Incidental Mutation 'PIT4618001:Cyp2a12'
| ID |
555697 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cyp2a12
|
| Ensembl Gene |
ENSMUSG00000060407 |
| Gene Name |
cytochrome P450, family 2, subfamily a, polypeptide 12 |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.071)
|
| Stock # |
PIT4618001 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
26728515-26736243 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 26734198 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Tyrosine
at position 377
(S377Y)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000074990
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000075552]
|
| AlphaFold |
P56593 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000075552
AA Change: S377Y
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000074990
Gene: ENSMUSG00000060407
AA Change: S377Y
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
30 |
N/A |
INTRINSIC |
|
Pfam:p450
|
33 |
489 |
7.3e-153 |
PFAM |
|
| Coding Region Coverage |
- 1x: 93.4%
- 3x: 91.0%
- 10x: 85.9%
- 20x: 75.2%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700028K03Rik |
A |
T |
5: 107,693,575 (GRCm39) |
D64V |
probably damaging |
Het |
| Ankdd1a |
A |
C |
9: 65,414,932 (GRCm39) |
I268S |
possibly damaging |
Het |
| Atad3a |
C |
T |
4: 155,834,595 (GRCm39) |
R402Q |
probably benign |
Het |
| C3ar1 |
A |
G |
6: 122,827,746 (GRCm39) |
V157A |
probably benign |
Het |
| Cd200l1 |
A |
G |
16: 45,264,297 (GRCm39) |
F87S |
probably benign |
Het |
| Cd55 |
C |
T |
1: 130,384,606 (GRCm39) |
V206I |
probably benign |
Het |
| Cd8a |
A |
G |
6: 71,350,661 (GRCm39) |
D42G |
possibly damaging |
Het |
| Cemip |
G |
T |
7: 83,593,147 (GRCm39) |
F1185L |
probably benign |
Het |
| Cfap58 |
A |
G |
19: 47,963,953 (GRCm39) |
D527G |
probably damaging |
Het |
| Dapk2 |
A |
G |
9: 66,175,968 (GRCm39) |
D289G |
probably benign |
Het |
| Efcab6 |
G |
A |
15: 83,867,647 (GRCm39) |
A277V |
probably benign |
Het |
| Ephx2 |
A |
T |
14: 66,339,671 (GRCm39) |
F250L |
probably damaging |
Het |
| Flg2 |
A |
T |
3: 93,111,088 (GRCm39) |
S1039C |
unknown |
Het |
| Gramd1a |
A |
G |
7: 30,832,021 (GRCm39) |
V674A |
probably benign |
Het |
| Gtf2a1 |
A |
C |
12: 91,534,543 (GRCm39) |
V237G |
probably benign |
Het |
| I830077J02Rik |
G |
A |
3: 105,833,886 (GRCm39) |
T90M |
probably damaging |
Het |
| Jagn1 |
T |
A |
6: 113,424,398 (GRCm39) |
L90H |
probably damaging |
Het |
| Mdn1 |
G |
T |
4: 32,746,527 (GRCm39) |
A4158S |
probably benign |
Het |
| Myh11 |
G |
A |
16: 14,018,930 (GRCm39) |
A1839V |
|
Het |
| Olr1 |
G |
A |
6: 129,476,869 (GRCm39) |
A132V |
probably damaging |
Het |
| Paqr3 |
A |
T |
5: 97,251,330 (GRCm39) |
H131Q |
possibly damaging |
Het |
| Pde4b |
A |
T |
4: 102,460,009 (GRCm39) |
T397S |
probably benign |
Het |
| Pon1 |
A |
G |
6: 5,168,349 (GRCm39) |
C353R |
probably damaging |
Het |
| Ppie |
G |
A |
4: 123,032,661 (GRCm39) |
T43I |
probably null |
Het |
| Prr5l |
A |
G |
2: 101,588,875 (GRCm39) |
F92L |
probably damaging |
Het |
| Rai14 |
T |
C |
15: 10,575,242 (GRCm39) |
Y601C |
probably damaging |
Het |
| Rasal1 |
A |
G |
5: 120,808,441 (GRCm39) |
D491G |
probably damaging |
Het |
| Rbm12b1 |
T |
A |
4: 12,145,441 (GRCm39) |
V471E |
probably damaging |
Het |
| Rpusd2 |
T |
C |
2: 118,868,933 (GRCm39) |
L452P |
possibly damaging |
Het |
| Scgb2b24 |
A |
T |
7: 33,438,036 (GRCm39) |
C24S |
probably damaging |
Het |
| Slc17a5 |
C |
T |
9: 78,445,530 (GRCm39) |
V468M |
possibly damaging |
Het |
| Tcp10c |
A |
G |
17: 13,576,772 (GRCm39) |
K117R |
possibly damaging |
Het |
| Ubash3b |
A |
G |
9: 40,927,923 (GRCm39) |
S584P |
probably benign |
Het |
| Vps13b |
C |
T |
15: 35,709,386 (GRCm39) |
R1778C |
probably damaging |
Het |
| Ythdc2 |
A |
G |
18: 44,967,665 (GRCm39) |
I220M |
probably benign |
Het |
| Zfp474 |
C |
A |
18: 52,771,476 (GRCm39) |
T43K |
probably damaging |
Het |
| Zscan4-ps3 |
G |
A |
7: 11,347,261 (GRCm39) |
M432I |
probably benign |
Het |
|
| Other mutations in Cyp2a12 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02191:Cyp2a12
|
APN |
7 |
