Incidental Mutation 'IGL01714:Cyp2d40'
| ID |
104879 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Cyp2d40
|
| Ensembl Gene |
ENSMUSG00000068083 |
| Gene Name |
cytochrome P450, family 2, subfamily d, polypeptide 40 |
| Synonyms |
1300013D18Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.095)
|
| Stock # |
IGL01714
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
15 |
| Chromosomal Location |
82644034-82648323 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to G
at 82645441 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Alanine
at position 142
(D142A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000060524
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000055721]
|
| AlphaFold |
Q6P8N9 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000055721
AA Change: D142A
PolyPhen 2
Score 0.553 (Sensitivity: 0.88; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000060524
Gene: ENSMUSG00000068083
AA Change: D142A
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
4 |
26 |
N/A |
INTRINSIC |
|
Pfam:p450
|
59 |
335 |
1.3e-94 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000230433
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 33 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700030K09Rik |
T |
C |
8: 73,209,413 (GRCm39) |
|
probably null |
Het |
| Acvrl1 |
T |
A |
15: 101,035,251 (GRCm39) |
I259N |
probably damaging |
Het |
| Ahctf1 |
A |
G |
1: 179,623,442 (GRCm39) |
S59P |
probably damaging |
Het |
| Bcas1 |
T |
C |
2: 170,226,102 (GRCm39) |
|
probably benign |
Het |
| Ccdc33 |
T |
C |
9: 57,937,153 (GRCm39) |
N682S |
possibly damaging |
Het |
| Celf1 |
T |
C |
2: 90,839,552 (GRCm39) |
S326P |
possibly damaging |
Het |
| Cntn1 |
T |
A |
15: 92,151,870 (GRCm39) |
C436* |
probably null |
Het |
| Dennd2b |
A |
G |
7: 109,169,269 (GRCm39) |
S9P |
probably damaging |
Het |
| Dnhd1 |
C |
T |
7: 105,370,149 (GRCm39) |
L4525F |
probably damaging |
Het |
| Drosha |
A |
G |
15: 12,878,870 (GRCm39) |
Y732C |
probably damaging |
Het |
| Edn1 |
A |
G |
13: 42,458,490 (GRCm39) |
N101S |
probably benign |
Het |
| Faxc |
C |
T |
4: 21,936,688 (GRCm39) |
P108S |
probably damaging |
Het |
| Glb1l2 |
C |
T |
9: 26,679,714 (GRCm39) |
|
probably null |
Het |
| Gm4952 |
G |
T |
19: 12,602,075 (GRCm39) |
R161L |
probably benign |
Het |
| Hipk2 |
A |
T |
6: 38,796,117 (GRCm39) |
Y51N |
probably damaging |
Het |
| Id4 |
T |
G |
13: 48,415,266 (GRCm39) |
I98S |
probably damaging |
Het |
| Klf6 |
T |
C |
13: 5,916,658 (GRCm39) |
S268P |
probably benign |
Het |
| Kmt2c |
G |
T |
5: 25,518,398 (GRCm39) |
T2427N |
probably benign |
Het |
| Lrp3 |
T |
G |
7: 34,905,496 (GRCm39) |
|
probably null |
Het |
| Lrrc66 |
A |
G |
5: 73,787,320 (GRCm39) |
I10T |
probably benign |
Het |
| Mapkap1 |
T |
G |
2: 34,408,855 (GRCm39) |
V281G |
probably damaging |
Het |
| Ncor1 |
T |
A |
11: 62,225,410 (GRCm39) |
I1054F |
possibly damaging |
Het |
| Or8k25 |
T |
C |
