Incidental Mutation 'IGL01609:Cyp2a4'
ID |
91924 |
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 # |
IGL01609
|
Quality Score |
|
Status
|
|
Chromosome |
7 |
Chromosomal Location |
26006617-26014513 bp(+) (GRCm39) |
Type of Mutation |
critical splice donor site (1 bp from exon) |
DNA Base Change (assembly) |
G to A
at 26008088 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 null
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 |
|
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 |
Ablim3 |
A |
G |
18: 61,955,092 (GRCm39) |
V299A |
probably benign |
Het |
Actr5 |
T |
C |
2: 158,478,722 (GRCm39) |
|
probably null |
Het |
Arhgap18 |
A |
G |
10: 26,756,744 (GRCm39) |
D448G |
possibly damaging |
Het |
Bcl9 |
T |
C |
3: 97,116,291 (GRCm39) |
E801G |
probably benign |
Het |
Bin1 |
A |
G |
18: 32,552,978 (GRCm39) |
N232S |
probably damaging |
Het |
Brf1 |
A |
C |
12: 112,927,211 (GRCm39) |
Y459D |
probably damaging |
Het |
Clca4a |
T |
A |
3: 144,659,541 (GRCm39) |
I772F |
probably damaging |
Het |
Dync1i2 |
T |
A |
2: 71,077,352 (GRCm39) |
|
probably benign |
Het |
Frem3 |
T |
A |
8: 81,339,333 (GRCm39) |
M542K |
probably benign |
Het |
Gpbp1 |
T |
C |
13: 111,575,736 (GRCm39) |
T256A |
possibly damaging |
Het |
Ighm |
T |
C |
12: 113,384,854 (GRCm39) |
|
probably benign |
Het |
Igkv3-12 |
A |
G |
6: 70,495,232 (GRCm39) |
|
probably benign |
Het |
Kdm4d |
A |
G |
9: 14,375,714 (GRCm39) |
V48A |
probably damaging |
Het |
Lama2 |
T |
C |
10: 27,220,417 (GRCm39) |
S483G |
probably benign |
Het |
Lbp |
A |
C |
2: 158,170,332 (GRCm39) |
Q464P |
probably damaging |
Het |
Lipo4 |
T |
C |
19: 33,476,654 (GRCm39) |
T365A |
probably benign |
Het |
Mark3 |
T |
C |
12: 111,593,956 (GRCm39) |
F274S |
probably damaging |
Het |
Mcm3 |
A |
T |
1: 20,884,904 (GRCm39) |
|
probably benign |
Het |
Mrpl9 |
T |
A |
3: 94,352,001 (GRCm39) |
F137I |
probably damaging |
Het |
Msh4 |
G |
T |
3: 153,603,034 (GRCm39) |
A93E |
probably damaging |
Het |
Mthfd1l |
T |
A |
10: 3,968,567 (GRCm39) |
D407E |
probably benign |
Het |
Or10j7 |
G |
A |
1: 173,011,843 (GRCm39) |
H53Y |
probably benign |
Het |
Or12d12 |
C |
T |
17: 37,610,629 (GRCm39) |
R228H |
probably benign |
Het |
Or1i2 |
A |
C |
10: 78,447,960 (GRCm39) |
S172A |
probably benign |
Het |
Pcsk2 |
G |
T |
2: 143,643,078 (GRCm39) |
V452L |
possibly damaging |
Het |
Pcsk6 |
G |
A |
7: 65,685,021 (GRCm39) |
|
probably null |
Het |
Pmfbp1 |
A |
G |
8: 110,254,348 (GRCm39) |
E461G |
probably benign |
Het |
Pole2 |
A |
G |
12: 69,254,631 (GRCm39) |
|
probably null |
Het |
Postn |
T |
C |
3: 54,276,649 (GRCm39) |
M176T |
probably damaging |
Het |
Prss12 |
T |
A |
3: 123,276,483 (GRCm39) |
C371S |
probably damaging |
Het |
Rnf11 |
T |
A |
4: 109,314,173 (GRCm39) |
Q72L |
possibly damaging |
Het |
Rrad |
A |
G |
8: 105,356,456 (GRCm39) |
|
probably null |
Het |
Slitrk3 |
T |
A |
3: 72,957,570 (GRCm39) |
I401F |
probably damaging |
Het |
Themis |
A |
G |
10: 28,544,749 (GRCm39) |
|
probably benign |
Het |
Tmem45a |
A |
G |
16: 56,631,928 (GRCm39) |
I230T |
probably benign |
Het |
Tnni1 |
C |
A |
1: 135,733,234 (GRCm39) |
|
probably null |
Het |
Trpa1 |
A |
T |
1: 14,982,607 (GRCm39) |
I83N |
probably damaging |
Het |
Uggt1 |
T |
C |
1: 36,221,555 (GRCm39) |
Y54C |
probably damaging |
Het |
Umodl1 |
C |
T |
17: 31,217,800 (GRCm39) |
T1202I |
possibly damaging |
Het |
Unc93a2 |
A |
G |
17: 7,637,138 (GRCm39) |
V130A |
probably damaging |
Het |
Usp37 |
G |
A |
1: 74,514,199 (GRCm39) |
A324V |
probably benign |
Het |
Zfp808 |
T |
A |
13: 62,321,023 (GRCm39) |
C751S |
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 |
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 |
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 |
2013-12-09 |