Incidental Mutation 'R4297:Alkbh3'
| ID |
323380 |
| 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 |
041085-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.127)
|
| Stock # |
R4297 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
93810979-93841099 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 93838469 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Histidine
at position 34
(R34H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000122043
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000040005]
[ENSMUST00000111240]
[ENSMUST00000126378]
|
| AlphaFold |
Q8K1E6 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000040005
AA Change: R33H
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000038721
Gene: ENSMUSG00000040174
AA Change: R33H
| 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: R34H
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000106871
Gene: ENSMUSG00000040174
AA Change: R34H
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:2OG-FeII_Oxy_2
|
90 |
276 |
3.6e-32 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000126378
AA Change: R34H
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000122043
Gene: ENSMUSG00000040174
AA Change: R34H
| 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: ENSMUST00000138107
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000156763
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.6%
|
| Validation Efficiency |
85% (33/39) |
| 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: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc12 |
T |
C |
8: 87,258,154 (GRCm39) |
|
probably null |
Het |
| Cacna1e |
T |
G |
1: 154,274,477 (GRCm39) |
S2143R |
probably benign |
Het |
| Camkk2 |
A |
G |
5: 122,883,769 (GRCm39) |
|
probably null |
Het |
| Cep295 |
A |
G |
9: 15,233,950 (GRCm39) |
V2282A |
probably benign |
Het |
| Cfap46 |
A |
C |
7: 139,232,589 (GRCm39) |
D827E |
probably benign |
Het |
| Col5a1 |
T |
C |
2: 27,907,216 (GRCm39) |
|
probably null |
Het |
| Col6a3 |
T |
A |
1: 90,739,100 (GRCm39) |
E376V |
probably damaging |
Het |
| Creld2 |
T |
C |
15: 88,707,956 (GRCm39) |
C232R |
probably damaging |
Het |
| Ctdp1 |
A |
T |
18: 80,493,172 (GRCm39) |
V441E |
probably benign |
Het |
| Cyp2a4 |
A |
G |
7: 26,006,793 (GRCm39) |
T51A |
probably damaging |
Het |
| Dgke |
A |
T |
11: 88,941,556 (GRCm39) |
V273D |
probably damaging |
Het |
| Epcam |
T |
C |
17: 87,947,962 (GRCm39) |
|
probably null |
Het |
| Fpr-rs3 |
A |
T |
17: 20,845,008 (GRCm39) |
N44K |
probably damaging |
Het |
| Glipr1l1 |
A |
T |
10: 111,898,252 (GRCm39) |
D119V |
probably benign |
Het |
| Gm6818 |
A |
T |
7: 38,101,877 (GRCm39) |
|
noncoding transcript |
Het |
| Gprc5b |
G |
A |
7: 118,583,437 (GRCm39) |
A144V |
possibly damaging |
Het |
| Gsto2 |
A |
C |
19: 47,864,935 (GRCm39) |
E156A |
possibly damaging |
Het |
| Hbb-bs |
T |
C |
7: 103,475,951 (GRCm39) |
D122G |
probably benign |
Het |
| Mc5r |
T |
C |
18: 68,472,378 (GRCm39) |
F246L |
probably benign |
Het |
| Ncapd3 |
A |
G |
9: 26,963,623 (GRCm39) |
N492S |
probably benign |
Het |
| Reln |
A |
C |
5: 22,125,485 (GRCm39) |
C2733G |
probably damaging |
Het |
| Setx |
GTGGCT |
GT |
2: 29,044,073 (GRCm39) |
1814 |
probably null |
Het |
| Slc6a21 |
G |
A |
7: 44,937,186 (GRCm39) |
V239M |
possibly damaging |
Het |
| St3gal2 |
T |
C |
8: 111,688,991 (GRCm39) |
M177T |
probably benign |
Het |
| Ttn |
C |
A |
2: 76,556,607 (GRCm39) |
G30133C |
probably damaging |
Het |
| Ugt1a8 |
T |
C |
1: 88,015,826 (GRCm39) |
S80P |
probably benign |
Het |
| Vax1 |
G |
T |
19: 59,154,683 (GRCm39) |
S318* |
probably null |
Het |
| Vcam1 |
A |
T |
3: 115,910,892 (GRCm39) |
V502E |
probably benign |
Het |
| Vmn2r12 |
C |
A |
5: 109,239,830 (GRCm39) |
M244I |
probably benign |
Het |
| Vps18 |
T |
A |
2: 119,127,812 (GRCm39) |
C878* |
probably null |
Het |
| Wdr11 |
A |
G |
7: 129,226,910 (GRCm39) |
R791G |
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 |
|
R3109:Alkbh3
|
UTSW |
2 |
93,835,108 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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'- AATCCTTTGTTCTGCTACTCACAAG -3'
(R):5'- GTGACTGCCATTTTGTCTGC -3'
Sequencing Primer
(F):5'- GCTACTCACAAGTAAATGTATTCAGC -3'
(R):5'- CTGCTCTGTGGATGGTGAACTAAG -3'
|
| Posted On |
2015-06-20 |
Incidental Mutation