Incidental Mutation 'IGL02491:Cyp2d12'
| ID |
295628 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Cyp2d12
|
| Ensembl Gene |
ENSMUSG00000096852 |
| Gene Name |
cytochrome P450, family 2, subfamily d, polypeptide 12 |
| Synonyms |
9030605E09Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.108)
|
| Stock # |
IGL02491
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
15 |
| Chromosomal Location |
82439244-82443614 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 82442682 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Glutamine
at position 375
(L375Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000071064
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000068861]
[ENSMUST00000228974]
[ENSMUST00000229103]
[ENSMUST00000229904]
|
| AlphaFold |
Q8BVD2 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000068861
AA Change: L375Q
PolyPhen 2
Score 0.883 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000071064
Gene: ENSMUSG00000096852
AA Change: L375Q
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
4 |
23 |
N/A |
INTRINSIC |
|
Pfam:p450
|
37 |
497 |
3.6e-143 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000184191
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000228974
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000229062
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000229103
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000229418
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000229792
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000229904
AA Change: L324Q
PolyPhen 2
Score 0.838 (Sensitivity: 0.84; Specificity: 0.93)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000229988
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000230859
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 55 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca6 |
T |
C |
11: 110,067,794 (GRCm39) |
|
probably benign |
Het |
| Acacb |
T |
A |
5: 114,330,166 (GRCm39) |
I443N |
probably damaging |
Het |
| C1qtnf3 |
A |
T |
15: 10,972,067 (GRCm39) |
I118F |
possibly damaging |
Het |
| Carmil3 |
C |
T |
14: 55,741,974 (GRCm39) |
A1148V |
probably benign |
Het |
| Ccdc62 |
A |
T |
5: 124,099,378 (GRCm39) |
S677C |
probably damaging |
Het |
| Cdc45 |
C |
T |
16: 18,617,479 (GRCm39) |
M200I |
probably benign |
Het |
| Col11a2 |
C |
A |
17: 34,283,181 (GRCm39) |
|
probably benign |
Het |
| Cpsf7 |
A |
G |
19: 10,517,001 (GRCm39) |
I368V |
possibly damaging |
Het |
| Csmd2 |
T |
C |
4: 128,428,050 (GRCm39) |
S2934P |
probably benign |
Het |
| Csmd3 |
A |
G |
15: 47,777,511 (GRCm39) |
|
probably benign |
Het |
| Cubn |
A |
G |
2: 13,326,039 (GRCm39) |
Y2709H |
probably damaging |
Het |
| Etv4 |
A |
T |
11: 101,674,791 (GRCm39) |
|
probably null |
Het |
| Exph5 |
T |
A |
9: 53,286,343 (GRCm39) |
D1141E |
possibly damaging |
Het |
| Fbxo16 |
T |
A |
14: 65,558,736 (GRCm39) |
H298Q |
probably benign |
Het |
| Fbxw21 |
T |
A |
9: 108,972,887 (GRCm39) |
Y349F |
probably benign |
Het |
| Foxs1 |
G |
A |
2: 152,774,721 (GRCm39) |
R111C |
probably damaging |
Het |
| Galnt15 |
T |
A |
14: 31,778,273 (GRCm39) |
L436Q |
probably damaging |
Het |
| Gbf1 |
T |
C |
19: 46,250,979 (GRCm39) |
|
probably benign |
Het |
| Gm8237 |
A |
