Incidental Mutation 'R1977:Cyp2c40'
| ID |
221922 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cyp2c40
|
| Ensembl Gene |
ENSMUSG00000025004 |
| Gene Name |
cytochrome P450, family 2, subfamily c, polypeptide 40 |
| Synonyms |
|
| MMRRC Submission |
039990-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.088)
|
| Stock # |
R1977 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
19 |
| Chromosomal Location |
39755517-39801258 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 39766485 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 370
(D370G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000125217
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000160476]
[ENSMUST00000162630]
|
| AlphaFold |
P56657 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000160476
AA Change: D370G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000125217
Gene: ENSMUSG00000025004
AA Change: D370G
| 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 |
|
| Meta Mutation Damage Score |
0.8632 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.7%
- 20x: 93.8%
|
| Validation Efficiency |
99% (66/67) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 63 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acsf3 |
G |
T |
8: 123,508,272 (GRCm39) |
C256F |
probably damaging |
Het |
| Adgra2 |
T |
A |
8: 27,605,789 (GRCm39) |
V647D |
possibly damaging |
Het |
| AI593442 |
A |
T |
9: 52,589,492 (GRCm39) |
S28R |
probably damaging |
Het |
| Akr1c21 |
G |
C |
13: 4,624,211 (GRCm39) |
G22R |
probably damaging |
Het |
| Ampd3 |
T |
C |
7: 110,402,369 (GRCm39) |
W458R |
probably damaging |
Het |
| Arhgap23 |
G |
T |
11: 97,342,273 (GRCm39) |
R185L |
possibly damaging |
Het |
| Arhgap45 |
A |
T |
10: 79,856,652 (GRCm39) |
I67F |
probably damaging |
Het |
| Asah1 |
A |
G |
8: 41,796,554 (GRCm39) |
|
probably null |
Het |
| Atl2 |
A |
G |
17: 80,160,019 (GRCm39) |
Y56H |
probably damaging |
Het |
| Carf |
A |
T |
1: 60,185,295 (GRCm39) |
I447F |
probably damaging |
Het |
| Crmp1 |
A |
G |
5: 37,433,627 (GRCm39) |
N162S |
probably damaging |
Het |
| Cyp2a5 |
A |
G |
7: 26,535,347 (GRCm39) |
E103G |
probably benign |
Het |
| Dhrs2 |
T |
A |
14: 55,472,112 (GRCm39) |
M1K |
probably null |
Het |
| Dnah17 |
T |
C |
11: 118,003,417 (GRCm39) |
E810G |
possibly damaging |
Het |
| E2f5 |
T |
A |
3: 14,652,416 (GRCm39) |
I84N |
probably damaging |
Het |
| Eif2ak4 |
A |
T |
2: 118,292,238 (GRCm39) |
K1185* |
probably null |
Het |
| Eif4ebp1 |
T |
A |
8: 27,765,129 (GRCm39) |
M115K |
probably damaging |
Het |
| Evi5 |
A |
T |
5: 107,947,005 (GRCm39) |
L505* |
probably null |
Het |
| Fbxw25 |
T |
A |
9: 109,481,924 (GRCm39) |
Y254F |
possibly damaging |
Het |
| Gm7964 |
T |
A |
7: 83,406,560 (GRCm39) |
F439Y |
possibly damaging |
Het |
| Gps1 |
A |
G |
11: 120,676,652 (GRCm39) |
T124A |
probably damaging |
Het |
| Hopx |
T |
C |
5: 77,265,463 (GRCm39) |
|
probably benign |
Het |
| Hoxd3 |
A |
G |
2: 74,574,620 (GRCm39) |
S89G |
possibly damaging |
Het |
| Hrc |
A |
T |
7: 44,985,638 (GRCm39) |
D263V |
probably damaging |
Het |
| Hs6st3 |
T |
C |
14: 119,375,888 (GRCm39) |
I21T |
probably benign |
Het |
| Izumo4 |
