Incidental Mutation 'IGL03350:Cyp2a22'
ID |
419663 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Cyp2a22
|
Ensembl Gene |
ENSMUSG00000091867 |
Gene Name |
cytochrome P450, family 2, subfamily a, polypeptide 22 |
Synonyms |
EG233005 |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.082)
|
Stock # |
IGL03350
|
Quality Score |
|
Status
|
|
Chromosome |
7 |
Chromosomal Location |
26631056-26638809 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 26634279 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Alanine
at position 292
(T292A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000128030
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000170227]
|
AlphaFold |
B2RXZ2 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000170227
AA Change: T292A
PolyPhen 2
Score 0.881 (Sensitivity: 0.82; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000128030 Gene: ENSMUSG00000091867 AA Change: T292A
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 |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 45 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adam26a |
A |
T |
8: 44,022,589 (GRCm39) |
Y300* |
probably null |
Het |
Adgre1 |
T |
A |
17: 57,708,908 (GRCm39) |
V33E |
probably benign |
Het |
AI987944 |
A |
G |
7: 41,042,661 (GRCm39) |
|
probably benign |
Het |
Atp4a |
T |
C |
7: 30,420,292 (GRCm39) |
L813P |
probably damaging |
Het |
Blmh |
A |
G |
11: 76,862,774 (GRCm39) |
N396D |
probably damaging |
Het |
Brat1 |
T |
C |
5: 140,691,750 (GRCm39) |
L9P |
probably damaging |
Het |
Ccdc171 |
T |
C |
4: 83,599,615 (GRCm39) |
I810T |
possibly damaging |
Het |
Clec2m |
C |
A |
6: 129,307,986 (GRCm39) |
V28L |
probably benign |
Het |
Ecm2 |
C |
T |
13: 49,674,420 (GRCm39) |
T280I |
probably benign |
Het |
Fa2h |
C |
T |
8: 112,075,928 (GRCm39) |
V232I |
probably benign |
Het |
Fbxw24 |
T |
C |
9: 109,436,081 (GRCm39) |
D317G |
probably damaging |
Het |
Flt4 |
C |
A |
11: 49,525,620 (GRCm39) |
S722* |
probably null |
Het |
Fryl |
T |
C |
5: 73,290,649 (GRCm39) |
Q85R |
probably damaging |
Het |
Gm3239 |
A |
G |
14: 15,882,083 (GRCm39) |
R188G |
possibly damaging |
Het |
Hspa13 |
A |
T |
16: 75,554,717 (GRCm39) |
S456R |
probably damaging |
Het |
Htr1b |
T |
C |
9: 81,514,175 (GRCm39) |
Y144C |
probably damaging |
Het |
Hydin |
A |
G |
8: 111,038,856 (GRCm39) |
H198R |
possibly damaging |
Het |
Krt78 |
A |
T |
15: 101,854,952 (GRCm39) |
M953K |
probably benign |
Het |
Lgr5 |
G |
T |
10: 115,307,893 (GRCm39) |
T255K |
probably damaging |
Het |
Lrp2 |
T |
A |
2: 69,268,797 (GRCm39) |
D4162V |
probably damaging |
Het |
Map3k2 |
A |
G |
18: 32,345,201 (GRCm39) |
D342G |
probably damaging |
Het |
Miip |
A |
G |
4: 147,946,979 (GRCm39) |
V258A |
probably benign |
Het |
Muc6 |
T |
C |
7: 141,238,324 (GRCm39) |
H52R |
probably damaging |
Het |
Nfs1 |
T |
C |
2: 155,969,660 (GRCm39) |
E329G |
probably benign |
Het |
Npsr1 |
T |
C |
9: 24,009,605 (GRCm39) |
V37A |
probably benign |
Het |
Or1ak2 |
T |
C |
2: 36,827,595 (GRCm39) |
Y155H |
probably damaging |
Het |
Or1e17 |
A |
T |
11: 73,831,664 (GRCm39) |
L197F |
probably damaging |
Het |
Or5aq1b |
A |
C |
2: 86,901,904 (GRCm39) |
D191E |
probably damaging |
Het |
Pex16 |
T |
A |
2: 92,207,842 (GRCm39) |
M98K |
probably damaging |
Het |
Pla2r1 |
C |
T |
2: 60,285,517 (GRCm39) |
C699Y |
probably damaging |
Het |
Plcd4 |
A |
T |
1: 74,588,460 (GRCm39) |
D103V |
probably damaging |
Het |
Pnpla1 |
A |
G |
17: 29,095,966 (GRCm39) |
D129G |
probably damaging |
Het |
Rad23a |
T |
C |
8: 85,564,108 (GRCm39) |
E265G |
possibly damaging |
Het |
Rbm11 |
C |
T |
16: 75,397,696 (GRCm39) |
P209S |
probably benign |
Het |
Ribc2 |
T |
A |
15: 85,019,703 (GRCm39) |
W162R |
probably damaging |
Het |
Rnf4 |
A |
G |
5: 34,504,204 (GRCm39) |
E32G |
possibly damaging |
Het |
Rpe65 |
A |
T |
3: 159,320,154 (GRCm39) |
S269C |
possibly damaging |
Het |
Slc7a14 |
T |
A |
3: 31,291,558 (GRCm39) |
Y240F |
probably benign |
Het |
Sorbs2 |
C |
T |
8: 46,258,844 (GRCm39) |
P1047L |
probably damaging |
Het |
Ttn |
T |
C |
2: 76,580,166 (GRCm39) |
I23576V |
probably damaging |
Het |
Usp24 |
T |
G |
4: 106,228,276 (GRCm39) |
Y780* |
probably null |
Het |
Wee2 |
T |
C |
6: 40,426,665 (GRCm39) |
S145P |
probably damaging |
Het |
Zcchc7 |
A |
G |
4: 44,931,188 (GRCm39) |
T126A |
probably benign |
Het |
Zpld1 |
A |
G |
16: 55,061,692 (GRCm39) |
|
probably benign |
Het |
Zup1 |
G |
A |
10: 33,804,107 (GRCm39) |
R456C |
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 |
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 |
R4528:Cyp2a22
|
UTSW |
7 |
26,634,194 (GRCm39) |
missense |
possibly damaging |
0.95 |
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 |
|
Posted On |
2016-08-02 |