Incidental Mutation 'R7040:Cyp2c29'
ID |
547031 |
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 |
045013-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.116)
|
Stock # |
R7040 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
19 |
Chromosomal Location |
39275541-39319157 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to C
at 39318781 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Lysine to Asparagine
at position 420
(K420N)
|
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: K459N
PolyPhen 2
Score 0.955 (Sensitivity: 0.79; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000003137 Gene: ENSMUSG00000003053 AA Change: K459N
Domain | Start | End | E-Value | Type |
low complexity region
|
7 |
19 |
N/A |
INTRINSIC |
Pfam:p450
|
30 |
487 |
5.4e-165 |
PFAM |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000176624
AA Change: K420N
PolyPhen 2
Score 0.955 (Sensitivity: 0.79; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000135863 Gene: ENSMUSG00000003053 AA Change: K420N
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: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 98.9%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 54 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
9130023H24Rik |
A |
G |
7: 127,835,897 (GRCm39) |
L232P |
possibly damaging |
Het |
Acaa1a |
T |
C |
9: 119,178,104 (GRCm39) |
V312A |
probably damaging |
Het |
Bmp2 |
A |
G |
2: 133,403,604 (GRCm39) |
D385G |
probably damaging |
Het |
C1qtnf9 |
T |
C |
14: 61,017,241 (GRCm39) |
V257A |
probably damaging |
Het |
Cd3d |
G |
A |
9: 44,896,991 (GRCm39) |
V122I |
probably damaging |
Het |
Cdc37 |
T |
C |
9: 21,053,519 (GRCm39) |
E199G |
probably damaging |
Het |
Crb2 |
T |
A |
2: 37,677,696 (GRCm39) |
D326E |
probably benign |
Het |
Cyp2g1 |
A |
C |
7: 26,520,184 (GRCm39) |
D472A |
probably damaging |
Het |
Dab2 |
A |
C |
15: 6,451,732 (GRCm39) |
H116P |
probably damaging |
Het |
Dnah7b |
G |
C |
1: 46,275,969 (GRCm39) |
E2619Q |
probably benign |
Het |
Dsg4 |
A |
T |
18: 20,584,909 (GRCm39) |
M208L |
probably benign |
Het |
Eif4enif1 |
T |
G |
11: 3,184,040 (GRCm39) |
V521G |
probably benign |
Het |
Fan1 |
T |
A |
7: 64,022,234 (GRCm39) |
N340Y |
probably damaging |
Het |
Fpr-rs6 |
A |
G |
17: 20,403,196 (GRCm39) |
M55T |
probably damaging |
Het |
Grhpr |
A |
G |
4: 44,985,362 (GRCm39) |
S101G |
probably damaging |
Het |
Kif15 |
T |
A |
9: 122,840,679 (GRCm39) |
D33E |
possibly damaging |
Het |
Krt1 |
AAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCAC |
AAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCAC |
15: 101,758,813 (GRCm39) |
|
probably benign |
Het |
Lama4 |
A |
G |
10: 38,936,158 (GRCm39) |
Q611R |
possibly damaging |
Het |
Lrrc47 |
T |
A |
4: 154,104,909 (GRCm39) |
*123R |
probably null |
Het |
Map4k3 |
A |
C |
17: 80,988,344 (GRCm39) |
V36G |
probably damaging |
Het |
