Incidental Mutation 'R9168:Cyp2c40'
| ID |
696221 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cyp2c40
|
| Ensembl Gene |
ENSMUSG00000025004 |
| Gene Name |
cytochrome P450, family 2, subfamily c, polypeptide 40 |
| Synonyms |
|
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.088)
|
| Stock # |
R9168 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
19 |
| Chromosomal Location |
39755517-39801258 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 39755819 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Isoleucine
at position 498
(M498I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000125217
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000160476]
[ENSMUST00000162630]
|
| AlphaFold |
P56657 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000160476
AA Change: M498I
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000125217
Gene: ENSMUSG00000025004
AA Change: M498I
| 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: 100.0%
- 3x: 100.0%
- 10x: 99.9%
- 20x: 99.6%
|
| Validation Efficiency |
97% (67/69) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 72 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Alppl2 |
T |
C |
1: 87,015,050 (GRCm39) |
Y437C |
probably damaging |
Het |
| Arhgef11 |
T |
G |
3: 87,633,790 (GRCm39) |
L808R |
probably damaging |
Het |
| Armc7 |
G |
A |
11: 115,366,724 (GRCm39) |
|
probably benign |
Het |
| Ascl1 |
T |
C |
10: 87,328,361 (GRCm39) |
N197S |
probably benign |
Het |
| Cdc42bpb |
T |
G |
12: 111,286,517 (GRCm39) |
E630D |
possibly damaging |
Het |
| Cep128 |
T |
C |
12: 91,233,794 (GRCm39) |
I425V |
probably damaging |
Het |
| Ces4a |
T |
A |
8: 105,876,050 (GRCm39) |
D530E |
probably benign |
Het |
| Ch25h |
T |
C |
19: 34,451,905 (GRCm39) |
I208V |
probably benign |
Het |
| Cnpy3 |
A |
C |
17: 47,063,019 (GRCm39) |
C11G |
unknown |
Het |
| Col12a1 |
A |
C |
9: 79,548,783 (GRCm39) |
Y2187* |
probably null |
Het |
| D630039A03Rik |
T |
A |
4: 57,910,113 (GRCm39) |
Y233F |
probably damaging |
Het |
| Dffa |
A |
T |
4: 149,192,226 (GRCm39) |
D100V |
probably damaging |
Het |
| Dock7 |
A |
T |
4: 98,953,643 (GRCm39) |
M363K |
|
Het |
| Dscam |
A |
G |
16: 96,420,768 (GRCm39) |
V1706A |
possibly damaging |
Het |
| En1 |
A |
G |
1: 120,530,892 (GRCm39) |
D44G |
unknown |
Het |
| Enpp4 |
T |
A |
17: 44,413,141 (GRCm39) |
N131I |
probably damaging |
Het |
| Ezh1 |
T |
C |
11: 101,086,433 (GRCm39) |
D587G |
probably damaging |
Het |
| Gm21149 |
G |
T |
5: 15,677,132 (GRCm39) |
H241N |
possibly damaging |
Het |
| Gna15 |
T |
C |
10: 81,350,192 (GRCm39) |
Y70C |
probably damaging |
Het |
| Gucy1a1 |
T |
G |
3: 82,009,353 (GRCm39) |
M552L |
probably damaging |
Het |
| Herc2 |
G |
A |
7: 55,802,208 (GRCm39) |
V2017M |
probably damaging |
Het |
| Hsf4 |
C |
T |
8: 105,999,373 (GRCm39) |
A297V |
probably benign |
Het |
| Ighd |
T |
A |
12: 113,379,203 (GRCm39) |
T122S |
|
Het |
| Iqca1 |
C |
T |
1: 90,065,937 (GRCm39) |
R218Q |
probably damaging |
Het |
| Isl2 |
C |
A |
9: 55,452,227 (GRCm39) |
S266R |
probably benign |
Het |
| Itpkb |
A |
C |
1: 180,160,028 (GRCm39) |
R51S |
probably benign |
Het |
| Jup |
A |
T |
11: 100,274,219 (GRCm39) |
|
probably null |
Het |
| Kbtbd6 |
T |
C |
14: 79,690,553 (GRCm39) |
V416A |
possibly damaging |
Het |
| Klhl22 |
T |
A |
16: 17,602,068 (GRCm39) |
Y372N |
probably damaging |
Het |
| Klrc3 |
T |
C |
6: 129,616,142 (GRCm39) |
E191G |
probably damaging |
Het |
| Lhx5 |
A |
G |
5: 120,570,410 (GRCm39) |
D22G |
probably benign |
Het |
| Marchf9 |
GGGCGGCGGCGGCGGCG |
GGGCGGCGGCGGCG |
