Incidental Mutation 'R6473:Cyp2d26'
ID |
520364 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Cyp2d26
|
Ensembl Gene |
ENSMUSG00000022445 |
Gene Name |
cytochrome P450, family 2, subfamily d, polypeptide 26 |
Synonyms |
1300006E06Rik |
MMRRC Submission |
044606-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.124)
|
Stock # |
R6473 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
15 |
Chromosomal Location |
82674302-82678495 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 82675968 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Serine
at position 248
(N248S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000006094
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000006094]
[ENSMUST00000229387]
[ENSMUST00000229512]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably benign
Transcript: ENSMUST00000006094
AA Change: N248S
PolyPhen 2
Score 0.024 (Sensitivity: 0.95; Specificity: 0.81)
|
SMART Domains |
Protein: ENSMUSP00000006094 Gene: ENSMUSG00000022445 AA Change: N248S
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 |
0.0898 |
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.4%
- 10x: 96.9%
- 20x: 89.9%
|
Validation Efficiency |
95% (36/38) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 36 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adamts1 |
T |
C |
16: 85,596,531 (GRCm39) |
D106G |
probably damaging |
Het |
Adat3 |
A |
G |
10: 80,442,801 (GRCm39) |
D213G |
probably damaging |
Het |
Akt1 |
T |
C |
12: 112,628,694 (GRCm39) |
D32G |
probably damaging |
Het |
Ampd1 |
C |
T |
3: 103,002,962 (GRCm39) |
R61* |
probably null |
Het |
Ash2l |
T |
A |
8: 26,325,008 (GRCm39) |
T184S |
probably damaging |
Het |
B3galnt1 |
T |
C |
3: 69,482,673 (GRCm39) |
N196S |
possibly damaging |
Het |
Chmp2b |
C |
T |
16: 65,343,758 (GRCm39) |
G96S |
probably damaging |
Het |
Cyp46a1 |
G |
T |
12: 108,321,734 (GRCm39) |
R320L |
possibly damaging |
Het |
Dact1 |
A |
G |
12: 71,364,472 (GRCm39) |
T418A |
probably benign |
Het |
Ddx3y |
T |
C |
Y: 1,265,971 (GRCm39) |
Y342C |
possibly damaging |
Homo |
Dnm3 |
T |
A |
1: 162,305,274 (GRCm39) |
Q40L |
probably damaging |
Het |
Eif2s1 |
T |
C |
12: 78,927,999 (GRCm39) |
I225T |
probably damaging |
Het |
Enpp5 |
G |
A |
17: 44,396,155 (GRCm39) |
G356S |
probably damaging |
Het |
Eps8 |
A |
T |
6: 137,456,096 (GRCm39) |
I795N |
probably damaging |
Het |
Fan1 |
T |
A |
7: 64,022,234 (GRCm39) |
N340Y |
probably damaging |
Het |
Fbxw7 |
T |
C |
3: 84,859,687 (GRCm39) |
|
probably benign |
Het |
Gba1 |
C |
T |
3: 89,111,388 (GRCm39) |
P51L |
probably benign |
Het |
Idh3b |
AG |
AGCACCACAACTG |
2: 130,121,593 (GRCm39) |
|
probably null |
Het |
Kalrn |
A |
G |
16: 34,025,672 (GRCm39) |
I551T |
probably damaging |
Het |
Madd |
T |
C |
2: 90,997,404 (GRCm39) |
T755A |
probably benign |
Het |
Mrps31 |
A |
G |
8: 22,904,881 (GRCm39) |
D90G |
probably benign |
Het |
Or14j4 |
T |
A |
17: 37,920,887 (GRCm39) |
T252S |
possibly damaging |
Het |
Or5h23 |
A |
T |
16: 58,906,406 (GRCm39) |
L147M |
probably benign |
Het |
P2ry12 |
T |
A |
3: 59,124,932 (GRCm39) |
I248F |
probably benign |
Het |
Ptgfrn |
T |
C |
3: 100,952,955 (GRCm39) |
R760G |
probably damaging |
Het |
Rsf1 |
CG |
CGACGGCGGGG |
7: 97,229,115 (GRCm39) |
|
probably benign |
Homo |
Slpi |
T |
C |
2: 164,196,846 (GRCm39) |
Y116C |
probably damaging |
Het |
St3gal1 |
A |
G |
15: 66,983,195 (GRCm39) |
V187A |
possibly damaging |
Het |
Terb1 |
T |
A |
8: 105,199,669 (GRCm39) |
E425V |
probably damaging |
Het |
Thbs2 |
A |
G |
17: 14,906,058 (GRCm39) |
S281P |
probably benign |
Het |
Tnik |
A |
G |
3: 28,317,792 (GRCm39) |
M1V |
probably null |
Het |
Usp16 |
G |
A |
16: 87,280,023 (GRCm39) |
S741N |
probably benign |
Het |
Usp48 |
T |
C |
4: 137,336,419 (GRCm39) |
|
probably null |
Het |
Vipr1 |
T |
C |
9: 121,497,621 (GRCm39) |
S380P |
probably damaging |
Het |
Vmn1r21 |
A |
T |
6: 57,820,583 (GRCm39) |
I287K |
probably damaging |
Het |
Zfp157 |
T |
C |
5: 138,454,188 (GRCm39) |
C129R |
probably damaging |
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 |
R6390:Cyp2d26
|
UTSW |
15 |
82,676,825 (GRCm39) |
missense |
possibly damaging |
0.68 |
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'- GAGTCACTTGGTGATGCACAGG -3'
(R):5'- CATGAGTCACTATATACAGGCAAGC -3'
Sequencing Primer
(F):5'- ACTTGGTGATGCACAGGACTCTAC -3'
(R):5'- CTATATACAGGCAAGCACATGTG -3'
|
Posted On |
2018-06-06 |