Incidental Mutation 'R8302:Cyp2c40'
| ID |
646478 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cyp2c40
|
| Ensembl Gene |
ENSMUSG00000025004 |
| Gene Name |
cytochrome P450, family 2, subfamily c, polypeptide 40 |
| Synonyms |
|
| MMRRC Submission |
067790-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.088)
|
| Stock # |
R8302 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
19 |
| Chromosomal Location |
39755517-39801258 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 39796066 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 104
(V104A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000125217
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000160476]
[ENSMUST00000162507]
[ENSMUST00000162630]
|
| AlphaFold |
P56657 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000160476
AA Change: V104A
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000125217
Gene: ENSMUSG00000025004
AA Change: V104A
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
5 |
21 |
N/A |
INTRINSIC |
|
transmembrane domain
|
32 |
49 |
N/A |
INTRINSIC |
|
Pfam:p450
|
59 |
516 |
9.8e-153 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000162507
AA Change: V59A
PolyPhen 2
Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000124618
Gene: ENSMUSG00000025004
AA Change: V59A
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
25 |
N/A |
INTRINSIC |
|
Pfam:p450
|
30 |
120 |
3.1e-13 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000162630
AA Change: V104A
PolyPhen 2
Score 0.982 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000123884
Gene: ENSMUSG00000025004
AA Change: V104A
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
5 |
21 |
N/A |
INTRINSIC |
|
transmembrane domain
|
32 |
49 |
N/A |
INTRINSIC |
|
Pfam:p450
|
59 |
193 |
6.6e-33 |
PFAM |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.7%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 50 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca8b |
C |
T |
11: 109,853,406 (GRCm39) |
|
probably null |
Het |
| Ank3 |
T |
C |
10: 69,840,810 (GRCm39) |
S1937P |
possibly damaging |
Het |
| Atg5 |
T |
A |
10: 44,162,115 (GRCm39) |
D10E |
probably benign |
Het |
| Car12 |
A |
G |
9: 66,654,879 (GRCm39) |
D103G |
probably benign |
Het |
| Cpa3 |
A |
G |
3: 20,276,316 (GRCm39) |
Y306H |
probably damaging |
Het |
| Cyp2c66 |
A |
T |
19: 39,165,078 (GRCm39) |
H353L |
probably damaging |
Het |
| Cyp2d22 |
A |
G |
15: 82,256,021 (GRCm39) |
|
probably null |
Het |
| Dcp1a |
A |
G |
14: 30,244,883 (GRCm39) |
T570A |
possibly damaging |
Het |
| Exph5 |
A |
G |
9: 53,287,776 (GRCm39) |
E1619G |
possibly damaging |
Het |
| Frmd5 |
T |
A |
2: 121,378,060 (GRCm39) |
T435S |
unknown |
Het |
| Gm3371 |
T |
C |
14: 44,641,181 (GRCm39) |
R128G |
|
Het |
| Gper1 |
A |
G |
5: 139,412,030 (GRCm39) |
D125G |
probably benign |
Het |
| Il17re |
C |
A |
6: 113,443,280 (GRCm39) |
S340* |
probably null |
Het |
| Kazald1 |
T |
A |
19: 45,065,278 (GRCm39) |
L53Q |
probably damaging |
Het |
| Kdm3b |
A |
T |
18: 34,967,388 (GRCm39) |
H1731L |
probably damaging |
Het |
| Kif20a |
T |
C |
18: 34,765,030 (GRCm39) |
S755P |
probably damaging |
Het |
| Lrch1 |
T |
C |
14: 75,032,772 (GRCm39) |
N526S |
probably benign |
Het |
| Map3k8 |
T |
C |
18: 4,334,064 (GRCm39) |
I343V |
probably damaging |
Het |
| Nabp1 |
A |
T |
1: 51,511,498 (GRCm39) |
F140L |
probably benign |
Het |
| Ncor1 |
A |
G |
11: 62,224,681 (GRCm39) |
S860P |
probably benign |
Het |
| Ndufaf5 |
T |
A |
2: 140,030,698 (GRCm39) |
Y195N |
possibly damaging |
Het |
| Nsfl1c |
T |
C |
2: 151,346,056 (GRCm39) |
L157P |
probably damaging |
Het |
| Or2aj5 |
T |
A |
16: 19,425,116 (GRCm39) |
I100L |
probably benign |
Het |
| Or4c104 |
T |
A |
2: 88,586,987 (GRCm39) |
I11F |
possibly damaging |
Het |
| Or5ak24 |
T |
A |
2: 85,260,430 (GRCm39) |
T248S |
possibly damaging |
Het |
| Pcdh10 |