26,736,036 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02306:Cyp2a12
|
APN |
7 |
26,732,008 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02667:Cyp2a12
|
APN |
7 |
26,730,583 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02943:Cyp2a12
|
APN |
7 |
26,731,967 (GRCm39) |
missense |
probably benign |
0.07 |
|
IGL03025:Cyp2a12
|
APN |
7 |
26,730,631 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL03230:Cyp2a12
|
APN |
7 |
26,729,017 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
PIT4243001:Cyp2a12
|
UTSW |
7 |
26,734,198 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0655:Cyp2a12
|
UTSW |
7 |
26,736,046 (GRCm39) |
missense |
probably benign |
0.15 |
|
R0659:Cyp2a12
|
UTSW |
7 |
26,733,563 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0743:Cyp2a12
|
UTSW |
7 |
26,731,967 (GRCm39) |
missense |
probably benign |
0.07 |
|
R0884:Cyp2a12
|
UTSW |
7 |
26,731,967 (GRCm39) |
missense |
probably benign |
0.07 |
|
R2118:Cyp2a12
|
UTSW |
7 |
26,736,071 (GRCm39) |
makesense |
probably null |
|
|
R2119:Cyp2a12
|
UTSW |
7 |
26,736,071 (GRCm39) |
makesense |
probably null |
|
|
R2120:Cyp2a12
|
UTSW |
7 |
26,736,071 (GRCm39) |
makesense |
probably null |
|
|
R2121:Cyp2a12
|
UTSW |
7 |
26,736,071 (GRCm39) |
makesense |
probably null |
|
|
R2122:Cyp2a12
|
UTSW |
7 |
26,736,071 (GRCm39) |
makesense |
probably null |
|
|
R2124:Cyp2a12
|
UTSW |
7 |
26,736,071 (GRCm39) |
makesense |
probably null |
|
|
R2144:Cyp2a12
|
UTSW |
7 |
26,734,194 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R2153:Cyp2a12
|
UTSW |
7 |
26,732,042 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2171:Cyp2a12
|
UTSW |
7 |
26,729,057 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2182:Cyp2a12
|
UTSW |
7 |
26,730,571 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2297:Cyp2a12
|
UTSW |
7 |
26,734,057 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R4392:Cyp2a12
|
UTSW |
7 |
26,728,700 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4900:Cyp2a12
|
UTSW |
7 |
26,730,640 (GRCm39) |
nonsense |
probably null |
|
|
R4960:Cyp2a12
|
UTSW |
7 |
26,733,575 (GRCm39) |
missense |
probably benign |
0.11 |
|
R5111:Cyp2a12
|
UTSW |
7 |
26,736,046 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R5143:Cyp2a12
|
UTSW |
7 |
26,736,036 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5223:Cyp2a12
|
UTSW |
7 |
26,735,888 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R5268:Cyp2a12
|
UTSW |
7 |
26,730,643 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5493:Cyp2a12
|
UTSW |
7 |
26,728,550 (GRCm39) |
missense |
unknown |
|
|
R5524:Cyp2a12
|
UTSW |
7 |
26,730,656 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5806:Cyp2a12
|
UTSW |
7 |
26,728,504 (GRCm39) |
splice site |
probably null |
|
|
R6320:Cyp2a12
|
UTSW |
7 |
26,730,577 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
R6823:Cyp2a12
|
UTSW |
7 |
26,733,581 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R7958:Cyp2a12
|
UTSW |
7 |
26,728,677 (GRCm39) |
missense |
probably benign |
0.13 |
|
R8093:Cyp2a12
|
UTSW |
7 |
26,736,054 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R8191:Cyp2a12
|
UTSW |
7 |
26,730,529 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8259:Cyp2a12
|
UTSW |
7 |
26,732,083 (GRCm39) |
nonsense |
probably null |
|
|
R9083:Cyp2a12
|
UTSW |
7 |
26,735,944 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9084:Cyp2a12
|
UTSW |
7 |
26,735,944 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9085:Cyp2a12
|
UTSW |
7 |
26,735,944 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9086:Cyp2a12
|
UTSW |
7 |
26,735,944 (GRCm39) |
missense |
probably damaging |
0.99 |
|
RF021:Cyp2a12
|
UTSW |
7 |
26,734,785 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
Z1088:Cyp2a12
|
UTSW |
7 |
26,734,845 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
| Predicted Primers |
PCR Primer
(F):5'- TTGTCTTCCAGCCAAGGTCC -3'
(R):5'- TTGGAGTTCAAAGCAATGAGAC -3'
Sequencing Primer
(F):5'- TCTTCCAGCCAAGGTCCATGAG -3'
(R):5'- GTTGGAGACATGTGGATAAATCTCC -3'
|
| Posted On |
2019-06-07 |
Incidental Mutation