Incidental Mutation 'R4080:Cyp2c40'
ID |
316856 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Cyp2c40
|
Ensembl Gene |
ENSMUSG00000025004 |
Gene Name |
cytochrome P450, family 2, subfamily c, polypeptide 40 |
Synonyms |
|
MMRRC Submission |
040856-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.088)
|
Stock # |
R4080 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
19 |
Chromosomal Location |
39755517-39801258 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 39790973 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Alanine
at position 286
(V286A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000125217
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000160476]
[ENSMUST00000162507]
[ENSMUST00000162630]
|
AlphaFold |
P56657 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000160476
AA Change: V286A
PolyPhen 2
Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)
|
SMART Domains |
Protein: ENSMUSP00000125217 Gene: ENSMUSG00000025004 AA Change: V286A
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 |
noncoding transcript
Transcript: ENSMUST00000162434
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000162507
|
SMART Domains |
Protein: ENSMUSP00000124618 Gene: ENSMUSG00000025004
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
25 |
N/A |
INTRINSIC |
Pfam:p450
|
30 |
120 |
3.1e-13 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000162630
|
SMART Domains |
Protein: ENSMUSP00000123884 Gene: ENSMUSG00000025004
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 |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000163090
|
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.9%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 67 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aass |
A |
T |
6: 23,109,497 (GRCm39) |
D324E |
possibly damaging |
Het |
Adam7 |
T |
C |
14: 68,757,988 (GRCm39) |
T245A |
probably benign |
Het |
Adgrf3 |
G |
A |
5: 30,402,367 (GRCm39) |
Q554* |
probably null |
Het |
Aim2 |
T |
C |
1: 173,287,417 (GRCm39) |
|
probably null |
Het |
Arhgef1 |
G |
T |
7: 24,625,271 (GRCm39) |
D850Y |
probably damaging |
Het |
Aspm |
C |
A |
1: 139,398,493 (GRCm39) |
Q1024K |
probably damaging |
Het |
C7 |
T |
C |
15: 5,019,946 (GRCm39) |
S734G |
probably benign |
Het |
Ccdc158 |
A |
T |
5: 92,771,255 (GRCm39) |
S987T |
probably benign |
Het |
Chrna2 |
C |
A |
14: 66,380,873 (GRCm39) |
Y47* |
probably null |
Het |
Chrna2 |
G |
T |
14: 66,380,866 (GRCm39) |
G45V |
probably benign |
Het |
Clec2g |
C |
A |
6: 128,958,287 (GRCm39) |
Q117K |
probably damaging |
Het |
Cntnap5a |
A |
G |
1: 116,029,304 (GRCm39) |
S253G |
probably benign |
Het |
Cttn |
T |
A |
7: 144,011,461 (GRCm39) |
D116V |
probably damaging |
Het |
Dcbld2 |
T |
A |
16: 58,285,736 (GRCm39) |
S632T |
probably damaging |
Het |
Dscam |
A |
T |
16: 96,484,972 (GRCm39) |
N1118K |
probably benign |
Het |
Eif2a |
C |
T |
3: 58,447,050 (GRCm39) |
T92M |
possibly damaging |
Het |
Frmpd1 |
T |
A |
4: 45,284,382 (GRCm39) |
C1068S |
probably benign |
Het |
Fstl1 |
G |
A |
16: 37,642,965 (GRCm39) |
V110I |
probably benign |
Het |
Gpat2 |
T |
C |
2: 127,275,542 (GRCm39) |
I465T |
probably damaging |
Het |
Gpr137 |
C |
T |
19: 6,917,791 (GRCm39) |
|
probably benign |
Het |
Hgsnat |
A |
G |
8: 26,436,371 (GRCm39) |
I561T |
probably benign |
Het |
Ift74 |
T |
A |
4: 94,541,149 (GRCm39) |
|
probably null |
Het |
Ilf3 |
A |
G |
9: 21,314,430 (GRCm39) |
|
probably null |
Het |
Kcnh8 |
GAGACCAACGAGCAGCTGATGCTTCAGA |
GAGA |
17: 53,032,934 (GRCm39) |
74 |
probably benign |
Het |
Klk14 |
G |
A |
