Incidental Mutation 'IGL03301:Cyp2ab1'
| ID |
416228 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Cyp2ab1
|
| Ensembl Gene |
ENSMUSG00000022818 |
| Gene Name |
cytochrome P450, family 2, subfamily ab, polypeptide 1 |
| Synonyms |
EG224044 |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL03301
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
16 |
| Chromosomal Location |
20127137-20144154 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 20132549 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Phenylalanine
at position 250
(I250F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000138133
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023513]
[ENSMUST00000182508]
[ENSMUST00000182741]
|
| AlphaFold |
S4R196 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000023513
AA Change: I32F
PolyPhen 2
Score 0.530 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000023513
Gene: ENSMUSG00000022818
AA Change: I32F
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:p450
|
1 |
268 |
3.7e-81 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000182508
AA Change: I32F
PolyPhen 2
Score 0.530 (Sensitivity: 0.88; Specificity: 0.90)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000182669
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000182736
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000182741
AA Change: I250F
PolyPhen 2
Score 0.530 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000138133
Gene: ENSMUSG00000022818
AA Change: I250F
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:p450
|
31 |
486 |
3.3e-121 |
PFAM |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts3 |
T |
C |
5: 89,855,263 (GRCm39) |
E418G |
probably damaging |
Het |
| Arl14 |
T |
C |
3: 69,130,276 (GRCm39) |
F141S |
probably damaging |
Het |
| C1s1 |
A |
T |
6: 124,518,283 (GRCm39) |
|
probably benign |
Het |
| Cilp |
T |
C |
9: 65,187,499 (GRCm39) |
V1198A |
probably benign |
Het |
| Cnbd1 |
A |
T |
4: 19,055,039 (GRCm39) |
I129K |
probably benign |
Het |
| Ctdp1 |
G |
A |
18: 80,492,849 (GRCm39) |
Q549* |
probably null |
Het |
| Dmd |
G |
A |
X: 82,952,120 (GRCm39) |
R1765Q |
probably damaging |
Het |
| Dnah1 |
C |
T |
14: 31,014,649 (GRCm39) |
G1739R |
probably damaging |
Het |
| Eml6 |
T |
C |
11: 29,714,083 (GRCm39) |
K1350E |
probably benign |
Het |
| Ephx4 |
C |
A |
5: 107,574,730 (GRCm39) |
T256K |
probably benign |
Het |
| Fnd3c2 |
G |
T |
X: 105,295,869 (GRCm39) |
Q49K |
probably benign |
Het |
| Heatr1 |
G |
T |
13: 12,449,086 (GRCm39) |
G1889W |
probably damaging |
Het |
| Igkv19-93 |
A |
T |
6: 68,713,465 (GRCm39) |
W55R |
probably damaging |
Het |
| Jak1 |
T |
C |
4: 101,032,370 (GRCm39) |
Y412C |
probably damaging |
Het |
| Moxd1 |
A |
T |
10: 24,155,382 (GRCm39) |
N261I |
probably damaging |
Het |
| Mrgpra1 |
T |
C |
7: 46,985,164 (GRCm39) |
N172D |
probably benign |
Het |
| Papolg |
T |
C |
11: 23,824,503 (GRCm39) |
N293S |
probably benign |
Het |
| Piezo2 |
A |
G |
18: 63,160,775 (GRCm39) |
S2294P |
probably damaging |
Het |
| Ppp3cb |
A |
T |
14: 20,574,052 (GRCm39) |
V262D |
probably damaging |
Het |
| Rhox7a |
A |
G |
X: 36,928,888 (GRCm39) |
T235A |
probably benign |
Het |
| Saal1 |
A |
G |
7: 46,351,944 (GRCm39) |
|
probably benign |
Het |
| Scrn1 |
G |
A |
6: 54,525,322 (GRCm39) |
R16* |
probably null |
Het |
| Slc22a2 |
A |
G |
17: 12,824,926 (GRCm39) |
R263G |
probably damaging |
Het |
| Speer3 |
T |
A |
5: 13,845,447 (GRCm39) |
L160H |
probably damaging |
Het |
| Tmcc2 |
T |
C |
1: 132,288,557 (GRCm39) |
M377V |
possibly damaging |
Het |
| Tsen2 |
T |
G |
6: 115,545,732 (GRCm39) |
Y341D |
probably damaging |
Het |
| Vmn2r13 |
A |
T |
5: 109,305,955 (GRCm39) |
V541D |
probably damaging |
Het |
| Vmn2r15 |
A |
G |
5: 109,445,221 (GRCm39) |
|
probably null |
Het |
| Zfp711 |
T |
C |
X: 111,543,098 (GRCm39) |
Y710H |
probably damaging |
Het |
| Zmiz2 |
C |
T |
11: 6,351,170 (GRCm39) |
T566M |
probably damaging |
Het |
|
| Other mutations in Cyp2ab1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02259:Cyp2ab1
|
APN |
16 |
20,131,897 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2073:Cyp2ab1
|
UTSW |
16 |
20,132,639 (GRCm39) |
missense |
possibly damaging |
0.57 |
|
R4657:Cyp2ab1
|
UTSW |
16 |
20,131,822 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4851:Cyp2ab1
|
UTSW |
16 |
20,133,814 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5546:Cyp2ab1
|
UTSW |
16 |
20,132,507 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5845:Cyp2ab1
|
UTSW |
16 |
20,131,082 (GRCm39) |
missense |
probably benign |
0.02 |
|
R7177:Cyp2ab1
|
UTSW |
16 |
20,135,469 (GRCm39) |
missense |
probably null |
0.99 |
|
R7251:Cyp2ab1
|
UTSW |
16 |
20,134,646 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
R7410:Cyp2ab1
|
UTSW |
16 |
20,135,475 (GRCm39) |
missense |
probably benign |
|
|
R7798:Cyp2ab1
|
UTSW |
16 |
20,131,166 (GRCm39) |
missense |
probably benign |
0.04 |
|
R8053:Cyp2ab1
|
UTSW |
16 |
20,133,018 (GRCm39) |
missense |
probably benign |
0.35 |
|
R9597:Cyp2ab1
|
UTSW |
16 |
20,135,340 (GRCm39) |
missense |
probably benign |
|
|
R9741:Cyp2ab1
|
UTSW |
16 |
20,132,953 (GRCm39) |
missense |
probably damaging |
0.99 |
|
Z1177:Cyp2ab1
|
UTSW |
16 |
20,132,631 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
| Posted On |
2016-08-02 |
Incidental Mutation