Incidental Mutation 'R3109:Alkbh3'
ID |
263691 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Alkbh3
|
Ensembl Gene |
ENSMUSG00000040174 |
Gene Name |
alkB homolog 3, alpha-ketoglutarate-dependent dioxygenase |
Synonyms |
1810020C19Rik, Abh3, mABH3, 1700108H04Rik |
MMRRC Submission |
040583-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.144)
|
Stock # |
R3109 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
2 |
Chromosomal Location |
93810979-93841099 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 93835108 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Glycine
at position 80
(E80G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000122043
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000040005]
[ENSMUST00000111240]
[ENSMUST00000126378]
|
AlphaFold |
Q8K1E6 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000040005
AA Change: E79G
PolyPhen 2
Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000038721 Gene: ENSMUSG00000040174 AA Change: E79G
Domain | Start | End | E-Value | Type |
Pfam:2OG-FeII_Oxy_2
|
89 |
275 |
2e-34 |
PFAM |
Pfam:2OG-FeII_Oxy
|
172 |
277 |
2.1e-7 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000111240
AA Change: E80G
PolyPhen 2
Score 0.396 (Sensitivity: 0.89; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000106871 Gene: ENSMUSG00000040174 AA Change: E80G
Domain | Start | End | E-Value | Type |
Pfam:2OG-FeII_Oxy_2
|
90 |
276 |
3.6e-32 |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000126378
AA Change: E80G
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000122043 Gene: ENSMUSG00000040174 AA Change: E80G
Domain | Start | End | E-Value | Type |
Pfam:2OG-FeII_Oxy_2
|
90 |
202 |
8.9e-14 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000127231
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000130289
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000138046
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000156763
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000138107
|
Meta Mutation Damage Score |
0.3114 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.4%
|
Validation Efficiency |
100% (33/33) |
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 (MIM 610602) and ALKBH3 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: Mice homozygous for a knock-out allele exhibit a normal lifespan and are phenotypically indistinguishable from control littermates. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 29 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
6820408C15Rik |
A |
G |
2: 152,284,376 (GRCm39) |
E323G |
probably damaging |
Het |
Adamts20 |
T |
C |
15: 94,243,785 (GRCm39) |
|
probably benign |
Het |
Amfr |
T |
C |
8: 94,726,934 (GRCm39) |
Y93C |
probably damaging |
Het |
Arid2 |
T |
C |
15: 96,254,627 (GRCm39) |
Y158H |
probably damaging |
Het |
Camk1g |
T |
C |
1: 193,037,301 (GRCm39) |
Y133C |
probably damaging |
Het |
Cnnm1 |
T |
C |
19: 43,430,000 (GRCm39) |
C373R |
probably damaging |
Het |
Cnot1 |
A |
G |
8: 96,462,377 (GRCm39) |
V1691A |
probably damaging |
Het |
Cubn |
T |
C |
2: 13,367,158 (GRCm39) |
S1571G |
possibly damaging |
Het |
Dclk2 |
G |
A |
3: 86,827,342 (GRCm39) |
P46S |
probably damaging |
Het |
Dennd1b |
G |
A |
1: 138,969,654 (GRCm39) |
|
probably benign |
Het |
Dmrt2 |
C |
A |
19: 25,655,055 (GRCm39) |
T218N |
probably benign |
Het |
Drd4 |
T |
A |