A |
G |
3: 45,335,933 (GRCm39) |
Y749C |
probably damaging |
Het |
| Plcz1 |
T |
A |
6: 139,974,163 (GRCm39) |
K93I |
probably damaging |
Het |
| Plpbp |
T |
C |
8: 27,539,216 (GRCm39) |
S109P |
|
Het |
| Prkdc |
G |
A |
16: 15,653,946 (GRCm39) |
R3901H |
probably damaging |
Het |
| Psma6 |
A |
T |
12: 55,456,966 (GRCm39) |
Y103F |
probably benign |
Het |
| Ptpn3 |
A |
G |
4: 57,218,514 (GRCm39) |
F650L |
probably benign |
Het |
| Pxk |
T |
C |
14: 8,164,094 (GRCm38) |
F562S |
probably damaging |
Het |
| Rbl2 |
A |
G |
8: 91,812,073 (GRCm39) |
D214G |
probably damaging |
Het |
| Rgs17 |
C |
T |
10: 5,812,525 (GRCm39) |
C58Y |
possibly damaging |
Het |
| Rnf6 |
A |
T |
5: 146,148,334 (GRCm39) |
V228E |
probably benign |
Het |
| Sardh |
T |
C |
2: 27,105,122 (GRCm39) |
D667G |
probably benign |
Het |
| Slc12a1 |
T |
A |
2: 125,032,209 (GRCm39) |
V620D |
probably damaging |
Het |
| Slc39a7 |
A |
G |
17: 34,249,686 (GRCm39) |
I153T |
probably damaging |
Het |
| Slc5a11 |
T |
C |
7: 122,847,162 (GRCm39) |
V125A |
probably damaging |
Het |
| Slc9c1 |
T |
C |
16: 45,368,058 (GRCm39) |
F216L |
probably benign |
Het |
| Strip1 |
A |
T |
3: 107,533,024 (GRCm39) |
I208N |
probably damaging |
Het |
| Top1 |
T |
C |
2: 160,545,496 (GRCm39) |
M288T |
probably damaging |
Het |
| Tpbgl |
G |
T |
7: 99,274,774 (GRCm39) |
A361E |
probably damaging |
Het |
| Trmt2a |
T |
C |
16: 18,067,813 (GRCm39) |
V162A |
probably damaging |
Het |
| Wdr35 |
T |
C |
12: 9,078,110 (GRCm39) |
I1167T |
probably benign |
Het |
| Wdr76 |
C |
A |
2: 121,341,044 (GRCm39) |
H30N |
probably benign |
Het |
| Zan |
A |
G |
5: 137,407,923 (GRCm39) |
S3624P |
unknown |
Het |
| Zc3h7a |
T |
C |
16: 10,955,249 (GRCm39) |
K942E |
probably damaging |
Het |
| Zfp292 |
A |
G |
4: 34,810,893 (GRCm39) |
V722A |
possibly damaging |
Het |
| Zfp943 |
A |
G |
17: 22,211,091 (GRCm39) |
H59R |
probably benign |
Het |
|
| Other mutations in Cyp2c40 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01384:Cyp2c40
|
APN |
19 |
39,801,027 (GRCm39) |
missense |
probably benign |
0.17 |
|
IGL01660:Cyp2c40
|
APN |
19 |
39,775,254 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL01897:Cyp2c40
|
APN |
19 |
39,792,217 (GRCm39) |
nonsense |
probably null |
|
|
IGL01926:Cyp2c40
|
APN |
19 |
39,791,099 (GRCm39) |
missense |
probably benign |
0.25 |
|
IGL02078:Cyp2c40
|
APN |
19 |
39,755,926 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL02259:Cyp2c40
|
APN |
19 |
39,792,246 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02716:Cyp2c40
|
APN |
19 |
39,795,980 (GRCm39) |
missense |
possibly damaging |
0.49 |
|
cypriot
|
UTSW |
19 |
39,755,899 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0269:Cyp2c40
|
UTSW |
19 |
39,762,340 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0308:Cyp2c40
|
UTSW |
19 |
39,766,432 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0309:Cyp2c40
|
UTSW |
19 |
39,766,495 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
R0441:Cyp2c40
|
UTSW |
19 |
39,795,607 (GRCm39) |
splice site |
probably benign |
|
|
R1068:Cyp2c40
|
UTSW |
19 |
39,801,025 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R1123:Cyp2c40
|
UTSW |
19 |
39,801,121 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1443:Cyp2c40
|
UTSW |
19 |
39,766,415 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R1506:Cyp2c40
|
UTSW |
19 |
39,766,443 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R1567:Cyp2c40
|
UTSW |
19 |
39,792,215 (GRCm39) |
missense |
probably null |
0.99 |
|
R1731:Cyp2c40
|
UTSW |
19 |
39,801,133 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1774:Cyp2c40
|
UTSW |
19 |
39,775,250 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1861:Cyp2c40
|
UTSW |
19 |
39,775,319 (GRCm39) |
missense |
probably benign |
0.11 |
|
R1977:Cyp2c40
|
UTSW |
19 |
39,766,485 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2022:Cyp2c40
