Incidental Mutation 'R4032:Alkbh2'
| ID |
313528 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Alkbh2
|
| Ensembl Gene |
ENSMUSG00000044339 |
| Gene Name |
alkB homolog 2, alpha-ketoglutarate-dependent dioxygenase |
| Synonyms |
Abh2, mABH2 |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4032 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
5 |
| Chromosomal Location |
114261987-114266279 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 114262287 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Lysine
at position 148
(E148K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000107898
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031588]
[ENSMUST00000053657]
[ENSMUST00000112279]
[ENSMUST00000149418]
[ENSMUST00000200119]
|
| AlphaFold |
Q6P6J4 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000031588
|
| SMART Domains |
Protein: ENSMUSP00000031588
Gene: ENSMUSG00000029592
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
6 |
16 |
N/A |
INTRINSIC |
|
transmembrane domain
|
35 |
57 |
N/A |
INTRINSIC |
|
Pfam:UCH
|
67 |
499 |
2.6e-44 |
PFAM |
|
Pfam:UCH_1
|
68 |
481 |
8.8e-14 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000053657
AA Change: E148K
PolyPhen 2
Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000056043
Gene: ENSMUSG00000044339
AA Change: E148K
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
15 |
28 |
N/A |
INTRINSIC |
|
Pfam:2OG-FeII_Oxy_2
|
47 |
232 |
1.9e-30 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000112279
AA Change: E148K
PolyPhen 2
Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000107898
Gene: ENSMUSG00000044339
AA Change: E148K
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
15 |
28 |
N/A |
INTRINSIC |
|
Pfam:2OG-FeII_Oxy_2
|
47 |
232 |
5.4e-32 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000149418
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000200119
|
| SMART Domains |
Protein: ENSMUSP00000142350
Gene: ENSMUSG00000029592
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
6 |
16 |
N/A |
INTRINSIC |
|
transmembrane domain
|
35 |
57 |
N/A |
INTRINSIC |
|
Pfam:UCH
|
67 |
368 |
2.9e-31 |
PFAM |
|
Pfam:UCH_1
|
68 |
376 |
1e-14 |
PFAM |
|
| Meta Mutation Damage Score |
0.2232 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.8%
- 20x: 93.3%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The Escherichia coli AlkB protein protects against the cytotoxicity of methylating agents by repair of the specific DNA lesions generated in single-stranded DNA. ALKBH2 and ALKBH3 (MIM 610603) are E. coli AlkB homologs that catalyze the removal of 1-methyladenine and 3-methylcytosine (Duncan et al., 2002 [PubMed 12486230]).[supplied by OMIM, Mar 2008]
PHENOTYPE: Homozygous null mice are viable and overtly normal but show progressive accumulation of 1-methyladenine (1meA) in their genomic DNA due to impaired DNA repair. Mutant MEFs fail to remove methyl methane sulfate (MMS)-induced 1meA from genomic DNA and showincreased cytotoxicity after MMS exposure. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Arhgap17 |
G |
T |
7: 122,879,289 (GRCm39) |
|
probably benign |
Het |
| Atp13a4 |
T |
A |
16: 29,237,389 (GRCm39) |
M846L |
probably damaging |
Het |
| Capn5 |
G |
T |
7: 97,778,453 (GRCm39) |
Q389K |
probably damaging |
Het |
| Cdkl3 |
T |
A |
11: 51,902,118 (GRCm39) |
I109N |
probably damaging |
Het |
| Cry2 |
T |
C |
2: 92,244,172 (GRCm39) |
I334V |
probably benign |
Het |
| Cs |
T |
C |
10: 128,196,913 (GRCm39) |
L436P |
probably damaging |
Het |
| D17H6S53E |
T |
C |
17: 35,346,355 (GRCm39) |
S89P |
probably benign |
Het |
| Dync1h1 |
C |
T |
12: 110,584,483 (GRCm39) |
Q629* |
probably null |
Het |
| H4c12 |
T |
C |
13: 21,934,588 (GRCm39) |
I30V |
possibly damaging |
Het |
| Itpka |
C |
T |
2: 119,573,082 (GRCm39) |
P75S |
probably benign |
Het |
| Lyst |
C |
T |
13: 13,791,250 (GRCm39) |
H38Y |
probably damaging |
Het |
| Mansc4 |
T |
C |
6: 146,976,678 (GRCm39) |
K313E |
probably benign |
Het |
| Megf6 |
T |
A |
4: 154,261,550 (GRCm39) |
C58* |
probably null |
Het |
| Mtor |
T |
C |
4: 148,621,209 (GRCm39) |
V1869A |
probably benign |
Het |
| Mybpc1 |
T |
C |
10: 88,365,426 (GRCm39) |
D899G |
probably benign |
Het |
| Nek10 |
C |
A |
14: 14,853,877 (GRCm38) |
|
probably null |
Het |
| Nfkb1 |
T |
C |
3: 135,300,110 (GRCm39) |
S657G |
possibly damaging |
Het |
| Or10d5j |
T |
C |
9: 39,867,629 (GRCm39) |
T213A |
probably benign |
Het |
| Or2a25 |
A |
T |
6: 42,888,559 (GRCm39) |
Y34F |
probably benign |
Het |
| Or4m1 |
T |
A |
14: 50,557,767 (GRCm39) |
D175V |
possibly damaging |
Het |
| Or4n5 |
G |
T |
14: 50,132,433 (GRCm39) |
H275Q |
probably benign |
Het |
| Or51f23 |
A |
G |
7: 102,453,396 (GRCm39) |
K237R |
probably benign |
Het |
| Pabir1 |
C |
T |
19: 24,454,106 (GRCm39) |
M205I |
probably benign |
Het |
| Pde1b |
A |
G |
15: 103,429,753 (GRCm39) |
D82G |
probably damaging |
Het |
| Pdzrn4 |
C |
T |
15: 92,667,414 (GRCm39) |
T522M |
probably damaging |
Het |
| Ptpro |
C |
A |
6: 137,438,740 (GRCm39) |
N373K |
probably damaging |
Het |
| Ptprs |
T |
C |
