Incidental Mutation 'IGL01733:Cyp2d34'
| ID |
105565 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Cyp2d34
|
| Ensembl Gene |
ENSMUSG00000094559 |
| Gene Name |
cytochrome P450, family 2, subfamily d, polypeptide 34 |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.064)
|
| Stock # |
IGL01733
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
15 |
| Chromosomal Location |
82500166-82505147 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 82502861 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Methionine
at position 122
(V122M)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000105141
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000109515]
[ENSMUST00000229833]
|
| AlphaFold |
L7N463 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000109515
AA Change: V122M
PolyPhen 2
Score 0.734 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000105141
Gene: ENSMUSG00000094559
AA Change: V122M
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
7 |
26 |
N/A |
INTRINSIC |
|
Pfam:p450
|
37 |
497 |
3.2e-141 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000229833
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000230716
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000231012
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcd2 |
C |
T |
15: 91,075,817 (GRCm39) |
|
probably benign |
Het |
| Aco1 |
T |
G |
4: 40,175,738 (GRCm39) |
|
probably benign |
Het |
| Brinp3 |
T |
C |
1: 146,390,541 (GRCm39) |
V29A |
probably benign |
Het |
| Brsk1 |
T |
C |
7: 4,709,071 (GRCm39) |
Y361H |
probably damaging |
Het |
| Ccdc178 |
G |
T |
18: 22,157,869 (GRCm39) |
|
probably benign |
Het |
| Ces1f |
A |
G |
8: 93,996,642 (GRCm39) |
I217T |
probably damaging |
Het |
| Col6a6 |
T |
A |
9: 105,586,454 (GRCm39) |
T1856S |
possibly damaging |
Het |
| Cuedc2 |
C |
A |
19: 46,321,112 (GRCm39) |
V7F |
probably damaging |
Het |
| Ddx60 |
T |
C |
8: 62,436,899 (GRCm39) |
S949P |
probably damaging |
Het |
| Dlg5 |
G |
A |
14: 24,220,517 (GRCm39) |
R554W |
probably damaging |
Het |
| Fig4 |
A |
T |
10: 41,153,389 (GRCm39) |
N137K |
possibly damaging |
Het |
| Gpr155 |
C |
T |
2: 73,183,956 (GRCm39) |
|
probably null |
Het |
| Grk6 |
A |
C |
13: 55,599,204 (GRCm39) |
N168T |
possibly damaging |
Het |
| Hfe |
T |
G |
13: 23,890,848 (GRCm39) |
K97T |
possibly damaging |
Het |
| Hsd3b2 |
C |
T |
3: 98,623,801 (GRCm39) |
E26K |
probably damaging |
Het |
| Impg1 |
A |
G |
9: 80,249,206 (GRCm39) |
S666P |
probably damaging |
Het |
| Itpkb |
T |
G |
1: 180,160,734 (GRCm39) |
S287A |
possibly damaging |
Het |
| Kcnh5 |
T |
C |
12: 75,011,966 (GRCm39) |
D651G |
probably benign |
Het |
| Lemd3 |
C |
T |
10: 120,769,568 (GRCm39) |
W588* |
probably null |
Het |
| Lepr |
A |
G |
4: 101,622,279 (GRCm39) |
T404A |
probably benign |
Het |
| Metap1d |
A |
G |
2: 71,341,777 (GRCm39) |
I124V |
probably damaging |
Het |
| Mrpl33 |
T |
C |
5: 31,779,733 (GRCm39) |
V54A |
probably benign |
Het |
| Mybl1 |
A |
T |
1: 9,755,935 (GRCm39) |
S205T |
possibly damaging |
Het |
| Mybpc2 |
T |
A |
7: 44,155,622 (GRCm39) |
D877V |
probably benign |
Het |
| Nxph2 |
T |
C |
2: 23,290,137 (GRCm39) |
V163A |
probably benign |
Het |
| Pakap |
G |
T |
4: 57,856,488 (GRCm39) |
V606L |
probably benign |
Het |
| Pex16 |
C |
T |
2: 92,209,173 (GRCm39) |
P192S |
probably damaging |
Het |
| Ptprq |
C |
A |
10: 107,498,460 (GRCm39) |
M872I |
probably benign |
Het |
| Ripor1 |
C |
T |
8: 106,342,378 (GRCm39) |
R150W |
possibly damaging |
Het |
| Spns2 |
A |
T |
11: 72,347,336 (GRCm39) |
V423E |
possibly damaging |
Het |
| St6galnac2 |
C |
T |
11: 116,575,945 (GRCm39) |
D169N |
probably damaging |
Het |
| Stoml3 |
A |
G |
3: 53,405,548 (GRCm39) |
I50V |
probably benign |
Het |
| Taar8c |
A |
G |
10: 23,977,155 (GRCm39) |
I219T |
possibly damaging |
Het |
| Ubap2 |
A |
C |
4: 41,195,862 (GRCm39) |
|
probably benign |
Het |
| Zfat |
T |
C |
15: 68,052,579 (GRCm39) |
D398G |
probably damaging |
Het |
|
| Other mutations in Cyp2d34 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00743:Cyp2d34
|
APN |
15 |
82,501,736 (GRCm39) |
missense |
probably damaging |
0.96 |
|
IGL00914:Cyp2d34
|
