Incidental Mutation 'IGL02097:Cyp2c29'
ID |
279606 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Cyp2c29
|
Ensembl Gene |
ENSMUSG00000003053 |
Gene Name |
cytochrome P450, family 2, subfamily c, polypeptide 29 |
Synonyms |
AHOHase, Ahh-1, Ah-2, P450-2C, Cyp2c, AHOH |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.116)
|
Stock # |
IGL02097
|
Quality Score |
|
Status
|
|
Chromosome |
19 |
Chromosomal Location |
39275541-39319157 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 39296064 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glycine
at position 126
(D126G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000135863
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000003137]
[ENSMUST00000176624]
[ENSMUST00000177087]
|
AlphaFold |
Q64458 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000003137
AA Change: D165G
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000003137 Gene: ENSMUSG00000003053 AA Change: D165G
Domain | Start | End | E-Value | Type |
low complexity region
|
7 |
19 |
N/A |
INTRINSIC |
Pfam:p450
|
30 |
487 |
5.4e-165 |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000176624
AA Change: D126G
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000135863 Gene: ENSMUSG00000003053 AA Change: D126G
Domain | Start | End | E-Value | Type |
Pfam:p450
|
12 |
448 |
2.7e-156 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000177087
|
SMART Domains |
Protein: ENSMUSP00000135839 Gene: ENSMUSG00000003053
Domain | Start | End | E-Value | Type |
low complexity region
|
7 |
19 |
N/A |
INTRINSIC |
Pfam:p450
|
30 |
118 |
8.4e-22 |
PFAM |
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 49 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcg3 |
A |
T |
5: 105,109,052 (GRCm39) |
V415D |
possibly damaging |
Het |
Adcy3 |
C |
T |
12: 4,262,118 (GRCm39) |
A1056V |
probably damaging |
Het |
Adcy5 |
G |
A |
16: 35,092,468 (GRCm39) |
A610T |
probably damaging |
Het |
Arhgap21 |
G |
A |
2: 20,884,813 (GRCm39) |
T788I |
probably benign |
Het |
Asic1 |
T |
C |
15: 99,592,567 (GRCm39) |
|
probably benign |
Het |
Cdhr4 |
T |
A |
9: 107,870,199 (GRCm39) |
M68K |
probably benign |
Het |
Cdhr5 |
G |
T |
7: 140,849,894 (GRCm39) |
T637K |
probably damaging |
Het |
Corin |
A |
T |
5: 72,529,489 (GRCm39) |
C289S |
probably damaging |
Het |
Cpne4 |
T |
C |
9: 104,563,701 (GRCm39) |
V26A |
probably damaging |
Het |
Csmd1 |
T |
C |
8: 16,261,773 (GRCm39) |
D908G |
probably null |
Het |
Ddx42 |
G |
A |
11: 106,129,986 (GRCm39) |
S426N |
probably benign |
Het |
Dnah1 |
C |
T |
14: 31,026,958 (GRCm39) |
V689M |
possibly damaging |
Het |
Dtwd1 |
A |
G |
2: 126,006,715 (GRCm39) |
T246A |
probably damaging |
Het |
Fbn1 |
A |
T |
2: 125,205,889 (GRCm39) |
M1036K |
probably damaging |
Het |
Fbxo10 |
T |
C |
4: 45,048,527 (GRCm39) |
N536S |
probably benign |
Het |
Gnal |
G |
A |
18: 67,350,279 (GRCm39) |
|
probably benign |
Het |
Gns |
A |
G |
10: 121,226,598 (GRCm39) |
T416A |
probably benign |
Het |
Heatr5b |
G |
A |
17: 79,124,943 (GRCm39) |
T603I |
probably damaging |
Het |
Hsp90b1 |
T |
A |
10: 86,527,548 (GRCm39) |
|
probably benign |
Het |
Krt23 |
C |
T |
11: 99,383,836 (GRCm39) |
G19R |
probably benign |
Het |
Lama2 |
C |
T |
10: 27,014,956 (GRCm39) |
R1584H |
probably benign |
Het |
Lmbr1l |
C |
T |
15: 98,815,772 (GRCm39) |
V11M |
probably damaging |
Het |
Man1a2 |
T |
C |
3: 100,489,447 (GRCm39) |
