Incidental Mutation 'IGL02938:Cyp2c29'
| ID |
364423 |
| 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 # |
IGL02938
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
19 |
| Chromosomal Location |
39275541-39319157 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 39275567 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 2
(D2E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000135839
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000003137]
[ENSMUST00000176624]
[ENSMUST00000177087]
|
| AlphaFold |
Q64458 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000003137
AA Change: D2E
PolyPhen 2
Score 0.889 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000003137
Gene: ENSMUSG00000003053
AA Change: D2E
| 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 damaging
Transcript: ENSMUST00000177087
AA Change: D2E
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000135839
Gene: ENSMUSG00000003053
AA Change: D2E
| 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: 56 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc5 |
T |
C |
16: 20,180,979 (GRCm39) |
T1152A |
possibly damaging |
Het |
| Adgra3 |
T |
C |
5: 50,118,659 (GRCm39) |
D963G |
probably benign |
Het |
| Adrm1 |
T |
A |
2: 179,817,395 (GRCm39) |
D287E |
probably damaging |
Het |
| Agxt |
A |
G |
1: 93,072,831 (GRCm39) |
D396G |
probably damaging |
Het |
| Ankle1 |
C |
T |
8: 71,858,896 (GRCm39) |
A43V |
probably damaging |
Het |
| Apc |
A |
G |
18: 34,448,281 (GRCm39) |
I1692V |
probably damaging |
Het |
| Arhgef18 |
T |
C |
8: 3,500,802 (GRCm39) |
V588A |
probably benign |
Het |
| Ccdc62 |
T |
A |
5: 124,072,247 (GRCm39) |
V4E |
probably benign |
Het |
| Cdh16 |
A |
T |
8: 105,343,561 (GRCm39) |
|
probably benign |
Het |
| Cr2 |
A |
T |
1: 194,848,696 (GRCm39) |
C276S |
probably damaging |
Het |
| Ddx31 |
T |
A |
2: 28,749,035 (GRCm39) |
V277E |
possibly damaging |
Het |
| Defa35 |
C |
T |
8: 21,555,930 (GRCm39) |
|
probably benign |
Het |
| Dhx9 |
A |
T |
1: 153,340,376 (GRCm39) |
D707E |
probably benign |
Het |
| Dnmt1 |
A |
G |
9: 20,852,669 (GRCm39) |
S28P |
probably benign |
Het |
| Dock5 |
A |
T |
14: 67,994,667 (GRCm39) |
|
probably benign |
Het |
| Dpp6 |
T |
C |
5: 27,928,365 (GRCm39) |
|
probably benign |
Het |
| Egln1 |
A |
G |
8: 125,640,754 (GRCm39) |
|
probably null |
Het |
| Esr1 |
T |
A |
10: 4,733,872 (GRCm39) |
M224K |
probably damaging |
Het |
| Flt1 |
A |
G |
5: 147,615,109 (GRCm39) |
I279T |
possibly damaging |
Het |
| Fzd6 |
T |
C |
15: 38,897,285 (GRCm39) |
I478T |
probably benign |
Het |
| Glb1l3 |
A |
G |
9: 26,738,055 (GRCm39) |
V368A |
probably benign |
Het |
| Gltpd2 |
T |
C |
11: 70,410,637 (GRCm39) |
F5S |
probably damaging |
Het |
| Helz |
G |
A |
11: 107,577,264 (GRCm39) |
E1872K |
unknown |
Het |
| Irak3 |
A |
G |
10: 120,018,429 (GRCm39) |
|
probably null |
Het |
| Itsn2 |
A |
T |
12: 4,747,216 (GRCm39) |
I1206F |
probably damaging |
Het |
| Lingo3 |
A |
T |
10: 80,670,988 (GRCm39) |
V314E |
probably benign |
Het |
| Lrrc8a |
C |
T |
2: 30,145,698 (GRCm39) |
R171W |
probably damaging |
Het |
| Lsg1 |
T |
C |
16: 30,390,024 (GRCm39) |
T364A |
probably benign |
Het |
| Mks1 |
T |
C |
11: 87,753,478 (GRCm39) |
|
probably null |
Het |
| Mov10l1 |
T |
A |
15: 88,872,729 (GRCm39) |
F89Y |
probably damaging |
Het |
| Myo1b |
A |
C |
1: 51,840,337 (GRCm39) |
|
probably null |
Het |
| Myo1h |
T |
C |
5: 114,497,000 (GRCm39) |
Y819H |
probably damaging |
Het |
| Nedd1 |
G |
A |
10: 92,525,519 (GRCm39) |
Q597* |
probably null |
Het |
| Nrn1 |
C |
A |
13: 36,914,080 (GRCm39) |
|
probably null |
Het |
| Or5an9 |
A |
G |
19: 12,187,046 (GRCm39) |
T39A |
probably benign |
Het |
| Pbrm1 |
T |
C |
14: 30,789,761 (GRCm39) |
S792P |
probably damaging |
Het |
| Pccb |
T |
C |
9: 100,866,449 (GRCm39) |
N457S |
probably benign |
Het |
| Plekho2 |
T |
C |
9: 65,465,902 (GRCm39) |
E162G |
possibly damaging |
Het |
| Pou1f1 |
A |
T |
16: 65,320,430 (GRCm39) |
T40S |
probably benign |
Het |
| Pwwp2b |
T |
C |
7: 138,836,059 (GRCm39) |
V500A |
probably damaging |
Het |
| Pygo1 |
C |
T |
9: 72,852,020 (GRCm39) |
A69V |
probably damaging |
Het |
| Slc18a3 |
A |
C |
14: 32,185,772 (GRCm39) |
Y204D |
probably damaging |
Het |
| Stab2 |
A |
G |
10: 86,707,785 (GRCm39) |
V261A |
possibly damaging |
Het |
| Tacc2 |
A |
T |
7: 130,330,671 (GRCm39) |
K208N |
probably damaging |
Het |
| Tbc1d4 |
T |
C |
14: 101,738,536 (GRCm39) |
D403G |
probably damaging |
Het |
| Tbc1d9 |
T |
A |
8: 83,995,696 (GRCm39) |
|
probably benign |
Het |
| Tdrkh |
T |
C |
3: 94,336,657 (GRCm39) |
|
probably benign |
Het |
| Tktl2 |
T |
A |
8: 66,964,982 (GRCm39) |
L180H |
probably damaging |
Het |
| Tm4sf19 |
T |
A |
16: 32,224,733 (GRCm39) |
L27Q |
probably damaging |
Het |
| Tmtc2 |
A |
G |
10: 105,249,157 (GRCm39) |
V192A |
probably damaging |
Het |
| Ttn |
C |
A |
2: 76,543,328 (GRCm39) |
M33219I |
probably damaging |
Het |
| Vmn1r52 |
A |
T |
6: 90,156,295 (GRCm39) |
M200L |
possibly damaging |
Het |
| Vmn2r114 |
T |
A |
17: 23,510,263 (GRCm39) |
H739L |
probably benign |
Het |
| Wdr20rt |
T |
C |
12: 65,272,692 (GRCm39) |
F52L |
probably benign |
Het |
| Zbtb38 |
C |
T |
9: 96,569,227 (GRCm39) |
G619D |
probably benign |
Het |
| Zfyve19 |
T |
C |
2: 119,041,999 (GRCm39) |
V156A |
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 |
|
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 |
2015-12-18 |
Incidental Mutation