Incidental Mutation 'R1546:Alkbh2'
ID |
172171 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Alkbh2
|
Ensembl Gene |
ENSMUSG00000044339 |
Gene Name |
alkB homolog 2, alpha-ketoglutarate-dependent dioxygenase |
Synonyms |
Abh2, mABH2 |
MMRRC Submission |
039585-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R1546 (G1)
|
Quality Score |
140 |
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: 99.0%
- 3x: 98.0%
- 10x: 95.2%
- 20x: 88.2%
|
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: 66 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2510039O18Rik |
T |
C |
4: 148,026,232 (GRCm39) |
S251P |
probably damaging |
Het |
Aaas |
C |
A |
15: 102,255,153 (GRCm39) |
R79L |
probably benign |
Het |
Acap2 |
C |
A |
16: 30,923,754 (GRCm39) |
E657* |
probably null |
Het |
Adgrg5 |
A |
T |
8: 95,668,258 (GRCm39) |
E441V |
probably benign |
Het |
AY358078 |
C |
T |
14: 52,057,876 (GRCm39) |
|
probably null |
Het |
Bco2 |
A |
G |
9: 50,461,929 (GRCm39) |
V25A |
possibly damaging |
Het |
Bltp1 |
T |
C |
3: 36,924,205 (GRCm39) |
V10A |
possibly damaging |
Het |
Carf |
T |
A |
1: 60,165,195 (GRCm39) |
|
probably null |
Het |
Ccdc38 |
A |
T |
10: 93,401,741 (GRCm39) |
I134L |
probably benign |
Het |
Cgnl1 |
A |
G |
9: 71,633,097 (GRCm39) |
S85P |
probably benign |
Het |
Ctsl |
A |
G |
13: 64,515,693 (GRCm39) |
V126A |
probably damaging |
Het |
Cwc27 |
A |
C |
13: 104,938,693 (GRCm39) |
S206A |
probably damaging |
Het |
D630045J12Rik |
A |
G |
6: 38,167,590 (GRCm39) |
I1004T |
probably damaging |
Het |
Dgki |
A |
G |
6: 37,027,138 (GRCm39) |
V401A |
probably damaging |
Het |
Dpp8 |
C |
T |
9: 64,970,775 (GRCm39) |
H545Y |
possibly damaging |
Het |
Dpy19l1 |
A |
T |
9: 24,386,680 (GRCm39) |
C205S |
probably damaging |
Het |
Enpp2 |
C |
T |
15: 54,709,225 (GRCm39) |
E797K |
probably benign |
Het |
Ephb2 |
C |
T |
4: 136,498,320 (GRCm39) |
R253H |
probably damaging |
Het |
Esrra |
T |
C |
19: 6,897,665 (GRCm39) |
T31A |
probably benign |
Het |
Ewsr1 |
C |
A |
11: 5,028,574 (GRCm39) |
|
probably benign |
Het |
Flt4 |
G |
T |
11: 49,522,808 (GRCm39) |
R475L |
probably benign |
Het |
Gm13547 |
A |
G |
2: 29,653,921 (GRCm39) |
E138G |
possibly damaging |
Het |
Gm572 |
A |
T |
4: 148,751,276 (GRCm39) |
R216S |
possibly damaging |
Het |
H2ac8 |
A |
G |
13: 23,755,119 (GRCm39) |
V55A |
probably damaging |
Het |
Hapln2 |
T |
A |
3: 87,931,404 (GRCm39) |
Y37F |
probably benign |
Het |
Hcn1 |
ACAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC |
ACAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC |
13: 118,112,302 (GRCm39) |
|
probably benign |
Het |
Hhla1 |
C |
T |
15: 65,805,176 (GRCm39) |
A369T |
probably benign |
Het |
Hmg20a |
T |
A |
9: 56,374,685 (GRCm39) |
F14I |
possibly damaging |
Het |
Iqca1l |
A |
T |
5: 24,760,426 (GRCm39) |
|
probably null |
Het |
Itga2 |
A |
T |
13: 114,985,956 (GRCm39) |
S940T |
possibly damaging |
Het |
Kcnt2 |
A |
G |
1: 140,359,116 (GRCm39) |
N377S |