APN |
15 |
82,504,915 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL01347:Cyp2d34
|
APN |
15 |
82,500,978 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
IGL01354:Cyp2d34
|
APN |
15 |
82,501,823 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL01681:Cyp2d34
|
APN |
15 |
82,501,332 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL02231:Cyp2d34
|
APN |
15 |
82,502,807 (GRCm39) |
missense |
probably benign |
0.44 |
|
IGL02425:Cyp2d34
|
APN |
15 |
82,502,480 (GRCm39) |
missense |
probably benign |
|
|
IGL03219:Cyp2d34
|
APN |
15 |
82,502,740 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0684:Cyp2d34
|
UTSW |
15 |
82,501,751 (GRCm39) |
missense |
probably benign |
0.06 |
|
R0811:Cyp2d34
|
UTSW |
15 |
82,502,807 (GRCm39) |
missense |
probably benign |
0.44 |
|
R0812:Cyp2d34
|
UTSW |
15 |
82,502,807 (GRCm39) |
missense |
probably benign |
0.44 |
|
R1617:Cyp2d34
|
UTSW |
15 |
82,505,046 (GRCm39) |
missense |
probably benign |
0.21 |
|
R1756:Cyp2d34
|
UTSW |
15 |
82,501,725 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1827:Cyp2d34
|
UTSW |
15 |
82,500,295 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1962:Cyp2d34
|
UTSW |
15 |
82,502,809 (GRCm39) |
missense |
probably benign |
0.10 |
|
R2102:Cyp2d34
|
UTSW |
15 |
82,500,974 (GRCm39) |
missense |
probably benign |
0.17 |
|
R2113:Cyp2d34
|
UTSW |
15 |
82,501,817 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2432:Cyp2d34
|
UTSW |
15 |
82,503,212 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2566:Cyp2d34
|
UTSW |
15 |
82,500,368 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3154:Cyp2d34
|
UTSW |
15 |
82,501,767 (GRCm39) |
missense |
probably benign |
0.04 |
|
R3834:Cyp2d34
|
UTSW |
15 |
82,500,947 (GRCm39) |
critical splice donor site |
probably null |
|
|
R3881:Cyp2d34
|
UTSW |
15 |
82,502,818 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4022:Cyp2d34
|
UTSW |
15 |
82,502,809 (GRCm39) |
missense |
probably benign |
0.10 |
|
R4181:Cyp2d34
|
UTSW |
15 |
82,501,486 (GRCm39) |
splice site |
probably null |
|
|
R4613:Cyp2d34
|
UTSW |
15 |
82,500,526 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4636:Cyp2d34
|
UTSW |
15 |
82,504,929 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4695:Cyp2d34
|
UTSW |
15 |
82,501,092 (GRCm39) |
missense |
probably benign |
|
|
R4993:Cyp2d34
|
UTSW |
15 |
82,502,530 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5262:Cyp2d34
|
UTSW |
15 |
82,502,572 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5402:Cyp2d34
|
UTSW |
15 |
82,503,287 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5772:Cyp2d34
|
UTSW |
15 |
82,501,341 (GRCm39) |
missense |
probably null |
0.24 |
|
R5874:Cyp2d34
|
UTSW |
15 |
82,503,243 (GRCm39) |
missense |
probably benign |
0.04 |
|
R6051:Cyp2d34
|
UTSW |
15 |
82,500,971 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6057:Cyp2d34
|
UTSW |
15 |
82,500,552 (GRCm39) |
missense |
probably benign |
|
|
R6143:Cyp2d34
|
UTSW |
15 |
82,504,977 (GRCm39) |
missense |
probably benign |
0.25 |
|
R6452:Cyp2d34
|
UTSW |
15 |
82,500,290 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7296:Cyp2d34
|
UTSW |
15 |
82,501,436 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R7391:Cyp2d34
|
UTSW |
15 |
82,502,587 (GRCm39) |
missense |
probably benign |
0.14 |
|
R7398:Cyp2d34
|
UTSW |
15 |
82,500,964 (GRCm39) |
missense |
probably benign |
0.04 |
|
R7867:Cyp2d34
|
UTSW |
15 |
82,501,425 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R8022:Cyp2d34
|
UTSW |
15 |
82,500,315 (GRCm39) |
nonsense |
probably null |
|
|
R8270:Cyp2d34
|
UTSW |
15 |
82,504,988 (GRCm39) |
missense |
possibly damaging |
0.55 |
|
R8365:Cyp2d34
|
UTSW |
15 |
82,504,874 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8691:Cyp2d34
|
UTSW |
15 |
82,502,471 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8974:Cyp2d34
|
UTSW |
15 |
82,500,537 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9036:Cyp2d34
|
UTSW |
15 |
82,500,523 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9226:Cyp2d34
|
UTSW |
15 |
82,504,901 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2014-01-21 |
Incidental Mutation