Incidental Mutation 'R1214:Alkbh2'
| ID | 99515 |
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| Institutional Source |
Beutler Lab
|
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| Gene Symbol |
Alkbh2
|
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| Ensembl Gene |
ENSMUSG00000044339 |
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| Gene Name | alkB homolog 2, alpha-ketoglutarate-dependent dioxygenase |
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| Synonyms | Abh2, mABH2 |
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| MMRRC Submission |
039283-MU
|
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| Accession Numbers | |
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| Is this an essential gene? |
Non essential (E-score: 0.000)
|
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| Stock # | R1214 (G1)
|
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| Quality Score | 225 |
|---|
| Status |
Not validated
|
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| Chromosome | 5 |
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| Chromosomal Location | 114123926-114128218 bp(-) (GRCm38) |
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| Type of Mutation | missense |
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| DNA Base Change (assembly) |
C to T
at 114124226 bp
|
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| Zygosity | Heterozygous |
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| Amino Acid Change |
Glutamic Acid to Lysine
at position 148
(E148K)
|
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| Ref Sequence |
ENSEMBL: ENSMUSP00000107898
(fasta)
|
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| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031588]
[ENSMUST00000053657]
[ENSMUST00000112279]
[ENSMUST00000149418]
[ENSMUST00000200119]
|
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| Predicted Effect |
probably benign
Transcript: ENSMUST00000031588
|
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| 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 |
|
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| Predicted Effect |
probably damaging
Transcript: ENSMUST00000053657
AA Change: E148K
PolyPhen 2
Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
|
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| 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 |
|
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| 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 |
|
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| Predicted Effect |
probably benign
Transcript: ENSMUST00000149418
|
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| Predicted Effect |
probably benign
Transcript: ENSMUST00000200119
|
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| 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 |
|
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| Meta Mutation Damage Score |
0.2232
|
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| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.2%
- 10x: 96.1%
- 20x: 92.0%
|
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| Validation Efficiency |
|
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| 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]
|
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| Allele List at MGI | |
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| Other mutations in this stock |
Total: 13 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Dcdc2c |
A |
T |
12: 28,530,430 |
Y201* |
probably null |
Het |
| Dock9 |
C |
T |
14: 121,586,316 |
V1395I |
probably benign |
Het |
| Dync1h1 |
G |
A |
12: 110,636,509 |
E2195K |
probably benign |
Het |
| Micall2 |
T |
C |
5: 139,711,641 |
S652G |
probably damaging |
Het |
| Olfr1289 |
T |
C |
2: 111,483,892 |
F154S |
probably damaging |
Het |
| Olfr1368 |
C |
T |
13: 21,142,167 |
V297I |
probably benign |
Het |
| Olfr341 |
G |
T |
2: 36,479,969 |
H54N |
possibly damaging |
Het |
| Ptpre |
A |
T |
7: 135,679,258 |
S643C |
probably damaging |
Het |
| Slc26a5 |
T |
A |
5: 21,814,983 |
I530F |
probably damaging |
Het |
