Incidental Mutation 'IGL03367:Cyp2c29'
| ID |
420122 |
| 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 # |
IGL03367
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
19 |
| Chromosomal Location |
39275541-39319157 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 39317659 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Glutamic Acid
at position 382
(K382E)
|
| 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: K421E
PolyPhen 2
Score 0.973 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000003137
Gene: ENSMUSG00000003053
AA Change: K421E
| 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: K382E
PolyPhen 2
Score 0.973 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000135863
Gene: ENSMUSG00000003053
AA Change: K382E
| 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: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc5 |
A |
T |
16: 20,211,561 (GRCm39) |
|
probably benign |
Het |
| Adra1a |
G |
A |
14: 66,875,438 (GRCm39) |
V138I |
possibly damaging |
Het |
| Alpk3 |
A |
G |
7: 80,744,738 (GRCm39) |
I1278V |
probably benign |
Het |
| Asb6 |
A |
T |
2: 30,714,691 (GRCm39) |
I185N |
possibly damaging |
Het |
| Atg9a |
A |
G |
1: 75,164,601 (GRCm39) |
V121A |
probably benign |
Het |
| Cdc42bpb |
A |
G |
12: 111,302,593 (GRCm39) |
Y155H |
probably damaging |
Het |
| Ceacam15 |
A |
C |
7: 16,409,512 (GRCm39) |
S8A |
possibly damaging |
Het |
| Cep170b |
T |
A |
12: 112,703,672 (GRCm39) |
D615E |
probably benign |
Het |
| Cntn6 |
G |
T |
6: 104,781,299 (GRCm39) |
G462C |
probably damaging |
Het |
| Col8a2 |
A |
G |
4: 126,205,991 (GRCm39) |
D667G |
probably damaging |
Het |
| Dgkd |
T |
C |
1: 87,868,030 (GRCm39) |
|
probably null |
Het |
| Dkk2 |
C |
T |
3: 131,883,838 (GRCm39) |
T246I |
probably damaging |
Het |
| Dnah5 |
T |
C |
15: 28,234,473 (GRCm39) |
L294P |
possibly damaging |
Het |
| Erbb2 |
G |
T |
11: 98,313,701 (GRCm39) |
|
probably null |
Het |
| Fn1 |
A |
G |
1: 71,636,712 (GRCm39) |
F2147L |
probably benign |
Het |
| Gm11149 |
G |
A |
9: 49,457,646 (GRCm39) |
|
probably benign |
Het |
| Gnrhr |
C |
T |
5: 86,330,190 (GRCm39) |
V277I |
probably benign |
Het |
| H2-T10 |
T |
A |
17: 36,431,285 (GRCm39) |
E129V |
possibly damaging |
Het |
| Hmgcr |
T |
C |
13: 96,802,361 (GRCm39) |
T108A |
probably damaging |
Het |
| Hnrnph3 |
A |
T |
10: 62,853,008 (GRCm39) |
I196N |
probably damaging |
Het |
| Insyn1 |
A |
G |
9: 58,406,381 (GRCm39) |
H97R |
probably damaging |
Het |
| Kcnq5 |
T |
C |
1: 21,473,289 (GRCm39) |
K653E |
probably damaging |
Het |
| Lgi2 |
C |
A |
5: 52,719,502 (GRCm39) |
D100Y |
probably damaging |
Het |
| Mettl15 |
T |
A |
2: 108,961,916 (GRCm39) |
H231L |
probably benign |
Het |
| Mthfd1l |
A |
G |
10: 4,056,536 (GRCm39) |
|
probably benign |
Het |
| Pik3cg |
A |
G |
12: 32,242,120 (GRCm39) |
S997P |
probably benign |
Het |
| Pla2g1b |
T |
C |
5: 115,610,173 (GRCm39) |
C105R |
probably damaging |
Het |
| Ppil1 |
A |
T |
17: 29,471,218 (GRCm39) |
|
probably benign |
Het |
| Pramel22 |
C |
T |
4: 143,382,193 (GRCm39) |
V168I |
possibly damaging |
Het |
| Rbbp8 |
A |
G |
18: 11,854,776 (GRCm39) |
T334A |
probably benign |
Het |
| Slc15a4 |
T |
C |
5: 127,679,005 (GRCm39) |
Y445C |
probably damaging |
Het |
| Sox14 |
A |
C |
9: 99,757,715 (GRCm39) |
I8S |
probably damaging |
Het |
| Spice1 |
A |
G |
16: 44,176,541 (GRCm39) |
T44A |
probably damaging |
Het |
| Sult3a1 |
G |
T |
10: 33,753,342 (GRCm39) |
V213L |
probably benign |
Het |
| Vkorc1l1 |
C |
A |
5: 130,011,148 (GRCm39) |
Y111* |
probably null |
Het |
| Wdr47 |
G |
T |
3: 108,537,089 (GRCm39) |
|
probably benign |
Het |
| Wdr90 |
A |
G |
17: 26,066,765 (GRCm39) |
|
probably benign |
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 |
|
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 |
|
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 |
2016-08-02 |
Incidental Mutation