Incidental Mutation 'R6464:Cyp2c29'
| ID |
517759 |
| 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 |
| MMRRC Submission |
044597-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.116)
|
| Stock # |
R6464 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
19 |
| Chromosomal Location |
39275541-39319157 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 39317669 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Cysteine
at position 385
(Y385C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000135863
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000003137]
[ENSMUST00000176624]
[ENSMUST00000177087]
|
| AlphaFold |
Q64458 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000003137
AA Change: Y424C
PolyPhen 2
Score 0.893 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000003137
Gene: ENSMUSG00000003053
AA Change: Y424C
| 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: Y385C
PolyPhen 2
Score 0.964 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000135863
Gene: ENSMUSG00000003053
AA Change: Y385C
| 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 |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 97.9%
- 20x: 93.8%
|
| Validation Efficiency |
100% (48/48) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 51 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc1 |
T |
A |
16: 14,265,354 (GRCm39) |
S769T |
probably damaging |
Het |
| Apoe |
G |
A |
7: 19,431,461 (GRCm39) |
T52M |
probably damaging |
Het |
| Arhgef10l |
A |
C |
4: 140,314,126 (GRCm39) |
M230R |
probably benign |
Het |
| Cdkl4 |
A |
T |
17: 80,832,781 (GRCm39) |
I321N |
probably benign |
Het |
| Ceacam5 |
T |
C |
7: 17,481,391 (GRCm39) |
|
probably null |
Het |
| Cfap70 |
T |
C |
14: 20,451,107 (GRCm39) |
|
probably null |
Het |
| Clasp2 |
A |
G |
9: 113,602,785 (GRCm39) |
Y195C |
probably damaging |
Het |
| Clip2 |
T |
C |
5: 134,520,779 (GRCm39) |
I999V |
probably benign |
Het |
| Cntnap5a |
A |
G |
1: 116,112,138 (GRCm39) |
D476G |
probably benign |
Het |
| Col6a6 |
C |
T |
9: 105,666,152 (GRCm39) |
M1I |
probably null |
Het |
| Cyp27a1 |
T |
C |
1: 74,775,047 (GRCm39) |
V292A |
possibly damaging |
Het |
| Dsg3 |
A |
C |
18: 20,666,583 (GRCm39) |
R597S |
probably benign |
Het |
| Fam131c |
T |
C |
4: 141,109,653 (GRCm39) |
I95T |
probably damaging |
Het |
| Fam13b |
A |
T |
18: 34,606,684 (GRCm39) |
C302* |
probably null |
Het |
| Fkbp15 |
T |
C |
4: 62,226,315 (GRCm39) |
K745E |
possibly damaging |
Het |
| Flg |
T |
A |
3: 93,188,688 (GRCm39) |
|
probably benign |
Het |
| Gm11559 |
T |
C |
11: 99,755,542 (GRCm39) |
C64R |
unknown |
Het |
| Helt |
T |
C |
8: 46,745,571 (GRCm39) |
D104G |
probably damaging |
Het |
| Helz2 |
T |
C |
2: 180,876,862 (GRCm39) |
T1211A |
probably benign |
Het |
| Ifna9 |
T |
C |
4: 88,510,487 (GRCm39) |
R46G |
possibly damaging |
Het |
| Kif20b |
G |
A |
19: 34,911,841 (GRCm39) |
V235I |
probably benign |
Het |
| Kif7 |
A |
G |
7: 79,363,842 (GRCm39) |
V22A |
possibly damaging |
Het |
| Klra9 |
G |
T |
6: 130,155,995 (GRCm39) |
Y253* |
probably null |
Het |
| Lipf |
A |
T |
19: 33,950,944 (GRCm39) |
Y305F |
probably benign |
Het |
| Lpar1 |
A |
G |
4: 58,486,875 (GRCm39) |
L132P |
possibly damaging |
Het |
| Magi1 |
A |
T |
6: 93,676,770 (GRCm39) |
V834E |
probably damaging |
Het |
| Meltf |
T |
C |
16: 31,709,594 (GRCm39) |
Y432H |
probably benign |
Het |
| Mroh2a |
G |
C |
1: 88,185,524 (GRCm39) |
E1510D |
probably damaging |
Het |
| Myo1f |
T |
C |
17: 33,795,621 (GRCm39) |
L59P |
probably damaging |
Het |
| Naa25 |
G |
A |
5: 121,556,024 (GRCm39) |
D271N |
probably damaging |
Het |
| Or10ag55-ps1 |
A |
T |
2: 87,139,951 (GRCm39) |
I273F |
probably damaging |
Het |
| Or8u3-ps |
A |
T |
2: 85,952,752 (GRCm39) |
I162F |
possibly damaging |
Het |
| Otoa |
A |
G |
7: 120,701,828 (GRCm39) |
Q169R |
probably damaging |
Het |
| Pde4dip |
C |
T |
3: 97,617,660 (GRCm39) |
D1723N |
probably damaging |
Het |
| Ptdss2 |
T |
C |
7: 140,732,124 (GRCm39) |
V175A |
probably damaging |
Het |
| Rdh8 |
G |
T |
9: 20,734,696 (GRCm39) |
R121L |
probably damaging |
Het |
| Rpl23 |
T |
C |
11: 97,669,111 (GRCm39) |
|
probably null |
Het |
| Scn5a |
T |
C |
9: 119,363,646 (GRCm39) |
D498G |
probably damaging |
Het |
| Slc39a14 |
G |
C |
14: 70,544,177 (GRCm39) |
L470V |
probably damaging |
Het |
| Smok2a |
C |
T |
17: 13,445,317 (GRCm39) |
A298V |
probably damaging |
Het |
| Tesk2 |
A |
C |
4: 116,660,046 (GRCm39) |
D388A |
probably damaging |
Het |
| Tnik |
G |
A |
3: 28,666,119 (GRCm39) |
|
probably null |
Het |
| Ube3a |
T |
A |
7: 58,925,931 (GRCm39) |
Y236* |
probably null |
Het |
| Ugt1a1 |
CAGAGAGAGAGAGA |
CAGAGAGAGAGA |
1: 88,139,706 (GRCm39) |
|
probably benign |
Het |
| Vinac1 |
T |
C |
2: 128,881,465 (GRCm39) |
T154A |
possibly damaging |
Het |
| Vmn1r74 |
A |
T |
7: 11,581,131 (GRCm39) |
I144L |
possibly damaging |
Het |
| Vmn2r1 |
G |
A |
3: 64,008,766 (GRCm39) |
D482N |
probably benign |
Het |
| Vwf |
T |
C |
6: 125,616,363 (GRCm39) |
|
probably null |
Het |
| Wdr97 |
A |
G |
15: 76,246,977 (GRCm39) |
T1413A |
probably benign |
Het |
| Zfp703 |
C |
G |
8: 27,469,355 (GRCm39) |
P340A |
probably damaging |
Het |
| Znfx1 |
T |
C |
2: 166,888,842 (GRCm39) |
S789G |
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 |
|
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 |
|
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'- CCTGGCATATTTTAGCTCCATG -3'
(R):5'- CTTGTAGTTACCTAACTGAGCATG -3'
Sequencing Primer
(F):5'- AGCTCCATGATTTCTTTGTAACTTG -3'
(R):5'- TTACCTAACTGAGCATGGAGGTG -3'
|
| Posted On |
2018-05-21 |
Incidental Mutation