Incidental Mutation 'R9132:Cyp2c40'
ID |
693748 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Cyp2c40
|
Ensembl Gene |
ENSMUSG00000025004 |
Gene Name |
cytochrome P450, family 2, subfamily c, polypeptide 40 |
Synonyms |
|
MMRRC Submission |
068929-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.088)
|
Stock # |
R9132 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
19 |
Chromosomal Location |
39755517-39801258 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 39762317 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 443
(D443E)
|
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: D443E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000125217 Gene: ENSMUSG00000025004 AA Change: D443E
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: 99.9%
- 10x: 99.6%
- 20x: 98.6%
|
Validation Efficiency |
97% (65/67) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 65 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
AC133488.1 |
A |
T |
16: 18,440,075 (GRCm39) |
V363E |
probably benign |
Het |
Adamts16 |
A |
G |
13: 70,901,408 (GRCm39) |
S890P |
probably benign |
Het |
Amd1 |
A |
G |
10: 40,169,158 (GRCm39) |
|
probably null |
Het |
Apcs |
A |
G |
1: 172,722,061 (GRCm39) |
I95T |
probably damaging |
Het |
Arhgap18 |
A |
G |
10: 26,730,886 (GRCm39) |
D188G |
probably benign |
Het |
Arhgap42 |
C |
T |
9: 9,011,419 (GRCm39) |
V456M |
probably damaging |
Het |
Atp2a2 |
T |
C |
5: 122,599,633 (GRCm39) |
Y586C |
probably damaging |
Het |
Cbr1 |
G |
C |
16: 93,406,794 (GRCm39) |
G170A |
probably benign |
Het |
Cdh23 |
T |
A |
10: 60,270,283 (GRCm39) |
|
probably benign |
Het |
Cfap53 |
T |
A |
18: 74,416,272 (GRCm39) |
Y2N |
probably damaging |
Het |
Clcn3 |
A |
G |
8: 61,382,136 (GRCm39) |
I511T |
probably damaging |
Het |
Col28a1 |
T |
A |
6: 8,014,993 (GRCm39) |
D804V |
probably damaging |
Het |
Csmd2 |
A |
G |
4: 128,443,007 (GRCm39) |
T3253A |
|
Het |
Csta3 |
G |
A |
16: 36,038,069 (GRCm39) |
V69I |
probably benign |
Het |
Cyp7b1 |
A |
G |
3: 18,151,476 (GRCm39) |
C246R |
probably benign |
Het |
Dmxl1 |
C |
G |
18: 50,072,639 (GRCm39) |
N2744K |
probably damaging |
Het |
Dnai4 |
A |
G |
4: 102,916,930 (GRCm39) |
M592T |
probably damaging |
Het |
Dpyd |
T |
A |
3: 118,710,897 (GRCm39) |
I435N |
probably damaging |
Het |
Fat2 |
A |
T |
11: 55,189,436 (GRCm39) |
L1194Q |
possibly damaging |
Het |
Firrm |
A |
G |
1: 163,814,514 (GRCm39) |
I143T |
probably damaging |
Het |
Gabrg1 |
A |
T |
5: 70,939,622 (GRCm39) |
I170N |
possibly damaging |
Het |
Gon4l |
C |
T |
3: 88,815,484 (GRCm39) |
P2016S |
probably benign |
Het |
Hax1 |
T |
C |
3: 89,903,127 (GRCm39) |
R251G |
probably damaging |
Het |
Hbq1b |
A |
T |
11: 32,237,228 (GRCm39) |
K41* |
probably null |
Het |
Ido2 |
G |
A |
8: 25,023,933 (GRCm39) |
P302S |
probably damaging |
Het |
Igf2bp2 |
G |
A |
16: 21,900,502 (GRCm39) |
T213I |
probably damaging |
Het |
Itga2 |
A |
T |
13: 115,014,298 (GRCm39) |
L210* |
probably null |
Het |
Kdm1b |
G |
A |
13: 47,225,458 (GRCm39) |
S547N |
probably benign |