K511E |
possibly damaging |
Het |
Mrgpra3 |
C |
A |
7: 47,239,204 (GRCm39) |
V241F |
possibly damaging |
Het |
Myh3 |
A |
G |
11: 66,973,750 (GRCm39) |
D141G |
probably benign |
Het |
Mylk2 |
G |
A |
2: 152,757,056 (GRCm39) |
C277Y |
probably damaging |
Het |
Myo3b |
A |
T |
2: 70,069,173 (GRCm39) |
T471S |
probably damaging |
Het |
Naip1 |
A |
G |
13: 100,562,096 (GRCm39) |
V1023A |
probably benign |
Het |
Olfm5 |
T |
A |
7: 103,803,438 (GRCm39) |
T342S |
probably benign |
Het |
Or10g1 |
A |
G |
14: 52,647,511 (GRCm39) |
F273L |
probably benign |
Het |
Or2f1b |
T |
A |
6: 42,739,394 (GRCm39) |
M136K |
probably damaging |
Het |
Pglyrp4 |
T |
C |
3: 90,642,910 (GRCm39) |
F263L |
probably benign |
Het |
Plekhh2 |
A |
T |
17: 84,906,608 (GRCm39) |
T1148S |
possibly damaging |
Het |
Prrc2b |
T |
C |
2: 32,081,513 (GRCm39) |
|
probably benign |
Het |
Rbm28 |
G |
T |
6: 29,138,617 (GRCm39) |
D398E |
possibly damaging |
Het |
Rnf220 |
A |
G |
4: 117,130,524 (GRCm39) |
F234L |
probably benign |
Het |
Sele |
T |
C |
1: 163,880,662 (GRCm39) |
S415P |
probably benign |
Het |
Shpk |
T |
C |
11: 73,094,821 (GRCm39) |
L79P |
probably damaging |
Het |
Slc35f4 |
C |
T |
14: 49,543,703 (GRCm39) |
A148T |
probably damaging |
Het |
Slc6a20a |
G |
A |
9: 123,489,684 (GRCm39) |
P120S |
possibly damaging |
Het |
Slc8a2 |
A |
G |
7: 15,891,081 (GRCm39) |
E701G |
possibly damaging |
Het |
Slco1a1 |
T |
A |
6: 141,885,765 (GRCm39) |
I87F |
possibly damaging |
Het |
Srebf1 |
T |
G |
11: 60,093,650 (GRCm39) |
D739A |
probably damaging |
Het |
Thg1l |
A |
G |
11: 45,841,055 (GRCm39) |
Y175H |
probably benign |
Het |
Traf3ip2 |
G |
A |
10: 39,530,475 (GRCm39) |
V540M |
probably damaging |
Het |
Wdr48 |
A |
G |
9: 119,753,329 (GRCm39) |
D644G |
probably damaging |
Het |
Zbtb1 |
A |
T |
12: 76,433,371 (GRCm39) |
K452N |
probably damaging |
Het |
Zfhx2 |
C |
T |
14: 55,300,351 (GRCm39) |
G2467R |
probably damaging |
Het |
Zfp334 |
A |
T |
2: 165,223,643 (GRCm39) |
Y133* |
probably null |
Het |
|
Other mutations in Cyp2c29 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00420:Cyp2c29
|
APN |
19 |
39,310,143 (GRCm39) |
splice site |
probably benign |
|
IGL00482:Cyp2c29
|
APN |
19 |
39,313,467 (GRCm39) |
missense |
probably damaging |
0.97 |
IGL00694:Cyp2c29
|
APN |
19 |
39,310,079 (GRCm39) |
missense |
possibly damaging |
0.64 |
IGL00836:Cyp2c29
|
APN |
19 |
39,313,434 (GRCm39) |
missense |
probably damaging |
0.98 |
IGL00858:Cyp2c29
|
APN |
19 |
39,296,100 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01350:Cyp2c29
|
APN |
19 |
39,318,771 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01455:Cyp2c29
|
APN |
19 |
39,317,561 (GRCm39) |
missense |
possibly damaging |
0.89 |
IGL01718:Cyp2c29
|
APN |
19 |
39,318,704 (GRCm39) |
missense |
possibly damaging |
0.48 |
IGL01977:Cyp2c29
|
APN |
19 |
39,279,341 (GRCm39) |
splice site |
probably benign |
|
IGL01991:Cyp2c29
|
APN |
19 |
39,318,759 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02267:Cyp2c29
|
APN |
19 |
39,318,866 (GRCm39) |
missense |
probably benign |
0.19 |
IGL02451:Cyp2c29
|
APN |
19 |
39,279,291 (GRCm39) |
missense |
possibly damaging |
0.66 |
IGL02452:Cyp2c29
|
APN |
19 |
39,279,291 (GRCm39) |
missense |
possibly damaging |
0.66 |
IGL02548:Cyp2c29
|
APN |
19 |
39,279,291 (GRCm39) |
missense |
possibly damaging |
0.66 |
IGL02549:Cyp2c29
|
APN |
19 |
39,298,229 (GRCm39) |
missense |