2: 86,244,144 (GRCm39) |
N84S |
probably benign |
Het |
| Ppp1r9b |
C |
A |
11: 94,896,180 (GRCm39) |
T817N |
probably damaging |
Het |
| Prkd2 |
T |
A |
7: 16,597,867 (GRCm39) |
I659N |
probably damaging |
Het |
| Radil |
T |
C |
5: 142,529,152 (GRCm39) |
|
probably benign |
Het |
| S2bpcox16 |
A |
G |
12: 81,557,664 (GRCm39) |
I47T |
probably damaging |
Het |
| Smarcd1 |
C |
T |
15: 99,610,302 (GRCm39) |
T474I |
probably damaging |
Het |
| Srd5a1 |
C |
T |
13: 69,759,181 (GRCm39) |
W62* |
probably null |
Het |
| St6galnac2 |
C |
T |
11: 116,575,945 (GRCm39) |
D169N |
probably damaging |
Het |
| Ttn |
T |
A |
2: 76,687,523 (GRCm39) |
|
probably benign |
Het |
| Vmn1r77 |
A |
T |
7: 11,775,277 (GRCm39) |
I18F |
probably benign |
Het |
| Xrcc5 |
A |
T |
1: 72,369,143 (GRCm39) |
K332N |
probably damaging |
Het |
|
| Other mutations in Cyp2d40 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01134:Cyp2d40
|
APN |
15 |
82,645,102 (GRCm39) |
missense |
unknown |
|
|
IGL01313:Cyp2d40
|
APN |
15 |
82,645,478 (GRCm39) |
missense |
unknown |
|
|
IGL02324:Cyp2d40
|
APN |
15 |
82,645,149 (GRCm39) |
splice site |
probably benign |
|
|
IGL02993:Cyp2d40
|
APN |
15 |
82,645,722 (GRCm39) |
missense |
probably benign |
0.19 |
|
IGL03162:Cyp2d40
|
APN |
15 |
82,644,243 (GRCm39) |
missense |
unknown |
|
|
R0070:Cyp2d40
|
UTSW |
15 |
82,644,975 (GRCm39) |
missense |
unknown |
|
|
R0499:Cyp2d40
|
UTSW |
15 |
82,645,418 (GRCm39) |
missense |
probably benign |
0.11 |
|
R0885:Cyp2d40
|
UTSW |
15 |
82,645,116 (GRCm39) |
missense |
unknown |
|
|
R1587:Cyp2d40
|
UTSW |
15 |
82,645,334 (GRCm39) |
splice site |
probably null |
|
|
R1613:Cyp2d40
|
UTSW |
15 |
82,645,640 (GRCm39) |
missense |
unknown |
|
|
R4773:Cyp2d40
|
UTSW |
15 |
82,645,763 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R5047:Cyp2d40
|
UTSW |
15 |
82,644,460 (GRCm39) |
missense |
unknown |
|
|
R5604:Cyp2d40
|
UTSW |
15 |
82,648,256 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6087:Cyp2d40
|
UTSW |
15 |
82,648,205 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R6334:Cyp2d40
|
UTSW |
15 |
82,645,753 (GRCm39) |
missense |
probably benign |
0.03 |
|
R6841:Cyp2d40
|
UTSW |
15 |
82,645,687 (GRCm39) |
missense |
probably benign |
0.03 |
|
R7017:Cyp2d40
|
UTSW |
15 |
82,644,234 (GRCm39) |
missense |
unknown |
|
|
R7045:Cyp2d40
|
UTSW |
15 |
82,645,763 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7565:Cyp2d40
|
UTSW |
15 |
82,644,975 (GRCm39) |
missense |
unknown |
|
|
R7934:Cyp2d40
|
UTSW |
15 |
82,648,212 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8896:Cyp2d40
|
UTSW |
15 |
82,644,454 (GRCm39) |
missense |
unknown |
|
|
R9378:Cyp2d40
|
UTSW |
15 |
82,645,802 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R9522:Cyp2d40
|
UTSW |
15 |
82,648,274 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R9558:Cyp2d40
|
UTSW |
15 |
82,645,667 (GRCm39) |
missense |
unknown |
|
|
| Posted On |
2014-01-21 |
Incidental Mutation