Incidental Mutation 'IGL02716:Cyp2c40'
| ID |
304763 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Cyp2c40
|
| Ensembl Gene |
ENSMUSG00000025004 |
| Gene Name |
cytochrome P450, family 2, subfamily c, polypeptide 40 |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.088)
|
| Stock # |
IGL02716
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
19 |
| Chromosomal Location |
39755517-39801258 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 39795980 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Tyrosine
at position 133
(D133Y)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000123884
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000160476]
[ENSMUST00000162507]
[ENSMUST00000162630]
|
| AlphaFold |
P56657 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000160476
AA Change: D133Y
PolyPhen 2
Score 0.209 (Sensitivity: 0.92; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000125217
Gene: ENSMUSG00000025004
AA Change: D133Y
| 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 |
noncoding transcript
Transcript: ENSMUST00000162434
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000162507
AA Change: D88Y
PolyPhen 2
Score 0.483 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000124618
Gene: ENSMUSG00000025004
AA Change: D88Y
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
25 |
N/A |
INTRINSIC |
|
Pfam:p450
|
30 |
120 |
3.1e-13 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000162630
AA Change: D133Y
PolyPhen 2
Score 0.490 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000123884
Gene: ENSMUSG00000025004
AA Change: D133Y
| 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 |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000163090
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 58 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acsl6 |
T |
C |
11: 54,218,102 (GRCm39) |
S212P |
probably benign |
Het |
| Ago2 |
C |
T |
15: 72,983,576 (GRCm39) |
R711Q |
possibly damaging |
Het |
| Akp3 |
A |
C |
1: 87,053,201 (GRCm39) |
D91A |
probably damaging |
Het |
| Arhgap12 |
T |
A |
18: 6,111,857 (GRCm39) |
Q169L |
possibly damaging |
Het |
| Aspm |
A |
G |
1: 139,407,425 (GRCm39) |
Y2104C |
probably damaging |
Het |
| Baz2b |
G |
A |
2: 59,792,868 (GRCm39) |
S420L |
possibly damaging |
Het |
| Cenpo |
T |
C |
12: 4,265,390 (GRCm39) |
N210S |
possibly damaging |
Het |
| Chadl |
T |
C |
15: 81,580,116 (GRCm39) |
N40D |
probably damaging |
Het |
| Crebbp |
T |
C |
16: 3,932,742 (GRCm39) |
E586G |
probably benign |
Het |
| Cts7 |
T |
A |
13: 61,504,422 (GRCm39) |
Q47L |
probably benign |
Het |
| Dnah3 |
A |
T |
7: 119,536,246 (GRCm39) |
M3679K |
probably damaging |
Het |
| Dym |
T |
C |
18: 75,419,754 (GRCm39) |
Y642H |
probably damaging |
Het |
| Efr3b |
T |
C |
12: 4,034,627 (GRCm39) |
D65G |
probably damaging |
Het |
| Elmo1 |
T |
A |
13: 20,633,672 (GRCm39) |
F445I |
probably damaging |
Het |
| Epdr1 |
C |
T |
13: 19,778,740 (GRCm39) |
V119M |
probably benign |
Het |
| Epha4 |
G |
T |
1: 77,357,602 (GRCm39) |
R799S |
probably damaging |
Het |
| Esyt3 |
A |
T |
9: 99,199,277 (GRCm39) |
V778E |
probably damaging |
Het |
| F10 |
A |
T |
8: 13,098,177 (GRCm39) |
K127* |
probably null |
Het |
| Fcgbp |
G |
