Incidental Mutation 'IGL03052:Cyp2c29'
| ID |
392207 |
| Institutional Source |
Beutler Lab
|
| 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 # |
IGL03052 (G1)
|
| Quality Score |
153 |
|
Status
|
Validated
|
| Chromosome |
19 |
| Chromosomal Location |
39275541-39319157 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 39275662 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Methionine
at position 34
(T34M)
|
| 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: T34M
PolyPhen 2
Score 0.883 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000003137
Gene: ENSMUSG00000003053
AA Change: T34M
| 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 |
possibly damaging
Transcript: ENSMUST00000177087
AA Change: T34M
PolyPhen 2
Score 0.899 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000135839
Gene: ENSMUSG00000003053
AA Change: T34M
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
7 |
19 |
N/A |
INTRINSIC |
|
Pfam:p450
|
30 |
118 |
8.4e-22 |
PFAM |
|
| Meta Mutation Damage Score |
0.1795 |
| Coding Region Coverage |
- 1x: 0.0%
- 3x: 0.0%
- 10x: 0.0%
- 20x: 0.0%
|
| Validation Efficiency |
100% (53/53) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 56 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acap3 |
T |
C |
4: 155,987,815 (GRCm39) |
F517S |
probably damaging |
Het |
| Afap1l1 |
A |
G |
18: 61,881,894 (GRCm39) |
V267A |
probably benign |
Het |
| Asap1 |
A |
G |
15: 64,025,683 (GRCm39) |
|
probably benign |
Het |
| Bcl6 |
T |
C |
16: 23,793,788 (GRCm39) |
|
probably benign |
Het |
| Ccdc73 |
C |
A |
2: 104,782,281 (GRCm39) |
H212Q |
possibly damaging |
Het |
| Cct5 |
A |
T |
15: 31,597,633 (GRCm39) |
H85Q |
probably damaging |
Het |
| Cfap69 |
A |
C |
5: 5,639,206 (GRCm39) |
L238R |
probably damaging |
Het |
| Chl1 |
A |
T |
6: 103,668,628 (GRCm39) |
T470S |
probably benign |
Het |
| Cnga4 |
T |
C |
7: 105,053,932 (GRCm39) |
S12P |
probably benign |
Het |
| Cyp2c67 |
T |
C |
19: 39,637,329 (GRCm39) |
D49G |
possibly damaging |
Het |
| Dab2ip |
A |
G |
2: 35,533,909 (GRCm39) |
Q45R |
probably benign |
Het |
| Ddhd1 |
A |
G |
14: 45,858,240 (GRCm39) |
V164A |
probably damaging |
Het |
| Dnaaf8 |
A |
T |
16: 4,795,358 (GRCm39) |
|
noncoding transcript |
Het |
| Dnah7c |
A |
G |
1: 46,671,309 (GRCm39) |
Y1566C |
probably damaging |
Het |
| Dnase1l2 |
T |
C |
17: 24,659,968 (GRCm39) |
|
probably benign |
Het |
| Dock2 |
G |
T |
11: 34,182,853 (GRCm39) |
N1593K |
probably benign |
Het |
| Dpp6 |
G |
T |
5: 27,914,506 (GRCm39) |
M530I |
probably benign |
Het |
| Epm2a |
T |
C |
10: 11,332,974 (GRCm39) |
V269A |
possibly damaging |
Het |
| Fcna |
G |
C |
2: 25,520,693 (GRCm39) |
|
probably benign |
Het |
| Fgf2 |
A |
G |
3: 37,403,161 (GRCm39) |
S55G |
probably benign |
Het |
| Frem3 |
C |
T |
8: 81,341,159 (GRCm39) |
P1151S |
probably damaging |
Het |
| Gm15737 |
T |
C |
6: 92,846,481 (GRCm39) |