A |
G |
10: 80,538,955 (GRCm39) |
Y106C |
probably damaging |
Het |
| Lama2 |
A |
T |
10: 26,866,796 (GRCm39) |
|
probably null |
Het |
| Lcorl |
A |
C |
5: 45,932,762 (GRCm39) |
S123R |
probably null |
Het |
| Lgr4 |
A |
T |
2: 109,842,273 (GRCm39) |
I729F |
probably damaging |
Het |
| Lonp1 |
T |
C |
17: 56,922,068 (GRCm39) |
T771A |
possibly damaging |
Het |
| Matn3 |
T |
A |
12: 9,011,110 (GRCm39) |
|
probably benign |
Het |
| Mdc1 |
T |
A |
17: 36,161,822 (GRCm39) |
S912T |
probably benign |
Het |
| Mgam |
G |
A |
6: 40,641,814 (GRCm39) |
V556I |
probably benign |
Het |
| Myom2 |
A |
T |
8: 15,135,263 (GRCm39) |
I489F |
possibly damaging |
Het |
| Nfatc2 |
G |
A |
2: 168,346,379 (GRCm39) |
T905I |
possibly damaging |
Het |
| Nme6 |
G |
A |
9: 109,664,409 (GRCm39) |
R6Q |
probably damaging |
Het |
| Nr1h5 |
A |
G |
3: 102,855,133 (GRCm39) |
S323P |
probably damaging |
Het |
| Nr4a3 |
C |
A |
4: 48,056,539 (GRCm39) |
R364S |
probably damaging |
Het |
| Obox7 |
A |
T |
7: 14,398,323 (GRCm39) |
D79V |
probably damaging |
Het |
| Or1ab2 |
G |
A |
8: 72,863,698 (GRCm39) |
G96D |
probably benign |
Het |
| Or2a51 |
T |
A |
6: 43,178,914 (GRCm39) |
V112D |
possibly damaging |
Het |
| Or2l5 |
G |
A |
16: 19,333,586 (GRCm39) |
P267S |
probably damaging |
Het |
| Pan2 |
T |
C |
10: 128,156,282 (GRCm39) |
V1171A |
probably damaging |
Het |
| Parp8 |
T |
A |
13: 117,047,449 (GRCm39) |
I208F |
probably damaging |
Het |
| Pdgfc |
C |
T |
3: 81,116,552 (GRCm39) |
T302I |
probably damaging |
Het |
| Pnpt1 |
A |
G |
11: 29,091,256 (GRCm39) |
I337V |
probably benign |
Het |
| Polk |
T |
C |
13: 96,625,736 (GRCm39) |
E436G |
probably damaging |
Het |
| Pramel7 |
A |
G |
2: 87,321,465 (GRCm39) |
V190A |
probably benign |
Het |
| Rplp2 |
T |
C |
7: 141,028,694 (GRCm39) |
|
probably benign |
Het |
| Sec23ip |
T |
A |
7: 128,367,997 (GRCm39) |
S670T |
probably damaging |
Het |
| Sgk2 |
A |
G |
2: 162,846,080 (GRCm39) |
N207S |
probably benign |
Het |
| Sh2d2a |
C |
T |
3: 87,759,123 (GRCm39) |
Q242* |
probably null |
Het |
| Sh3pxd2b |
A |
C |
11: 32,372,138 (GRCm39) |
N435T |
probably damaging |
Het |
| Slc36a4 |
T |
A |
9: 15,645,506 (GRCm39) |
V311D |
probably damaging |
Het |
| Stx17 |
G |
A |
4: 48,181,553 (GRCm39) |
V241M |
probably benign |
Het |
| Taok3 |
A |
T |
5: 117,403,989 (GRCm39) |
K721N |
probably damaging |
Het |
| Tbxas1 |
A |
G |
6: 38,925,575 (GRCm39) |
|
probably benign |
Het |
| Tmem87a |
G |
A |
2: 120,204,985 (GRCm39) |
A377V |
probably benign |
Het |
| Topaz1 |
C |
T |
9: 122,576,427 (GRCm39) |
T6M |
unknown |
Het |
| Tspan8 |
A |
G |
10: 115,680,035 (GRCm39) |
I217V |
probably benign |
Het |
| Vmn2r125 |
A |
G |
4: 156,707,162 (GRCm39) |
|
probably null |
Het |
| Vmn2r5 |
C |
T |
3: 64,411,642 (GRCm39) |
E309K |
probably damaging |
Het |
| Wdr59 |
A |
T |
8: 112,185,270 (GRCm39) |
C888S |
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 |
|
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'- GTCATATTGCTGCTACCATGTC -3'
(R):5'- TGTTCAAAATGTTTCTGGGCCAC -3'
Sequencing Primer
(F):5'- GGAATCACACTGAATCAGGGAACATC -3'
(R):5'- ACTTTCTTCATGGCCTAGGTAG -3'
|
| Posted On |
2014-08-25 |
Incidental Mutation