Incidental Mutation 'R1165:Cyp2d26'
ID |
100971 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Cyp2d26
|
Ensembl Gene |
ENSMUSG00000022445 |
Gene Name |
cytochrome P450, family 2, subfamily d, polypeptide 26 |
Synonyms |
1300006E06Rik |
MMRRC Submission |
039238-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.124)
|
Stock # |
R1165 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
15 |
Chromosomal Location |
82674302-82678495 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to A
at 82678242 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glycine to Tryptophan
at position 45
(G45W)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000155717
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000006094]
[ENSMUST00000229387]
[ENSMUST00000229512]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000006094
AA Change: G45W
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000006094 Gene: ENSMUSG00000022445 AA Change: G45W
Domain | Start | End | E-Value | Type |
transmembrane domain
|
10 |
27 |
N/A |
INTRINSIC |
Pfam:p450
|
37 |
497 |
3.5e-141 |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000229387
AA Change: G45W
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000229512
AA Change: G45W
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000230125
|
Meta Mutation Damage Score |
0.6467 |
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.2%
- 10x: 96.0%
- 20x: 91.4%
|
Validation Efficiency |
98% (50/51) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 51 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2210408I21Rik |
T |
G |
13: 77,482,406 (GRCm39) |
C1209G |
probably benign |
Het |
Abcg2 |
C |
A |
6: 58,655,285 (GRCm39) |
L407I |
probably benign |
Het |
Adtrp |
A |
G |
13: 41,967,779 (GRCm39) |
V56A |
probably damaging |
Het |
Angptl6 |
T |
G |
9: 20,789,604 (GRCm39) |
N96T |
probably benign |
Het |
Ank3 |
C |
A |
10: 69,734,132 (GRCm39) |
N780K |
possibly damaging |
Het |
AU040320 |
A |
T |
4: 126,717,433 (GRCm39) |
|
probably benign |
Het |
Best2 |
C |
T |
8: 85,737,789 (GRCm39) |
R202H |
probably benign |
Het |
Bod1l |
A |
T |
5: 41,978,396 (GRCm39) |
S973T |
probably benign |
Het |
Brca2 |
T |
A |
5: 150,466,212 (GRCm39) |
V1992E |
probably damaging |
Het |
Casp8ap2 |
C |
T |
4: 32,640,563 (GRCm39) |
P539L |
probably benign |
Het |
Ccr1 |
A |
T |
9: 123,763,531 (GRCm39) |
V333E |
possibly damaging |
Het |
Celf5 |
A |
T |
10: 81,307,172 (GRCm39) |
V83E |
probably damaging |
Het |
Col15a1 |
T |
C |
4: 47,257,275 (GRCm39) |
|
probably benign |
Het |
Coro1b |
C |
A |
19: 4,199,901 (GRCm39) |
H81N |
probably damaging |
Het |
Cwc22 |
A |
T |
2: 77,734,242 (GRCm39) |
S686T |
probably damaging |
Het |
Dysf |
T |
A |
6: 84,044,051 (GRCm39) |
N297K |
probably damaging |
Het |
Edem1 |
T |
A |
6: 108,828,214 (GRCm39) |
L513Q |
probably damaging |
Het |
Erich1 |
G |
A |
8: 14,140,530 (GRCm39) |
|
probably benign |
Het |
Fam91a1 |
T |
C |
15: 58,302,518 (GRCm39) |
V286A |
possibly damaging |
Het |
Fdxr |
C |
A |
11: 115,162,608 (GRCm39) |
|
probably benign |
Het |
Gas7 |
T |
C |
11: 67,561,512 (GRCm39) |
|
probably benign |
Het |
Glb1l2 |
T |
C |
9: 26,705,397 (GRCm39) |
D151G |
probably damaging |
Het |
Gm14410 |
A |
C |
2: 176,885,282 (GRCm39) |
Y327* |
probably null |
Het |
Grep1 |
A |
C |
17: 23,929,489 (GRCm39) |
|
probably benign |
Het |
H6pd |
A |
G |
4: 150,080,413 (GRCm39) |
I136T |
possibly damaging |
Het |
Hectd1 |
A |
T |
12: 51,810,947 (GRCm39) |
|
probably benign |
Het |
Hipk1 |
T |
C |
3: 103,668,840 (GRCm39) |
T519A |
possibly damaging |
Het |
Hpd |
A |
G |
5: 123,314,153 (GRCm39) |
|
probably null |
Het |
Insyn2b |
A |
G |
11: 34,352,740 (GRCm39) |
T261A |
probably benign |
Het |
Or6c76 |
A |
G |
10: 129,612,302 (GRCm39) |
D188G |
probably damaging |
Het |
Or7c19 |
T |
A |
8: 85,957,400 (GRCm39) |
I92N |
probably damaging |
Het |
Pcdha11 |
A |
G |
18: 37,140,757 (GRCm39) |
|
probably benign |
Het |
Pdgfrb |
T |
C |
18: 61,197,074 (GRCm39) |
I170T |
probably benign |
Het |
Rasgrp1 |
A |
T |
2: 117,115,420 (GRCm39) |
F723I |
possibly damaging |
Het |
Retnlg |
A |
G |
16: 48,694,017 (GRCm39) |
T58A |
possibly damaging |
Het |
Rrs1 |
G |
A |
1: 9,615,992 (GRCm39) |
E82K |
probably damaging |
Het |
Rtel1 |
A |
G |
2: 180,976,732 (GRCm39) |
K243E |
probably benign |
Het |
Slc19a2 |
G |
A |
1: 164,091,014 (GRCm39) |
G274D |
probably damaging |
Het |
Slc22a27 |
T |
C |
19: 7,887,059 (GRCm39) |
|
probably null |
Het |
Slc6a1 |
T |
C |
6: 114,288,790 (GRCm39) |
F266L |
probably damaging |
Het |
Snx25 |
T |
G |
8: 46,488,752 (GRCm39) |
I868L |
probably damaging |
Het |
Spag16 |
A |
G |
1: 70,036,036 (GRCm39) |
I355V |
probably benign |
Het |
Tmem198 |
A |
T |
1: 75,456,576 (GRCm39) |
|
probably benign |
Het |
Traf3ip3 |
A |
C |
1: 192,866,786 (GRCm39) |
S349A |
probably damaging |
Het |
Trim17 |
A |
G |
11: 58,862,041 (GRCm39) |
N358D |
possibly damaging |
Het |
Trmu |
A |
G |
15: 85,776,875 (GRCm39) |
T196A |
probably damaging |
Het |
Tsen2 |
A |
G |
6: 115,538,396 (GRCm39) |
Y291C |
probably damaging |
Het |
Vps13d |
A |
G |
4: 144,853,041 (GRCm39) |
F2358L |
probably benign |
Het |
Wnt2 |
T |
C |
6: 17,989,946 (GRCm39) |
H317R |
probably benign |
Het |
Zfp120 |
A |
T |
2: 149,961,849 (GRCm39) |
V33E |
probably damaging |
Het |
Zfp407 |
C |
T |
18: 84,577,898 (GRCm39) |
A1072T |
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 |
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 |
R6390:Cyp2d26
|
UTSW |
15 |
82,676,825 (GRCm39) |
missense |
possibly damaging |
0.68 |
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 |
|
Posted On |
2014-01-15 |