Incidental Mutation 'R1984:Alkbh2'
| ID |
220309 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Alkbh2
|
| Ensembl Gene |
ENSMUSG00000044339 |
| Gene Name |
alkB homolog 2, alpha-ketoglutarate-dependent dioxygenase |
| Synonyms |
Abh2, mABH2 |
| MMRRC Submission |
039996-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1984 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
5 |
| Chromosomal Location |
114261987-114266279 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 114262115 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Serine
at position 205
(N205S)
|
| 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 benign
Transcript: ENSMUST00000053657
AA Change: N205S
PolyPhen 2
Score 0.121 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000056043
Gene: ENSMUSG00000044339
AA Change: N205S
| 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 benign
Transcript: ENSMUST00000112279
AA Change: N205S
PolyPhen 2
Score 0.121 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000107898
Gene: ENSMUSG00000044339
AA Change: N205S
| 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 |
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.7%
- 20x: 94.0%
|
| 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: 61 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700013D24Rik |
A |
T |
6: 124,324,778 (GRCm39) |
L81H |
probably damaging |
Het |
| Abca8b |
A |
G |
11: 109,868,667 (GRCm39) |
C166R |
probably damaging |
Het |
| Adgrv1 |
T |
A |
13: 81,671,868 (GRCm39) |
E2242D |
probably damaging |
Het |
| Agap1 |
T |
C |
1: 89,694,045 (GRCm39) |
S448P |
probably benign |
Het |
| Aldh1a2 |
T |
C |
9: 71,160,334 (GRCm39) |
L120P |
probably damaging |
Het |
| Anapc1 |
C |
A |
2: 128,511,608 (GRCm39) |
G493C |
possibly damaging |
Het |
| Aox3 |
A |
T |
1: 58,192,220 (GRCm39) |
I497F |
possibly damaging |
Het |
| Atp2b1 |
T |
C |
10: 98,850,354 (GRCm39) |
S826P |
possibly damaging |
Het |
| Atp8b4 |
T |
A |
2: 126,164,928 (GRCm39) |
R1129S |
probably damaging |
Het |
| Bche |
T |
A |
3: 73,609,159 (GRCm39) |
Q89L |
probably benign |
Het |
| Bche |
G |
T |
3: 73,609,160 (GRCm39) |
Q89K |
probably benign |
Het |
| Bcl9 |
T |
C |
3: 97,121,050 (GRCm39) |
K171E |
probably damaging |
Het |
| Cacna1b |
A |
T |
2: 24,538,998 (GRCm39) |
Y1488N |
probably damaging |
Het |
| Dock8 |
A |
G |
19: 25,098,545 (GRCm39) |
N623S |
probably null |
Het |
| Dok6 |
T |
C |
18: 89,578,234 (GRCm39) |
E61G |
probably damaging |
Het |
| Duxf4 |
T |
A |
10: 58,071,785 (GRCm39) |
Q143L |
possibly damaging |
Het |
| Esf1 |
A |
T |
2: 139,990,806 (GRCm39) |
D559E |
possibly damaging |
Het |
| F11r |
A |
G |
1: 171,289,438 (GRCm39) |
I254V |
probably benign |
Het |
| Fkrp |
A |
G |
7: 16,545,802 (GRCm39) |
V20A |
probably benign |
Het |
| Fscb |
T |
C |
12: 64,521,457 (GRCm39) |
E3G |
unknown |
Het |
| Hdlbp |
A |
G |
1: 93,358,840 (GRCm39) |
I237T |
probably damaging |
Het |
| Hfm1 |
A |
T |
5: 107,046,442 (GRCm39) |
D481E |
probably damaging |
Het |
| Hspa4l |
T |
C |
3: 40,714,833 (GRCm39) |
V156A |
probably damaging |
Het |
| Igfn1 |
A |
G |
1: 135,889,782 (GRCm39) |
S2422P |
