Incidental Mutation 'R1443:Cyp2c40'
| ID |
158688 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cyp2c40
|
| Ensembl Gene |
ENSMUSG00000025004 |
| Gene Name |
cytochrome P450, family 2, subfamily c, polypeptide 40 |
| Synonyms |
|
| MMRRC Submission |
039498-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.126)
|
| Stock # |
R1443 (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 T
at 39766415 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Lysine
at position 393
(N393K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000125217
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000160476]
[ENSMUST00000162630]
|
| AlphaFold |
P56657 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000160476
AA Change: N393K
PolyPhen 2
Score 0.897 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000125217
Gene: ENSMUSG00000025004
AA Change: N393K
| 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 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 |
|
| Coding Region Coverage |
- 1x: 98.8%
- 3x: 97.7%
- 10x: 94.2%
- 20x: 85.7%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 60 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Actr8 |
A |
G |
14: 29,706,056 (GRCm39) |
M99V |
possibly damaging |
Het |
| Adamtsl2 |
T |
A |
2: 26,993,078 (GRCm39) |
C703S |
possibly damaging |
Het |
| Afap1 |
G |
T |
5: 36,126,005 (GRCm39) |
K333N |
probably damaging |
Het |
| Aldh3a2 |
G |
A |
11: 61,155,133 (GRCm39) |
S137L |
probably damaging |
Het |
| Alkbh2 |
C |
T |
5: 114,262,287 (GRCm39) |
E148K |
probably damaging |
Het |
| Aoc1 |
A |
T |
6: 48,882,379 (GRCm39) |
K107M |
possibly damaging |
Het |
| Aoc1l1 |
A |
T |
6: 48,952,849 (GRCm39) |
Y258F |
probably damaging |
Het |
| Bltp2 |
T |
A |
11: 78,153,624 (GRCm39) |
S56R |
probably damaging |
Het |
| Bmp8a |
G |
T |
4: 123,210,758 (GRCm39) |
S252R |
possibly damaging |
Het |
| C7 |
T |
C |
15: 5,088,901 (GRCm39) |
I13M |
probably benign |
Het |
| Cblb |
T |
A |
16: 51,959,974 (GRCm39) |
D322E |
possibly damaging |
Het |
| Cfap54 |
G |
A |
10: 92,768,583 (GRCm39) |
T180I |
probably damaging |
Het |
| Clrn2 |
C |
T |
5: 45,617,453 (GRCm39) |
A108V |
probably damaging |
Het |
| Cspg4 |
T |
A |
9: 56,793,796 (GRCm39) |
D510E |
probably damaging |
Het |
| Dcaf5 |
T |
C |
12: 80,410,843 (GRCm39) |
Y294C |
probably damaging |
Het |
| Dclk3 |
T |
A |
9: 111,298,088 (GRCm39) |
M544K |
probably benign |
Het |
| Ell3 |
A |
T |
2: 121,269,946 (GRCm39) |
F388I |
probably damaging |
Het |
| Fam78b |
A |
G |
1: 166,906,329 (GRCm39) |
I163V |
probably damaging |
Het |
| Gnptab |
T |
C |
10: 88,269,943 (GRCm39) |
L882P |
probably damaging |
Het |
| Herc2 |
A |
T |
7: 55,854,481 (GRCm39) |
D3802V |
possibly damaging |
Het |
| Hs3st5 |
A |
G |
10: 36,709,410 (GRCm39) |
E315G |
probably benign |
Het |
| Idh3b |
A |
T |
2: 130,125,974 (GRCm39) |
|
probably null |
Het |
| Lama4 |
G |
A |
10: 38,949,639 (GRCm39) |
E911K |
probably damaging |
Het |
| Macf1 |
A |
G |
4: 123,404,800 (GRCm39) |
I436T |
probably damaging |
Het |
| Mgam |
C |
A |
6: 40,736,714 (GRCm39) |
