Incidental Mutation 'R4424:Cyp2c29'
ID |
327304 |
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 |
041696-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.100)
|
Stock # |
R4424 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
19 |
Chromosomal Location |
39275541-39319157 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to T
at 39275620 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tryptophan to Leucine
at position 20
(W20L)
|
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: W20L
PolyPhen 2
Score 0.771 (Sensitivity: 0.85; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000003137 Gene: ENSMUSG00000003053 AA Change: W20L
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: W20L
PolyPhen 2
Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000135839 Gene: ENSMUSG00000003053 AA Change: W20L
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 |
0.7987 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.3%
|
Validation Efficiency |
95% (69/73) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 66 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4933409G03Rik |
A |
T |
2: 68,445,491 (GRCm39) |
|
probably benign |
Het |
Aimp1 |
A |
T |
3: 132,373,253 (GRCm39) |
L229Q |
probably benign |
Het |
Ankrd16 |
T |
A |
2: 11,789,215 (GRCm39) |
D267E |
possibly damaging |
Het |
Apol11b |
A |
G |
15: 77,522,133 (GRCm39) |
|
probably null |
Het |
Arfgap1 |
C |
A |
2: 180,622,869 (GRCm39) |
D327E |
probably benign |
Het |
Arid3b |
A |
T |
9: 57,741,151 (GRCm39) |
D98E |
probably benign |
Het |
Art2b |
T |
A |
7: 101,229,129 (GRCm39) |
I257F |
probably benign |
Het |
Atp5f1a |
T |
A |
18: 77,867,766 (GRCm39) |
|
probably benign |
Het |
Carmil3 |
A |
G |
14: 55,738,928 (GRCm39) |
T861A |
probably benign |
Het |
Cep164 |
A |
T |
9: 45,691,002 (GRCm39) |
F1259L |
possibly damaging |
Het |
Cfap91 |
G |
T |
16: 38,140,727 (GRCm39) |
P409T |
probably damaging |
Het |
Chrnd |
T |
C |
1: 87,123,512 (GRCm39) |
V350A |
probably benign |
Het |
Clcn7 |
T |
C |
17: 25,379,150 (GRCm39) |
L744P |
probably damaging |
Het |
Csl |
T |
A |
10: 99,594,453 (GRCm39) |
D204V |
possibly damaging |
Het |
Cstdc3 |
A |
G |
16: 36,132,951 (GRCm39) |
D76G |
probably null |
Het |
Dhrs13 |
G |
T |
11: 77,927,951 (GRCm39) |
G266* |
probably null |
Het |
Dll3 |
T |
C |
7: 27,995,716 (GRCm39) |
N362D |
probably damaging |
Het |
Efcab3 |
T |
G |
11: 104,626,940 (GRCm39) |
|
probably null |
Het |
Fanca |
A |
G |
8: 124,015,532 (GRCm39) |
V715A |
probably benign |
Het |
Fhod1 |
T |
C |
8: 106,063,983 (GRCm39) |
|
probably benign |
Het |
Fpr2 |
C |
T |
17: 18,113,394 (GRCm39) |
P130L |
probably damaging |
Het |
Glce |
A |
G |
9: 61,967,535 (GRCm39) |
Y539H |
probably damaging |
Het |
Hfe |
A |
T |
13: 23,890,866 (GRCm39) |
V91E |
probably benign |
Het |
Hoxd13 |
A |
T |
2: 74,500,301 (GRCm39) |
K281* |
probably null |
Het |
Ighv1-66 |
A |
T |
12: 115,557,157 (GRCm39) |
W3R |
probably damaging |
Het |
Impg2 |
G |
A |
16: 56,080,388 (GRCm39) |
V622I |
possibly damaging |
Het |
Jun |
A |
G |
4: 94,939,084 (GRCm39) |
M142T |
probably benign |
Het |
Krt78 |
T |
C |
