Incidental Mutation 'IGL01363:Alkbh3'
| ID |
75846 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Alkbh3
|
| Ensembl Gene |
ENSMUSG00000040174 |
| Gene Name |
alkB homolog 3, alpha-ketoglutarate-dependent dioxygenase |
| Synonyms |
1810020C19Rik, Abh3, mABH3, 1700108H04Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.144)
|
| Stock # |
IGL01363
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
93810979-93841099 bp(-) (GRCm39) |
| Type of Mutation |
critical splice donor site (2 bp from exon) |
| DNA Base Change (assembly) |
A to G
at 93833396 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000122043
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000040005]
[ENSMUST00000111240]
[ENSMUST00000126378]
|
| AlphaFold |
Q8K1E6 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000040005
|
| SMART Domains |
Protein: ENSMUSP00000038721
Gene: ENSMUSG00000040174
| 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 null
Transcript: ENSMUST00000111240
|
| SMART Domains |
Protein: ENSMUSP00000106871
Gene: ENSMUSG00000040174
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:2OG-FeII_Oxy_2
|
90 |
276 |
3.6e-32 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000126378
|
| SMART Domains |
Protein: ENSMUSP00000122043
Gene: ENSMUSG00000040174
| 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
|
| Coding Region Coverage |
|
| 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 (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: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 3100002H09Rik |
A |
G |
4: 124,504,483 (GRCm39) |
F23S |
probably damaging |
Het |
| Abcg3 |
A |
G |
5: 105,096,228 (GRCm39) |
V528A |
possibly damaging |
Het |
| Adgrv1 |
A |
G |
13: 81,705,184 (GRCm39) |
V1542A |
probably damaging |
Het |
| Ang4 |
G |
T |
14: 52,001,636 (GRCm39) |
T104K |
probably benign |
Het |
| Arhgef3 |
T |
A |
14: 27,123,876 (GRCm39) |
C532* |
probably null |
Het |
| Bnip3 |
G |
A |
7: 138,499,777 (GRCm39) |
T70I |
probably benign |
Het |
| Cast |
T |
C |
13: 74,852,311 (GRCm39) |
E644G |
possibly damaging |
Het |
| Cenpc1 |
A |
T |
5: 86,194,390 (GRCm39) |
C125* |
probably null |
Het |
| Crb2 |
C |
A |
2: 37,683,845 (GRCm39) |
R1116S |
probably benign |
Het |
| Cyp2c67 |
T |
G |
19: 39,628,411 (GRCm39) |
I178L |
probably damaging |
Het |
| Cyp2c68 |
T |
A |
19: 39,691,871 (GRCm39) |
M351L |
probably benign |
Het |
| Dusp1 |
G |
A |
17: 26,725,264 (GRCm39) |
P365L |
probably damaging |
Het |
| Gatb |
T |
C |
3: 85,559,652 (GRCm39) |
L492P |
probably damaging |
Het |
| Igkv8-19 |
T |
C |
6: 70,318,083 (GRCm39) |
S48G |
probably damaging |
Het |
| Isyna1 |
G |
A |
8: 71,047,372 (GRCm39) |
V32I |
probably damaging |
Het |
| Itgb6 |
T |
A |
2: 60,441,726 (GRCm39) |
N695Y |
possibly damaging |
Het |
| Klra8 |
T |
C |
6: 130,092,561 (GRCm39) |
T247A |
probably benign |
Het |
| Mak |
G |
A |
13: 41,206,853 (GRCm39) |
|
probably benign |
Het |
| Minar2 |
G |
A |
18: 59,205,380 (GRCm39) |
G98D |
probably damaging |
Het |
| Mndal |
T |
A |
1: 173,685,022 (GRCm39) |
T516S |
possibly damaging |
Het |
| Mphosph9 |
G |
T |
5: 124,400,084 (GRCm39) |
T939K |
probably damaging |
Het |
| Nfrkb |
A |
G |
9: 31,325,667 (GRCm39) |
T1037A |
possibly damaging |
Het |
| Or2m13 |
C |
T |
16: 19,226,333 (GRCm39) |
M145I |
probably benign |
Het |
| Or8c9 |
A |
G |
9: 38,240,999 (GRCm39) |
T39A |
probably benign |
Het |
| Pard3b |
A |
G |
1: 62,676,799 (GRCm39) |
Y1011C |
probably damaging |
Het |
| Parm1 |
G |
A |
5: 91,760,877 (GRCm39) |
V250M |
probably damaging |
Het |
| Pgap2 |
T |
G |
7: 101,875,489 (GRCm39) |
M1R |
probably null |
Het |
| Phlpp2 |
T |
C |
8: 110,663,729 (GRCm39) |
F923L |
probably benign |
Het |
| Polr1a |
T |
A |
6: 71,925,470 (GRCm39) |
M739K |
probably benign |
Het |
| Pramel1 |
A |
G |
4: 143,123,955 (GRCm39) |
Y210C |
probably benign |
Het |
| Pramel27 |
A |
T |
4: 143,579,846 (GRCm39) |
Y477F |
probably benign |
Het |
| Raver2 |
A |
G |
4: 100,977,780 (GRCm39) |
|
probably benign |
Het |
| Rb1cc1 |
C |
T |
1: 6,320,333 (GRCm39) |
L1251F |
probably benign |
Het |
| Ros1 |
T |
A |
10: 52,042,238 (GRCm39) |
Y238F |
probably damaging |
Het |
| Shroom3 |
T |
C |
5: 93,088,852 (GRCm39) |
L534P |
probably benign |
Het |
| Tjp1 |
A |
T |
7: 64,952,713 (GRCm39) |
F1540L |
possibly damaging |
Het |
| Tmem200b |
C |
A |
4: 131,649,704 (GRCm39) |
P208Q |
probably benign |
Het |
| Tmem236 |
T |
C |
2: 14,179,441 (GRCm39) |
L14P |
probably damaging |
Het |
| Tubgcp6 |
A |
T |
15: 88,991,728 (GRCm39) |
I623N |
probably damaging |
Het |
| Vmn1r119 |
C |
T |
7: 20,746,056 (GRCm39) |
V109I |
probably benign |
Het |
| Vmn2r98 |
A |
G |
17: 19,286,020 (GRCm39) |
N173D |
probably benign |
Het |
|
| Other mutations in Alkbh3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
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 |
|
| Posted On |
2013-10-07 |
Incidental Mutation