| Slfn5 |
A |
G |
11: 82,960,091 |
M405V |
probably benign |
Het |
| Ttc29 |
A |
G |
8: 78,325,582 |
Y364C |
probably damaging |
Het |
| Wasf3 |
G |
A |
5: 146,470,288 |
V473M |
probably damaging |
Het |
| Zcchc6 |
A |
G |
13: 59,805,326 |
V100A |
possibly damaging |
Het |
|
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| Other mutations in Alkbh2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02298:Alkbh2
|
APN |
5 |
114125572 |
missense |
probably benign |
|
|
R0326:Alkbh2
|
UTSW |
5 |
114123950 |
makesense |
probably null |
|
|
R0480:Alkbh2
|
UTSW |
5 |
114125535 |
missense |
probably damaging |
1.00 |
|
R0962:Alkbh2
|
UTSW |
5 |
114123953 |
missense |
possibly damaging |
0.94 |
|
R1215:Alkbh2
|
UTSW |
5 |
114124226 |
missense |
probably damaging |
0.98 |
|
R1280:Alkbh2
|
UTSW |
5 |
114124226 |
missense |
probably damaging |
0.98 |
|
R1282:Alkbh2
|
UTSW |
5 |
114124226 |
missense |
probably damaging |
0.98 |
|
R1309:Alkbh2
|
UTSW |
5 |
114124226 |
missense |
probably damaging |
0.98 |
|
R1340:Alkbh2
|
UTSW |
5 |
114124226 |
missense |
probably damaging |
0.98 |
|
R1371:Alkbh2
|
UTSW |
5 |
114124226 |
missense |
probably damaging |
0.98 |
|
R1443:Alkbh2
|
UTSW |
5 |
114124226 |
missense |
probably damaging |
0.98 |
|
R1445:Alkbh2
|
UTSW |
5 |
114124226 |
missense |
probably damaging |
0.98 |
|
R1545:Alkbh2
|
UTSW |
5 |
114124226 |
missense |
probably damaging |
0.98 |
|
R1546:Alkbh2
|
UTSW |
5 |
114124226 |
missense |
probably damaging |
0.98 |
|
R1629:Alkbh2
|
UTSW |
5 |
114124226 |
missense |
probably damaging |
0.98 |
|
R1631:Alkbh2
|
UTSW |
5 |
114124226 |
missense |
probably damaging |
0.98 |
|
R1632:Alkbh2
|
UTSW |
5 |
114124226 |
missense |
probably damaging |
0.98 |
|
R1707:Alkbh2
|
UTSW |
5 |
114124226 |
missense |
probably damaging |
0.98 |
|
R1769:Alkbh2
|
UTSW |
5 |
114124226 |
missense |
probably damaging |
0.98 |
|
R1920:Alkbh2
|
UTSW |
5 |
114124226 |
missense |
probably damaging |
0.98 |
|
R1921:Alkbh2
|
UTSW |
5 |
114124226 |
missense |
probably damaging |
0.98 |
|
R1922:Alkbh2
|
UTSW |
5 |
114124226 |
missense |
probably damaging |
0.98 |
|
R1984:Alkbh2
|
UTSW |
5 |
114124054 |
missense |
probably benign |
0.12 |
|
R2140:Alkbh2
|
UTSW |
5 |
114125716 |
missense |
probably benign |
0.03 |
|
R2142:Alkbh2
|
UTSW |
5 |
114125716 |
missense |
probably benign |
0.03 |
|
R3800:Alkbh2
|
UTSW |
5 |
114124226 |
missense |
probably damaging |
0.98 |
|
R3981:Alkbh2
|
UTSW |
5 |
114124226 |
missense |
probably damaging |
0.98 |
|
R4032:Alkbh2
|
UTSW |
5 |
114124226 |
missense |
probably damaging |
0.98 |
|
R4062:Alkbh2
|
UTSW |
5 |
114124226 |
missense |
probably damaging |
0.98 |
|
R4064:Alkbh2
|
UTSW |
5 |
114124226 |
missense |
probably damaging |
0.98 |
|
R4163:Alkbh2
|
UTSW |
5 |
114127552 |
missense |
probably damaging |
1.00 |
|
R4569:Alkbh2
|
UTSW |
5 |
114124226 |
missense |
probably damaging |
0.98 |
|
R4570:Alkbh2
|
UTSW |
5 |
114124226 |
missense |
probably damaging |
0.98 |
|
R4624:Alkbh2
|
UTSW |
5 |
114124226 |
missense |
probably damaging |
0.98 |
|
R4625:Alkbh2
|
UTSW |
5 |
114124226 |
missense |
probably damaging |
0.98 |
|
R4626:Alkbh2
|
UTSW |
5 |
114124226 |
missense |
probably damaging |
0.98 |
|
R4627:Alkbh2
|
UTSW |
5 |
114124226 |
missense |
probably damaging |
0.98 |
|
R4628:Alkbh2
|
UTSW |
5 |
114124226 |
missense |
probably damaging |
0.98 |
|
R4630:Alkbh2
|
UTSW |
5 |
114124226 |
missense |
probably damaging |
0.98 |
|
R4632:Alkbh2
|
UTSW |
5 |
114124226 |
missense |
probably damaging |
0.98 |
|
R4633:Alkbh2
|
UTSW |
5 |
114124226 |
missense |
probably damaging |
0.98 |
|
R4801:Alkbh2
|
UTSW |
5 |
114124226 |
missense |
probably damaging |
0.98 |
|
R4802:Alkbh2
|
UTSW |
5 |
114124226 |
missense |
probably damaging |
0.98 |
|
R4803:Alkbh2
|
UTSW |
5 |
114124226 |
missense |
probably damaging |
0.98 |
|
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| Predicted Primers |
PCR Primer
(F):5'- TCATCATCAGCAGGCTTCCGTG -3'
(R):5'- GACAGGCTTTCGGGCTGTGAAC -3'
Sequencing Primer
(F):5'- AGGCTTCCGTGTGCCAG -3'
(R):5'- acacagacagacagacagac -3'
|
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| Posted On | 2014-01-15 |
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