Incidental Mutation 'R6390:Cyp2d26'
| ID |
515736 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cyp2d26
|
| Ensembl Gene |
ENSMUSG00000022445 |
| Gene Name |
cytochrome P450, family 2, subfamily d, polypeptide 26 |
| Synonyms |
1300006E06Rik |
| MMRRC Submission |
044539-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.090)
|
| Stock # |
R6390 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
15 |
| Chromosomal Location |
82674302-82678495 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 82676825 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Proline to Serine
at position 174
(P174S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000006094
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000006094]
[ENSMUST00000229387]
[ENSMUST00000229512]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000006094
AA Change: P174S
PolyPhen 2
Score 0.676 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000006094
Gene: ENSMUSG00000022445
AA Change: P174S
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
10 |
27 |
N/A |
INTRINSIC |
|
Pfam:p450
|
37 |
497 |
3.5e-141 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000229387
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000229512
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000230125
|
| Meta Mutation Damage Score |
0.1795 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.2%
- 20x: 97.4%
|
| Validation Efficiency |
100% (29/29) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Atg9a |
G |
T |
1: 75,164,625 (GRCm39) |
P113Q |
probably damaging |
Het |
| Ccdc150 |
A |
G |
1: 54,407,176 (GRCm39) |
D1073G |
probably benign |
Het |
| Cd8a |
A |
G |
6: 71,350,913 (GRCm39) |
Y126C |
probably damaging |
Het |
| Cdca8 |
A |
G |
4: 124,830,168 (GRCm39) |
M68T |
probably damaging |
Het |
| Dnai3 |
A |
G |
3: 145,801,143 (GRCm39) |
L105P |
probably damaging |
Het |
| Esco1 |
T |
G |
18: 10,567,528 (GRCm39) |
N311H |
probably damaging |
Het |
| Evx1 |
A |
G |
6: 52,292,842 (GRCm39) |
M183V |
probably benign |
Het |
| Fam111a |
T |
G |
19: 12,565,524 (GRCm39) |
Y424* |
probably null |
Het |
| Fat4 |
T |
C |
3: 39,034,529 (GRCm39) |
I2727T |
probably damaging |
Het |
| Ggt6 |
T |
A |
11: 72,327,437 (GRCm39) |
Y107N |
possibly damaging |
Het |
| Habp2 |
G |
C |
19: 56,295,255 (GRCm39) |
E49Q |
possibly damaging |
Het |
| Hibadh |
A |
C |
6: 52,533,474 (GRCm39) |
L214R |
probably damaging |
Het |
| Ift57 |
T |
G |
16: 49,582,836 (GRCm39) |
|
probably null |
Het |
| Irak4 |
T |
C |
15: 94,459,367 (GRCm39) |
S328P |
probably damaging |
Het |
| Krtap6-2 |
A |
T |
16: 89,216,834 (GRCm39) |
Y44* |
probably null |
Het |
| Lrrc46 |
T |
C |
11: 96,931,757 (GRCm39) |
T22A |
probably damaging |
Het |
| Muc2 |
G |
T |
7: 141,305,883 (GRCm39) |
V230L |
probably damaging |
Het |
| Ncan |
T |
C |
8: 70,567,899 (GRCm39) |
D71G |
probably benign |
Het |
| Nsd2 |
T |
C |
5: 34,038,525 (GRCm39) |
S779P |
probably damaging |
Het |
| Rps6ka5 |
G |
T |
12: 100,537,251 (GRCm39) |
T493K |
probably damaging |
Het |
| Slc6a21 |
A |
T |
7: 44,936,426 (GRCm39) |
M135L |
probably benign |
Het |
| Sprtn |
A |
G |
8: 125,629,958 (GRCm39) |
N417S |
probably benign |
Het |
| Trim61 |
T |
A |
8: 65,466,842 (GRCm39) |
M140L |
probably benign |
Het |
| Vars1 |
C |
A |
17: 35,234,615 (GRCm39) |
A1148E |
probably benign |
Het |
| Vmn2r106 |
C |
T |
17: 20,488,725 (GRCm39) |
C558Y |
probably damaging |
Het |
| Vmn2r112 |
T |
C |
17: 22,824,230 (GRCm39) |
V495A |
probably benign |
Het |
| Vmn2r117 |
A |
T |
17: 23,679,088 (GRCm39) |
V712E |
possibly damaging |
Het |
| Wdfy4 |
T |
C |
14: 32,826,051 (GRCm39) |
D1200G |
probably damaging |
Het |
| Zbtb6 |
A |
T |
2: 37,318,690 (GRCm39) |
S413T |
probably benign |
Het |
| Zp2 |
G |
T |
7: 119,740,453 (GRCm39) |
