Incidental Mutation 'R8848:Cyp2c40'
| ID |
674859 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cyp2c40
|
| Ensembl Gene |
ENSMUSG00000025004 |
| Gene Name |
cytochrome P450, family 2, subfamily c, polypeptide 40 |
| Synonyms |
|
| MMRRC Submission |
068671-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.088)
|
| Stock # |
R8848 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
19 |
| Chromosomal Location |
39755517-39801258 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 39801244 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Cysteine
at position 4
(R4C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000125217
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000160476]
[ENSMUST00000162507]
[ENSMUST00000162630]
|
| AlphaFold |
P56657 |
| Predicted Effect |
unknown
Transcript: ENSMUST00000160476
AA Change: R4C
|
| SMART Domains |
Protein: ENSMUSP00000125217
Gene: ENSMUSG00000025004
AA Change: R4C
| 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: 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 |
unknown
Transcript: ENSMUST00000162630
AA Change: R4C
|
| SMART Domains |
Protein: ENSMUSP00000123884
Gene: ENSMUSG00000025004
AA Change: R4C
| 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 |
0.0852 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
100% (61/61) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 64 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1110059G10Rik |
T |
C |
9: 122,778,106 (GRCm39) |
D46G |
probably benign |
Het |
| Abcc8 |
A |
T |
7: 45,766,769 (GRCm39) |
W1004R |
possibly damaging |
Het |
| Acbd3 |
T |
A |
1: 180,562,084 (GRCm39) |
|
probably null |
Het |
| Adh1 |
G |
T |
3: 137,986,262 (GRCm39) |
C83F |
probably benign |
Het |
| Arhgef18 |
T |
C |
8: 3,477,481 (GRCm39) |
V20A |
probably benign |
Het |
| Bmal1 |
T |
C |
7: 112,905,327 (GRCm39) |
I506T |
possibly damaging |
Het |
| Brf2 |
T |
C |
8: 27,616,140 (GRCm39) |
I82V |
probably benign |
Het |
| C7 |
A |
G |
15: 5,088,911 (GRCm39) |
V10A |
probably damaging |
Het |
| Cacna1d |
C |
T |
14: 29,845,283 (GRCm39) |
V651M |
possibly damaging |
Het |
| Cacna2d2 |
T |
C |
9: 107,391,855 (GRCm39) |
I458T |
possibly damaging |
Het |
| Cadps2 |
C |
A |
6: 23,344,256 (GRCm39) |
W897L |
probably damaging |
Het |
| Cdhr1 |
T |
A |
14: 36,802,531 (GRCm39) |
N644I |
probably benign |
Het |
| Cox7c |
A |
T |
13: 86,193,900 (GRCm39) |
I55K |
possibly damaging |
Het |
| Cox8c |
T |
A |
12: 102,865,577 (GRCm39) |
|
probably benign |
Het |
| Ehd3 |
A |
T |
17: 74,136,911 (GRCm39) |
|
probably null |
Het |
| Eif2b4 |
A |
T |
5: 31,348,210 (GRCm39) |
C227S |
probably damaging |
Het |
| Erlec1 |
T |
C |
11: 30,898,411 (GRCm39) |
Y213C |
probably damaging |
Het |
| F11 |
G |
T |
8: 45,695,281 (GRCm39) |
Y562* |
probably null |
Het |
| Fam186a |
A |
G |
15: 99,838,034 (GRCm39) |
S2737P |
possibly damaging |
Het |
| Fat3 |
T |
C |
9: 15,878,398 (GRCm39) |
E3361G |
probably damaging |
Het |
| Fbxl7 |
T |
A |
15: 26,552,902 (GRCm39) |
M122L |
probably benign |
Het |
| Fras1 |
T |
A |
5: 96,929,207 (GRCm39) |
N3870K |
probably damaging |
Het |
| Gm12185 |
T |
A |
11: 48,806,280 (GRCm39) |
T304S |
possibly damaging |
Het |
| Grin3b |
A |
T |
10: 79,809,667 (GRCm39) |
D391V |
probably benign |
Het |
| Hao2 |
T |
A |
3: 98,784,528 (GRCm39) |
D279V |
probably damaging |
Het |
| Il4i1 |
C |
A |
