Incidental Mutation 'R1629:Alkbh2'
ID |
172668 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Alkbh2
|
Ensembl Gene |
ENSMUSG00000044339 |
Gene Name |
alkB homolog 2, alpha-ketoglutarate-dependent dioxygenase |
Synonyms |
Abh2, mABH2 |
MMRRC Submission |
039666-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R1629 (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: 98.2%
- 10x: 95.9%
- 20x: 91.5%
|
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: 47 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adamts19 |
A |
C |
18: 59,087,691 (GRCm39) |
I574L |
probably damaging |
Het |
BC005624 |
T |
C |
2: 30,864,020 (GRCm39) |
E191G |
probably damaging |
Het |
Cbx2 |
A |
G |
11: 118,919,806 (GRCm39) |
D457G |
probably damaging |
Het |
Ccdc110 |
A |
G |
8: 46,395,164 (GRCm39) |
K352E |
probably benign |
Het |
Cdk14 |
A |
T |
5: 5,153,807 (GRCm39) |
H183Q |
probably benign |
Het |
Cfap58 |
A |
G |
19: 47,929,778 (GRCm39) |
T80A |
probably benign |
Het |
Cftr |
C |
T |
6: 18,226,105 (GRCm39) |
T351I |
probably damaging |
Het |
Col27a1 |
A |
G |
4: 63,248,100 (GRCm39) |
|
probably benign |
Het |
Cp |
T |
A |
3: 20,020,614 (GRCm39) |
|
probably null |
Het |
Cpne8 |
A |
T |
15: 90,456,175 (GRCm39) |
V196E |
probably benign |
Het |
Dmxl1 |
T |
G |
18: 49,992,353 (GRCm39) |
|
probably null |
Het |
Dnm2 |
T |
A |
9: 21,415,754 (GRCm39) |
L642Q |
probably damaging |
Het |
Dock2 |
G |
T |
11: 34,212,480 (GRCm39) |
|
probably null |
Het |
Dock9 |
A |
G |
14: 121,780,986 (GRCm39) |
F2091L |
possibly damaging |
Het |
Eaf2 |
A |
G |
16: 36,645,063 (GRCm39) |
V53A |
probably damaging |
Het |
Fbl |
G |
T |
7: 27,874,212 (GRCm39) |
|
probably benign |
Het |
Fbn2 |
T |
C |
18: 58,159,610 (GRCm39) |
D2373G |
probably damaging |
Het |
Gbp2b |
A |
G |
3: 142,316,735 (GRCm39) |
Y462C |
possibly damaging |
Het |
Il1rl2 |
T |
A |
1: 40,396,020 (GRCm39) |
F348I |
probably benign |
Het |
Khdc1a |
T |
A |
1: 21,421,121 (GRCm39) |
I102N |
possibly damaging |
Het |
Klhl11 |
T |
C |
11: 100,355,012 (GRCm39) |
T270A |
probably benign |
Het |
Lama1 |
T |
C |
17: 68,112,423 (GRCm39) |
S2288P |
probably benign |
Het |
Lrfn4 |
T |
C |
19: 4,663,523 (GRCm39) |
E337G |
possibly damaging |
Het |
Macf1 |
C |
A |
4: 123,402,208 (GRCm39) |
E549* |
probably null |
Het |
Mmp3 |
G |
T |
9: 7,447,641 (GRCm39) |
V209F |
probably benign |
Het |
Mslnl |
G |
A |
17: 25,961,908 (GRCm39) |
V128M |
probably damaging |
Het |
Myh9 |
G |
A |
15: 77,648,601 (GRCm39) |
R1725W |
probably damaging |
Het |
Nbea |
A |
T |
3: 55,910,312 (GRCm39) |
D1294E |
possibly damaging |
Het |
Nrcam |
G |
A |
12: 44,610,769 (GRCm39) |
A496T |
probably benign |
Het |
Nufip2 |
A |
G |
11: 77,583,834 (GRCm39) |
T583A |
probably benign |
Het |
Or5m3b |
A |
G |
2: 85,871,766 (GRCm39) |
T36A |
probably damaging |
Het |
Ppig |
C |
A |
2: 69,566,217 (GRCm39) |
T128K |
probably damaging |
Het |
Ppp2r2a |
A |
T |
14: 67,257,208 (GRCm39) |
C341S |
possibly damaging |
Het |
Ptpre |
A |
T |
7: 135,271,528 (GRCm39) |
D374V |
probably damaging |
Het |
Ranbp3l |
A |
C |
15: 9,065,068 (GRCm39) |
Q485P |
probably damaging |
Het |
Rapgef6 |
TG |
TGG |
11: 54,437,223 (GRCm39) |
|
probably null |
Het |
Slc1a7 |
A |
G |
4: 107,865,340 (GRCm39) |
Y276C |
probably damaging |
Het |
Smarcad1 |
A |
G |
6: 65,044,091 (GRCm39) |
D221G |
probably benign |
Het |
Smn1 |
C |
A |
13: 100,264,404 (GRCm39) |
T45N |
probably damaging |
Het |
Son |
T |
C |
16: 91,454,510 (GRCm39) |
S1086P |
probably damaging |
Het |
Ssmem1 |
T |
A |
6: 30,512,491 (GRCm39) |
Y45N |
possibly damaging |
Het |
Tasor2 |
T |
C |
13: 3,624,121 (GRCm39) |
H1943R |
possibly damaging |
Het |
Tmem184c |
A |
C |
8: 78,329,551 (GRCm39) |
F170V |
possibly damaging |
Het |
Tmem184c |
A |
T |
8: 78,332,791 (GRCm39) |
|
probably null |
Het |
Vmn1r59 |
C |
T |
7: 5,457,466 (GRCm39) |
C98Y |
probably damaging |
Het |
Vmn2r23 |
T |
A |
6: 123,690,386 (GRCm39) |
S421T |
probably benign |
Het |
Vmn2r98 |
T |
C |
17: 19,287,645 (GRCm39) |
S493P |
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 |
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 |
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 |