Het |
Ltbp2 |
G |
A |
12: 84,837,864 (GRCm39) |
P1192L |
probably benign |
Het |
Lyz2 |
A |
T |
10: 117,116,562 (GRCm39) |
C95* |
probably null |
Het |
Mafa |
A |
T |
15: 75,619,048 (GRCm39) |
S242T |
possibly damaging |
Het |
Mapk1 |
T |
C |
16: 16,856,300 (GRCm39) |
|
probably null |
Het |
Mta1 |
T |
A |
12: 113,100,025 (GRCm39) |
V645E |
probably damaging |
Het |
Muc5ac |
T |
C |
7: 141,363,529 (GRCm39) |
I2280T |
unknown |
Het |
Naa35 |
T |
C |
13: 59,772,341 (GRCm39) |
I438T |
possibly damaging |
Het |
Necab2 |
T |
C |
8: 120,189,303 (GRCm39) |
Y158H |
probably damaging |
Het |
Nphp3 |
T |
A |
9: 103,897,980 (GRCm39) |
L523Q |
probably damaging |
Het |
Ogdh |
A |
T |
11: 6,290,488 (GRCm39) |
I369F |
probably benign |
Het |
Pglyrp4 |
C |
T |
3: 90,635,238 (GRCm39) |
Q28* |
probably null |
Het |
Pla2g4a |
C |
T |
1: 149,747,230 (GRCm39) |
V319I |
probably benign |
Het |
Plk3 |
ACACTCAC |
ACAC |
4: 116,989,090 (GRCm39) |
|
probably benign |
Het |
Prdm6 |
C |
A |
18: 53,598,019 (GRCm39) |
A127D |
unknown |
Het |
Prop1 |
T |
G |
11: 50,843,037 (GRCm39) |
E50A |
|
Het |
Ripk1 |
A |
G |
13: 34,212,184 (GRCm39) |
N498S |
probably benign |
Het |
Rnf213 |
A |
G |
11: 119,374,742 (GRCm39) |
N5069S |
|
Het |
Saa3 |
T |
C |
7: 46,362,121 (GRCm39) |
D41G |
probably damaging |
Het |
Setd2 |
T |
C |
9: 110,374,385 (GRCm39) |
|
probably null |
Het |
Shbg |
G |
A |
11: 69,506,430 (GRCm39) |
L327F |
probably benign |
Het |
Slc12a5 |
G |
A |
2: 164,835,876 (GRCm39) |
|
probably benign |
Het |
Slc1a4 |
C |
T |
11: 20,258,527 (GRCm39) |
G304D |
probably damaging |
Het |
Slf1 |
T |
C |
13: 77,249,073 (GRCm39) |
K372E |
probably benign |
Het |
Smad2 |
T |
A |
18: 76,395,573 (GRCm39) |
I4N |
possibly damaging |
Het |
Smad6 |
A |
C |
9: 63,914,870 (GRCm39) |
S300A |
probably benign |
Het |
Spata31h1 |
T |
C |
10: 82,127,896 (GRCm39) |
T1705A |
possibly damaging |
Het |
Spem2 |
T |
A |
11: 69,707,414 (GRCm39) |
|
probably benign |
Het |
Syde1 |
T |
C |
10: 78,425,340 (GRCm39) |
S224G |
probably benign |
Het |
Tacc1 |
A |
T |
8: 25,672,151 (GRCm39) |
V359E |
possibly damaging |
Het |
Tex15 |
T |
G |
8: 34,067,554 (GRCm39) |
V2328G |
possibly damaging |
Het |
Tmem43 |
A |
C |
6: 91,459,291 (GRCm39) |
D254A |
probably benign |
Het |
Trav6d-3 |
T |
A |
14: 52,964,210 (GRCm39) |
Y58N |
possibly damaging |
Het |
Trrap |
A |
G |
5: 144,726,362 (GRCm39) |
E437G |
probably benign |
Het |
Wars1 |
A |
G |
12: 108,827,199 (GRCm39) |
F474L |
probably benign |
Het |
Zfp169 |
T |
C |
13: 48,644,557 (GRCm39) |
E190G |
unknown |
Het |
Zfp541 |
T |
A |
7: 15,816,966 (GRCm39) |
V918D |
probably benign |
Het |
Zfp747 |
T |
C |
7: 126,974,922 (GRCm39) |
D26G |
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 |
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 |
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'- TCATCATTACCAAGGACAGTGC -3'
(R):5'- TGTGGGTTGAAATGTCCCTACC -3'
Sequencing Primer
(F):5'- TCATTACCAAGGACAGTGCATGGG -3'
(R):5'- GGTTGAAATGTCCCTACCATTCTTTG -3'
|
Posted On |
2022-01-20 |