Incidental Mutation 'R1545:Alkbh2'
| ID |
172099 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Alkbh2
|
| Ensembl Gene |
ENSMUSG00000044339 |
| Gene Name |
alkB homolog 2, alpha-ketoglutarate-dependent dioxygenase |
| Synonyms |
Abh2, mABH2 |
| MMRRC Submission |
039584-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1545 (G1)
|
| Quality Score |
124 |
|
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: 90.6%
|
| 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: 53 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aaas |
C |
T |
15: 102,247,641 (GRCm39) |
R410H |
probably damaging |
Het |
| Abca2 |
T |
C |
2: 25,332,370 (GRCm39) |
C1468R |
probably benign |
Het |
| Actl9 |
T |
A |
17: 33,652,231 (GRCm39) |
I97N |
probably damaging |
Het |
| Asb3 |
T |
A |
11: 31,006,217 (GRCm39) |
M234K |
probably benign |
Het |
| Bax |
A |
C |
7: 45,111,357 (GRCm39) |
H168Q |
probably null |
Het |
| Brinp1 |
A |
G |
4: 68,681,192 (GRCm39) |
L446P |
possibly damaging |
Het |
| Cdc14a |
A |
G |
3: 116,087,373 (GRCm39) |
|
probably null |
Het |
| Cfap299 |
C |
A |
5: 98,477,291 (GRCm39) |
Q27K |
probably benign |
Het |
| Cpq |
A |
T |
15: 33,250,146 (GRCm39) |
I168F |
probably damaging |
Het |
| Crkl |
A |
T |
16: 17,301,556 (GRCm39) |
N270I |
probably damaging |
Het |
| Cul7 |
G |
A |
17: 46,962,479 (GRCm39) |
E37K |
probably damaging |
Het |
| Eps15 |
C |
T |
4: 109,169,526 (GRCm39) |
T112I |
probably benign |
Het |
| F5 |
C |
T |
1: 164,036,529 (GRCm39) |
R1897* |
probably null |
Het |
| Fbxl5 |
A |
T |
5: 43,928,140 (GRCm39) |
L40Q |
probably damaging |
Het |
| Fhip1a |
C |
T |
3: 85,573,261 (GRCm39) |
S896N |
probably damaging |
Het |
| Gprc5a |
C |
A |
6: 135,060,459 (GRCm39) |
T316K |
probably damaging |
Het |
| Hectd4 |
T |
A |
5: 121,462,019 (GRCm39) |
L2299Q |
possibly damaging |
Het |
| Khdc3 |
C |
G |
9: 73,010,942 (GRCm39) |
P240R |
probably benign |
Het |
| Kif20b |
A |
G |
19: 34,906,318 (GRCm39) |
T69A |
probably damaging |
Het |
| Kptn |
C |
G |
7: 15,857,888 (GRCm39) |
Q239E |
probably benign |
Het |
| Lep |
T |
C |
6: 29,070,831 (GRCm39) |
S52P |
probably damaging |
Het |
| Lrig3 |
G |
A |
10: 125,844,416 (GRCm39) |
V627M |
possibly damaging |
Het |
| Lrrc37 |
T |
C |
11: 103,499,745 (GRCm39) |
K615E |
probably benign |
Het |
| Mdga1 |
G |
A |
17: 30,061,876 (GRCm39) |
R792C |
probably damaging |
Het |
| Mink1 |
T |
C |
11: 70,489,717 (GRCm39) |
V58A |
possibly damaging |
Het |
| Neu1 |
G |
A |
17: 35,153,374 (GRCm39) |
R299Q |
probably benign |
Het |
| Nrg3 |
T |
A |
14: 38,129,111 (GRCm39) |
I375F |
probably benign |
Het |
| Nup50 |
A |
G |
15: 84,823,993 (GRCm39) |
T449A |
possibly damaging |
Het |
| Nup98 |
A |
G |
7: 101,784,087 (GRCm39) |
S1082P |
possibly damaging |
Het |
| Or8b1b |
C |
A |
9: 38,375,815 (GRCm39) |
H159Q |
probably benign |
Het |
| Otub1 |
T |
C |
19: 7,176,571 (GRCm39) |
I188V |
probably benign |
Het |
| Pcdhac2 |
T |
C |
18: 37,279,186 (GRCm39) |
I722T |
possibly damaging |
Het |
| Pcsk7 |
T |
A |
9: 45,825,646 (GRCm39) |
D292E |
probably damaging |
Het |
| Peli2 |
T |
A |
14: 48,490,174 (GRCm39) |
D215E |
probably benign |
Het |
| Ppp1r9a |
T |
C |
6: 5,156,242 (GRCm39) |
|
probably null |
Het |
| Ppp2r1b |
A |
G |
9: 50,773,725 (GRCm39) |
K136R |
possibly damaging |
Het |
| Prpf3 |
T |
C |
3: 95,755,115 (GRCm39) |
K157E |
probably damaging |
Het |
| Prss50 |
T |
C |
9: 110,690,336 (GRCm39) |
S160P |
probably damaging |
Het |
| Ptprb |
T |
C |
10: 116,216,774 (GRCm39) |
V2251A |
probably damaging |
Het |
| Rgs6 |
G |
A |
12: 83,162,951 (GRCm39) |
E386K |
probably damaging |
Het |
| Rida |
A |
G |
15: 34,495,250 (GRCm39) |
I5T |
probably benign |
Het |
| Rpe |
A |
G |
1: 66,740,169 (GRCm39) |
H35R |
probably damaging |
Het |
| Sema4b |
T |
A |
7: 79,868,771 (GRCm39) |
D321E |
probably benign |
Het |
| Slc22a13 |
G |
A |
9: 119,038,113 (GRCm39) |
A5V |
probably benign |
Het |
| Snta1 |
C |
T |
2: 154,218,926 (GRCm39) |
|
probably null |
Het |
| Spdye4c |
T |
A |
2: 128,437,632 (GRCm39) |
N220K |
probably benign |
Het |
| Sult1c2 |
G |
T |
17: 54,269,176 (GRCm39) |
A280E |
possibly damaging |
Het |
| Tfr2 |
A |
G |
5: 137,581,561 (GRCm39) |
E579G |
probably benign |
Het |
| Tmem221 |
A |
G |
8: 72,011,182 (GRCm39) |
L91P |
probably damaging |
Het |
| Tspear |
T |
A |
10: 77,706,253 (GRCm39) |
L341H |
possibly damaging |
Het |
| Vmn1r17 |
A |
G |
6: 57,338,317 (GRCm39) |
V16A |
probably benign |
Het |
| Vmn1r188 |
A |
G |
13: 22,272,603 (GRCm39) |
R186G |
probably damaging |
Het |
| Wfikkn1 |
A |
G |
17: 26,097,565 (GRCm39) |
V253A |
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 |
|
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 |
|
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 |
Incidental Mutation