Incidental Mutation 'IGL01977:Cyp2c29'
| ID |
181747 |
| 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 # |
IGL01977
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
19 |
| Chromosomal Location |
39275541-39319157 bp(+) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
T to C
at 39279341 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000135839
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000003137]
[ENSMUST00000176624]
[ENSMUST00000177087]
|
| AlphaFold |
Q64458 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000003137
|
| SMART Domains |
Protein: ENSMUSP00000003137
Gene: ENSMUSG00000003053
| 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 benign
Transcript: ENSMUST00000176624
|
| SMART Domains |
Protein: ENSMUSP00000135863
Gene: ENSMUSG00000003053
| 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: 53 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca7 |
T |
A |
10: 79,841,986 (GRCm39) |
S1040T |
probably benign |
Het |
| Adam25 |
T |
C |
8: 41,208,134 (GRCm39) |
Y467H |
probably benign |
Het |
| Ank1 |
A |
G |
8: 23,605,449 (GRCm39) |
I1061V |
probably benign |
Het |
| Anxa10 |
T |
C |
8: 62,529,348 (GRCm39) |
E123G |
probably damaging |
Het |
| Arhgap35 |
G |
A |
7: 16,297,128 (GRCm39) |
L646F |
probably damaging |
Het |
| Atp8b5 |
A |
G |
4: 43,320,590 (GRCm39) |
|
probably null |
Het |
| Brap |
A |
G |
5: 121,816,910 (GRCm39) |
|
probably benign |
Het |
| Carmil3 |
A |
G |
14: 55,730,993 (GRCm39) |
T87A |
probably damaging |
Het |
| Ccdc172 |
A |
G |
19: 58,541,309 (GRCm39) |
D256G |
possibly damaging |
Het |
| Cep350 |
C |
T |
1: 155,787,714 (GRCm39) |
A1375T |
probably benign |
Het |
| Chrdl2 |
A |
T |
7: 99,671,263 (GRCm39) |
Q127L |
probably benign |
Het |
| Ddi1 |
C |
A |
9: 6,266,226 (GRCm39) |
V48F |
probably benign |
Het |
| Ddrgk1 |
C |
T |
2: 130,497,166 (GRCm39) |
|
probably benign |
Het |
| Fastkd1 |
C |
T |
2: 69,524,932 (GRCm39) |
V626I |
possibly damaging |
Het |
| Fgd5 |
A |
G |
6: 92,001,543 (GRCm39) |
T755A |
probably benign |
Het |
| Fpgt |
G |
T |
3: 154,793,655 (GRCm39) |
T124K |
probably damaging |
Het |
| Gnl2 |
G |
A |
4: 124,941,405 (GRCm39) |
|
probably null |
Het |
| Got1 |
A |
T |
19: 43,504,284 (GRCm39) |
S46T |
probably benign |
Het |
| Hbb-bt |
G |
T |
7: 103,463,070 (GRCm39) |
H3N |
probably benign |
Het |
| Ikbke |
C |
T |
1: 131,199,838 (GRCm39) |
|
probably benign |
Het |
| Il2rb |
A |
G |
15: 78,365,897 (GRCm39) |
S467P |
probably benign |
Het |
| Kcnma1 |
A |
G |
14: 23,580,367 (GRCm39) |
|
probably benign |
Het |
| Ltbp2 |
T |
C |
12: 84,876,973 (GRCm39) |
N391D |
probably damaging |
Het |
| Npr3 |
A |
T |
15: 11,858,804 (GRCm39) |
I360N |
probably damaging |
Het |
| Nradd |
G |
A |
9: 110,451,237 (GRCm39) |
P44S |
possibly damaging |
Het |
| Or5m10 |
G |
T |
2: 85,717,711 (GRCm39) |
C189F |
probably damaging |
Het |
| Or7h8 |
G |
A |
9: 20,123,755 (GRCm39) |
V37I |
possibly damaging |
Het |
| Pcdh17 |
A |
G |
14: 84,770,537 (GRCm39) |
E1005G |
possibly damaging |
Het |
| Pcdhb11 |
A |
G |
18: 37,555,344 (GRCm39) |
T225A |
possibly damaging |
Het |
| Pja2 |
T |
C |
17: 64,604,821 (GRCm39) |
D454G |
probably benign |
Het |
| Pon3 |
T |
C |
6: 5,221,670 (GRCm39) |
Y320C |
probably damaging |
Het |
| Prl2a1 |
A |
G |
13: 27,990,261 (GRCm39) |
D70G |
probably damaging |
Het |
| Proc |
T |
A |
18: 32,260,472 (GRCm39) |
T218S |
probably benign |
Het |
| Proz |
G |
T |
8: 13,116,913 (GRCm39) |
G155V |
probably damaging |
Het |
| Rab11fip3 |
T |
C |
17: 26,286,977 (GRCm39) |
E392G |
possibly damaging |
Het |
| Rab3gap2 |
C |
T |
1: 184,999,220 (GRCm39) |
R976* |
probably null |
Het |
| Shisa2 |
G |
A |
14: 59,867,435 (GRCm39) |
C229Y |
probably damaging |
Het |
| Slc2a5 |
T |
C |
4: 150,226,675 (GRCm39) |
V379A |
probably damaging |
Het |
| Slc31a2 |
A |
T |
4: 62,214,197 (GRCm39) |
K47N |
probably damaging |
Het |
| Sult2a6 |
G |
A |
7: 13,987,411 (GRCm39) |
T88I |
probably benign |
Het |
| Tbc1d14 |
T |
C |
5: 36,662,381 (GRCm39) |
Y302C |
probably damaging |
Het |
| Thumpd3 |
C |
A |
6: 113,036,927 (GRCm39) |
N275K |
possibly damaging |
Het |
| Tnks2 |
T |
C |
19: 36,849,990 (GRCm39) |
|
probably null |
Het |
| Tube1 |
G |
A |
10: 39,011,041 (GRCm39) |
|
probably benign |
Het |
| Umodl1 |
T |
A |
17: 31,192,742 (GRCm39) |
Y290N |
probably damaging |
Het |
| Usp34 |
G |
A |
11: 23,402,661 (GRCm39) |
E726K |
probably damaging |
Het |
| Vmn2r84 |
T |
A |
10: 130,229,935 (GRCm39) |
D59V |
probably benign |
Het |
| Vps11 |
T |
A |
9: 44,267,516 (GRCm39) |
|
probably benign |
Het |
| Wdr19 |
T |
C |
5: 65,385,912 (GRCm39) |
Y631H |
probably benign |
Het |
| Wdr62 |
G |
A |
7: 29,957,526 (GRCm39) |
H88Y |
probably damaging |
Het |
| Wdr93 |
A |
T |
7: 79,402,253 (GRCm39) |
N184I |
probably damaging |
Het |
| Wnk4 |
T |
A |
11: 101,156,240 (GRCm39) |
F473Y |
probably damaging |
Het |
| Zbtb16 |
A |
G |
9: 48,568,483 (GRCm39) |
W661R |
probably damaging |
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 |
|
IGL01991:Cyp2c29
|
APN |
19 |
39,318,759 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02097:Cyp2c29
|
APN |
19 |
39,296,064 (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 |
2014-05-07 |
Incidental Mutation