Incidental Mutation 'R1580:Cyp2a4'
ID |
171351 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Cyp2a4
|
Ensembl Gene |
ENSMUSG00000074254 |
Gene Name |
cytochrome P450, family 2, subfamily a, polypeptide 4 |
Synonyms |
Cyp15a1, D7Ucla4, testosterone 15alpha-hydroxylase |
MMRRC Submission |
039617-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.092)
|
Stock # |
R1580 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
7 |
Chromosomal Location |
26006617-26014513 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 26007076 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Threonine
at position 61
(I61T)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000096254
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000098657]
|
AlphaFold |
P15392 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000098657
AA Change: I61T
PolyPhen 2
Score 0.914 (Sensitivity: 0.81; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000096254 Gene: ENSMUSG00000074254 AA Change: I61T
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
|
Meta Mutation Damage Score |
0.2635 |
Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.0%
- 10x: 95.4%
- 20x: 89.8%
|
Validation Efficiency |
96% (43/45) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 39 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca12 |
C |
T |
1: 71,305,124 (GRCm39) |
V2044I |
possibly damaging |
Het |
Adgrv1 |
A |
G |
13: 81,614,279 (GRCm39) |
|
probably null |
Het |
Arhgef38 |
T |
C |
3: 132,839,465 (GRCm39) |
Q526R |
probably benign |
Het |
Atp2c2 |
A |
G |
8: 120,479,726 (GRCm39) |
N752D |
probably benign |
Het |
Atp6v0a1 |
T |
C |
11: 100,920,030 (GRCm39) |
I221T |
probably damaging |
Het |
Atp8b5 |
T |
C |
4: 43,355,673 (GRCm39) |
V551A |
possibly damaging |
Het |
B3galnt1 |
A |
G |
3: 69,483,040 (GRCm39) |
S74P |
possibly damaging |
Het |
Bcl2l13 |
A |
G |
6: 120,842,675 (GRCm39) |
I123V |
probably benign |
Het |
Brms1l |
A |
T |
12: 55,915,007 (GRCm39) |
K305N |
probably damaging |
Het |
Ccdc82 |
C |
T |
9: 13,252,385 (GRCm39) |
R226C |
probably damaging |
Het |
Chst9 |
T |
G |
18: 15,586,122 (GRCm39) |
K147T |
probably benign |
Het |
Clec16a |
A |
G |
16: 10,413,762 (GRCm39) |
R390G |
probably damaging |
Het |
Clec5a |
G |
T |
6: 40,562,153 (GRCm39) |
H4N |
probably benign |
Het |
Csmd1 |
T |
A |
8: 15,975,299 (GRCm39) |
Q2970L |
probably damaging |
Het |
Cyp3a16 |
T |
A |
5: 145,378,884 (GRCm39) |
K379I |
possibly damaging |
Het |
Cyp3a16 |
T |
C |
5: 145,378,885 (GRCm39) |
K379E |
probably damaging |
Het |
Dok2 |
A |
G |
14: 71,014,397 (GRCm39) |
D195G |
probably benign |
Het |
Emilin1 |
A |
G |
5: 31,074,764 (GRCm39) |
E335G |
probably damaging |
Het |
Gm7361 |
G |
T |
5: 26,462,768 (GRCm39) |
L3F |
probably damaging |
Het |
Haus1 |
T |
C |
18: 77,854,620 (GRCm39) |
D50G |
probably damaging |
Het |
Igf1r |
T |
C |
7: 67,857,617 (GRCm39) |
V1099A |
probably benign |
Het |
Kif15 |
T |
C |
9: 122,789,021 (GRCm39) |
V71A |
probably benign |
Het |
Klk10 |
C |
T |
7: 43,432,286 (GRCm39) |
A73V |
probably damaging |
Het |
Lins1 |
C |
A |
7: 66,364,239 (GRCm39) |
D711E |
probably benign |
Het |
Mbtps1 |
C |
T |
8: 120,265,639 (GRCm39) |
V303I |
possibly damaging |
Het |
Mest |
G |
A |
6: 30,745,822 (GRCm39) |
|
probably benign |
Het |
Nup214 |
C |
T |
2: 31,924,478 (GRCm39) |
S1669F |
probably damaging |
Het |
Or14c43 |
A |
G |
7: 86,114,658 (GRCm39) |
E13G |
probably benign |
Het |
Or6c210 |
G |
T |
10: 129,496,184 (GRCm39) |
V170F |
probably benign |
Het |
Rfwd3 |
C |
T |
8: 112,014,874 (GRCm39) |
R326Q |
probably damaging |
Het |
Rtf2 |
A |
G |
2: 172,287,285 (GRCm39) |
D68G |
probably damaging |
Het |
Sbspon |
C |
A |
1: 15,962,692 (GRCm39) |
C62F |
probably damaging |
Het |
Spata31f3 |
T |
C |
4: 42,874,020 (GRCm39) |
|
probably null |
Het |
Spg7 |
T |
A |
8: 123,816,977 (GRCm39) |
|
probably benign |
Het |
Trabd2b |
T |
C |
4: 114,437,531 (GRCm39) |
V236A |
possibly damaging |
Het |
Vmn2r10 |
A |
T |
5: 109,154,117 (GRCm39) |
N62K |
possibly damaging |
Het |
Vmn2r45 |
T |
G |
7: 8,474,746 (GRCm39) |
S761R |
possibly damaging |
Het |
Zfp580 |
C |
T |
7: 5,056,284 (GRCm39) |
R215C |
probably damaging |
Het |
Zfpm2 |
A |
G |
15: 40,966,605 (GRCm39) |
D898G |
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 |
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 |
|
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 |
|
|
Predicted Primers |
PCR Primer
(F):5'- CAACTCTCTCATGAAGGTGCCACTG -3'
(R):5'- ATGATGCTCTCAAATGTCCTCTGCC -3'
Sequencing Primer
(F):5'- CCACTGGGCATGGAGATG -3'
(R):5'- TCATTCCCCTGTGTCAAGAC -3'
|
Posted On |
2014-04-13 |