|
probably benign |
Het |
| Gpi-ps |
T |
A |
8: 5,689,816 (GRCm39) |
|
noncoding transcript |
Het |
| Gvin-ps6 |
T |
C |
7: 106,022,902 (GRCm39) |
|
noncoding transcript |
Het |
| Hoxa3 |
G |
A |
6: 52,147,267 (GRCm39) |
|
probably benign |
Het |
| Larp7-ps |
A |
G |
4: 92,079,287 (GRCm39) |
L178P |
probably benign |
Het |
| Macf1 |
T |
C |
4: 123,281,188 (GRCm39) |
I3770V |
probably damaging |
Het |
| Mapk15 |
G |
T |
15: 75,865,731 (GRCm39) |
R8L |
probably benign |
Het |
| Mecom |
C |
T |
3: 30,015,112 (GRCm39) |
|
probably benign |
Het |
| Mknk2 |
C |
T |
10: 80,505,496 (GRCm39) |
R154H |
probably benign |
Het |
| Mrgprb3 |
A |
T |
7: 48,293,341 (GRCm39) |
V70E |
possibly damaging |
Het |
| Mtdh |
A |
G |
15: 34,140,876 (GRCm39) |
K570E |
possibly damaging |
Het |
| Myo5c |
G |
T |
9: 75,159,798 (GRCm39) |
|
probably benign |
Het |
| Myom2 |
T |
C |
8: 15,173,442 (GRCm39) |
|
probably benign |
Het |
| Or52m2 |
C |
T |
7: 102,263,656 (GRCm39) |
R180Q |
probably benign |
Het |
| Or5b124 |
T |
C |
19: 13,611,090 (GRCm39) |
I205T |
probably benign |
Het |
| Or7g25 |
A |
T |
9: 19,159,938 (GRCm39) |
Y252* |
probably null |
Het |
| Pcca |
A |
T |
14: 123,124,513 (GRCm39) |
M695L |
probably benign |
Het |
| Pcdha2 |
A |
T |
18: 37,074,670 (GRCm39) |
D767V |
probably damaging |
Het |
| Plekhs1 |
G |
A |
19: 56,459,189 (GRCm39) |
D16N |
probably benign |
Het |
| Prr11 |
T |
C |
11: 86,994,478 (GRCm39) |
N56S |
possibly damaging |
Het |
| Rxfp2 |
A |
T |
5: 149,966,645 (GRCm39) |
|
probably benign |
Het |
| Sacs |
G |
T |
14: 61,445,307 (GRCm39) |
G2451V |
probably damaging |
Het |
| Scarb1 |
G |
A |
5: 125,371,163 (GRCm39) |
A4V |
probably damaging |
Het |
| Scart2 |
G |
A |
7: 139,828,827 (GRCm39) |
C162Y |
probably damaging |
Het |
| Sik3 |
C |
A |
9: 46,109,447 (GRCm39) |
T475K |
probably damaging |
Het |
| Slco1b2 |
A |
T |
6: 141,594,311 (GRCm39) |
I59L |
probably benign |
Het |
| Sspo |
G |
A |
6: 48,437,387 (GRCm39) |
G1382R |
probably damaging |
Het |
| Stx16 |
C |
A |
2: 173,934,231 (GRCm39) |
P145T |
probably benign |
Het |
| Tnrc18 |
G |
A |
5: 142,760,974 (GRCm39) |
A674V |
unknown |
Het |
| Uqcrq |
A |
G |
11: 53,321,476 (GRCm39) |
V14A |
possibly damaging |
Het |
| Vmn2r79 |
A |
T |
7: 86,652,799 (GRCm39) |
E497V |
probably benign |
Het |
| Vps8 |
T |
A |
16: 21,267,115 (GRCm39) |
I166K |
probably damaging |
Het |
| Vwa8 |
A |
G |
14: 79,302,361 (GRCm39) |
D1010G |
probably benign |
Het |
| Wnk1 |
T |
A |
6: 119,921,760 (GRCm39) |
|
probably benign |
Het |
| Zfand3 |
T |
A |
17: 30,279,798 (GRCm39) |
M29K |
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 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- GTCAATGATGCTCAAAGTGGAG -3'
(R):5'- GACATAAGGTACACAATACTTGGCAAG -3'
Sequencing Primer
(F):5'- GATCTGGTCGTGTTCCTA -3'
(R):5'- CAAGTTATTAGTGGGGCC -3'
|
| Posted On |
2016-06-09 |
Incidental Mutation