Incidental Mutation 'R4528:Cyp2a22'
ID |
332992 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Cyp2a22
|
Ensembl Gene |
ENSMUSG00000091867 |
Gene Name |
cytochrome P450, family 2, subfamily a, polypeptide 22 |
Synonyms |
EG233005 |
MMRRC Submission |
041769-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.082)
|
Stock # |
R4528 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
7 |
Chromosomal Location |
26631056-26638809 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 26634194 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glycine
at position 320
(D320G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000128030
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000170227]
|
AlphaFold |
B2RXZ2 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000170227
AA Change: D320G
PolyPhen 2
Score 0.946 (Sensitivity: 0.80; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000128030 Gene: ENSMUSG00000091867 AA Change: D320G
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
30 |
N/A |
INTRINSIC |
Pfam:p450
|
33 |
489 |
7.4e-148 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000206638
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000206957
|
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 94.8%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 37 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Atm |
A |
T |
9: 53,412,059 (GRCm39) |
I999K |
probably benign |
Het |
Camsap3 |
A |
G |
8: 3,656,515 (GRCm39) |
E535G |
possibly damaging |
Het |
Cd109 |
CATTTATTTATTTATTTATTTATTTATTTATTTAT |
CATTTATTTATTTATTTATTTATTTATTTATTTATTTAT |
9: 78,619,782 (GRCm39) |
|
probably benign |
Het |
Cenpu |
G |
T |
8: 47,015,457 (GRCm39) |
G34* |
probably null |
Het |
Col7a1 |
C |
A |
9: 108,788,601 (GRCm39) |
A739D |
unknown |
Het |
Coro1b |
T |
C |
19: 4,199,980 (GRCm39) |
V107A |
probably benign |
Het |
Cpeb3 |
T |
C |
19: 37,116,488 (GRCm39) |
D381G |
possibly damaging |
Het |
Dcaf1 |
A |
T |
9: 106,721,403 (GRCm39) |
K398N |
probably damaging |
Het |
Etfa |
A |
G |
9: 55,407,334 (GRCm39) |
S52P |
probably damaging |
Het |
Fat4 |
T |
A |
3: 38,945,443 (GRCm39) |
H1445Q |
probably benign |
Het |
Foxred2 |
T |
A |
15: 77,827,449 (GRCm39) |
M637L |
probably benign |
Het |
Gbe1 |
A |
T |
16: 70,275,225 (GRCm39) |
I342L |
probably benign |
Het |
Gm14410 |
A |
T |
2: 176,885,736 (GRCm39) |
I176K |
probably benign |
Het |
Gm14410 |
G |
T |
2: 176,885,734 (GRCm39) |
H177N |
probably damaging |
Het |
Gm1527 |
T |
A |
3: 28,968,542 (GRCm39) |
M198K |
probably damaging |
Het |
Hr |
T |
C |
14: 70,803,823 (GRCm39) |
L838P |
probably damaging |
Het |
Kmt2e |
T |
C |
5: 23,678,556 (GRCm39) |
S212P |
possibly damaging |
Het |
Lims1 |
T |
C |
10: 58,245,882 (GRCm39) |
C180R |
probably damaging |
Het |
Mki67 |
A |
T |
7: 135,297,088 (GRCm39) |
S2649T |
probably damaging |
Het |
Or10x1 |
T |
A |
1: 174,196,822 (GRCm39) |
L113H |
probably damaging |
Het |
Or4f57 |
T |
C |
2: 111,791,293 (GRCm39) |
N42D |
probably damaging |
Het |
Or51t4 |
A |
G |
7: 102,598,013 (GRCm39) |
M104V |
probably damaging |
Het |
Pde4dip |
C |
T |
3: 97,624,338 (GRCm39) |
E1399K |
probably damaging |
Het |
Pex1 |
T |
C |
5: 3,681,712 (GRCm39) |
Y1053H |
probably damaging |
Het |
Plscr2 |
G |
A |
9: 92,171,746 (GRCm39) |
E113K |
possibly damaging |
Het |
Pus1 |
T |
C |
5: 110,922,596 (GRCm39) |
Y309C |
probably damaging |
Het |
Scube3 |
T |
A |
17: 28,381,973 (GRCm39) |
V333D |
possibly damaging |
Het |
Serpina11 |
A |
T |
12: 103,952,592 (GRCm39) |
N66K |
probably benign |
Het |
Thtpa |
T |
A |
14: 55,333,039 (GRCm39) |
D41E |
probably damaging |
Het |
Timm10b |
A |
G |
7: 105,332,013 (GRCm39) |
N828S |
probably benign |
Het |
Tlr12 |
A |
C |
4: 128,511,818 (GRCm39) |
L144R |
probably damaging |
Het |
Uba7 |
A |
G |
9: 107,861,102 (GRCm39) |
E964G |
possibly damaging |
Het |
Ugt1a6b |
T |
A |
1: 88,035,301 (GRCm39) |
I213N |
