Incidental Mutation 'IGL01959:Cyp2a4'
| ID |
182310 |
| 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 # |
IGL01959
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
26006617-26014513 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 26007133 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Glutamic Acid
at position 80
(V80E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000096254
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000098657]
|
| AlphaFold |
P15392 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000098657
AA Change: V80E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000096254
Gene: ENSMUSG00000074254
AA Change: V80E
| 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: 47 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 9230009I02Rik |
T |
C |
11: 50,982,645 (GRCm39) |
|
noncoding transcript |
Het |
| Aip |
A |
G |
19: 4,171,397 (GRCm39) |
I13T |
probably damaging |
Het |
| Cacna2d1 |
C |
T |
5: 16,417,895 (GRCm39) |
P140S |
probably benign |
Het |
| Cald1 |
A |
G |
6: 34,730,403 (GRCm39) |
D40G |
probably damaging |
Het |
| Cep250 |
T |
A |
2: 155,825,279 (GRCm39) |
V1052E |
possibly damaging |
Het |
| Chd1 |
A |
G |
17: 15,962,435 (GRCm39) |
N731D |
probably damaging |
Het |
| Chml |
C |
T |
1: 175,515,166 (GRCm39) |
V252I |
probably benign |
Het |
| Cog8 |
T |
C |
8: 107,783,010 (GRCm39) |
Y93C |
probably damaging |
Het |
| Creld1 |
G |
A |
6: 113,469,794 (GRCm39) |
A399T |
probably damaging |
Het |
| Cyp2c37 |
T |
A |
19: 39,984,277 (GRCm39) |
L255* |
probably null |
Het |
| Cyp2d12 |
C |
A |
15: 82,439,545 (GRCm39) |
|
probably benign |
Het |
| Dimt1 |
A |
G |
13: 107,089,963 (GRCm39) |
I229V |
probably benign |
Het |
| Dsc1 |
G |
A |
18: 20,230,282 (GRCm39) |
T341I |
probably damaging |
Het |
| Ercc3 |
T |
A |
18: 32,390,411 (GRCm39) |
F567I |
probably damaging |
Het |
| Espl1 |
C |
A |
15: 102,214,097 (GRCm39) |
|
probably benign |
Het |
| Fcrl2 |
T |
C |
3: 87,166,939 (GRCm39) |
D18G |
probably damaging |
Het |
| Fnip1 |
T |
A |
11: 54,381,738 (GRCm39) |
S296R |
possibly damaging |
Het |
| Fzd5 |
C |
A |
1: 64,775,105 (GRCm39) |
A219S |
possibly damaging |
Het |
| Gbp7 |
A |
G |
3: 142,247,108 (GRCm39) |
|
probably benign |
Het |
| Gm3298 |
T |
C |
14: 5,018,731 (GRCm38) |
L162S |
probably damaging |
Het |
| Hspa1l |
A |
G |
17: 35,196,111 (GRCm39) |
E50G |
probably damaging |
Het |
| Ipo9 |
T |
C |
1: 135,348,093 (GRCm39) |
|
probably null |
Het |
| Kazn |
A |
G |
4: 141,878,195 (GRCm39) |
L185P |
probably damaging |
Het |
| Kcnh8 |
T |
C |
17: 53,141,635 (GRCm39) |
S293P |
probably damaging |
Het |
| Lrp1b |
T |
C |
2: 41,202,539 (GRCm39) |
T1191A |
probably damaging |
Het |
| Mnat1 |
A |
G |
12: 73,228,705 (GRCm39) |
|
probably benign |
Het |
| Msx2 |
C |
T |
13: 53,622,638 (GRCm39) |
|
probably benign |
Het |
| Ndufs2 |
T |
G |
1: 171,064,798 (GRCm39) |
I317L |
probably benign |
Het |
| Nms |
T |
C |
1: 38,981,006 (GRCm39) |
|
probably benign |
Het |
| Oosp3 |
T |
A |
19: 11,678,286 (GRCm39) |
F87L |
probably benign |
Het |
| Pask |
A |
G |
1: 93,262,329 (GRCm39) |
V177A |
probably benign |
Het |
| Poldip2 |
G |
T |
11: 78,403,133 (GRCm39) |
|
probably benign |
Het |
| Prr14l |
A |
T |
5: 32,987,549 (GRCm39) |
S649T |
possibly damaging |
Het |
| Slc6a18 |
T |
A |
13: 73,825,984 (GRCm39) |
N22I |
probably damaging |
Het |
| Smco2 |
T |
A |
6: 146,763,208 (GRCm39) |
S228T |
probably benign |
Het |
| Speer4a1 |
G |
A |
5: 26,240,902 (GRCm39) |
Q197* |
probably null |
Het |
| Speg |
A |
G |
1: 75,367,734 (GRCm39) |
K641R |
probably damaging |
Het |
| Strip2 |
G |
A |
6: 29,928,553 (GRCm39) |
V286M |
probably damaging |
Het |
| Tnfrsf22 |
C |
T |
7: 143,197,012 (GRCm39) |
|
probably null |
Het |
| Tnpo3 |
A |
G |
6: 29,589,019 (GRCm39) |
|
probably benign |
Het |
| Top2b |
T |
A |
14: 16,422,695 (GRCm38) |
N1377K |
probably benign |
Het |
| Trmt1 |
T |
A |
8: 85,418,005 (GRCm39) |
|
probably null |
Het |
| Trpm1 |
A |
G |
7: 63,858,723 (GRCm39) |
M266V |
possibly damaging |
Het |
| Vmn1r199 |
A |
G |
13: 22,567,290 (GRCm39) |
T195A |
probably benign |
Het |
| Vmn2r10 |
A |
G |
5: 109,145,571 (GRCm39) |
V512A |
probably benign |
Het |
| Zfp777 |
A |
G |
6: 48,021,275 (GRCm39) |
F116L |
probably benign |
Het |
| Zp3r |
T |
A |
1: 130,519,188 (GRCm39) |
K253* |
probably null |
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 |
|
|
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 |
2014-05-07 |
Incidental Mutation