Incidental Mutation 'R5402:Cyp2d34'
ID |
430074 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Cyp2d34
|
Ensembl Gene |
ENSMUSG00000094559 |
Gene Name |
cytochrome P450, family 2, subfamily d, polypeptide 34 |
Synonyms |
|
MMRRC Submission |
042973-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.064)
|
Stock # |
R5402 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
15 |
Chromosomal Location |
82500166-82505147 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 82503287 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glycine to Aspartic acid
at position 69
(G69D)
|
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: G69D
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000105141 Gene: ENSMUSG00000094559 AA Change: G69D
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 |
- 1x: 99.4%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.7%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 49 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adgrv1 |
A |
T |
13: 81,607,834 (GRCm39) |
D4079E |
probably benign |
Het |
Bcar1 |
T |
C |
8: 112,440,962 (GRCm39) |
D344G |
probably damaging |
Het |
Car9 |
A |
G |
4: 43,510,213 (GRCm39) |
N265S |
probably damaging |
Het |
Ccr7 |
A |
G |
11: 99,036,560 (GRCm39) |
S121P |
possibly damaging |
Het |
Cgnl1 |
A |
G |
9: 71,536,603 (GRCm39) |
L1278P |
probably damaging |
Het |
Chst9 |
A |
T |
18: 15,585,872 (GRCm39) |
S230R |
probably damaging |
Het |
Cped1 |
G |
A |
6: 22,143,951 (GRCm39) |
V566M |
probably benign |
Het |
Csf2 |
A |
T |
11: 54,138,489 (GRCm39) |
Y117* |
probably null |
Het |
Cwf19l1 |
C |
T |
19: 44,121,524 (GRCm39) |
|
probably null |
Het |
Dync2h1 |
A |
T |
9: 7,114,949 (GRCm39) |
V170E |
probably damaging |
Het |
Ehbp1l1 |
T |
A |
19: 5,766,348 (GRCm39) |
T388S |
possibly damaging |
Het |
Etfa |
T |
C |
9: 55,362,023 (GRCm39) |
I329M |
probably benign |
Het |
Flt4 |
AC |
ACC |
11: 49,541,861 (GRCm39) |
|
probably null |
Het |
Fmnl2 |
G |
A |
2: 53,018,794 (GRCm39) |
V1078I |
probably damaging |
Het |
Fnip2 |
A |
G |
3: 79,388,250 (GRCm39) |
L797P |
possibly damaging |
Het |
Gmeb2 |
A |
T |
2: 180,897,750 (GRCm39) |
|
probably null |
Het |
Greb1l |
A |
G |
18: 10,537,169 (GRCm39) |
T1045A |
probably benign |
Het |
Hapln1 |
A |
G |
13: 89,753,530 (GRCm39) |
N232S |
probably benign |
Het |
Hibadh |
A |
T |
6: 52,523,965 (GRCm39) |
M311K |
probably benign |
Het |
Hus1 |
C |
T |
11: 8,960,240 (GRCm39) |
|
probably null |
Het |
Il31ra |
T |
C |
13: 112,660,669 (GRCm39) |
E640G |
probably benign |
Het |
L3mbtl4 |
T |
C |
17: 68,762,769 (GRCm39) |
F101L |
probably damaging |
Het |
Lbr |
A |
T |
1: 181,647,526 (GRCm39) |
M417K |
probably benign |
Het |
Lrig3 |
T |
G |
10: 125,844,609 (GRCm39) |
L691R |
probably damaging |
Het |
Mcm3ap |
T |
A |
10: 76,319,148 (GRCm39) |
F792Y |
probably benign |
Het |
Mst1 |
T |
C |
9: 107,961,408 (GRCm39) |
|
probably null |
Het |
Nova2 |
C |
A |
7: 18,692,371 (GRCm39) |
T500K |
probably damaging |
Het |
Nxph4 |
A |
T |
10: 127,362,133 (GRCm39) |
C253S |
probably damaging |
Het |
Or2t1 |
T |
C |
14: 14,328,878 (GRCm38) |
Y256H |
probably damaging |
Het |
Or4s2b |
T |
A |
2: 88,508,492 (GRCm39) |
S98T |
possibly damaging |
Het |
Pcdhga3 |
G |
A |
18: 37,808,747 (GRCm39) |
R400Q |
probably benign |
Het |
Pidd1 |
C |
A |
7: 141,018,507 (GRCm39) |
A915S |
probably damaging |
Het |
Plat |
T |
G |
8: 23,262,738 (GRCm39) |
W148G |
probably damaging |
Het |
Polr3a |
T |
C |
14: 24,505,009 (GRCm39) |
I1084V |
possibly damaging |
Het |
Pramel27 |
G |
A |
4: 143,578,225 (GRCm39) |
|
probably null |
Het |
Ptdss1 |
A |
G |
13: 67,081,663 (GRCm39) |
D31G |
possibly damaging |
Het |
Rnd2 |
C |
T |
11: 101,359,825 (GRCm39) |
L57F |
probably damaging |
Het |
Samd8 |
A |
G |
14: 21,825,236 (GRCm39) |
D64G |
probably damaging |
Het |
Scgb1b20 |
A |
G |
7: 33,072,656 (GRCm39) |
|
probably null |
Het |
Sh3bp5 |
C |
A |
14: 31,099,452 (GRCm39) |
R265L |
probably benign |
Het |
Slc25a23 |
T |
C |
17: 57,360,336 (GRCm39) |
I269V |
probably benign |
Het |
Slc35f4 |
A |
T |
14: 49,556,331 (GRCm39) |
S141T |
probably damaging |
Het |
Srgap1 |
T |
C |
10: 121,621,665 (GRCm39) |
M966V |
probably benign |
Het |
Syne2 |
T |
A |
12: 76,106,213 (GRCm39) |
V5526E |
probably damaging |
Het |
Tcaf3 |
A |
G |
6: 42,568,860 (GRCm39) |
S596P |
probably benign |
Het |
Tg |
T |
A |
15: 66,611,017 (GRCm39) |
I356N |
probably damaging |
Het |
Ttc6 |
C |
T |
12: 57,783,817 (GRCm39) |
R1759* |
probably null |
Het |
Wdsub1 |
T |
C |
2: 59,700,822 (GRCm39) |
N138D |
probably benign |
Het |
Zfp1001 |
A |
G |
2: 150,204,886 (GRCm39) |
I67V |
probably benign |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- CCACACAGCTCTTTACCTTGGG -3'
(R):5'- GACCTACTTGAGATCCAGTTCTGAC -3'
Sequencing Primer
(F):5'- GGGATTTGCTCTTAAAACCTAGG -3'
(R):5'- CTGACTTCCTTTGGTAATGAACAGC -3'
|
Posted On |
2016-09-06 |