Incidental Mutation 'R1632:Alkbh2'
ID |
172842 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Alkbh2
|
Ensembl Gene |
ENSMUSG00000044339 |
Gene Name |
alkB homolog 2, alpha-ketoglutarate-dependent dioxygenase |
Synonyms |
Abh2, mABH2 |
MMRRC Submission |
039669-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R1632 (G1)
|
Quality Score |
194 |
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: 98.2%
- 10x: 95.8%
- 20x: 90.9%
|
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: 49 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Arhgap28 |
A |
T |
17: 68,156,069 (GRCm39) |
Y696N |
probably damaging |
Het |
Cachd1 |
A |
G |
4: 100,824,169 (GRCm39) |
T537A |
probably benign |
Het |
Capn15 |
A |
T |
17: 26,179,639 (GRCm39) |
F841Y |
probably damaging |
Het |
Card10 |
G |
A |
15: 78,675,420 (GRCm39) |
R396* |
probably null |
Het |
Chd9 |
A |
T |
8: 91,683,335 (GRCm39) |
K592* |
probably null |
Het |
Cyp2j8 |
T |
A |
4: 96,335,561 (GRCm39) |
H411L |
probably benign |
Het |
Dhcr24 |
G |
T |
4: 106,443,148 (GRCm39) |
M394I |
probably benign |
Het |
Dhrs3 |
T |
C |
4: 144,620,116 (GRCm39) |
V11A |
probably benign |
Het |
Dync1li2 |
A |
T |
8: 105,164,123 (GRCm39) |
I134N |
probably damaging |
Het |
Enpp4 |
G |
T |
17: 44,410,544 (GRCm39) |
S344Y |
probably damaging |
Het |
Ephb3 |
T |
C |
16: 21,031,687 (GRCm39) |
S14P |
probably benign |
Het |
Fancm |
T |
G |
12: 65,177,105 (GRCm39) |
I1983S |
probably damaging |
Het |
Fndc1 |
T |
C |
17: 7,992,032 (GRCm39) |
T555A |
unknown |
Het |
Gemin4 |
A |
T |
11: 76,101,815 (GRCm39) |
M982K |
probably benign |
Het |
Gtpbp2 |
A |
G |
17: 46,479,518 (GRCm39) |
R590G |
probably benign |
Het |
H2-M3 |
G |
A |
17: 37,582,054 (GRCm39) |
R170H |
probably benign |
Het |
Hoxa13 |
G |
T |
6: 52,236,917 (GRCm39) |
N278K |
probably damaging |
Het |
Hspb3 |
A |
G |
13: 113,799,589 (GRCm39) |
V147A |
probably benign |
Het |
Il6st |
G |
T |
13: 112,640,866 (GRCm39) |
D820Y |
possibly damaging |
Het |
Kdm7a |
A |
G |
6: 39,129,832 (GRCm39) |
V448A |
probably benign |
Het |
Kmt2b |
T |
C |
7: 30,283,387 (GRCm39) |
D991G |
probably damaging |
Het |
Kri1 |
T |
C |
9: 21,193,507 (GRCm39) |
D140G |
possibly damaging |
Het |
Limk2 |
A |
G |
11: 3,296,250 (GRCm39) |
L399P |
probably damaging |
Het |
Lrrc9 |
T |
A |
12: 72,506,794 (GRCm39) |
|
probably null |
Het |
Map2 |
C |
T |
1: 66,454,245 (GRCm39) |
T1045M |
possibly damaging |
Het |
Map4k5 |
T |
C |
12: 69,874,821 (GRCm39) |
I321V |
probably benign |
Het |
Minar1 |
T |
A |
9: 89,484,413 (GRCm39) |
H328L |
probably damaging |
Het |
Mslnl |
G |
A |
17: 25,961,908 (GRCm39) |
V128M |
probably damaging |
Het |
Myh7b |
A |
G |
2: 155,462,445 (GRCm39) |
S383G |
probably benign |
Het |
Nhsl3 |
A |
G |
4: 129,116,459 (GRCm39) |
M735T |
possibly damaging |
Het |
Nostrin |
A |
G |
2: 69,006,078 (GRCm39) |
K254R |
probably benign |
Het |
Nphp1 |
G |
T |
2: 127,612,312 (GRCm39) |
P212T |
probably benign |
Het |
Or5ak20 |
A |
T |
2: 85,183,586 (GRCm39) |
M228K |
possibly damaging |
Het |
Pals1 |
T |
A |
12: 78,843,812 (GRCm39) |
Y5* |
probably null |
Het |
Pclo |
A |
C |
5: 14,730,017 (GRCm39) |
|
probably benign |
Het |
Phf19 |
G |
A |
2: 34,801,631 (GRCm39) |
R60W |
probably damaging |
Het |
Pou2af2 |
T |
C |
9: 51,201,702 (GRCm39) |
D118G |
probably damaging |
Het |
Psg18 |
G |
A |
7: 18,084,824 (GRCm39) |
P91S |
probably benign |
Het |
Rttn |
C |
T |
18: 89,027,460 (GRCm39) |
T525I |
probably benign |
Het |
Ryr1 |
T |
C |
7: 28,793,686 (GRCm39) |
M1268V |
probably benign |
Het |
Slc25a2 |
T |
C |
18: 37,770,740 (GRCm39) |
E263G |
possibly damaging |
Het |
Slc32a1 |
C |
T |
2: 158,455,810 (GRCm39) |
A155V |
possibly damaging |
Het |
Slc6a19 |
A |
T |
13: 73,838,027 (GRCm39) |
|
probably null |
Het |
Socs4 |
A |
G |
14: 47,527,034 (GRCm39) |
|
probably benign |
Het |
Tas2r118 |
A |
G |
6: 23,969,260 (GRCm39) |
I267T |
probably benign |
Het |
Tpte |
G |
A |
8: 22,839,363 (GRCm39) |
C470Y |
probably damaging |
Het |
Usp17la |
A |
T |
7: 104,510,118 (GRCm39) |
H241L |
probably benign |
Het |
Vmn2r72 |
T |
A |
7: 85,401,000 (GRCm39) |
I140F |
probably benign |
Het |
Zfp329 |
T |
C |
7: 12,544,876 (GRCm39) |
D216G |
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 |
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 |
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'- TCATCATCAGCAGGCTTCCGTG -3'
(R):5'- CTGTGAACCTGGAAGGCGTAGC -3'
Sequencing Primer
(F):5'- AGGCTTCCGTGTGCCAG -3'
(R):5'- acacagacagacagacagac -3'
|
Posted On |
2014-04-24 |