15: 101,856,375 (GRCm39) |
T479A |
probably benign |
Het |
Lama3 |
T |
A |
18: 12,652,929 (GRCm39) |
C216* |
probably null |
Het |
Lin54 |
G |
T |
5: 100,594,419 (GRCm39) |
T582K |
probably damaging |
Het |
Mapk11 |
A |
G |
15: 89,029,576 (GRCm39) |
|
probably null |
Het |
Mindy3 |
A |
G |
2: 12,353,010 (GRCm39) |
M397T |
probably benign |
Het |
Mrpl41 |
T |
C |
2: 24,864,418 (GRCm39) |
T85A |
possibly damaging |
Het |
Msh6 |
T |
A |
17: 88,298,217 (GRCm39) |
L1354* |
probably null |
Het |
Mtmr12 |
T |
C |
15: 12,230,400 (GRCm39) |
V41A |
probably damaging |
Het |
Myh2 |
A |
T |
11: 67,083,551 (GRCm39) |
Q1478L |
probably benign |
Het |
Myo6 |
A |
G |
9: 80,195,320 (GRCm39) |
K897E |
probably benign |
Het |
Naprt |
G |
T |
15: 75,764,605 (GRCm39) |
|
probably null |
Het |
Nrl |
G |
A |
14: 55,759,675 (GRCm39) |
S84L |
probably benign |
Het |
Nxf1 |
A |
G |
19: 8,744,128 (GRCm39) |
|
probably benign |
Het |
Or8g2b |
A |
T |
9: 39,751,652 (GRCm39) |
R307S |
possibly damaging |
Het |
Panx2 |
G |
T |
15: 88,952,423 (GRCm39) |
V305F |
probably benign |
Het |
Pcdhga1 |
T |
C |
18: 37,795,632 (GRCm39) |
L212P |
probably damaging |
Het |
Pik3ap1 |
G |
A |
19: 41,364,320 (GRCm39) |
T133I |
probably benign |
Het |
Ppat |
A |
G |
5: 77,063,061 (GRCm39) |
W517R |
probably damaging |
Het |
Ppp1r16b |
C |
T |
2: 158,599,174 (GRCm39) |
T382I |
probably benign |
Het |
Prkdc |
G |
A |
16: 15,653,946 (GRCm39) |
R3901H |
probably damaging |
Het |
Prkdc |
A |
G |
16: 15,591,603 (GRCm39) |
K2694E |
probably damaging |
Het |
Psma8 |
A |
G |
18: 14,854,247 (GRCm39) |
I42M |
probably damaging |
Het |
Ptprd |
A |
T |
4: 76,021,200 (GRCm39) |
M599K |
probably benign |
Het |
Rnmt |
A |
G |
18: 68,444,742 (GRCm39) |
D237G |
probably null |
Het |
Rpl31-ps17 |
C |
T |
12: 54,748,397 (GRCm39) |
|
noncoding transcript |
Het |
Scaf11 |
G |
A |
15: 96,316,309 (GRCm39) |
T1085I |
possibly damaging |
Het |
Sec14l3 |
G |
A |
11: 4,016,210 (GRCm39) |
R43Q |
probably damaging |
Het |
Shc4 |
G |
T |
2: 125,494,442 (GRCm39) |
T131K |
probably benign |
Het |
Snx27 |
A |
G |
3: 94,469,330 (GRCm39) |
F4L |
probably benign |
Het |
Sorcs1 |
T |
C |
19: 50,367,379 (GRCm39) |
T228A |
probably damaging |
Het |
Spmap2l |
T |
C |
5: 77,202,383 (GRCm39) |
I268T |
possibly damaging |
Het |
Sptan1 |
C |
T |
2: 29,919,721 (GRCm39) |
|
probably benign |
Het |
Syvn1 |
C |
T |
19: 6,099,951 (GRCm39) |
|
probably benign |
Het |
Tex47 |
G |
T |
5: 7,355,364 (GRCm39) |
A182S |
probably benign |
Het |
Tpcn1 |
T |
C |
5: 120,680,583 (GRCm39) |
K549R |
probably damaging |
Het |
Upf3a |
C |
A |
8: 13,846,573 (GRCm39) |
P318T |
probably benign |
Het |
Zbtb40 |
A |
T |
4: 136,726,005 (GRCm39) |
M518K |
probably damaging |
Het |
Zcchc14 |
G |
A |
8: 122,378,680 (GRCm39) |
|
probably benign |
Het |
Zfp687 |
G |
A |
3: 94,916,439 (GRCm39) |
P861L |
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 |
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'- ATGGGCACTCTGTAAAGGTCAAG -3'
(R):5'- CACAATACTTGGCAAGAGGC -3'
Sequencing Primer
(F):5'- CTCTGTAAAGGTCAAGGGTAAATTAC -3'
(R):5'- AAGAGGCATGGCCTTATG -3'
|
Posted On |
2015-07-07 |