probably damaging |
Het |
Usp5 |
C |
G |
6: 124,799,593 (GRCm39) |
K318N |
possibly damaging |
Het |
Zbtb43 |
A |
G |
2: 33,352,337 (GRCm39) |
|
probably benign |
Het |
Zfp985 |
A |
T |
4: 147,667,347 (GRCm39) |
I72F |
possibly damaging |
Het |
Zfpm1 |
G |
A |
8: 123,062,381 (GRCm39) |
R480H |
probably benign |
Het |
|
Other mutations in Cyp2a22 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00156:Cyp2a22
|
APN |
7 |
26,637,163 (GRCm39) |
missense |
probably benign |
0.09 |
IGL01111:Cyp2a22
|
APN |
7 |
26,635,883 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01388:Cyp2a22
|
APN |
7 |
26,637,217 (GRCm39) |
missense |
probably benign |
0.02 |
IGL01449:Cyp2a22
|
APN |
7 |
26,632,978 (GRCm39) |
missense |
probably benign |
0.01 |
IGL01642:Cyp2a22
|
APN |
7 |
26,638,184 (GRCm39) |
missense |
possibly damaging |
0.81 |
IGL02253:Cyp2a22
|
APN |
7 |
26,637,662 (GRCm39) |
splice site |
probably benign |
|
IGL02327:Cyp2a22
|
APN |
7 |
26,634,206 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL02673:Cyp2a22
|
APN |
7 |
26,637,525 (GRCm39) |
missense |
probably benign |
0.00 |
IGL02813:Cyp2a22
|
APN |
7 |
26,635,859 (GRCm39) |
missense |
probably benign |
0.19 |
IGL02896:Cyp2a22
|
APN |
7 |
26,635,886 (GRCm39) |
missense |
probably damaging |
0.98 |
IGL03193:Cyp2a22
|
APN |
7 |
26,635,846 (GRCm39) |
missense |
probably benign |
0.00 |
IGL03350:Cyp2a22
|
APN |
7 |
26,634,279 (GRCm39) |
missense |
possibly damaging |
0.88 |
R1648:Cyp2a22
|
UTSW |
7 |
26,631,793 (GRCm39) |
missense |
probably damaging |
0.98 |
R1679:Cyp2a22
|
UTSW |
7 |
26,635,736 (GRCm39) |
nonsense |
probably null |
|
R1733:Cyp2a22
|
UTSW |
7 |
26,634,187 (GRCm39) |
missense |
possibly damaging |
0.78 |
R2001:Cyp2a22
|
UTSW |
7 |
26,634,197 (GRCm39) |
missense |
probably damaging |
1.00 |
R2858:Cyp2a22
|
UTSW |
7 |
26,633,687 (GRCm39) |
missense |
probably damaging |
0.99 |
R3054:Cyp2a22
|
UTSW |
7 |
26,638,254 (GRCm39) |
missense |
probably damaging |
1.00 |
R4623:Cyp2a22
|
UTSW |
7 |
26,632,916 (GRCm39) |
missense |
probably damaging |
1.00 |
R4669:Cyp2a22
|
UTSW |
7 |
26,637,280 (GRCm39) |
missense |
possibly damaging |
0.88 |
R4690:Cyp2a22
|
UTSW |
7 |
26,638,634 (GRCm39) |
nonsense |
probably null |
|
R4840:Cyp2a22
|
UTSW |
7 |
26,631,949 (GRCm39) |
missense |
probably benign |
0.13 |
R4915:Cyp2a22
|
UTSW |
7 |
26,637,195 (GRCm39) |
missense |
probably benign |
0.33 |
R5071:Cyp2a22
|
UTSW |
7 |
26,631,906 (GRCm39) |
missense |
probably benign |
0.01 |
R5072:Cyp2a22
|
UTSW |
7 |
26,631,906 (GRCm39) |
missense |
probably benign |
0.01 |
R5074:Cyp2a22
|
UTSW |
7 |
26,631,906 (GRCm39) |
missense |
probably benign |
0.01 |
R5147:Cyp2a22
|
UTSW |
7 |
26,635,750 (GRCm39) |
missense |
probably damaging |
1.00 |
R5363:Cyp2a22
|
UTSW |
7 |
26,635,858 (GRCm39) |
missense |
probably damaging |
0.99 |
R5705:Cyp2a22
|
UTSW |
7 |
26,638,640 (GRCm39) |
missense |
probably benign |
0.05 |
R6014:Cyp2a22
|
UTSW |
7 |
26,638,605 (GRCm39) |
splice site |
probably null |
|
R6042:Cyp2a22
|
UTSW |
7 |
26,633,664 (GRCm39) |
missense |
probably damaging |
1.00 |
R6253:Cyp2a22
|
UTSW |
7 |
26,633,657 (GRCm39) |
missense |
probably benign |
0.18 |
R6757:Cyp2a22
|
UTSW |
7 |
26,638,629 (GRCm39) |
missense |
probably benign |
0.00 |
R6994:Cyp2a22
|
UTSW |
7 |
26,638,606 (GRCm39) |
critical splice donor site |
probably null |
|
R7581:Cyp2a22
|
UTSW |
7 |
26,637,573 (GRCm39) |
missense |
possibly damaging |
0.87 |
R8212:Cyp2a22
|
UTSW |
7 |
26,637,205 (GRCm39) |
missense |
possibly damaging |
0.89 |
R9225:Cyp2a22
|
UTSW |
7 |
26,637,202 (GRCm39) |
missense |
possibly damaging |
0.81 |
R9749:Cyp2a22
|
UTSW |
7 |
26,638,715 (GRCm39) |
missense |
probably null |
0.41 |
|
Predicted Primers |
PCR Primer
(F):5'- CCAGTGGAAAATCAATTTGGGAATG -3'
(R):5'- GTTCCCCAAGAGGATGACAAAC -3'
Sequencing Primer
(F):5'- GGCATATCTGAGCATCCA -3'
(R):5'- TCCCCAAGAGGATGACAAACTGATAG -3'
|
Posted On |
2015-08-18 |