S871* |
probably null |
Het |
| Mtmr7 |
A |
G |
8: 41,013,923 (GRCm39) |
S212P |
probably damaging |
Het |
| Mylk2 |
A |
G |
2: 152,761,336 (GRCm39) |
T480A |
probably damaging |
Het |
| Myo3a |
A |
T |
2: 22,287,437 (GRCm39) |
N191I |
probably damaging |
Het |
| Nanog |
C |
T |
6: 122,688,734 (GRCm39) |
S105F |
probably damaging |
Het |
| Nanos2 |
A |
G |
7: 18,721,564 (GRCm39) |
Y12C |
probably damaging |
Het |
| Nsg1 |
C |
T |
5: 38,312,987 (GRCm39) |
V71I |
probably benign |
Het |
| Or10g3 |
A |
T |
14: 52,610,408 (GRCm39) |
I34N |
probably damaging |
Het |
| Or13a1 |
T |
C |
6: 116,471,386 (GRCm39) |
L272S |
probably benign |
Het |
| Or2ad1 |
C |
T |
13: 21,326,337 (GRCm39) |
V297I |
probably benign |
Het |
| Or51a42 |
A |
T |
7: 103,707,930 (GRCm39) |
I293N |
probably damaging |
Het |
| Or5b105 |
G |
T |
19: 13,080,568 (GRCm39) |
Y33* |
probably null |
Het |
| Pcdhb17 |
A |
G |
18: 37,619,701 (GRCm39) |
Q497R |
probably benign |
Het |
| Pcsk7 |
C |
A |
9: 45,837,284 (GRCm39) |
P536Q |
probably damaging |
Het |
| Phactr4 |
G |
A |
4: 132,104,559 (GRCm39) |
T256I |
probably benign |
Het |
| Phyhip |
A |
G |
14: 70,704,731 (GRCm39) |
K317E |
probably damaging |
Het |
| Pkhd1 |
C |
T |
1: 20,604,782 (GRCm39) |
G1178R |
probably damaging |
Het |
| Ppp1r9a |
G |
A |
6: 5,057,557 (GRCm39) |
G544D |
probably damaging |
Het |
| Ptpn3 |
T |
C |
4: 57,225,775 (GRCm39) |
D480G |
probably benign |
Het |
| Ptprn2 |
A |
T |
12: 117,217,235 (GRCm39) |
K918N |
probably damaging |
Het |
| Rab42 |
T |
C |
4: 132,029,658 (GRCm39) |
D188G |
probably benign |
Het |
| Rasgrf2 |
C |
A |
13: 92,131,795 (GRCm39) |
D20Y |
probably damaging |
Het |
| Ryr2 |
G |
A |
13: 11,794,152 (GRCm39) |
T942I |
probably benign |
Het |
| Sbpl |
T |
C |
17: 24,172,328 (GRCm39) |
K197R |
unknown |
Het |
| Slc44a1 |
T |
A |
4: 53,561,069 (GRCm39) |
V595E |
probably damaging |
Het |
| Slc6a19 |
A |
G |
13: 73,832,463 (GRCm39) |
M410T |
probably damaging |
Het |
| Sntb1 |
A |
T |
15: 55,511,351 (GRCm39) |
L411H |
probably damaging |
Het |
| Synj2 |
A |
G |
17: 6,073,940 (GRCm39) |
K245E |
probably damaging |
Het |
| Tasor2 |
T |
C |
13: 3,625,543 (GRCm39) |
K1469R |
probably benign |
Het |
| Tmem131 |
G |
A |
1: 36,864,559 (GRCm39) |
T558I |
probably damaging |
Het |
| Tnrc18 |
A |
T |
5: 142,757,288 (GRCm39) |
S1078T |
unknown |
Het |
| Trmu |
T |
A |
15: 85,781,302 (GRCm39) |
|
probably null |
Het |
| Ttn |
A |
T |
2: 76,721,430 (GRCm39) |
|
probably benign |
Het |
| Tyw3 |
T |
C |
3: 154,293,160 (GRCm39) |
T172A |
probably benign |
Het |
| Vldlr |
T |
C |
19: 27,217,121 (GRCm39) |
I348T |
possibly damaging |
Het |
| Zfp114 |
A |
G |
7: 23,877,194 (GRCm39) |
D12G |
probably damaging |
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 |
|
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 |
|
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'- AGCTTCTTTCTCAGTTGTGAGCCTG -3'
(R):5'- GCTGTTGGTGATGAACCTGACCAC -3'
Sequencing Primer
(F):5'- CAGTTGTGAGCCTGCATAAAAAATG -3'
(R):5'- GAGATACGGGCTACATTTTTCC -3'
|
| Posted On |
2014-03-14 |
Incidental Mutation