Incidental Mutation 'R8789:Cyp2a4'
ID |
670815 |
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 |
068608-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.092)
|
Stock # |
R8789 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
7 |
Chromosomal Location |
26006617-26014513 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 26007106 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Asparagine
at position 71
(I71N)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000096254
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000098657]
|
AlphaFold |
P15392 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000098657
AA Change: I71N
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000096254 Gene: ENSMUSG00000074254 AA Change: I71N
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: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.1%
|
Validation Efficiency |
100% (45/45) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 46 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Actr5 |
C |
T |
2: 158,478,604 (GRCm39) |
Q485* |
probably null |
Het |
Arsa |
C |
T |
15: 89,358,260 (GRCm39) |
V350I |
probably benign |
Het |
Bean1 |
CT |
C |
8: 104,908,664 (GRCm39) |
|
probably null |
Het |
Cav2 |
T |
C |
6: 17,281,996 (GRCm39) |
Y85H |
probably damaging |
Het |
Ccdc93 |
A |
G |
1: 121,424,784 (GRCm39) |
Q570R |
probably damaging |
Het |
Cd72 |
A |
G |
4: 43,452,628 (GRCm39) |
S122P |
probably damaging |
Het |
Cep72 |
A |
G |
13: 74,186,367 (GRCm39) |
M619T |
possibly damaging |
Het |
Cers5 |
C |
A |
15: 99,637,551 (GRCm39) |
V233F |
possibly damaging |
Het |
Cntn5 |
A |
G |
9: 9,673,292 (GRCm39) |
Y803H |
probably damaging |
Het |
Crybg2 |
T |
C |
4: 133,801,554 (GRCm39) |
S596P |
probably benign |
Het |
Crybg3 |
T |
C |
16: 59,375,359 (GRCm39) |
E251G |
probably benign |
Het |
Csmd1 |
T |
A |
8: 17,266,722 (GRCm39) |
N68I |
probably damaging |
Het |
Ctr9 |
A |
G |
7: 110,642,933 (GRCm39) |
N466S |
possibly damaging |
Het |
Cyp2j11 |
C |
T |
4: 96,227,405 (GRCm39) |
E204K |
probably damaging |
Het |
Cyp4f39 |
T |
C |
17: 32,710,848 (GRCm39) |
F469S |
probably damaging |
Het |
Dmac2 |
T |
A |
7: 25,320,495 (GRCm39) |
S65T |
probably benign |
Het |
Duxf1 |
T |
C |
10: 58,059,426 (GRCm39) |
N443D |
unknown |
Het |
Elp3 |
G |
A |
14: 65,802,870 (GRCm39) |
P243S |
probably damaging |
Het |
Foxg1 |
T |
A |
12: 49,432,143 (GRCm39) |
M292K |
probably benign |
Het |
Fsip2 |
T |
C |
2: 82,815,822 (GRCm39) |
S3852P |
possibly damaging |
Het |
Gm10800 |
CAAGAAAACTGAAAATCAAAGAAAACTGAAAATCA |
CAAGAAAACTGAAAATCA |
2: 98,497,361 (GRCm39) |
|
probably null |
Het |
Gm10912 |
A |
C |
2: 103,897,046 (GRCm39) |
K62Q |
possibly damaging |
Het |
Grk2 |
G |
A |
19: 4,338,511 (GRCm39) |
R474C |
probably damaging |
Het |
Hapstr1 |
T |
C |
16: 8,660,865 (GRCm39) |
I114T |
probably benign |
Het |
Hoxc12 |
T |
C |
15: 102,846,732 (GRCm39) |
I208T |
probably benign |
Het |
Htra3 |
G |
A |
5: 35,836,602 (GRCm39) |
P30L |
unknown |
Het |
Itgal |
A |
G |
7: 126,904,421 (GRCm39) |
H298R |
probably benign |
Het |
Klrb1c |
A |
G |
6: 128,761,148 (GRCm39) |
S160P |
probably benign |
Het |
Or13c7d |
A |
T |
4: 43,770,793 (GRCm39) |
C73S |
probably damaging |
Het |
Or2z9 |
T |
C |
8: 72,854,135 (GRCm39) |
F177S |
probably damaging |
Het |
Phrf1 |
T |
A |
7: 140,836,581 (GRCm39) |
D284E |
unknown |
Het |
Pmp2 |
T |
A |
3: 10,247,564 (GRCm39) |
I42F |
probably damaging |
Het |
Psg26 |
T |
C |
7: 18,216,494 (GRCm39) |
D115G |
probably damaging |
Het |
Pym1 |
T |
C |
10: 128,601,073 (GRCm39) |
V32A |
probably benign |
Het |
R3hdm2 |
T |
G |
10: 127,293,521 (GRCm39) |
S142A |
probably damaging |
Het |
Recql4 |
T |
C |
15: 76,588,546 (GRCm39) |
H1105R |
probably benign |
Het |
Rimkla |
T |
C |
4: 119,349,607 (GRCm39) |
Y17C |
probably damaging |
Het |
Rnf207 |
C |
T |
4: 152,391,924 (GRCm39) |
R623K |
probably benign |
Het |
Ros1 |
A |
T |
10: 51,999,328 (GRCm39) |
N1207K |
probably damaging |
Het |
Scg2 |
G |
T |
1: 79,413,500 (GRCm39) |
Q368K |
probably benign |
Het |
Serpinb6e |
G |
A |
13: 34,017,213 (GRCm39) |
T269I |
probably damaging |
Het |
Tsc22d2 |
A |
T |
3: 58,367,438 (GRCm39) |
K663* |
probably null |
Het |
Ubr4 |
T |
A |
4: 139,137,494 (GRCm39) |
N1026K |
possibly damaging |
Het |
Ubtfl1 |
A |
G |
9: 18,321,609 (GRCm39) |
D379G |
unknown |
Het |
Vps13d |
T |
C |
4: 144,795,743 (GRCm39) |
M3700V |
|
Het |
Zscan4-ps3 |
T |
C |
7: 11,346,288 (GRCm39) |
L136P |
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 |
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 |
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'- CTTGTGAAGACATCAGCGCC -3'
(R):5'- GTCTGAGACTAGACACAGTGGG -3'
Sequencing Primer
(F):5'- CACTTCCTAGACCTGTGGGATCAC -3'
(R):5'- GGGAATGATGCTCTCAAATGTCCTC -3'
|
Posted On |
2021-04-30 |