Incidental Mutation 'R4062:Alkbh2'
ID |
315902 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Alkbh2
|
Ensembl Gene |
ENSMUSG00000044339 |
Gene Name |
alkB homolog 2, alpha-ketoglutarate-dependent dioxygenase |
Synonyms |
Abh2, mABH2 |
MMRRC Submission |
040971-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R4062 (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: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.8%
|
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 |
1700019A02Rik |
A |
T |
1: 53,197,928 (GRCm39) |
L140Q |
probably damaging |
Het |
Adam17 |
T |
C |
12: 21,375,458 (GRCm39) |
D787G |
probably damaging |
Het |
Adamtsl4 |
T |
C |
3: 95,584,864 (GRCm39) |
K935E |
probably benign |
Het |
Bnip3l |
T |
C |
14: 67,246,187 (GRCm39) |
N16S |
possibly damaging |
Het |
Cd320 |
T |
A |
17: 34,066,491 (GRCm39) |
N90K |
probably benign |
Het |
Cdc40 |
A |
T |
10: 40,725,848 (GRCm39) |
|
probably null |
Het |
Clec4b1 |
C |
A |
6: 123,045,443 (GRCm39) |
H55N |
probably benign |
Het |
Cyp4a10 |
A |
T |
4: 115,376,898 (GRCm39) |
R87S |
probably benign |
Het |
Duoxa2 |
G |
T |
2: 122,131,058 (GRCm39) |
S73I |
probably damaging |
Het |
Dytn |
A |
G |
1: 63,686,606 (GRCm39) |
C355R |
probably benign |
Het |
Emilin3 |
T |
C |
2: 160,749,716 (GRCm39) |
T631A |
probably benign |
Het |
Ep400 |
A |
T |
5: 110,889,847 (GRCm39) |
M472K |
probably benign |
Het |
Erap1 |
G |
T |
13: 74,811,655 (GRCm39) |
M338I |
probably benign |
Het |
Espl1 |
A |
G |
15: 102,221,424 (GRCm39) |
I944V |
probably damaging |
Het |
Fanca |
T |
C |
8: 124,001,911 (GRCm39) |
T1061A |
probably benign |
Het |
Fat1 |
A |
T |
8: 45,478,518 (GRCm39) |
E2521D |
probably benign |
Het |
Gcdh |
T |
C |
8: 85,619,082 (GRCm39) |
I152V |
probably damaging |
Het |
Gls |
T |
C |
1: 52,235,907 (GRCm39) |
K403E |
probably damaging |
Het |
Gorasp2 |
T |
C |
2: 70,509,857 (GRCm39) |
C173R |
probably damaging |
Het |
Greb1l |
G |
A |
18: 10,522,150 (GRCm39) |
V749I |
probably damaging |
Het |
Hnrnpll |
T |
C |
17: 80,340,201 (GRCm39) |
H526R |
probably benign |
Het |
Il18r1 |
G |
A |
1: 40,514,096 (GRCm39) |
V101I |
probably benign |
Het |
Incenp |
A |
T |
19: 9,861,142 (GRCm39) |
M480K |
unknown |
Het |
Isl1 |
T |
A |
13: 116,439,626 (GRCm39) |
I241F |
probably benign |
Het |
Kdm6a |
A |
G |
X: 18,117,114 (GRCm39) |
T266A |
probably benign |
Het |
Lcp1 |
T |
C |
14: 75,452,620 (GRCm39) |
V442A |
probably damaging |
Het |
Mast3 |
A |
G |
8: 71,233,838 (GRCm39) |
V969A |
probably damaging |
Het |
Mbnl1 |
T |
C |
3: 60,511,176 (GRCm39) |
L136P |
probably damaging |
Het |
Mrps24 |
G |
A |
11: 5,654,676 (GRCm39) |
R93* |
probably null |
Het |
Nkd2 |
C |
T |
13: 73,970,809 (GRCm39) |
G258R |
probably null |
Het |
Obscn |
T |
C |
11: 58,973,536 (GRCm39) |
T1932A |
probably damaging |
Het |
Otop2 |
G |
A |
11: 115,220,201 (GRCm39) |
G347D |
probably damaging |
Het |
Plagl1 |
TGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCC |
TGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCC |
10: 13,004,515 (GRCm39) |
|
probably benign |
Het |
Ptpn18 |
A |
T |
1: 34,512,011 (GRCm39) |
H45L |
possibly damaging |
Het |
Rab3il1 |
T |
C |
19: 10,003,988 (GRCm39) |
S36P |
probably benign |
Het |
Rims1 |
G |
T |
1: 22,572,664 (GRCm39) |
N512K |
probably benign |
Het |
Rinl |
T |
C |
7: 28,490,140 (GRCm39) |
Y60H |
probably benign |
Het |
Scamp2 |
G |
T |
9: 57,484,545 (GRCm39) |
|
probably null |
Het |
Septin9 |
T |
C |
11: 117,243,091 (GRCm39) |
S324P |
probably damaging |
Het |
Sh3pxd2b |
G |
T |
11: 32,372,263 (GRCm39) |
A477S |
probably benign |
Het |
Soat2 |
A |
G |
15: 102,069,526 (GRCm39) |
T396A |
possibly damaging |
Het |
Tenm2 |
C |
T |
11: 35,899,482 (GRCm39) |
G2559S |
probably damaging |
Het |
Tpcn1 |
G |
A |
5: 120,695,962 (GRCm39) |
A97V |
possibly damaging |
Het |
Trdn |
A |
G |
10: 33,133,083 (GRCm39) |
E311G |
probably benign |
Het |
Usp13 |
T |
C |
3: 32,935,572 (GRCm39) |
Y333H |
probably damaging |
Het |
Usp18 |
A |
G |
6: 121,238,326 (GRCm39) |
T158A |
probably benign |
Het |
Vmn1r118 |
G |
T |
7: 20,645,933 (GRCm39) |
Q114K |
probably damaging |
Het |
Wwp1 |
A |
T |
4: 19,638,644 (GRCm39) |
N566K |
possibly damaging |
Het |
Zfp292 |
A |
G |
4: 34,810,863 (GRCm39) |
V727A |
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 |
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 |
2015-05-15 |