probably benign |
Het |
| Il23r |
T |
A |
6: 67,467,652 (GRCm39) |
|
probably null |
Het |
| Il24 |
G |
A |
1: 130,810,268 (GRCm39) |
T196I |
probably benign |
Het |
| Isg15 |
T |
C |
4: 156,284,250 (GRCm39) |
I93V |
probably benign |
Het |
| Kcna6 |
T |
C |
6: 126,715,473 (GRCm39) |
E472G |
probably benign |
Het |
| Kif21b |
G |
A |
1: 136,075,284 (GRCm39) |
D166N |
probably damaging |
Het |
| Lilrb4b |
A |
T |
10: 51,357,831 (GRCm39) |
Q80L |
possibly damaging |
Het |
| Lrrc69 |
T |
C |
4: 14,708,669 (GRCm39) |
E225G |
possibly damaging |
Het |
| Marchf6 |
A |
T |
15: 31,469,792 (GRCm39) |
L726Q |
probably damaging |
Het |
| Megf6 |
G |
T |
4: 154,352,124 (GRCm39) |
G1210C |
probably damaging |
Het |
| Msh2 |
C |
T |
17: 88,026,724 (GRCm39) |
T740I |
probably damaging |
Het |
| Myh14 |
T |
C |
7: 44,288,446 (GRCm39) |
Y514C |
probably damaging |
Het |
| Myorg |
C |
A |
4: 41,497,501 (GRCm39) |
A710S |
possibly damaging |
Het |
| Nedd1 |
T |
C |
10: 92,550,022 (GRCm39) |
T88A |
possibly damaging |
Het |
| Nfkb1 |
G |
A |
3: 135,321,110 (GRCm39) |
T215I |
possibly damaging |
Het |
| Obox1 |
A |
T |
7: 15,289,135 (GRCm39) |
I17L |
probably benign |
Het |
| Or11g24 |
A |
T |
14: 50,662,848 (GRCm39) |
I291L |
possibly damaging |
Het |
| Palb2 |
A |
C |
7: 121,726,303 (GRCm39) |
H522Q |
probably damaging |
Het |
| Pde4c |
C |
T |
8: 71,177,191 (GRCm39) |
T6M |
probably damaging |
Het |
| Plekhg1 |
A |
G |
10: 3,908,181 (GRCm39) |
K97E |
probably damaging |
Het |
| Plod3 |
A |
G |
5: 137,019,707 (GRCm39) |
|
probably null |
Het |
| Plppr3 |
A |
T |
10: 79,703,294 (GRCm39) |
Y63* |
probably null |
Het |
| Pwwp4a |
G |
T |
X: 72,171,261 (GRCm39) |
G218C |
probably damaging |
Het |
| Qrich1 |
T |
C |
9: 108,411,246 (GRCm39) |
V257A |
probably damaging |
Het |
| Rpl14 |
A |
G |
9: 120,401,253 (GRCm39) |
D32G |
possibly damaging |
Het |
| Senp8 |
A |
G |
9: 59,644,721 (GRCm39) |
V132A |
possibly damaging |
Het |
| Serac1 |
A |
G |
17: 6,095,964 (GRCm39) |
|
probably null |
Het |
| Sh2d3c |
T |
A |
2: 32,639,256 (GRCm39) |
C295* |
probably null |
Het |
| Stab1 |
A |
G |
14: 30,872,605 (GRCm39) |
F1142L |
probably benign |
Het |
| Stam2 |
T |
C |
2: 52,599,638 (GRCm39) |
T257A |
possibly damaging |
Het |
| Tedc2 |
T |
A |
17: 24,435,291 (GRCm39) |
E366V |
probably damaging |
Het |
| Tedc2 |
C |
A |
17: 24,435,292 (GRCm39) |
E366* |
probably null |
Het |
| Tg |
A |
G |
15: 66,554,691 (GRCm39) |
E702G |
probably benign |
Het |
| Tgif2lx2 |
A |
T |
X: 117,337,690 (GRCm39) |
K218* |
probably null |
Het |
| Tpp1 |
C |
A |
7: 105,400,905 (GRCm39) |
V41L |
probably benign |
Het |
| Tulp3 |
A |
T |
6: 128,303,769 (GRCm39) |
S277T |
probably benign |
Het |
| Zfp407 |
C |
T |
18: 84,577,898 (GRCm39) |
A1072T |
probably benign |
Het |
| Zfp683 |
T |
C |
4: 133,784,766 (GRCm39) |
F338L |
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 |
|
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'- TCCTTCCAGCTAAGAGAAAGC -3'
(R):5'- GGTACAAAGATGGTTGCGACC -3'
Sequencing Primer
(F):5'- CCACATTAGTACCTGTGTTGAGCAG -3'
(R):5'- CACATCGGCGAGCACAGAG -3'
|
| Posted On |
2014-08-25 |
Incidental Mutation