Incidental Mutation 'R3881:Cyp2d34'
| ID |
308791 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cyp2d34
|
| Ensembl Gene |
ENSMUSG00000094559 |
| Gene Name |
cytochrome P450, family 2, subfamily d, polypeptide 34 |
| Synonyms |
|
| MMRRC Submission |
040795-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.064)
|
| Stock # |
R3881 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
15 |
| Chromosomal Location |
82500166-82505147 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 82502818 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Leucine
at position 136
(Q136L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000105141
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000109515]
[ENSMUST00000229833]
|
| AlphaFold |
L7N463 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000109515
AA Change: Q136L
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000105141
Gene: ENSMUSG00000094559
AA Change: Q136L
| 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: 99.2%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.7%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 55 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2010003K11Rik |
T |
G |
19: 4,548,417 (GRCm39) |
K44T |
possibly damaging |
Het |
| 4933402N03Rik |
T |
C |
7: 130,740,823 (GRCm39) |
E131G |
probably benign |
Het |
| Angptl4 |
G |
A |
17: 33,996,008 (GRCm39) |
P323S |
possibly damaging |
Het |
| Cep41 |
A |
G |
6: 30,658,397 (GRCm39) |
S201P |
probably damaging |
Het |
| Cep95 |
A |
G |
11: 106,697,118 (GRCm39) |
I257V |
probably damaging |
Het |
| Clca4a |
T |
C |
3: 144,663,079 (GRCm39) |
N590S |
probably benign |
Het |
| Cyfip2 |
A |
G |
11: 46,099,162 (GRCm39) |
L716P |
probably damaging |
Het |
| Def6 |
T |
C |
17: 28,439,189 (GRCm39) |
C267R |
probably damaging |
Het |
| Dgat2 |
G |
A |
7: 98,818,950 (GRCm39) |
Q69* |
probably null |
Het |
| Dlgap1 |
T |
A |
17: 71,093,810 (GRCm39) |
S710R |
probably damaging |
Het |
| Dnah10 |
T |
C |
5: 124,850,095 (GRCm39) |
I1539T |
probably benign |
Het |
| Dnah2 |
T |
A |
11: 69,342,173 (GRCm39) |
I2932F |
possibly damaging |
Het |
| Enpp2 |
A |
G |
15: 54,783,088 (GRCm39) |
S76P |
probably damaging |
Het |
| Esr2 |
T |
C |
12: 76,214,394 (GRCm39) |
D19G |
probably damaging |
Het |
| Fam13b |
A |
T |
18: 34,595,112 (GRCm39) |
|
probably null |
Het |
| Fbxw14 |
A |
T |
9: 109,100,262 (GRCm39) |
V464D |
possibly damaging |
Het |
| Fcgbpl1 |
T |
A |
7: 27,839,463 (GRCm39) |
C425* |
probably null |
Het |
| Gm21961 |
A |
G |
15: 64,886,716 (GRCm39) |
|
probably null |
Het |
| Gpd2 |
C |
T |
2: 57,228,987 (GRCm39) |
R264* |
probably null |
Het |
| Hps5 |
A |
G |
7: 46,421,420 (GRCm39) |
V648A |
possibly damaging |
Het |
| Ints4 |
A |
G |
7: 97,165,464 (GRCm39) |
T517A |
possibly damaging |
Het |
| Itpr3 |
A |
G |
17: 27,332,814 (GRCm39) |