probably benign |
Het |
Kirrel1 |
C |
T |
3: 86,996,458 (GRCm39) |
M380I |
probably null |
Het |
Lhx6 |
A |
G |
2: 35,981,049 (GRCm39) |
S298P |
probably benign |
Het |
Lrp2 |
C |
T |
2: 69,332,954 (GRCm39) |
G1521D |
probably damaging |
Het |
Mogat2 |
A |
G |
7: 98,881,766 (GRCm39) |
W57R |
probably damaging |
Het |
Ms4a3 |
T |
C |
19: 11,610,271 (GRCm39) |
N97S |
probably benign |
Het |
Myo1a |
A |
G |
10: 127,548,493 (GRCm39) |
D380G |
probably damaging |
Het |
Nufip2 |
T |
A |
11: 77,582,432 (GRCm39) |
D115E |
probably damaging |
Het |
Ogn |
A |
T |
13: 49,762,809 (GRCm39) |
K50N |
probably benign |
Het |
Or5ac20 |
T |
C |
16: 59,104,366 (GRCm39) |
R165G |
probably damaging |
Het |
Or8c10 |
A |
T |
9: 38,278,844 (GRCm39) |
M1L |
probably benign |
Het |
Pde8b |
G |
A |
13: 95,182,951 (GRCm39) |
T269I |
probably damaging |
Het |
Ppargc1b |
A |
T |
18: 61,443,677 (GRCm39) |
D495E |
probably damaging |
Het |
Prdm16 |
C |
A |
4: 154,613,117 (GRCm39) |
K103N |
possibly damaging |
Het |
Proc |
C |
T |
18: 32,260,463 (GRCm39) |
G221S |
probably damaging |
Het |
Pxk |
A |
G |
14: 8,164,091 (GRCm38) |
N561S |
probably damaging |
Het |
Rapgef5 |
A |
G |
12: 117,610,721 (GRCm39) |
N323S |
probably benign |
Het |
Slc6a13 |
T |
G |
6: 121,309,333 (GRCm39) |
D281E |
possibly damaging |
Het |
Slc8a1 |
T |
C |
17: 81,955,676 (GRCm39) |
Y454C |
probably damaging |
Het |
Sntg2 |
C |
A |
12: 30,338,295 (GRCm39) |
L115F |
probably damaging |
Het |
Spata13 |
A |
G |
14: 60,993,857 (GRCm39) |
D1103G |
probably damaging |
Het |
Supv3l1 |
G |
A |
10: 62,268,225 (GRCm39) |
A540V |
probably benign |
Het |
Tet1 |
A |
T |
10: 62,648,689 (GRCm39) |
D1914E |
probably damaging |
Het |
Tmem30a |
A |
G |
9: 79,678,570 (GRCm39) |
*329Q |
probably null |
Het |
Tspan5 |
A |
T |
3: 138,604,102 (GRCm39) |
L162F |
probably damaging |
Het |
Ttn |
T |
A |
2: 76,549,396 (GRCm39) |
K31760N |
probably damaging |
Het |
Tyr |
A |
T |
7: 87,087,200 (GRCm39) |
D437E |
probably benign |
Het |
Ubr4 |
T |
A |
4: 139,144,238 (GRCm39) |
L1427* |
probably null |
Het |
Utrn |
C |
A |
10: 12,312,108 (GRCm39) |
D616Y |
probably damaging |
Het |
Vcan |
A |
G |
13: 89,841,075 (GRCm39) |
S1490P |
probably damaging |
Het |
Vcl |
T |
A |
14: 21,059,018 (GRCm39) |
C545S |
probably damaging |
Het |
Vmn2r4 |
C |
T |
3: 64,314,309 (GRCm39) |
G224D |
probably damaging |
Het |
Vmn2r97 |
T |
A |
17: 19,168,110 (GRCm39) |
V788E |
probably damaging |
Het |
Vrtn |
G |
A |
12: 84,695,282 (GRCm39) |
V11M |
probably damaging |
Het |
Zbtb21 |
A |
T |
16: 97,753,227 (GRCm39) |
V380D |
probably damaging |
Het |
Zcchc14 |
G |
A |
8: 122,331,002 (GRCm39) |
|
probably benign |
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 |
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 |
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'- GACAGGCTTTCGGGCTGTGAAC -3'
Sequencing Primer
(F):5'- AGGCTTCCGTGTGCCAG -3'
(R):5'- acacagacagacagacagac -3'
|
Posted On |
2014-04-13 |