N170K |
probably benign |
Het |
|
| Other mutations in Cyp2d26 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00559:Cyp2d26
|
APN |
15 |
82,675,244 (GRCm39) |
missense |
probably benign |
0.31 |
|
IGL00670:Cyp2d26
|
APN |
15 |
82,675,942 (GRCm39) |
missense |
probably benign |
|
|
IGL01646:Cyp2d26
|
APN |
15 |
82,675,619 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL01915:Cyp2d26
|
APN |
15 |
82,674,450 (GRCm39) |
missense |
probably benign |
0.06 |
|
IGL01940:Cyp2d26
|
APN |
15 |
82,676,758 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02127:Cyp2d26
|
APN |
15 |
82,675,307 (GRCm39) |
missense |
probably benign |
0.09 |
|
IGL02452:Cyp2d26
|
APN |
15 |
82,676,827 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL03216:Cyp2d26
|
APN |
15 |
82,677,462 (GRCm39) |
missense |
probably benign |
|
|
IGL03377:Cyp2d26
|
APN |
15 |
82,674,755 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
R0149:Cyp2d26
|
UTSW |
15 |
82,676,968 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0848:Cyp2d26
|
UTSW |
15 |
82,674,434 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1165:Cyp2d26
|
UTSW |
15 |
82,678,242 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1217:Cyp2d26
|
UTSW |
15 |
82,677,068 (GRCm39) |
splice site |
probably benign |
|
|
R1780:Cyp2d26
|
UTSW |
15 |
82,678,208 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2048:Cyp2d26
|
UTSW |
15 |
82,676,928 (GRCm39) |
utr 3 prime |
probably benign |
|
|
R2152:Cyp2d26
|
UTSW |
15 |
82,676,907 (GRCm39) |
critical splice donor site |
probably null |
|
|
R2397:Cyp2d26
|
UTSW |
15 |
82,678,236 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4702:Cyp2d26
|
UTSW |
15 |
82,676,648 (GRCm39) |
intron |
probably benign |
|
|
R5157:Cyp2d26
|
UTSW |
15 |
82,675,190 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5444:Cyp2d26
|
UTSW |
15 |
82,676,739 (GRCm39) |
missense |
probably benign |
0.18 |
|
R6017:Cyp2d26
|
UTSW |
15 |
82,674,774 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R6223:Cyp2d26
|
UTSW |
15 |
82,675,918 (GRCm39) |
missense |
probably benign |
0.04 |
|
R6473:Cyp2d26
|
UTSW |
15 |
82,675,968 (GRCm39) |
missense |
probably benign |
0.02 |
|
R6858:Cyp2d26
|
UTSW |
15 |
82,678,284 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6912:Cyp2d26
|
UTSW |
15 |
82,675,320 (GRCm39) |
missense |
probably benign |
0.16 |
|
R6936:Cyp2d26
|
UTSW |
15 |
82,676,741 (GRCm39) |
missense |
probably benign |
0.14 |
|
R6960:Cyp2d26
|
UTSW |
15 |
82,674,446 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7053:Cyp2d26
|
UTSW |
15 |
82,676,801 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7113:Cyp2d26
|
UTSW |
15 |
82,674,403 (GRCm39) |
missense |
probably benign |
0.02 |
|
R7126:Cyp2d26
|
UTSW |
15 |
82,678,209 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7272:Cyp2d26
|
UTSW |
15 |
82,676,764 (GRCm39) |
missense |
probably benign |
|
|
R7771:Cyp2d26
|
UTSW |
15 |
82,675,947 (GRCm39) |
missense |
probably benign |
|
|
R8695:Cyp2d26
|
UTSW |
15 |
82,676,907 (GRCm39) |
critical splice donor site |
probably benign |
|
|
R9466:Cyp2d26
|
UTSW |
15 |
82,674,424 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9489:Cyp2d26
|
UTSW |
15 |
82,674,672 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9605:Cyp2d26
|
UTSW |
15 |
82,674,672 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9656:Cyp2d26
|
UTSW |
15 |
82,677,059 (GRCm39) |
missense |
probably benign |
0.03 |
|
X0021:Cyp2d26
|
UTSW |
15 |
82,674,718 (GRCm39) |
missense |
probably benign |
0.04 |
|
| Predicted Primers |
PCR Primer
(F):5'- ATTTATAGCATAGAAGTGGCCAGGC -3'
(R):5'- CAGCGGCGATTTTCTGTGTC -3'
Sequencing Primer
(F):5'- AAGCCAGTGTCTTCTCCT -3'
(R):5'- GTGTCTACCCTGCGTGAC -3'
|
| Posted On |
2018-05-04 |
Incidental Mutation