Incidental Mutation 'R5111:Cyp2a12'
ID |
393855 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Cyp2a12
|
Ensembl Gene |
ENSMUSG00000060407 |
Gene Name |
cytochrome P450, family 2, subfamily a, polypeptide 12 |
Synonyms |
|
MMRRC Submission |
042699-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.062)
|
Stock # |
R5111 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
7 |
Chromosomal Location |
26728515-26736243 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 26736046 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Cysteine
at position 485
(Y485C)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000074990
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000075552]
|
AlphaFold |
P56593 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000075552
AA Change: Y485C
PolyPhen 2
Score 0.891 (Sensitivity: 0.82; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000074990 Gene: ENSMUSG00000060407 AA Change: Y485C
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
30 |
N/A |
INTRINSIC |
Pfam:p450
|
33 |
489 |
7.3e-153 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000207016
|
Meta Mutation Damage Score |
0.7331 |
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.2%
- 10x: 95.9%
- 20x: 91.0%
|
Validation Efficiency |
100% (56/56) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 46 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abhd17c |
A |
T |
7: 83,800,646 (GRCm39) |
L136* |
probably null |
Het |
Ankrd17 |
A |
T |
5: 90,390,858 (GRCm39) |
S2271T |
possibly damaging |
Het |
Arhgef10 |
A |
G |
8: 14,982,408 (GRCm39) |
D179G |
probably benign |
Het |
Bcan |
G |
T |
3: 87,901,514 (GRCm39) |
S396Y |
probably damaging |
Het |
Btbd3 |
T |
A |
2: 138,120,829 (GRCm39) |
M1K |
probably null |
Het |
Capns1 |
A |
G |
7: 29,891,944 (GRCm39) |
V106A |
probably benign |
Het |
Ccnjl |
A |
G |
11: 43,447,544 (GRCm39) |
T76A |
probably benign |
Het |
Cdc23 |
C |
A |
18: 34,784,742 (GRCm39) |
V7L |
unknown |
Het |
Col6a6 |
C |
T |
9: 105,586,673 (GRCm39) |
V1783I |
possibly damaging |
Het |
Crisp3 |
T |
C |
17: 40,536,695 (GRCm39) |
T207A |
possibly damaging |
Het |
Crxos |
G |
A |
7: 15,630,142 (GRCm39) |
|
probably benign |
Het |
Csf3r |
T |
C |
4: 125,923,861 (GRCm39) |
|
probably null |
Het |
Echdc2 |
A |
T |
4: 108,026,994 (GRCm39) |
|
probably benign |
Het |
Elp3 |
A |
C |
14: 65,797,685 (GRCm39) |
Y329D |
probably damaging |
Het |
Fbxw16 |
T |
C |
9: 109,265,796 (GRCm39) |
D341G |
probably benign |
Het |
H2-Ab1 |
T |
A |
17: 34,486,456 (GRCm39) |
S172T |
probably damaging |
Het |
Hyal2 |
T |
C |
9: 107,448,310 (GRCm39) |
V321A |
probably benign |
Het |
Ighv6-3 |
A |
T |
12: 114,355,394 (GRCm39) |
S98R |
probably benign |
Het |
Kank3 |
A |
G |
17: 34,037,155 (GRCm39) |
E153G |
possibly damaging |
Het |
Klrb1c |
C |
T |
6: 128,762,968 (GRCm39) |
R83H |
probably benign |
Het |
Krtap16-1 |
T |
C |
11: 99,877,378 (GRCm39) |
K9E |
possibly damaging |
Het |
Liph |
G |
A |
16: 21,802,820 (GRCm39) |
S83F |
probably damaging |
Het |
Lnpep |
A |
G |
17: 17,798,872 (GRCm39) |
I261T |
possibly damaging |
Het |
Mdm2 |
A |
T |
10: 117,527,126 (GRCm39) |
V273D |
possibly damaging |
Het |
Mterf1a |
A |
G |
5: 3,941,860 (GRCm39) |
S3P |
probably benign |
Het |
Myt1 |
A |
G |
2: 181,437,678 (GRCm39) |
T172A |
probably benign |
Het |
Nufip2 |
T |
A |
11: 77,582,669 (GRCm39) |
S194R |
probably benign |
Het |
Nusap1 |
T |
A |
2: 119,460,837 (GRCm39) |
L110* |
probably null |
Het |
Palb2 |
A |
T |
7: 121,716,528 (GRCm39) |
C488* |
probably null |
Het |
Pcdhac1 |
A |
T |
18: 37,224,558 (GRCm39) |
N457I |
probably damaging |
Het |
Per1 |
A |
T |
11: 68,991,612 (GRCm39) |
S49C |
probably damaging |
Het |
Ppargc1b |
A |
T |
18: 61,443,558 (GRCm39) |
I535N |
probably damaging |
Het |
Rb1cc1 |
T |
C |
1: 6,284,858 (GRCm39) |
|
probably benign |
Het |
Rpap1 |
A |
T |
2: 119,601,728 (GRCm39) |
L744Q |
probably damaging |
Het |
Sdk1 |
A |
G |
5: 142,113,600 (GRCm39) |
E1549G |
probably damaging |
Het |
Tnr |
C |
T |
1: 159,713,798 (GRCm39) |
T742I |
probably benign |
Het |
Trp53bp1 |
A |
T |
2: 121,041,868 (GRCm39) |
H1229Q |
probably damaging |
Het |
Unc80 |
A |
G |
1: 66,567,154 (GRCm39) |
H920R |
possibly damaging |
Het |
Urb1 |
A |
C |
16: 90,548,905 (GRCm39) |
S2268A |
probably benign |
Het |
Usp32 |
A |
T |
11: 84,968,157 (GRCm39) |
Y169N |
possibly damaging |
Het |
Vmn2r18 |
A |
T |
5: 151,485,913 (GRCm39) |
M527K |
possibly damaging |
Het |
Vmn2r93 |
A |
T |
17: 18,546,326 (GRCm39) |
I733F |
probably damaging |
Het |
Vstm2l |
A |
G |
2: 157,777,389 (GRCm39) |
D89G |
probably damaging |
Het |
Zdhhc8 |
G |
T |
16: 18,044,612 (GRCm39) |
Q303K |
probably benign |
Het |
Zfand2a |
A |
G |
5: 139,459,509 (GRCm39) |
V159A |
probably benign |
Het |
Zswim6 |
A |
G |
13: 107,865,170 (GRCm39) |
|
noncoding transcript |
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 |
PIT4618001: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 |
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'- TCTCTCCTCTTCAGGGAAGC -3'
(R):5'- TGCTGGATGAGTGACAGCTG -3'
Sequencing Primer
(F):5'- CCTCTTCAGGGAAGCGATTCTG -3'
(R):5'- ACTGCTGCTCACTGTGTG -3'
|
Posted On |
2016-06-15 |