Incidental Mutation 'R4064:Alkbh2'
| ID |
316007 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Alkbh2
|
| Ensembl Gene |
ENSMUSG00000044339 |
| Gene Name |
alkB homolog 2, alpha-ketoglutarate-dependent dioxygenase |
| Synonyms |
Abh2, mABH2 |
| MMRRC Submission |
041620-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4064 (G1)
|
| Quality Score |
206 |
|
Status
|
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: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.6%
|
| Validation Efficiency |
100% (44/44) |
| 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: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc2 |
T |
G |
19: 43,793,432 (GRCm39) |
Y361* |
probably null |
Het |
| Afmid |
A |
G |
11: 117,727,354 (GRCm39) |
T293A |
probably benign |
Het |
| Ago4 |
A |
T |
4: 126,409,655 (GRCm39) |
|
probably benign |
Het |
| Axl |
C |
A |
7: 25,463,445 (GRCm39) |
V602L |
probably benign |
Het |
| Cdc5l |
C |
T |
17: 45,721,816 (GRCm39) |
A485T |
probably benign |
Het |
| Duoxa2 |
G |
T |
2: 122,131,058 (GRCm39) |
S73I |
probably damaging |
Het |
| Espl1 |
A |
G |
15: 102,221,424 (GRCm39) |
I944V |
probably damaging |
Het |
| Etfdh |
T |
C |
3: 79,513,098 (GRCm39) |
E435G |
possibly damaging |
Het |
| Fbxo15 |
C |
T |
18: 84,977,243 (GRCm39) |
R52C |
probably damaging |
Het |
| Fosb |
G |
T |
7: 19,039,117 (GRCm39) |
C186* |
probably null |
Het |
| Gtpbp2 |
G |
A |
17: 46,478,253 (GRCm39) |
R467H |
probably damaging |
Het |
| Hnrnpll |
T |
C |
17: 80,340,201 (GRCm39) |
H526R |
probably benign |
Het |
| Mphosph9 |
A |
T |
5: 124,428,980 (GRCm39) |
F683I |
probably damaging |
Het |
| Mrps24 |
G |
A |
11: 5,654,676 (GRCm39) |
R93* |
probably null |
Het |
| Nhlh2 |
A |
G |
3: 101,920,052 (GRCm39) |
D28G |
probably benign |
Het |
| Or1e16 |
A |
T |
11: 73,286,348 (GRCm39) |
S167T |
probably benign |
Het |
| Or5w17 |
A |
G |
2: 87,584,133 (GRCm39) |
F68S |
probably damaging |
Het |
| Otogl |
A |
T |
10: 107,626,510 (GRCm39) |
D1451E |
probably benign |
Het |
| Otop2 |
G |
A |
11: 115,220,201 (GRCm39) |
G347D |
probably damaging |
Het |
| Parp4 |
A |
G |
14: 56,861,597 (GRCm39) |
S977G |
probably benign |
Het |
| Psmb7 |
T |
C |
2: 38,530,188 (GRCm39) |
T98A |
probably damaging |
Het |
| Pus10 |
A |
G |
11: 23,678,983 (GRCm39) |
K485R |
probably damaging |
Het |
| Rab11fip3 |
T |
C |
17: 26,243,368 (GRCm39) |
D588G |
probably damaging |
Het |
| Rgl2 |
T |
A |
17: 34,156,082 (GRCm39) |
D723E |
possibly damaging |
Het |
| Rp1 |
A |
T |
1: 4,415,623 (GRCm39) |
S1830T |
probably benign |
Het |
| Rreb1 |
T |
C |
13: 38,114,293 (GRCm39) |
S551P |
probably benign |
Het |
| Serpinb7 |
A |
T |
1: 107,373,766 (GRCm39) |
E127D |
probably benign |
Het |
| Sh3pxd2b |
G |
T |
11: 32,372,263 (GRCm39) |
A477S |
probably benign |
Het |
| Slc26a9 |
T |
C |
1: 131,690,925 (GRCm39) |
Y568H |
probably benign |
Het |
| Tars3 |
G |
A |
7: 65,302,018 (GRCm39) |
A181T |
possibly damaging |
Het |
| Tbc1d2b |
T |
A |
9: 90,100,975 (GRCm39) |
K672* |
probably null |
Het |
| Tmem59l |
T |
C |
8: 70,938,369 (GRCm39) |
T168A |
probably damaging |
Het |
| Tshz2 |
A |
G |
2: 169,804,245 (GRCm39) |
|
probably benign |
Het |
| Vmn1r9 |
T |
C |
6: 57,048,306 (GRCm39) |
F127S |
probably damaging |
Het |
| Zfp282 |
G |
A |
6: 47,857,028 (GRCm39) |
R87H |
probably damaging |
Het |
| Zfp292 |
A |
G |
4: 34,810,863 (GRCm39) |
V727A |
probably damaging |
Het |
| Zscan22 |
C |
T |
7: 12,640,941 (GRCm39) |
T395I |
probably 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 |
|
R4032: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 |
|
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'- GCCTGCAGGTATTGTAAGAAGC -3'
Sequencing Primer
(F):5'- AGGCTTCCGTGTGCCAG -3'
(R):5'- CCCAAATAGTTCTACTAGCTGGGG -3'
|
| Posted On |
2015-05-15 |
Incidental Mutation