Incidental Mutation 'IGL01347:Cyp2d34'
| ID |
75083 |
| 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 # |
IGL01347
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
15 |
| Chromosomal Location |
82500166-82505147 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 82500978 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Phenylalanine
at position 385
(I385F)
|
| 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: I385F
PolyPhen 2
Score 0.891 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000105141
Gene: ENSMUSG00000094559
AA Change: I385F
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
7 |
26 |
N/A |
INTRINSIC |
|
Pfam:p450
|
37 |
497 |
3.2e-141 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000184667
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000229833
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000230103
|
| 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: 55 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aoc1l2 |
A |
T |
6: 48,909,477 (GRCm39) |
Y574F |
probably benign |
Het |
| Apc |
C |
T |
18: 34,450,723 (GRCm39) |
P2506S |
probably damaging |
Het |
| Bdp1 |
T |
A |
13: 100,206,711 (GRCm39) |
K610N |
possibly damaging |
Het |
| Bri3bp |
T |
G |
5: 125,531,581 (GRCm39) |
C176G |
probably damaging |
Het |
| Carnmt1 |
A |
G |
19: 18,668,818 (GRCm39) |
I248V |
probably benign |
Het |
| Ccdc88b |
A |
G |
19: 6,822,454 (GRCm39) |
L1475P |
probably damaging |
Het |
| Cfap100 |
C |
T |
6: 90,383,103 (GRCm39) |
V511M |
possibly damaging |
Het |
| Chchd3 |
T |
C |
6: 32,780,838 (GRCm39) |
N78S |
probably benign |
Het |
| Cnnm4 |
G |
A |
1: 36,537,115 (GRCm39) |
E480K |
possibly damaging |
Het |
| D930048N14Rik |
T |
A |
11: 51,545,615 (GRCm39) |
|
probably benign |
Het |
| Dgkg |
A |
T |
16: 22,419,340 (GRCm39) |
D53E |
probably benign |
Het |
| Dlx3 |
T |
A |
11: 95,011,359 (GRCm39) |
L71H |
probably damaging |
Het |
| Egln2 |
A |
C |
7: 26,859,717 (GRCm39) |
V332G |
probably null |
Het |
| Entpd2 |
A |
G |
2: 25,288,746 (GRCm39) |
Q250R |
probably benign |
Het |
| Epyc |
A |
G |
10: 97,510,593 (GRCm39) |
D132G |
probably damaging |
Het |
| Fxr2 |
A |
G |
11: 69,543,114 (GRCm39) |
D637G |
probably benign |
Het |
| Gapvd1 |
A |
G |
2: 34,596,708 (GRCm39) |
|
probably null |
Het |
| Gbp11 |
G |
A |
5: 105,479,194 (GRCm39) |
|
probably benign |
Het |
| Gm17175 |
A |
T |
14: 51,808,307 (GRCm39) |
C162S |
probably damaging |
Het |
| Gm5499 |
C |
T |
17: 87,386,339 (GRCm39) |
|
noncoding transcript |
Het |
| Gps1 |
T |
C |
11: 120,679,086 (GRCm39) |
V378A |
probably benign |
Het |
| Grik1 |
C |
T |
16: 87,754,481 (GRCm39) |
R368Q |
probably benign |
Het |
| Gsap |
A |
G |
5: 21,431,318 (GRCm39) |
E214G |
probably benign |
Het |
| H2bc13 |
A |
G |
13: 21,900,064 (GRCm39) |
Y84H |
probably damaging |
Het |
| Jdp2 |
T |
C |
12: 85,655,020 (GRCm39) |
S28P |
probably benign |
Het |
| Kif26b |
T |
C |
1: 178,698,240 (GRCm39) |
F577S |
probably damaging |
Het |
| Kl |
G |
A |
5: 150,904,130 (GRCm39) |
G294D |
probably damaging |
Het |
| Lgsn |
T |
A |
1: 31,243,041 (GRCm39) |
D374E |
probably damaging |
Het |
| Lman1 |
T |
C |
18: 66,124,681 (GRCm39) |
I353V |
probably damaging |
Het |
| Lmna |
T |
C |
3: 88,392,270 (GRCm39) |
H374R |
probably benign |
Het |
| Lrrc57 |
A |
G |
2: 120,439,286 (GRCm39) |
S31P |
probably benign |
Het |
| Lum |
T |
A |
10: 97,404,547 (GRCm39) |
N147K |
probably damaging |
Het |
| Or6n2 |
T |
C |
1: 173,897,632 (GRCm39) |
I256T |
probably benign |
Het |
| Or7a41 |
A |
G |
10: 78,871,445 (GRCm39) |
T272A |
probably benign |
Het |
| P4ha3 |
C |
A |
7: 99,955,140 (GRCm39) |
L332I |
probably damaging |
Het |
| Pelp1 |
A |
G |
11: 70,286,505 (GRCm39) |
I541T |
probably damaging |
Het |
| Pja2 |
A |
C |
17: 64,620,023 (GRCm39) |
S2A |
probably benign |
Het |
| Rhbdl3 |
T |
C |
11: 80,244,268 (GRCm39) |
L325P |
probably damaging |
Het |
| Robo2 |
T |
C |
16: 74,149,744 (GRCm39) |
D28G |
probably damaging |
Het |
| Rpa1 |
A |
G |
11: 75,198,111 (GRCm39) |
Y470H |
probably damaging |
Het |
| Rtn3 |
T |
C |
19: 7,434,645 (GRCm39) |
N430S |
probably benign |
Het |
| Scg2 |
T |
A |
1: 79,414,538 (GRCm39) |
I62L |
probably benign |
Het |
| Scn5a |
T |
A |
9: 119,391,507 (GRCm39) |
K62* |
probably null |
Het |
| Sec23ip |
T |
C |
7: 128,364,129 (GRCm39) |
V469A |
probably benign |
Het |
| Shank1 |
A |
G |
7: 43,991,544 (GRCm39) |
T663A |
unknown |
Het |
| Slco1a7 |
A |
T |
6: 141,700,192 (GRCm39) |
Y113* |
probably null |
Het |
| Stab2 |
G |
T |
10: 86,737,567 (GRCm39) |
|
probably null |
Het |
| Tmcc3 |
T |
C |
10: 94,418,147 (GRCm39) |
L305P |
probably damaging |
Het |
| Tmem145 |
A |
G |
7: 25,014,260 (GRCm39) |
N458S |
probably damaging |
Het |
| Tpr |
G |
A |
1: 150,302,738 (GRCm39) |
R1412Q |
probably damaging |
Het |
| Wdr1 |
A |
T |
5: 38,703,058 (GRCm39) |
F173I |
possibly damaging |
Het |
| Wdr17 |
C |
T |
8: 55,104,380 (GRCm39) |
V898I |
probably benign |
Het |
| Wdr64 |
A |
T |
1: 175,547,899 (GRCm39) |
L145F |
probably benign |
Het |
| Wnt10b |
A |
G |
15: 98,674,826 (GRCm39) |
|
probably benign |
Het |
| Zfyve26 |
A |
T |
12: 79,298,957 (GRCm39) |
|
probably null |
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 |
|
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 |
|
|
IGL01733:Cyp2d34
|
APN |
15 |
82,502,861 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
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 |
2013-10-07 |
Incidental Mutation