A |
7: 27,800,859 (GRCm39) |
E1302K |
probably damaging |
Het |
| Fer1l4 |
A |
G |
2: 155,871,635 (GRCm39) |
F1382L |
probably damaging |
Het |
| Fhad1 |
T |
C |
4: 141,645,642 (GRCm39) |
I318V |
possibly damaging |
Het |
| Fscn2 |
A |
T |
11: 120,257,550 (GRCm39) |
T304S |
probably benign |
Het |
| Gab1 |
A |
T |
8: 81,496,323 (GRCm39) |
L659Q |
probably damaging |
Het |
| Gm4845 |
A |
C |
1: 141,184,576 (GRCm39) |
|
noncoding transcript |
Het |
| Gm572 |
A |
G |
4: 148,739,327 (GRCm39) |
M52V |
probably benign |
Het |
| Hmgcr |
T |
C |
13: 96,796,520 (GRCm39) |
|
probably null |
Het |
| Kcnk5 |
T |
C |
14: 20,231,496 (GRCm39) |
T9A |
probably damaging |
Het |
| Krt87 |
A |
C |
15: 101,332,485 (GRCm39) |
F243V |
possibly damaging |
Het |
| Lyset |
A |
G |
12: 102,711,088 (GRCm39) |
T104A |
probably benign |
Het |
| Mast1 |
G |
T |
8: 85,662,352 (GRCm39) |
P52Q |
probably damaging |
Het |
| Mcf2l |
A |
T |
8: 13,047,277 (GRCm39) |
Q211L |
probably benign |
Het |
| Mtrex |
T |
G |
13: 113,019,680 (GRCm39) |
D810A |
probably benign |
Het |
| Mtus2 |
C |
A |
5: 148,173,120 (GRCm39) |
P968T |
probably benign |
Het |
| Mylk2 |
T |
C |
2: 152,764,073 (GRCm39) |
*614R |
probably null |
Het |
| Myo15b |
A |
T |
11: 115,774,535 (GRCm39) |
E2049V |
probably benign |
Het |
| Myo6 |
A |
T |
9: 80,176,976 (GRCm39) |
H581L |
probably damaging |
Het |
| Numb |
A |
T |
12: 83,847,982 (GRCm39) |
S241T |
possibly damaging |
Het |
| Or1j10 |
A |
G |
2: 36,267,355 (GRCm39) |
D189G |
possibly damaging |
Het |
| Or4k77 |
A |
T |
2: 111,199,126 (GRCm39) |
I50F |
probably benign |
Het |
| Or4x11 |
G |
T |
2: 89,868,138 (GRCm39) |
V292L |
probably benign |
Het |
| Phldb2 |
A |
G |
16: 45,621,953 (GRCm39) |
S676P |
probably damaging |
Het |
| Rttn |
G |
A |
18: 89,066,541 (GRCm39) |
E1196K |
possibly damaging |
Het |
| Slc13a3 |
G |
A |
2: 165,248,635 (GRCm39) |
P548S |
unknown |
Het |
| Slc2a7 |
A |
G |
4: 150,244,467 (GRCm39) |
|
probably benign |
Het |
| Slc37a1 |
T |
C |
17: 31,547,135 (GRCm39) |
S261P |
possibly damaging |
Het |
| Spryd3 |
T |
A |
15: 102,041,896 (GRCm39) |
Y42F |
possibly damaging |
Het |
| Srrm3 |
A |
G |
5: 135,883,287 (GRCm39) |
|
probably null |
Het |
| Stambp |
G |
A |
6: 83,533,372 (GRCm39) |
T297I |
probably damaging |
Het |
| Sypl1 |
T |
A |
12: 33,017,668 (GRCm39) |
Y129N |
probably damaging |
Het |
| Syt14 |
G |
A |
1: 192,662,843 (GRCm39) |
P368S |
possibly damaging |
Het |
| Tas2r122 |
T |
C |
6: 132,688,227 (GRCm39) |
D222G |
probably damaging |
Het |
| Tead2 |
C |
A |
7: 44,881,720 (GRCm39) |
Y79* |
probably null |
Het |
| Uso1 |
T |
C |
5: 92,321,794 (GRCm39) |
V229A |
probably damaging |
Het |
| Vmn1r238 |
A |
G |
18: 3,123,124 (GRCm39) |
S97P |
probably damaging |
Het |
| Vmn2r82 |
T |
A |
10: 79,213,678 (GRCm39) |
V88D |
probably benign |
Het |
| Vps29 |
A |
G |
5: 122,500,129 (GRCm39) |
T85A |
probably benign |
Het |
| Wdr90 |
T |
A |
17: 26,076,194 (GRCm39) |
S500C |
probably damaging |
Het |
| Zfp958 |
G |
A |
8: 4,675,967 (GRCm39) |
|
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 |
|
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 |
|
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 |
|
|
| Posted On |
2015-04-16 |
Incidental Mutation