7: 43,341,501 (GRCm39) |
C51Y |
probably damaging |
Het |
Lrrc41 |
C |
A |
4: 115,937,743 (GRCm39) |
|
probably null |
Het |
Myh11 |
C |
A |
16: 14,041,923 (GRCm39) |
R700L |
possibly damaging |
Het |
Myo16 |
A |
G |
8: 10,612,240 (GRCm39) |
D1295G |
probably damaging |
Het |
Myo5b |
A |
G |
18: 74,873,559 (GRCm39) |
M1488V |
probably benign |
Het |
Naip6 |
A |
T |
13: 100,435,815 (GRCm39) |
Y903N |
probably damaging |
Het |
Nek6 |
A |
G |
2: 38,440,649 (GRCm39) |
H19R |
probably damaging |
Het |
Nktr |
A |
C |
9: 121,570,192 (GRCm39) |
T127P |
probably damaging |
Het |
Noc4l |
A |
T |
5: 110,797,738 (GRCm39) |
D335E |
probably benign |
Het |
Nsd1 |
A |
G |
13: 55,449,622 (GRCm39) |
D1993G |
probably damaging |
Het |
Or1ad1 |
G |
A |
11: 50,875,683 (GRCm39) |
D52N |
probably damaging |
Het |
Or5h22 |
A |
T |
16: 58,894,619 (GRCm39) |
F275I |
probably damaging |
Het |
Pabpc2 |
A |
T |
18: 39,908,583 (GRCm39) |
Q616L |
possibly damaging |
Het |
Pcdhga4 |
A |
T |
18: 37,818,832 (GRCm39) |
D127V |
probably damaging |
Het |
Phrf1 |
T |
C |
7: 140,839,633 (GRCm39) |
|
probably benign |
Het |
Phtf2 |
T |
A |
5: 21,018,294 (GRCm39) |
I16F |
probably damaging |
Het |
Plekhg3 |
G |
T |
12: 76,624,755 (GRCm39) |
R1200L |
probably benign |
Het |
Plod3 |
G |
C |
5: 137,017,000 (GRCm39) |
A50P |
probably benign |
Het |
Prorp |
G |
T |
12: 55,351,398 (GRCm39) |
V236F |
possibly damaging |
Het |
Prss12 |
A |
G |
3: 123,279,134 (GRCm39) |
N404D |
probably benign |
Het |
Ptch2 |
C |
G |
4: 116,968,403 (GRCm39) |
A926G |
probably damaging |
Het |
Ptpra |
T |
C |
2: 30,333,317 (GRCm39) |
F6L |
probably damaging |
Het |
Reck |
T |
C |
4: 43,942,293 (GRCm39) |
I853T |
possibly damaging |
Het |
Reep6 |
G |
A |
10: 80,165,996 (GRCm39) |
|
probably benign |
Het |
Rex2 |
T |
A |
4: 147,143,154 (GRCm39) |
S547R |
probably benign |
Het |
Rgs22 |
C |
T |
15: 36,107,222 (GRCm39) |
E55K |
probably damaging |
Het |
Rtl6 |
T |
C |
15: 84,441,202 (GRCm39) |
T65A |
possibly damaging |
Het |
Scarb1 |
G |
T |
5: 125,354,859 (GRCm39) |
P491Q |
probably damaging |
Het |
Scfd1 |
A |
G |
12: 51,478,302 (GRCm39) |
S505G |
probably benign |
Het |
Scube1 |
T |
G |
15: 83,492,948 (GRCm39) |
Q904P |
probably damaging |
Het |
Sis |
T |
C |
3: 72,828,517 (GRCm39) |
Y1186C |
probably damaging |
Het |
Spta1 |
A |
G |
1: 174,041,632 (GRCm39) |
D1334G |
probably benign |
Het |
Spty2d1 |
T |
C |
7: 46,648,329 (GRCm39) |
E200G |
probably damaging |
Het |
Stard13 |
C |
A |
5: 151,016,294 (GRCm39) |
|
probably null |
Het |
Sybu |
T |
C |
15: 44,582,339 (GRCm39) |
K95R |
probably damaging |
Het |
Trappc9 |
T |
A |
15: 72,813,796 (GRCm39) |
D488V |
probably damaging |
Het |
Txk |
G |
A |
5: 72,858,006 (GRCm39) |
P381S |
probably damaging |
Het |
Ubr2 |
A |
T |
17: 47,299,648 (GRCm39) |
M198K |
probably benign |
Het |
Unc5a |
A |
T |
13: 55,152,294 (GRCm39) |
T786S |
possibly damaging |
Het |
Unc93b1 |
G |
A |
19: 3,991,959 (GRCm39) |
R231Q |
probably damaging |
Het |
Wfdc1 |
T |
A |
8: 120,410,532 (GRCm39) |
|
probably null |
Het |
Zfp667 |
T |
G |
7: 6,308,105 (GRCm39) |
C258G |
possibly damaging |
Het |
Zfr |
G |
A |
15: 12,162,319 (GRCm39) |
R823H |
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 |
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 |
R8302:Cyp2c40
|
UTSW |
19 |
39,796,066 (GRCm39) |
missense |
probably damaging |
1.00 |
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'- AAAATCACCCTGTTCCTCTCAG -3'
(R):5'- ACTCAAACGATATGTGAGTGTGG -3'
Sequencing Primer
(F):5'- TCTCAGCCATTCCCACACATG -3'
(R):5'- ACGATATGTGAGTGTGGAAATATTG -3'
|
Posted On |
2015-05-15 |