Incidental Mutation 'R6051:Cyp2d34'
ID |
484114 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Cyp2d34
|
Ensembl Gene |
ENSMUSG00000094559 |
Gene Name |
cytochrome P450, family 2, subfamily d, polypeptide 34 |
Synonyms |
|
MMRRC Submission |
044219-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.064)
|
Stock # |
R6051 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
15 |
Chromosomal Location |
82500166-82505147 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 82500971 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Aspartic acid
at position 387
(V387D)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000105141
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000109515]
[ENSMUST00000229833]
|
AlphaFold |
L7N463 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000109515
AA Change: V387D
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000105141 Gene: ENSMUSG00000094559 AA Change: V387D
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 |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.1%
- 20x: 94.3%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 56 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2700049A03Rik |
G |
T |
12: 71,231,304 (GRCm39) |
A1021S |
possibly damaging |
Het |
Abl2 |
A |
G |
1: 156,469,655 (GRCm39) |
D869G |
probably damaging |
Het |
Adamts9 |
G |
A |
6: 92,836,907 (GRCm39) |
A615V |
possibly damaging |
Het |
Adamts9 |
A |
G |
6: 92,867,099 (GRCm39) |
Y96H |
probably damaging |
Het |
Arhgef37 |
A |
G |
18: 61,640,345 (GRCm39) |
I238T |
probably damaging |
Het |
Atr |
T |
A |
9: 95,790,422 (GRCm39) |
H1587Q |
possibly damaging |
Het |
BB014433 |
T |
C |
8: 15,092,179 (GRCm39) |
T225A |
possibly damaging |
Het |
Bcas2 |
T |
C |
3: 103,081,657 (GRCm39) |
Y87H |
possibly damaging |
Het |
Brca1 |
C |
T |
11: 101,415,072 (GRCm39) |
E160K |
probably damaging |
Het |
Cd2ap |
T |
C |
17: 43,107,219 (GRCm39) |
*638W |
probably null |
Het |
Chd2 |
A |
T |
7: 73,085,590 (GRCm39) |
D1681E |
probably benign |
Het |
Cit |
C |
T |
5: 115,984,464 (GRCm39) |
P12L |
probably benign |
Het |
Cracdl |
G |
T |
1: 37,663,306 (GRCm39) |
P864Q |
probably damaging |
Het |
Crisp1 |
T |
C |
17: 40,616,017 (GRCm39) |
Y120C |
possibly damaging |
Het |
Cyp2c65 |
A |
G |
19: 39,049,610 (GRCm39) |
D46G |
probably benign |
Het |
E130311K13Rik |
T |
C |
3: 63,823,062 (GRCm39) |
H194R |
probably benign |
Het |
Egfr |
C |
A |
11: 16,833,607 (GRCm39) |
T625N |
possibly damaging |
Het |
Fat3 |
A |
G |
9: 16,286,751 (GRCm39) |
V924A |
possibly damaging |
Het |
Fgd6 |
T |
C |
10: 93,973,427 (GRCm39) |
|
probably null |
Het |
Galnt6 |
A |
T |
15: 100,592,549 (GRCm39) |
C553S |
probably damaging |
Het |
Gm5617 |
T |
C |
9: 48,407,187 (GRCm39) |
L107P |
possibly damaging |
Het |
Hectd1 |
G |
T |
12: 51,800,887 (GRCm39) |
T2035N |
probably benign |
Het |
Hp1bp3 |
A |