T |
14: 5,863,577 (GRCm38) |
C29* |
probably null |
Het |
| Hcn1 |
A |
G |
13: 117,946,576 (GRCm39) |
D317G |
unknown |
Het |
| Itgam |
A |
G |
7: 127,715,190 (GRCm39) |
N877D |
possibly damaging |
Het |
| Kcnma1 |
T |
C |
14: 23,361,757 (GRCm39) |
R1047G |
probably damaging |
Het |
| Klhdc3 |
T |
C |
17: 46,988,226 (GRCm39) |
R180G |
possibly damaging |
Het |
| Lpcat2 |
T |
C |
8: 93,600,879 (GRCm39) |
V241A |
probably damaging |
Het |
| Mnat1 |
A |
G |
12: 73,170,682 (GRCm39) |
N24S |
probably null |
Het |
| Mprip |
A |
G |
11: 59,660,857 (GRCm39) |
T967A |
probably benign |
Het |
| Mtf1 |
T |
C |
4: 124,732,372 (GRCm39) |
F477L |
probably benign |
Het |
| Naaladl1 |
A |
G |
19: 6,159,748 (GRCm39) |
E393G |
possibly damaging |
Het |
| Or10ak7 |
A |
T |
4: 118,791,358 (GRCm39) |
L229H |
probably damaging |
Het |
| Or2at1 |
A |
G |
7: 99,416,540 (GRCm39) |
E57G |
possibly damaging |
Het |
| Or5e1 |
A |
G |
7: 108,354,321 (GRCm39) |
K86R |
probably damaging |
Het |
| Pcdhb6 |
A |
T |
18: 37,468,735 (GRCm39) |
D552V |
probably damaging |
Het |
| Pglyrp3 |
C |
T |
3: 91,921,944 (GRCm39) |
S4F |
possibly damaging |
Het |
| Pramel13 |
A |
T |
4: 144,121,322 (GRCm39) |
M234K |
probably damaging |
Het |
| Prss27 |
A |
T |
17: 24,263,229 (GRCm39) |
|
probably benign |
Het |
| Slc5a9 |
A |
G |
4: 111,753,549 (GRCm39) |
S51P |
probably damaging |
Het |
| Slc6a4 |
A |
G |
11: 76,918,034 (GRCm39) |
Y592C |
probably damaging |
Het |
| Slc7a13 |
T |
A |
4: 19,841,404 (GRCm39) |
V417D |
probably damaging |
Het |
| Spring1 |
T |
C |
5: 118,397,160 (GRCm39) |
Y130H |
probably benign |
Het |
| Syne2 |
A |
G |
12: 76,118,953 (GRCm39) |
T5857A |
probably benign |
Het |
| Thap1 |
A |
C |
8: 26,650,885 (GRCm39) |
S52R |
probably damaging |
Het |
| Thsd4 |
T |
C |
9: 59,907,301 (GRCm39) |
N158S |
probably damaging |
Het |
| Tmem147 |
A |
T |
7: 30,427,626 (GRCm39) |
|
probably benign |
Het |
| Trdmt1 |
G |
A |
2: 13,521,483 (GRCm39) |
A311V |
probably benign |
Het |
| U2surp |
T |
A |
9: 95,372,273 (GRCm39) |
R296S |
probably damaging |
Het |
| Upf2 |
A |
G |
2: 6,030,975 (GRCm39) |
D805G |
unknown |
Het |
| Usp34 |
T |
A |
11: 23,382,630 (GRCm39) |
H2057Q |
probably damaging |
Het |
| Vmn2r110 |
T |
A |
17: 20,816,400 (GRCm39) |
D41V |
probably damaging |
Het |
| Vmn2r16 |
T |
A |
5: 109,487,703 (GRCm39) |
L192* |
probably null |
Het |
| Vnn3 |
T |
A |
10: 23,741,816 (GRCm39) |
S374T |
probably benign |
Het |
| Wdr62 |
A |
C |
7: 29,942,184 (GRCm39) |
D1089E |
probably benign |
Het |
| Xdh |
T |
A |
17: 74,193,459 (GRCm39) |
D1279V |
probably damaging |
Het |
| Zfp13 |
C |
T |
17: 23,795,072 (GRCm39) |
A493T |
probably benign |
Het |
| Zfp518b |
A |
G |
5: 38,831,123 (GRCm39) |
I294T |
possibly damaging |
Het |
| Zfp983 |
G |
A |
17: 21,876,528 (GRCm39) |
|
probably null |
Het |
|
| Other mutations in Cyp2d12 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01959:Cyp2d12
|
APN |
15 |
82,439,545 (GRCm39) |
splice site |
probably benign |
|
|
IGL02318:Cyp2d12
|
APN |
15 |
82,439,444 (GRCm39) |
missense |
probably benign |
0.33 |
|
IGL02353:Cyp2d12
|
APN |
15 |
82,443,171 (GRCm39) |
missense |
probably benign |
0.02 |
|
IGL02360:Cyp2d12
|
APN |
15 |
82,443,171 (GRCm39) |
missense |
probably benign |
0.02 |