7: 140,872,195 (GRCm39) |
V82E |
possibly damaging |
Het |
Fat1 |
G |
A |
8: 45,498,210 (GRCm39) |
|
probably null |
Het |
Fyn |
G |
C |
10: 39,427,451 (GRCm39) |
D445H |
probably damaging |
Het |
Igfn1 |
T |
C |
1: 135,925,586 (GRCm39) |
D56G |
probably benign |
Het |
Igkv11-125 |
T |
C |
6: 67,890,855 (GRCm39) |
F58L |
possibly damaging |
Het |
Klhdc4 |
A |
C |
8: 122,548,073 (GRCm39) |
H72Q |
probably damaging |
Het |
Kmt2c |
A |
G |
5: 25,480,733 (GRCm39) |
Y1459H |
probably damaging |
Het |
Lama2 |
C |
T |
10: 26,877,231 (GRCm39) |
E2652K |
probably benign |
Het |
Muc5b |
C |
T |
7: 141,412,496 (GRCm39) |
T1814M |
unknown |
Het |
Ntrk3 |
C |
T |
7: 78,110,263 (GRCm39) |
V324M |
probably benign |
Het |
Or52s1b |
T |
A |
7: 102,822,293 (GRCm39) |
M184L |
probably damaging |
Het |
Per2 |
A |
T |
1: 91,373,297 (GRCm39) |
C164S |
probably benign |
Het |
Ptprn2 |
A |
G |
12: 116,839,800 (GRCm39) |
D441G |
probably benign |
Het |
Rbl2 |
T |
A |
8: 91,828,863 (GRCm39) |
I588N |
probably benign |
Het |
Rslcan18 |
C |
T |
13: 67,246,671 (GRCm39) |
E314K |
possibly damaging |
Het |
Ubr3 |
A |
T |
2: 69,819,184 (GRCm39) |
T1325S |
probably damaging |
Het |
Unc45a |
A |
G |
7: 79,981,294 (GRCm39) |
|
probably benign |
Het |
Vmn1r175 |
A |
G |
7: 23,508,393 (GRCm39) |
V78A |
probably benign |
Het |
|
Other mutations in Alkbh3 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01363:Alkbh3
|
APN |
2 |
93,833,396 (GRCm39) |
critical splice donor site |
probably null |
|
IGL01940:Alkbh3
|
APN |
2 |
93,811,940 (GRCm39) |
missense |
probably damaging |
0.98 |
IGL02554:Alkbh3
|
APN |
2 |
93,826,692 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02638:Alkbh3
|
APN |
2 |
93,838,458 (GRCm39) |
missense |
probably benign |
0.02 |
IGL02640:Alkbh3
|
APN |
2 |
93,826,706 (GRCm39) |
missense |
possibly damaging |
0.90 |
R0409:Alkbh3
|
UTSW |
2 |
93,831,793 (GRCm39) |
missense |
possibly damaging |
0.84 |
R0437:Alkbh3
|
UTSW |
2 |
93,811,914 (GRCm39) |
missense |
probably damaging |
1.00 |
R1456:Alkbh3
|
UTSW |
2 |
93,831,764 (GRCm39) |
splice site |
probably null |
|
R1592:Alkbh3
|
UTSW |
2 |
93,838,769 (GRCm39) |
splice site |
probably null |
|
R2359:Alkbh3
|
UTSW |
2 |
93,838,458 (GRCm39) |
missense |
probably benign |
0.01 |
R4297:Alkbh3
|
UTSW |
2 |
93,838,469 (GRCm39) |
missense |
probably benign |
|
R5562:Alkbh3
|
UTSW |
2 |
93,826,724 (GRCm39) |
splice site |
probably null |
|
R6216:Alkbh3
|
UTSW |
2 |
93,838,881 (GRCm39) |
start gained |
probably benign |
|
R7088:Alkbh3
|
UTSW |
2 |
93,835,097 (GRCm39) |
missense |
possibly damaging |
0.55 |
R7711:Alkbh3
|
UTSW |
2 |
93,838,437 (GRCm39) |
missense |
probably benign |
|
R8014:Alkbh3
|
UTSW |
2 |
93,831,858 (GRCm39) |
missense |
probably benign |
|
R8940:Alkbh3
|
UTSW |
2 |
93,838,391 (GRCm39) |
missense |
probably damaging |
1.00 |
R9077:Alkbh3
|
UTSW |
2 |
93,811,925 (GRCm39) |
missense |
probably damaging |
0.97 |
R9158:Alkbh3
|
UTSW |
2 |
93,835,082 (GRCm39) |
missense |
probably damaging |
1.00 |
R9297:Alkbh3
|
UTSW |
2 |
93,835,082 (GRCm39) |
missense |
probably damaging |
1.00 |
R9712:Alkbh3
|
UTSW |
2 |
93,811,318 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Predicted Primers |
PCR Primer
(F):5'- AGTCCGTGTAACTGGTGGAAG -3'
(R):5'- GTTTCATGGCCTGAACCTGTC -3'
Sequencing Primer
(F):5'- GGAAGCTGTGAAAATATTTTGATGC -3'
(R):5'- TGTTCCCAGCGCCATTGAG -3'
|
Posted On |
2015-02-05 |