7: 44,489,175 (GRCm39) |
D313E |
probably damaging |
Het |
| Kcnk7 |
T |
A |
19: 5,756,743 (GRCm39) |
L244Q |
probably damaging |
Het |
| Lingo4 |
A |
T |
3: 94,310,840 (GRCm39) |
M593L |
probably benign |
Het |
| Lix1 |
G |
A |
17: 17,663,955 (GRCm39) |
A98T |
probably damaging |
Het |
| Lpo |
T |
A |
11: 87,708,603 (GRCm39) |
I132L |
probably benign |
Het |
| Mymx |
A |
T |
17: 45,912,935 (GRCm39) |
|
probably null |
Het |
| Nms |
T |
C |
1: 38,978,391 (GRCm39) |
S9P |
probably benign |
Het |
| Nom1 |
A |
G |
5: 29,645,137 (GRCm39) |
D535G |
probably damaging |
Het |
| Or2t43 |
T |
A |
11: 58,457,902 (GRCm39) |
I90F |
probably damaging |
Het |
| Or5p81 |
T |
A |
7: 108,266,929 (GRCm39) |
I102N |
probably benign |
Het |
| Or8k25 |
T |
C |
2: 86,243,821 (GRCm39) |
T192A |
probably benign |
Het |
| Pgbd1 |
A |
G |
13: 21,607,052 (GRCm39) |
C381R |
probably damaging |
Het |
| Pkp1 |
T |
C |
1: 135,807,652 (GRCm39) |
S539G |
probably damaging |
Het |
| Plcd3 |
C |
A |
11: 102,971,446 (GRCm39) |
R66L |
probably benign |
Het |
| Polr3a |
A |
T |
14: 24,500,834 (GRCm39) |
L1318Q |
probably damaging |
Het |
| Ppara |
T |
A |
15: 85,673,188 (GRCm39) |
F126L |
possibly damaging |
Het |
| Rab11a |
T |
C |
9: 64,624,264 (GRCm39) |
Y173C |
probably damaging |
Het |
| Rev3l |
T |
A |
10: 39,722,705 (GRCm39) |
M2566K |
probably damaging |
Het |
| Rwdd1 |
A |
G |
10: 33,884,987 (GRCm39) |
|
probably null |
Het |
| Scn7a |
G |
A |
2: 66,530,393 (GRCm39) |
R651* |
probably null |
Het |
| Slc15a4 |
T |
G |
5: 127,679,021 (GRCm39) |
I440L |
probably benign |
Het |
| Slc28a2 |
A |
G |
2: 122,290,902 (GRCm39) |
T623A |
probably benign |
Het |
| Snd1 |
T |
A |
6: 28,874,962 (GRCm39) |
S628T |
possibly damaging |
Het |
| Speg |
T |
C |
1: 75,404,082 (GRCm39) |
|
probably null |
Het |
| Spta1 |
G |
A |
1: 174,025,310 (GRCm39) |
R725K |
probably benign |
Het |
| Stag3 |
A |
G |
5: 138,288,528 (GRCm39) |
E185G |
probably null |
Het |
| Svop |
G |
T |
5: 114,183,687 (GRCm39) |
T195K |
|
Het |
| Tbc1d5 |
A |
T |
17: 51,226,082 (GRCm39) |
F254I |
probably damaging |
Het |
| Ulk3 |
T |
C |
9: 57,496,890 (GRCm39) |
L8P |
probably benign |
Het |
| Unc13c |
T |
C |
9: 73,433,263 (GRCm39) |
I1973V |
probably benign |
Het |
| Upb1 |
T |
A |
10: 75,264,178 (GRCm39) |
|
probably null |
Het |
| Usp53 |
C |
T |
3: 122,742,825 (GRCm39) |
G704S |
probably benign |
Het |
| Usp53 |
T |
C |
3: 122,743,235 (GRCm39) |
D567G |
probably benign |
Het |
| Vmn1r72 |
T |
A |
7: 11,404,269 (GRCm39) |
I60F |
probably damaging |
Het |
| Vmn2r34 |
C |
T |
7: 7,675,307 (GRCm39) |
V694I |
probably benign |
Het |
| Vmn2r60 |
T |
C |
7: 41,786,169 (GRCm39) |
F324S |
probably damaging |
Het |
| Vps37d |
A |
G |
5: 135,102,519 (GRCm39) |
S238P |
probably damaging |
Het |
| Zfp407 |
T |
A |
18: 84,578,819 (GRCm39) |
I765F |
probably damaging |
Het |
| Zfp455 |
A |
G |
13: 67,356,089 (GRCm39) |
I387M |
possibly 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 |
|
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 |
|
R8302:Cyp2c40
|
UTSW |
19 |
39,796,066 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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'- ATGTCCTTCATATCTATCAGGTGG -3'
(R):5'- GGTGATATCCACGTGGTGAC -3'
Sequencing Primer
(F):5'- CAATAATTGGGAGAGGAGTAGGGCC -3'
(R):5'- ATGTGGGTTATCAGAGGGTGGAC -3'
|
| Posted On |
2021-07-15 |
Incidental Mutation