10: 126,895,360 (GRCm39) |
|
probably benign |
Het |
| Mbtps1 |
A |
G |
8: 120,248,602 (GRCm39) |
I707T |
probably benign |
Het |
| Nbeal1 |
T |
A |
1: 60,331,047 (GRCm39) |
Y2219N |
probably damaging |
Het |
| Neb |
A |
G |
2: 52,085,696 (GRCm39) |
I5513T |
probably damaging |
Het |
| Nkx1-1 |
C |
T |
5: 33,591,131 (GRCm39) |
V64M |
unknown |
Het |
| Nme4 |
G |
T |
17: 26,314,389 (GRCm39) |
A13E |
probably benign |
Het |
| Or2g25 |
T |
C |
17: 37,971,047 (GRCm39) |
Y59C |
probably damaging |
Het |
| Or52e18 |
A |
G |
7: 104,609,001 (GRCm39) |
*313R |
probably null |
Het |
| Or7e173 |
T |
C |
9: 19,938,818 (GRCm39) |
M139V |
probably benign |
Het |
| Osbpl3 |
A |
T |
6: 50,329,762 (GRCm39) |
|
probably null |
Het |
| Phc3 |
T |
A |
3: 30,961,544 (GRCm39) |
M963L |
probably benign |
Het |
| Phf20 |
C |
T |
2: 156,109,234 (GRCm39) |
P194S |
probably benign |
Het |
| Pou1f1 |
C |
T |
16: 65,317,427 (GRCm39) |
|
probably benign |
Het |
| Pramel46 |
T |
A |
5: 95,418,133 (GRCm39) |
M288L |
probably benign |
Het |
| Prdm13 |
C |
G |
4: 21,679,659 (GRCm39) |
R277P |
unknown |
Het |
| Prelid1 |
A |
G |
13: 55,470,010 (GRCm39) |
K3R |
possibly damaging |
Het |
| Psd |
C |
A |
19: 46,309,233 (GRCm39) |
D575Y |
probably damaging |
Het |
| Ptger3 |
C |
A |
3: 157,273,424 (GRCm39) |
T257K |
probably damaging |
Het |
| Pth1r |
T |
C |
9: 110,556,204 (GRCm39) |
H223R |
probably benign |
Het |
| Ptk2b |
C |
T |
14: 66,424,899 (GRCm39) |
E182K |
probably damaging |
Het |
| Ptprj |
T |
C |
2: 90,294,916 (GRCm39) |
T431A |
possibly damaging |
Het |
| Rbbp5 |
T |
A |
1: 132,417,464 (GRCm39) |
D119E |
probably benign |
Het |
| Rest |
GGGGGCCTGCCCCTCCCACGGGGCCTGCCCCTCCCACGGGGCCTGCCCCTCCCACGGAGCCTGCCCCTCCCACGGGGC |
GGGGGCCTGCCCCTCCCACGGGGCCTGCCCCTCCCACGGAGCCTGCCCCTCCCACGGGGC |
5: 77,429,651 (GRCm39) |
|
probably benign |
Het |
| Rinl |
T |
G |
7: 28,490,084 (GRCm39) |
L41R |
possibly damaging |
Het |
| Rrp12 |
A |
G |
19: 41,865,603 (GRCm39) |
V730A |
probably benign |
Het |
| Saraf |
G |
T |
8: 34,632,343 (GRCm39) |
V141L |
possibly damaging |
Het |
| Slc6a13 |
T |
C |
6: 121,302,042 (GRCm39) |
L208P |
probably damaging |
Het |
| Slc9a9 |
C |
A |
9: 94,595,000 (GRCm39) |
T170K |
probably damaging |
Het |
| Spata31f1e |
T |
C |
4: 42,793,380 (GRCm39) |
T251A |
probably benign |
Het |
| Stk33 |
T |
C |
7: 108,928,747 (GRCm39) |
N255S |
probably damaging |
Het |
| Tenm2 |
C |
T |
11: 35,930,722 (GRCm39) |
V1769M |
probably damaging |
Het |
| Themis |
C |
A |
10: 28,658,233 (GRCm39) |
T420N |
probably benign |
Het |
| Tmem116 |
T |
C |
5: 121,605,975 (GRCm39) |
V109A |
|
Het |
| Tnfaip2 |
T |
A |
12: 111,411,382 (GRCm39) |
L2Q |
probably damaging |
Het |
| Trub1 |
T |
C |
19: 57,452,859 (GRCm39) |
|
probably null |
Het |
| Ttn |
C |
T |
2: 76,679,260 (GRCm39) |
V10821I |
unknown |
Het |
| Ube2j1 |
C |
A |
4: 33,045,111 (GRCm39) |
A197D |
probably benign |
Het |
| Vmn2r101 |
T |
A |
17: 19,809,138 (GRCm39) |
I89N |
probably damaging |
Het |
| Wfikkn1 |
T |
C |
17: 26,097,145 (GRCm39) |
Y393C |
probably damaging |
Het |
| Zfp729b |
C |
A |
13: 67,741,942 (GRCm39) |
E108* |
probably null |
Het |
| Zfp976 |
A |
T |
7: 42,263,011 (GRCm39) |
C276* |
probably null |
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 |
|
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 |
|
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'- ATAGAGAACTGTTAGCCTTGGG -3'
(R):5'- TGCTATTTACAAACACAGTGCC -3'
Sequencing Primer
(F):5'- CCTTGGGCAATTAGAGAACAGAAGC -3'
(R):5'- TTTACAAACACAGTGCCTCTTAAAC -3'
|
| Posted On |
2022-02-07 |
Incidental Mutation