Mme |
T |
A |
3: 63,276,344 (GRCm39) |
I707N |
probably damaging |
Het |
Muc2 |
A |
G |
7: 141,305,194 (GRCm39) |
E166G |
unknown |
Het |
Mucl1 |
T |
A |
15: 103,783,844 (GRCm39) |
T108S |
possibly damaging |
Het |
Myo1h |
A |
T |
5: 114,497,805 (GRCm39) |
D53V |
possibly damaging |
Het |
Naa15 |
T |
A |
3: 51,380,205 (GRCm39) |
L811Q |
possibly damaging |
Het |
Nalcn |
T |
C |
14: 123,525,267 (GRCm39) |
T1487A |
probably benign |
Het |
Nme8 |
A |
T |
13: 19,878,498 (GRCm39) |
L87H |
probably damaging |
Het |
Nr2e1 |
A |
G |
10: 42,444,374 (GRCm39) |
V245A |
probably damaging |
Het |
Nt5c2 |
A |
T |
19: 46,881,974 (GRCm39) |
F291Y |
possibly damaging |
Het |
Ooep |
T |
C |
9: 78,285,683 (GRCm39) |
N43S |
possibly damaging |
Het |
Or10ak13 |
T |
C |
4: 118,639,183 (GRCm39) |
M200V |
probably benign |
Het |
Or4e1 |
T |
C |
14: 52,700,932 (GRCm39) |
D178G |
possibly damaging |
Het |
Or52i2 |
A |
T |
7: 102,319,937 (GRCm39) |
Q270L |
probably benign |
Het |
Or52n2c |
A |
T |
7: 104,574,717 (GRCm39) |
C85S |
probably benign |
Het |
Ovch2 |
A |
T |
7: 107,395,772 (GRCm39) |
I82N |
probably damaging |
Het |
Palb2 |
A |
T |
7: 121,713,622 (GRCm39) |
M524K |
possibly damaging |
Het |
Patj |
T |
C |
4: 98,329,317 (GRCm39) |
S524P |
probably benign |
Het |
Patl1 |
T |
A |
19: 11,907,318 (GRCm39) |
Y401N |
possibly damaging |
Het |
Pcdhb20 |
A |
T |
18: 37,637,770 (GRCm39) |
T99S |
probably benign |
Het |
Plcb4 |
G |
A |
2: 135,774,182 (GRCm39) |
A155T |
probably benign |
Het |
Rpap3 |
A |
G |
15: 97,576,993 (GRCm39) |
V585A |
possibly damaging |
Het |
Sorbs1 |
G |
C |
19: 40,365,244 (GRCm39) |
R180G |
probably benign |
Het |
Spen |
T |
A |
4: 141,221,693 (GRCm39) |
T302S |
unknown |
Het |
Tenm4 |
G |
A |
7: 96,202,703 (GRCm39) |
R106H |
probably benign |
Het |
Ube2o |
T |
C |
11: 116,432,686 (GRCm39) |
E760G |
probably benign |
Het |
Uimc1 |
T |
A |
13: 55,223,267 (GRCm39) |
|
probably null |
Het |
Usp16 |
C |
T |
16: 87,277,817 (GRCm39) |
A689V |
probably damaging |
Het |
Vmn2r60 |
G |
A |
7: 41,791,666 (GRCm39) |
A530T |
probably benign |
Het |
Vps8 |
T |
A |
16: 21,393,772 (GRCm39) |
M1185K |
probably damaging |
Het |
Vwa8 |
T |
C |
14: 79,149,645 (GRCm39) |
S136P |
probably damaging |
Het |
Ythdc2 |
A |
G |
18: 44,967,529 (GRCm39) |
N175S |
probably benign |
Het |
Zfp160 |
A |
T |
17: 21,246,794 (GRCm39) |
H448L |
probably damaging |
Het |
Zfp90 |
T |
A |
8: 107,151,641 (GRCm39) |
C451* |
probably null |
Het |
Zfp945 |
A |
G |
17: 23,071,264 (GRCm39) |
C212R |
probably damaging |
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 |
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 |
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'- CTCAGCCATCCATCTAATCACCT -3'
(R):5'- AAGCCAGGATGAAAGATACCAT -3'
Sequencing Primer
(F):5'- GCCATCCATCTAATCACCTATACAC -3'
(R):5'- AGGATGAAAGATACCATATCCCTG -3'
|
Posted On |
2019-05-13 |