possibly damaging |
0.48 |
IGL02938:Cyp2c29
|
APN |
19 |
39,275,567 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL03252:Cyp2c29
|
APN |
19 |
39,275,619 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03367:Cyp2c29
|
APN |
19 |
39,317,659 (GRCm39) |
missense |
probably damaging |
0.97 |
H8562:Cyp2c29
|
UTSW |
19 |
39,298,106 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03052:Cyp2c29
|
UTSW |
19 |
39,275,662 (GRCm39) |
missense |
possibly damaging |
0.90 |
R0415:Cyp2c29
|
UTSW |
19 |
39,317,539 (GRCm39) |
splice site |
probably benign |
|
R0504:Cyp2c29
|
UTSW |
19 |
39,298,224 (GRCm39) |
missense |
probably benign |
0.29 |
R0690:Cyp2c29
|
UTSW |
19 |
39,298,170 (GRCm39) |
missense |
probably benign |
0.00 |
R1531:Cyp2c29
|
UTSW |
19 |
39,313,412 (GRCm39) |
missense |
probably damaging |
1.00 |
R1730:Cyp2c29
|
UTSW |
19 |
39,313,389 (GRCm39) |
missense |
possibly damaging |
0.79 |
R1981:Cyp2c29
|
UTSW |
19 |
39,296,216 (GRCm39) |
splice site |
probably null |
|
R2113:Cyp2c29
|
UTSW |
19 |
39,318,708 (GRCm39) |
missense |
probably damaging |
1.00 |
R2220:Cyp2c29
|
UTSW |
19 |
39,275,676 (GRCm39) |
missense |
probably benign |
0.09 |
R3873:Cyp2c29
|
UTSW |
19 |
39,317,588 (GRCm39) |
missense |
probably damaging |
0.99 |
R4424:Cyp2c29
|
UTSW |
19 |
39,275,620 (GRCm39) |
missense |
probably damaging |
0.98 |
R4451:Cyp2c29
|
UTSW |
19 |
39,279,270 (GRCm39) |
missense |
probably damaging |
0.99 |
R4803:Cyp2c29
|
UTSW |
19 |
39,313,439 (GRCm39) |
missense |
probably benign |
0.01 |
R5288:Cyp2c29
|
UTSW |
19 |
39,318,816 (GRCm39) |
missense |
probably damaging |
0.96 |
R5474:Cyp2c29
|
UTSW |
19 |
39,313,436 (GRCm39) |
missense |
probably damaging |
1.00 |
R5475:Cyp2c29
|
UTSW |
19 |
39,318,731 (GRCm39) |
missense |
possibly damaging |
0.91 |
R5893:Cyp2c29
|
UTSW |
19 |
39,318,833 (GRCm39) |
missense |
possibly damaging |
0.93 |
R5894:Cyp2c29
|
UTSW |
19 |
39,318,833 (GRCm39) |
missense |
possibly damaging |
0.93 |
R6000:Cyp2c29
|
UTSW |
19 |
39,296,050 (GRCm39) |
critical splice acceptor site |
probably null |
|
R6144:Cyp2c29
|
UTSW |
19 |
39,310,053 (GRCm39) |
missense |
possibly damaging |
0.96 |
R6296:Cyp2c29
|
UTSW |
19 |
39,318,705 (GRCm39) |
missense |
possibly damaging |
0.64 |
R6365:Cyp2c29
|
UTSW |
19 |
39,296,198 (GRCm39) |
missense |
probably damaging |
1.00 |
R6449:Cyp2c29
|
UTSW |
19 |
39,279,311 (GRCm39) |
missense |
probably benign |
0.05 |
R6464:Cyp2c29
|
UTSW |
19 |
39,317,669 (GRCm39) |
missense |
probably damaging |
0.96 |
R6919:Cyp2c29
|
UTSW |
19 |
39,279,585 (GRCm39) |
missense |
probably benign |
0.26 |
R6978:Cyp2c29
|
UTSW |
19 |
39,310,107 (GRCm39) |
missense |
probably damaging |
1.00 |
R7038:Cyp2c29
|
UTSW |
19 |
39,275,571 (GRCm39) |
missense |
probably benign |
0.01 |
R7040:Cyp2c29
|
UTSW |
19 |
39,318,781 (GRCm39) |
missense |
possibly damaging |
0.95 |
R7391:Cyp2c29
|
UTSW |
19 |
39,296,211 (GRCm39) |
missense |
probably null |
0.98 |
R8712:Cyp2c29
|
UTSW |
19 |
39,310,138 (GRCm39) |
critical splice donor site |
probably benign |
|
R8863:Cyp2c29
|
UTSW |
19 |
39,261,810 (GRCm39) |
missense |
probably benign |
0.00 |
R9468:Cyp2c29
|
UTSW |
19 |
39,296,166 (GRCm39) |
missense |
probably benign |
0.07 |
X0024:Cyp2c29
|
UTSW |
19 |
39,310,043 (GRCm39) |
missense |
probably benign |
0.01 |
Z1176:Cyp2c29
|
UTSW |
19 |
39,313,441 (GRCm39) |
missense |
probably benign |
0.08 |
|
Posted On |
2015-04-16 |