Incidental Mutation 'R4451:Cyp2c29'
| ID |
328988 |
| 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 |
041712-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.116)
|
| Stock # |
R4451 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
19 |
| Chromosomal Location |
39275541-39319157 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 39279270 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Valine
at position 50
(D50V)
|
| 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: D89V
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000003137
Gene: ENSMUSG00000003053
AA Change: D89V
| 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: D50V
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000135863
Gene: ENSMUSG00000003053
AA Change: D50V
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:p450
|
12 |
448 |
2.7e-156 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000177087
AA Change: D89V
PolyPhen 2
Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000135839
Gene: ENSMUSG00000003053
AA Change: D89V
| 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 |
0.6714 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.6%
|
| Validation Efficiency |
100% (43/43) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Arap2 |
A |
C |
5: 62,906,513 (GRCm39) |
F169V |
probably benign |
Het |
| Baiap2l1 |
T |
A |
5: 144,215,362 (GRCm39) |
Y381F |
probably damaging |
Het |
| Cdc27 |
A |
T |
11: 104,408,221 (GRCm39) |
M563K |
probably benign |
Het |
| Cela3b |
G |
A |
4: 137,148,355 (GRCm39) |
|
probably benign |
Het |
| Dbpht2 |
A |
T |
12: 74,345,806 (GRCm39) |
|
noncoding transcript |
Het |
| Dnah9 |
T |
A |
11: 65,772,467 (GRCm39) |
Q3755L |
probably benign |
Het |
| Dnajc2 |
T |
C |
5: 21,962,792 (GRCm39) |
T588A |
possibly damaging |
Het |
| Dync2h1 |
T |
A |
9: 6,983,477 (GRCm39) |
R4022S |
probably benign |
Het |
| Gm20481 |
T |
G |
17: 35,191,109 (GRCm39) |
|
probably benign |
Het |
| Gm7347 |
A |
G |
5: 26,260,004 (GRCm39) |
I182T |
possibly damaging |
Het |
| Gns |
G |
A |
10: 121,212,601 (GRCm39) |
G188S |
probably damaging |
Het |
| Grm5 |
T |
G |
7: 87,724,340 (GRCm39) |
|
probably null |
Het |
| Gstm4 |
T |
C |
3: 107,951,291 (GRCm39) |
|
probably null |
Het |
| Il7r |
T |
A |
15: 9,513,034 (GRCm39) |
K158N |
probably benign |
Het |
| Irs1 |
T |
C |
1: 82,266,749 (GRCm39) |
Y489C |
probably benign |
Het |
| Kcns1 |
C |
T |
2: 164,010,598 (GRCm39) |
E54K |
possibly damaging |
Het |
| Klra5 |
T |
A |
6: 129,885,797 (GRCm39) |
R31* |
probably null |
Het |
| Krt13 |
T |
C |
11: 100,008,827 (GRCm39) |
T409A |
unknown |
Het |
| Lce1e |
C |
T |
3: 92,614,967 (GRCm39) |
G127S |
unknown |
Het |
| Mfsd14a |
T |
C |
3: 116,456,127 (GRCm39) |
M1V |
probably null |
Het |
| Micall2 |
T |
C |
5: 139,692,852 (GRCm39) |
E891G |
probably damaging |
Het |
| Mpeg1 |
A |
T |
19: 12,440,596 (GRCm39) |
K685* |
probably null |
Het |
| Nbea |
A |
G |
3: 55,899,753 (GRCm39) |
|
probably null |
Het |
| Nup155 |
A |
G |
15: 8,180,366 (GRCm39) |
M1148V |
probably benign |
Het |
| Or51aa5 |
A |
G |
7: 103,167,184 (GRCm39) |
S136P |
probably damaging |
Het |
| Or5m3b |
T |
C |
2: 85,872,303 (GRCm39) |
S215P |
probably damaging |
Het |
| Otof |
T |
A |
5: 30,542,508 (GRCm39) |
D695V |
possibly damaging |
Het |
| Ptf1a |
G |
T |
2: 19,451,092 (GRCm39) |
A141S |
possibly damaging |
Het |
| Pxmp2 |
A |
T |
5: 110,425,531 (GRCm39) |
V168E |
probably damaging |
Het |
| Rab11fip1 |
T |
C |
8: 27,644,505 (GRCm39) |
K427E |
probably damaging |
Het |
| Susd2 |
A |
G |
10: 75,475,232 (GRCm39) |
V526A |
probably damaging |
Het |
| Tbx2 |
T |
C |
11: 85,731,643 (GRCm39) |
S647P |
probably damaging |
Het |
| Tg |
A |
G |
15: 66,637,996 (GRCm39) |
T651A |
probably benign |
Het |
| Trim68 |
T |
A |
7: 102,333,680 (GRCm39) |
M1L |
probably damaging |
Het |
| Ttn |
A |
C |
2: 76,584,250 (GRCm39) |
L20540* |
probably null |
Het |
| Usf3 |
A |
T |
16: 44,038,251 (GRCm39) |
K910N |
possibly damaging |
Het |
| Vmn1r14 |
T |
G |
6: 57,211,213 (GRCm39) |
Y220D |
possibly damaging |
Het |
| Vmn1r209 |
T |
A |
13: 22,990,668 (GRCm39) |
K7N |
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 |
|
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'- AGAACCATTTGAAGGTACATTTGCC -3'
(R):5'- ATAGAGTGGCCCCATTGTCC -3'
Sequencing Primer
(F):5'- AATATCAGCATGAATGAGGTTTACAC -3'
(R):5'- CCCATTGTCCCTACGAAGG -3'
|
| Posted On |
2015-07-21 |
Incidental Mutation