N1860S |
probably benign |
Het |
| Itsn2 |
G |
A |
12: 4,684,546 (GRCm39) |
|
probably benign |
Het |
| Jup |
A |
G |
11: 100,269,207 (GRCm39) |
V402A |
probably benign |
Het |
| Letm2 |
C |
A |
8: 26,083,884 (GRCm39) |
E116* |
probably null |
Het |
| Ly6c1 |
T |
C |
15: 74,917,436 (GRCm39) |
T71A |
probably benign |
Het |
| Mcm3ap |
G |
A |
10: 76,342,280 (GRCm39) |
S1591N |
probably benign |
Het |
| Mier2 |
C |
T |
10: 79,384,584 (GRCm39) |
|
probably null |
Het |
| Mocs2 |
T |
A |
13: 114,955,882 (GRCm39) |
L10* |
probably null |
Het |
| Myo6 |
A |
G |
9: 80,171,538 (GRCm39) |
D513G |
probably damaging |
Het |
| Myoz2 |
T |
C |
3: 122,807,369 (GRCm39) |
Y147C |
probably damaging |
Het |
| Nin |
C |
T |
12: 70,089,315 (GRCm39) |
V1367M |
probably benign |
Het |
| Nr2f6 |
C |
T |
8: 71,828,675 (GRCm39) |
A200T |
probably damaging |
Het |
| Obscn |
C |
T |
11: 58,947,775 (GRCm39) |
C4418Y |
probably damaging |
Het |
| Or10ak9 |
A |
G |
4: 118,726,550 (GRCm39) |
M191V |
probably benign |
Het |
| Or10q12 |
T |
C |
19: 13,746,144 (GRCm39) |
V146A |
probably benign |
Het |
| Or5g26 |
T |
A |
2: 85,494,769 (GRCm39) |
H3L |
probably benign |
Het |
| Paxip1 |
C |
T |
5: 27,953,837 (GRCm39) |
R953Q |
probably damaging |
Het |
| Pcdha1 |
A |
T |
18: 37,064,454 (GRCm39) |
I373F |
possibly damaging |
Het |
| Pcdha7 |
G |
A |
18: 37,108,432 (GRCm39) |
E486K |
probably benign |
Het |
| Recql5 |
G |
A |
11: 115,784,780 (GRCm39) |
P849L |
probably benign |
Het |
| Recql5 |
G |
T |
11: 115,784,781 (GRCm39) |
P849T |
probably benign |
Het |
| Rnf180 |
A |
T |
13: 105,386,915 (GRCm39) |
M131K |
possibly damaging |
Het |
| Rplp1 |
A |
G |
9: 61,821,704 (GRCm39) |
S3P |
probably benign |
Het |
| Rpp38 |
T |
A |
2: 3,330,283 (GRCm39) |
R206S |
probably benign |
Het |
| Sdha |
G |
T |
13: 74,487,311 (GRCm39) |
P159Q |
probably damaging |
Het |
| Shank2 |
T |
C |
7: 143,959,121 (GRCm39) |
V199A |
probably benign |
Het |
| Tex11 |
C |
A |
X: 99,977,021 (GRCm39) |
A487S |
possibly damaging |
Het |
| Timm50 |
C |
A |
7: 28,010,432 (GRCm39) |
A41S |
probably benign |
Het |
| Tmbim1 |
A |
G |
1: 74,329,157 (GRCm39) |
|
probably benign |
Het |
| Tmprss11a |
C |
T |
5: 86,593,664 (GRCm39) |
V29M |
possibly damaging |
Het |
| Ttc28 |
A |
T |
5: 111,331,106 (GRCm39) |
H411L |
probably damaging |
Het |
| Ube4b |
A |
T |
4: 149,449,861 (GRCm39) |
|
probably null |
Het |
| Zdhhc22 |
T |
A |
12: 87,030,400 (GRCm39) |
M183L |
probably benign |
Het |
| Zfp106 |
A |
G |
2: 120,362,630 (GRCm39) |
S830P |
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 |
|
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- CACAGCGTTGTTCAGCATGG -3'
(R):5'- CGCTGGATTGTGGTGACAAG -3'
Sequencing Primer
(F):5'- GGGATTGATGGACTGCCC -3'
(R):5'- CAAGGATTTGAGAGGCTCATGGC -3'
|
| Posted On |
2015-04-17 |
Incidental Mutation