17: 56,720,386 (GRCm39) |
Y1478C |
probably damaging |
Het |
| Sdc2 |
A |
T |
15: 33,017,323 (GRCm39) |
I46F |
probably damaging |
Het |
| Sergef |
C |
A |
7: 46,092,726 (GRCm39) |
E428* |
probably null |
Het |
| Stk36 |
A |
G |
1: 74,665,207 (GRCm39) |
S651G |
probably benign |
Het |
| Ubr5 |
A |
G |
15: 38,025,081 (GRCm39) |
V559A |
|
Het |
| Ugt8a |
C |
A |
3: 125,667,807 (GRCm39) |
D345Y |
probably damaging |
Het |
| Usp44 |
A |
G |
10: 93,683,127 (GRCm39) |
|
probably benign |
Het |
| Vps13a |
A |
T |
19: 16,594,263 (GRCm39) |
L3156Q |
probably damaging |
Het |
| Zfp655 |
A |
G |
5: 145,180,858 (GRCm39) |
T239A |
possibly damaging |
Het |
| Zfp87 |
T |
C |
13: 74,520,449 (GRCm39) |
T210A |
possibly damaging |
Het |
|
| Other mutations in Alkbh2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02298:Alkbh2
|
APN |
5 |
114,263,633 (GRCm39) |
missense |
probably benign |
|
|
R0326:Alkbh2
|
UTSW |
5 |
114,262,011 (GRCm39) |
makesense |
probably null |
|
|
R0480:Alkbh2
|
UTSW |
5 |
114,263,596 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0962:Alkbh2
|
UTSW |
5 |
114,262,014 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R1214:Alkbh2
|
UTSW |
5 |
114,262,287 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1215:Alkbh2
|
UTSW |
5 |
114,262,287 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1280:Alkbh2
|
UTSW |
5 |
114,262,287 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1282:Alkbh2
|
UTSW |
5 |
114,262,287 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1309:Alkbh2
|
UTSW |
5 |
114,262,287 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1340:Alkbh2
|
UTSW |
5 |
114,262,287 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1371:Alkbh2
|
UTSW |
5 |
114,262,287 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1443:Alkbh2
|
UTSW |
5 |
114,262,287 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1445:Alkbh2
|
UTSW |
5 |
114,262,287 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1545:Alkbh2
|
UTSW |
5 |
114,262,287 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1546:Alkbh2
|
UTSW |
5 |
114,262,287 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1629:Alkbh2
|
UTSW |
5 |
114,262,287 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1631:Alkbh2
|
UTSW |
5 |
114,262,287 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1632:Alkbh2
|
UTSW |
5 |
114,262,287 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1707:Alkbh2
|
UTSW |
5 |
114,262,287 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1769:Alkbh2
|
UTSW |
5 |
114,262,287 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1920:Alkbh2
|
UTSW |
5 |
114,262,287 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1921:Alkbh2
|
UTSW |
5 |
114,262,287 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1922:Alkbh2
|
UTSW |
5 |
114,262,287 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1984:Alkbh2
|
UTSW |
5 |
114,262,115 (GRCm39) |
missense |
probably benign |
0.12 |
|
R2140:Alkbh2
|
UTSW |
5 |
114,263,777 (GRCm39) |
missense |
probably benign |
0.03 |
|
R2142:Alkbh2
|
UTSW |
5 |
114,263,777 (GRCm39) |
missense |
probably benign |
0.03 |
|
R3800:Alkbh2
|
UTSW |
5 |
114,262,287 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R3981:Alkbh2
|
UTSW |
5 |
114,262,287 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4062:Alkbh2
|
UTSW |
5 |
114,262,287 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4064:Alkbh2
|
UTSW |
5 |
114,262,287 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4163:Alkbh2
|
UTSW |
5 |
114,265,613 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4569:Alkbh2
|
UTSW |
5 |
114,262,287 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4570:Alkbh2
|
UTSW |
5 |
114,262,287 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4624:Alkbh2
|
UTSW |
5 |
114,262,287 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4625:Alkbh2
|
UTSW |
5 |
114,262,287 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4626:Alkbh2
|
UTSW |
5 |
114,262,287 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4627:Alkbh2
|
UTSW |
5 |
114,262,287 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4628:Alkbh2
|
UTSW |
5 |
114,262,287 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4630:Alkbh2
|
UTSW |
5 |
114,262,287 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4632:Alkbh2
|
UTSW |
5 |
114,262,287 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4633:Alkbh2
|
UTSW |
5 |
114,262,287 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4801:Alkbh2
|
UTSW |
5 |
114,262,287 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4802:Alkbh2
|
UTSW |
5 |
114,262,287 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4803:Alkbh2
|
UTSW |
5 |
114,262,287 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9519:Alkbh2
|
UTSW |
5 |
114,265,794 (GRCm39) |
missense |
probably benign |
0.01 |
|
| Predicted Primers |
PCR Primer
(F):5'- ATCATCAGCAGGCTTCCGTG -3'
(R):5'- GGCCTGCAGGTATTGTAAGAAG -3'
Sequencing Primer
(F):5'- AGGCTTCCGTGTGCCAG -3'
(R):5'- CCCAAATAGTTCTACTAGCTGGGG -3'
|
| Posted On |
2015-04-30 |
Incidental Mutation