Incidental Mutation 'IGL01533:Cyp2a4'
| ID |
89828 |
| 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 # |
IGL01533
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
26006617-26014513 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 26007969 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Asparagine
at position 125
(K125N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000096254
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000098657]
|
| AlphaFold |
P15392 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000098657
AA Change: K125N
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000096254
Gene: ENSMUSG00000074254
AA Change: K125N
| 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: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Afg3l2 |
C |
A |
18: 67,538,488 (GRCm39) |
E757* |
probably null |
Het |
| Arhgap15 |
T |
C |
2: 44,133,165 (GRCm39) |
V357A |
probably damaging |
Het |
| Asb13 |
T |
C |
13: 3,692,164 (GRCm39) |
V48A |
probably benign |
Het |
| Bbs7 |
T |
C |
3: 36,664,384 (GRCm39) |
R74G |
possibly damaging |
Het |
| Capn11 |
T |
C |
17: 45,943,830 (GRCm39) |
H568R |
probably benign |
Het |
| Cbx5 |
T |
C |
15: 103,114,061 (GRCm39) |
E61G |
probably damaging |
Het |
| Ccdc158 |
T |
C |
5: 92,757,815 (GRCm39) |
|
probably null |
Het |
| Col14a1 |
C |
A |
15: 55,284,236 (GRCm39) |
N832K |
unknown |
Het |
| Dhx16 |
T |
C |
17: 36,192,939 (GRCm39) |
L215P |
probably damaging |
Het |
| Dtx4 |
T |
C |
19: 12,455,579 (GRCm39) |
M480V |
possibly damaging |
Het |
| Edaradd |
A |
G |
13: 12,493,463 (GRCm39) |
|
probably benign |
Het |
| Galnt13 |
T |
A |
2: 54,770,144 (GRCm39) |
M312K |
probably damaging |
Het |
| Gcdh |
T |
A |
8: 85,615,991 (GRCm39) |
R337W |
probably damaging |
Het |
| Gm28557 |
A |
T |
13: 67,219,396 (GRCm39) |
C109* |
probably null |
Het |
| Gpr22 |
C |
T |
12: 31,758,709 (GRCm39) |
|
probably benign |
Het |
| Gria4 |
T |
G |
9: 4,502,395 (GRCm39) |
L379F |
probably damaging |
Het |
| Gxylt2 |
T |
C |
6: 100,760,098 (GRCm39) |
L211P |
probably damaging |
Het |
| Igsf10 |
T |
A |
3: 59,226,651 (GRCm39) |
I2341F |
probably damaging |
Het |
| Macf1 |
T |
C |
4: 123,367,666 (GRCm39) |
D2365G |
probably damaging |
Het |
| Morc2b |
A |
G |
17: 33,354,695 (GRCm39) |
|
probably benign |
Het |
| Ncoa3 |
T |
C |
2: 165,896,945 (GRCm39) |
S579P |
probably benign |
Het |
| Nlgn1 |
T |
C |
3: 25,490,527 (GRCm39) |
N400S |
possibly damaging |
Het |
| Or5w17 |
C |
A |
2: 87,583,412 (GRCm39) |
R308S |
probably benign |
Het |
| Or8g17 |
C |
T |
9: 38,930,097 (GRCm39) |
A247T |
probably damaging |
Het |
| Pi4ka |
A |
G |
16: 17,126,065 (GRCm39) |
S1102P |
probably benign |
Het |
| Polr1e |
A |
G |
4: 45,019,328 (GRCm39) |
Y59C |
probably damaging |
Het |
| Prex2 |
C |
T |
1: 11,256,965 (GRCm39) |
Q1226* |
probably null |
Het |
| Rab12 |
A |
T |
17: 66,804,430 (GRCm39) |
I176K |
probably damaging |
Het |
| Ryr2 |
A |
T |
13: 11,736,676 (GRCm39) |
N2250K |
probably damaging |
Het |
| Sbf1 |
T |
C |
15: 89,172,919 (GRCm39) |
T1865A |
probably damaging |
Het |
| Sema6b |
G |
A |
17: 56,436,499 (GRCm39) |
|
probably benign |
Het |
| Smarcb1 |
C |
T |
10: 75,752,602 (GRCm39) |
|
probably null |
Het |
| Sos1 |
A |
G |
17: 80,722,511 (GRCm39) |
L845S |
probably damaging |
Het |
| Stat4 |
T |
A |
1: 52,137,578 (GRCm39) |
N456K |
probably damaging |
Het |
| Tex264 |
A |
G |
9: 106,550,798 (GRCm39) |
I133T |
probably benign |
Het |
| Thoc1 |
T |
C |
18: 9,962,376 (GRCm39) |
V87A |
probably benign |
Het |
| Tmem131 |
C |
T |
1: 36,857,803 (GRCm39) |
D778N |
probably damaging |
Het |
| Tspan14 |
A |
G |
14: 40,638,776 (GRCm39) |
I88T |
probably benign |
Het |
| Ttn |
C |
A |
2: 76,562,918 (GRCm39) |
V28679L |
possibly damaging |
Het |
| Ttn |
A |
G |
2: 76,782,285 (GRCm39) |
S984P |
probably damaging |
Het |
| Vangl1 |
T |
C |
3: 102,070,667 (GRCm39) |
E423G |
possibly damaging |
Het |
|
| Other mutations in Cyp2a4 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
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 |
2013-12-03 |
Incidental Mutation