Incidental Mutation 'R1215:Cyp2a4'
| ID |
99574 |
| 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 |
039284-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.092)
|
| Stock # |
R1215 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
26006617-26014513 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 26014226 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Proline to Serine
at position 468
(P468S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000096254
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000098657]
|
| AlphaFold |
P15392 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000098657
AA Change: P468S
PolyPhen 2
Score 0.752 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000096254
Gene: ENSMUSG00000074254
AA Change: P468S
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
5 |
24 |
N/A |
INTRINSIC |
|
Pfam:p450
|
34 |
491 |
8.9e-151 |
PFAM |
|
| Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.1%
- 10x: 95.7%
- 20x: 90.5%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 28 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Alkbh2 |
C |
T |
5: 114,262,287 (GRCm39) |
E148K |
probably damaging |
Het |
| Art5 |
C |
T |
7: 101,747,116 (GRCm39) |
R123H |
probably damaging |
Het |
| Azin2 |
A |
G |
4: 128,843,489 (GRCm39) |
S66P |
probably damaging |
Het |
| Cep295 |
T |
C |
9: 15,239,178 (GRCm39) |
E1865G |
probably benign |
Het |
| Ces1a |
A |
G |
8: 93,759,318 (GRCm39) |
C273R |
probably damaging |
Het |
| Cfap44 |
A |
G |
16: 44,239,666 (GRCm39) |
Y571C |
probably damaging |
Het |
| Cntfr |
C |
A |
4: 41,662,064 (GRCm39) |
W226L |
probably damaging |
Het |
| Csmd3 |
A |
T |
15: 47,868,227 (GRCm39) |
|
probably null |
Het |
| Dync1h1 |
G |
A |
12: 110,602,943 (GRCm39) |
E2195K |
probably benign |
Het |
| E130308A19Rik |
T |
A |
4: 59,690,743 (GRCm39) |
D192E |
probably benign |
Het |
| Fam184b |
C |
T |
5: 45,741,520 (GRCm39) |
R237H |
probably damaging |
Het |
| Fmn1 |
T |
A |
2: 113,523,375 (GRCm39) |
Y1247* |
probably null |
Het |
| Grb14 |
T |
C |
2: 64,747,608 (GRCm39) |
S18G |
probably benign |
Het |
| Hs2st1 |
G |
A |
3: 144,170,902 (GRCm39) |
T90I |
possibly damaging |
Het |
| Mcc |
A |
T |
18: 44,601,561 (GRCm39) |
N589K |
possibly damaging |
Het |
| Mff |
T |
A |
1: 82,719,609 (GRCm39) |
S196T |
probably benign |
Het |
| Nyap1 |
C |
T |
5: 137,733,395 (GRCm39) |
W546* |
probably null |
Het |
| Or13p10 |
A |
T |
4: 118,523,496 (GRCm39) |
M261L |
possibly damaging |
Het |
| Ppp2r3d |
A |
G |
9: 101,089,883 (GRCm39) |
S147P |
probably benign |
Het |
| Rsph14 |
T |
C |
10: 74,860,898 (GRCm39) |
H134R |
probably benign |
Het |
| Slc25a3 |
G |
A |
10: 90,953,170 (GRCm39) |
A274V |
possibly damaging |
Het |
| Slc43a2 |
T |
A |
11: 75,453,688 (GRCm39) |
W229R |
probably damaging |
Het |
| Slco4c1 |
C |
A |
1: 96,756,596 (GRCm39) |
L575F |
probably damaging |
Het |
| Smyd4 |
T |
A |
11: 75,281,121 (GRCm39) |
I198N |
possibly damaging |
Het |
| Trpm6 |
A |
G |
19: 18,773,862 (GRCm39) |
D413G |
probably damaging |
Het |
| Ush2a |
A |
G |
1: 188,689,479 (GRCm39) |
T33A |
possibly damaging |
Het |
| Zfp871 |
A |
T |
17: 32,994,946 (GRCm39) |
D57E |
possibly damaging |
Het |
| Zfyve9 |
T |
C |
4: 108,507,426 (GRCm39) |
Q1176R |
probably benign |
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 |
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TGTTACAGCCTGGTGTGGATCAAC -3'
(R):5'- CTGCAAGTCTACGAAGTGTCCTCTG -3'
Sequencing Primer
(F):5'- GAGCTTTCCTTAAAGATCTCAGCAC -3'
(R):5'- ACGAAGTGTCCTCTGTTTCTTCTG -3'
|
| Posted On |
2014-01-15 |
Incidental Mutation