G |
4: 137,961,615 (GRCm39) |
T154A |
possibly damaging |
Het |
Il10rb |
A |
G |
16: 91,218,752 (GRCm39) |
T262A |
probably benign |
Het |
Kansl1l |
A |
T |
1: 66,765,885 (GRCm39) |
N704K |
probably null |
Het |
Kbtbd12 |
T |
C |
6: 88,594,930 (GRCm39) |
D300G |
possibly damaging |
Het |
Lama4 |
G |
A |
10: 38,943,898 (GRCm39) |
A734T |
probably benign |
Het |
Mllt6 |
G |
T |
11: 97,571,569 (GRCm39) |
G1069* |
probably null |
Het |
Mns1 |
T |
C |
9: 72,356,735 (GRCm39) |
L302P |
probably damaging |
Het |
Muc5ac |
T |
A |
7: 141,365,594 (GRCm39) |
C2039S |
possibly damaging |
Het |
Myof |
A |
G |
19: 38,012,809 (GRCm39) |
L42P |
probably damaging |
Het |
Ncoa3 |
T |
C |
2: 165,900,685 (GRCm39) |
L868S |
probably damaging |
Het |
Ndc80 |
C |
T |
17: 71,824,573 (GRCm39) |
G212E |
probably benign |
Het |
Ntn4 |
A |
G |
10: 93,581,657 (GRCm39) |
H610R |
probably benign |
Het |
Nufip2 |
T |
A |
11: 77,582,742 (GRCm39) |
Y219N |
probably damaging |
Het |
Or51m1 |
T |
C |
7: 103,578,084 (GRCm39) |
F18S |
probably damaging |
Het |
Pbxip1 |
T |
C |
3: 89,350,477 (GRCm39) |
S41P |
probably benign |
Het |
Phactr2 |
A |
T |
10: 13,137,555 (GRCm39) |
C196S |
probably null |
Het |
Ppp3ca |
T |
A |
3: 136,581,883 (GRCm39) |
Y140N |
probably damaging |
Het |
Ptprb |
C |
A |
10: 116,176,995 (GRCm39) |
Y1260* |
probably null |
Het |
Rap1a |
C |
T |
3: 105,657,613 (GRCm39) |
R2H |
possibly damaging |
Het |
Rbbp8 |
G |
A |
18: 11,871,664 (GRCm39) |
V794I |
probably benign |
Het |
Rbks |
T |
C |
5: 31,809,163 (GRCm39) |
N200S |
probably damaging |
Het |
Relch |
G |
T |
1: 105,648,997 (GRCm39) |
G712V |
probably damaging |
Het |
Rnf186 |
G |
T |
4: 138,695,277 (GRCm39) |
K272N |
probably damaging |
Het |
Rtl1 |
G |
A |
12: 109,559,458 (GRCm39) |
P794S |
probably damaging |
Het |
Tbc1d30 |
T |
A |
10: 121,132,750 (GRCm39) |
I205F |
probably damaging |
Het |
Tkt |
C |
T |
14: 30,290,153 (GRCm39) |
P261S |
probably benign |
Het |
Trp53 |
G |
A |
11: 69,480,434 (GRCm39) |
R267H |
possibly damaging |
Het |
Ttc14 |
T |
C |
3: 33,863,073 (GRCm39) |
|
probably benign |
Het |
Ttn |
A |
G |
2: 76,737,805 (GRCm39) |
S4245P |
probably benign |
Het |
Vmn1r75 |
A |
T |
7: 11,614,978 (GRCm39) |
I237F |
probably damaging |
Het |
Vmn2r57 |
T |
A |
7: 41,097,896 (GRCm39) |
H57L |
probably benign |
Het |
Wdr62 |
T |
C |
7: 29,960,809 (GRCm39) |
N40S |
possibly damaging |
Het |
Xcr1 |
A |
T |
9: 123,685,181 (GRCm39) |
F194I |
probably benign |
Het |
Zmiz1 |
T |
A |
14: 25,572,494 (GRCm39) |
M1K |
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 |
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 |
|
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- AACCATCCCTGTGTTCAATGC -3'
(R):5'- TGTCACGCTAGGTAGAGTTCAAC -3'
Sequencing Primer
(F):5'- GTGTTCAATGCTCCATAAAGTGTCC -3'
(R):5'- TTCAACAGGAAATCGATGCAGTC -3'
|
Posted On |
2017-07-14 |