|
UTSW |
19 |
39,801,224 (GRCm39) |
unclassified |
probably benign |
|
|
R2063:Cyp2c40
|
UTSW |
19 |
39,775,224 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2359:Cyp2c40
|
UTSW |
19 |
39,766,398 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2413:Cyp2c40
|
UTSW |
19 |
39,792,331 (GRCm39) |
nonsense |
probably null |
|
|
R3685:Cyp2c40
|
UTSW |
19 |
39,775,223 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R4080:Cyp2c40
|
UTSW |
19 |
39,790,973 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4614:Cyp2c40
|
UTSW |
19 |
39,792,300 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4661:Cyp2c40
|
UTSW |
19 |
39,775,290 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4716:Cyp2c40
|
UTSW |
19 |
39,791,105 (GRCm39) |
splice site |
probably null |
|
|
R4799:Cyp2c40
|
UTSW |
19 |
39,762,293 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5133:Cyp2c40
|
UTSW |
19 |
39,795,663 (GRCm39) |
missense |
probably benign |
0.02 |
|
R5191:Cyp2c40
|
UTSW |
19 |
39,791,035 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R5310:Cyp2c40
|
UTSW |
19 |
39,766,474 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5455:Cyp2c40
|
UTSW |
19 |
39,792,236 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
R5619:Cyp2c40
|
UTSW |
19 |
39,792,228 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5989:Cyp2c40
|
UTSW |
19 |
39,796,024 (GRCm39) |
missense |
probably benign |
0.45 |
|
R6175:Cyp2c40
|
UTSW |
19 |
39,801,004 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6622:Cyp2c40
|
UTSW |
19 |
39,790,990 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6987:Cyp2c40
|
UTSW |
19 |
39,801,211 (GRCm39) |
unclassified |
probably benign |
|
|
R7057:Cyp2c40
|
UTSW |
19 |
39,796,063 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7485:Cyp2c40
|
UTSW |
19 |
39,796,050 (GRCm39) |
nonsense |
probably null |
|
|
R7560:Cyp2c40
|
UTSW |
19 |
39,795,658 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R7648:Cyp2c40
|
UTSW |
19 |
39,792,289 (GRCm39) |
makesense |
probably null |
|
|
R7718:Cyp2c40
|
UTSW |
19 |
39,755,782 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7763:Cyp2c40
|
UTSW |
19 |
39,795,612 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R7893:Cyp2c40
|
UTSW |
19 |
39,775,292 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8094:Cyp2c40
|
UTSW |
19 |
39,791,015 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8094:Cyp2c40
|
UTSW |
19 |
39,791,009 (GRCm39) |
missense |
probably benign |
0.17 |
|
R8264:Cyp2c40
|
UTSW |
19 |
39,795,971 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R8287:Cyp2c40
|
UTSW |
19 |
39,755,899 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8848:Cyp2c40
|
UTSW |
19 |
39,801,244 (GRCm39) |
missense |
unknown |
|
|
R8915:Cyp2c40
|
UTSW |
19 |
39,795,991 (GRCm39) |
missense |
probably benign |
0.31 |
|
R8963:Cyp2c40
|
UTSW |
19 |
39,755,926 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R9132:Cyp2c40
|
UTSW |
19 |
39,762,317 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9159:Cyp2c40
|
UTSW |
19 |
39,762,317 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9168:Cyp2c40
|
UTSW |
19 |
39,755,819 (GRCm39) |
missense |
probably benign |
|
|
R9486:Cyp2c40
|
UTSW |
19 |
39,796,050 (GRCm39) |
nonsense |
probably null |
|
|
R9486:Cyp2c40
|
UTSW |
19 |
39,755,808 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9489:Cyp2c40
|
UTSW |
19 |
39,766,443 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9605:Cyp2c40
|
UTSW |
19 |
39,766,443 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9772:Cyp2c40
|
UTSW |
19 |
39,792,348 (GRCm39) |
missense |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- AGCTTGCTCTGGAAACTGTC -3'
(R):5'- TTCTGGCATACTGTAAGCCATG -3'
Sequencing Primer
(F):5'- GGAAACTGTCCAGTATACACATAAG -3'
(R):5'- CTGGCATACTGTAAGCCATGAATAC -3'
|
| Posted On |
2020-09-02 |
Incidental Mutation