|
IGL02651:Cyp2d12
|
APN |
15 |
82,440,941 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02664:Cyp2d12
|
APN |
15 |
82,443,535 (GRCm39) |
missense |
probably benign |
|
|
IGL03169:Cyp2d12
|
APN |
15 |
82,443,492 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL03354:Cyp2d12
|
APN |
15 |
82,443,162 (GRCm39) |
missense |
probably damaging |
1.00 |
|
PIT4581001:Cyp2d12
|
UTSW |
15 |
82,442,652 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0426:Cyp2d12
|
UTSW |
15 |
82,443,164 (GRCm39) |
missense |
probably benign |
0.12 |
|
R0578:Cyp2d12
|
UTSW |
15 |
82,440,584 (GRCm39) |
splice site |
probably benign |
|
|
R1297:Cyp2d12
|
UTSW |
15 |
82,441,887 (GRCm39) |
missense |
probably benign |
0.31 |
|
R1517:Cyp2d12
|
UTSW |
15 |
82,442,337 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1718:Cyp2d12
|
UTSW |
15 |
82,442,251 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1829:Cyp2d12
|
UTSW |
15 |
82,442,257 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R2208:Cyp2d12
|
UTSW |
15 |
82,441,137 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2366:Cyp2d12
|
UTSW |
15 |
82,439,355 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2385:Cyp2d12
|
UTSW |
15 |
82,442,696 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2504:Cyp2d12
|
UTSW |
15 |
82,443,237 (GRCm39) |
missense |
probably benign |
0.06 |
|
R4009:Cyp2d12
|
UTSW |
15 |
82,440,493 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4940:Cyp2d12
|
UTSW |
15 |
82,442,251 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5237:Cyp2d12
|
UTSW |
15 |
82,442,207 (GRCm39) |
splice site |
probably null |
|
|
R5327:Cyp2d12
|
UTSW |
15 |
82,439,423 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5549:Cyp2d12
|
UTSW |
15 |
82,440,498 (GRCm39) |
missense |
probably benign |
0.23 |
|
R6128:Cyp2d12
|
UTSW |
15 |
82,443,166 (GRCm39) |
missense |
probably benign |
|
|
R6275:Cyp2d12
|
UTSW |
15 |
82,440,859 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6723:Cyp2d12
|
UTSW |
15 |
82,441,085 (GRCm39) |
missense |
probably benign |
|
|
R6808:Cyp2d12
|
UTSW |
15 |
82,440,934 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6947:Cyp2d12
|
UTSW |
15 |
82,443,248 (GRCm39) |
missense |
probably benign |
|
|
R7137:Cyp2d12
|
UTSW |
15 |
82,442,022 (GRCm39) |
missense |
probably benign |
0.42 |
|
R7224:Cyp2d12
|
UTSW |
15 |
82,441,849 (GRCm39) |
splice site |
probably null |
|
|
R7513:Cyp2d12
|
UTSW |
15 |
82,442,621 (GRCm39) |
missense |
probably benign |
|
|
R7698:Cyp2d12
|
UTSW |
15 |
82,443,171 (GRCm39) |
missense |
probably benign |
0.02 |
|
R7753:Cyp2d12
|
UTSW |
15 |
82,441,164 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R8465:Cyp2d12
|
UTSW |
15 |
82,439,378 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R8965:Cyp2d12
|
UTSW |
15 |
82,443,186 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R9031:Cyp2d12
|
UTSW |
15 |
82,443,423 (GRCm39) |
missense |
probably null |
0.02 |
|
R9286:Cyp2d12
|
UTSW |
15 |
82,443,403 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9296:Cyp2d12
|
UTSW |
15 |
82,440,435 (GRCm39) |
nonsense |
probably null |
|
|
X0065:Cyp2d12
|
UTSW |
15 |
82,442,029 (GRCm39) |
missense |
probably benign |
0.04 |
|
| Posted On |
2015-04-16 |
Incidental Mutation