39) |
T273K |
probably damaging |
Het |
| Speg |
T |
C |
1: 75,364,831 (GRCm39) |
I298T |
probably damaging |
Het |
| Syt6 |
G |
A |
3: 103,494,943 (GRCm39) |
V303M |
probably damaging |
Het |
| Tpr |
A |
G |
1: 150,284,508 (GRCm39) |
I324M |
probably benign |
Het |
| Uggt2 |
A |
G |
14: 119,315,080 (GRCm39) |
F330L |
probably damaging |
Het |
| Unc45a |
A |
T |
7: 79,982,881 (GRCm39) |
L348Q |
probably damaging |
Het |
| Vmn1r17 |
T |
A |
6: 57,337,583 (GRCm39) |
I212F |
probably benign |
Het |
| Vmn2r68 |
A |
C |
7: 84,870,972 (GRCm39) |
N770K |
probably damaging |
Het |
| Zfhx3 |
T |
C |
8: 109,673,132 (GRCm39) |
V1394A |
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 |
|
|
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 |
2016-08-02 |
Incidental Mutation