Incidental Mutation 'IGL01940:Alkbh3'
| ID |
180831 |
| 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 # |
IGL01940
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
93810979-93841099 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 93811940 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Isoleucine
at position 231
(T231I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000106871
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000040005]
[ENSMUST00000111240]
|
| AlphaFold |
Q8K1E6 |
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000028621
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000040005
AA Change: T230I
PolyPhen 2
Score 0.902 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000038721
Gene: ENSMUSG00000040174
AA Change: T230I
| 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 damaging
Transcript: ENSMUST00000111240
AA Change: T231I
PolyPhen 2
Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000106871
Gene: ENSMUSG00000040174
AA Change: T231I
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:2OG-FeII_Oxy_2
|
90 |
276 |
3.6e-32 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000125473
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000126255
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000130403
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000136886
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000183110
|
| 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: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca13 |
T |
C |
11: 9,517,661 (GRCm39) |
|
probably benign |
Het |
| Ahnak |
A |
T |
19: 8,983,921 (GRCm39) |
D1735V |
probably benign |
Het |
| Ap4e1 |
T |
C |
2: 126,885,431 (GRCm39) |
V344A |
probably damaging |
Het |
| Brip1 |
T |
A |
11: 85,955,792 (GRCm39) |
D907V |
probably benign |
Het |
| Clca3a1 |
A |
T |
3: 144,452,737 (GRCm39) |
M582K |
probably benign |
Het |
| Csf2 |
G |
T |
11: 54,140,351 (GRCm39) |
P29H |
probably damaging |
Het |
| Cyp2d26 |
C |
T |
15: 82,676,758 (GRCm39) |
R196H |
probably benign |
Het |
| Dagla |
A |
G |
19: 10,229,535 (GRCm39) |
V575A |
probably benign |
Het |
| Dimt1 |
T |
A |
13: 107,085,206 (GRCm39) |
|
probably benign |
Het |
| Ei24 |
A |
T |
9: 36,693,687 (GRCm39) |
F288L |
probably damaging |
Het |
| Fam107a |
T |
C |
14: 8,298,766 (GRCm38) |
H120R |
probably benign |
Het |
| Fancl |
G |
T |
11: 26,409,752 (GRCm39) |
V203F |
probably damaging |
Het |
| Fgd6 |
T |
A |
10: 93,925,512 (GRCm39) |
|
probably null |
Het |
| Flrt2 |
A |
G |
12: 95,747,012 (GRCm39) |
Y450C |
probably damaging |
Het |
| Gm21738 |
G |
A |
14: 19,416,979 (GRCm38) |
S144L |
probably benign |
Het |
| Ift122 |
A |
G |
6: 115,864,332 (GRCm39) |
|
probably benign |
Het |
| Kcnk13 |
A |
G |
12: 100,027,683 (GRCm39) |
S253G |
probably benign |
Het |
| Lcp1 |
A |
T |
14: 75,453,805 (GRCm39) |
N469I |
probably benign |
Het |
| Lrrc24 |
T |
C |
15: 76,600,257 (GRCm39) |
Y294C |
probably damaging |
Het |
| Odam |
C |
A |
5: 88,035,192 (GRCm39) |
S52Y |
possibly damaging |
Het |
| Or14j7 |
C |
T |
17: 38,235,177 (GRCm39) |
T240I |
probably damaging |
Het |
| Or4a71 |
T |
A |
2: 89,358,154 (GRCm39) |
N200I |
probably damaging |
Het |
| Or51i2 |
A |
G |
7: 103,689,129 (GRCm39) |
N42S |
probably damaging |
Het |
| Pkd1 |
G |
T |
17: 24,798,720 (GRCm39) |
R2676L |
possibly damaging |
Het |
| Plec |
T |
C |
15: 76,064,529 (GRCm39) |
D1915G |
probably damaging |
Het |
| Ptbp2 |
A |
G |
3: 119,519,764 (GRCm39) |
V9A |
possibly damaging |
Het |
| Ptk2b |
A |
G |
14: 66,396,062 (GRCm39) |
I802T |
probably benign |
Het |
| Rabgap1 |
G |
T |
2: 37,377,079 (GRCm39) |
A304S |
probably damaging |
Het |
| Sema3f |
T |
C |
9: 107,560,896 (GRCm39) |
|
probably benign |
Het |
| Serpinb3a |
A |
T |
1: 106,973,915 (GRCm39) |
V332E |
probably damaging |
Het |
| Skil |
T |
A |
3: 31,165,793 (GRCm39) |
M370K |
probably benign |
Het |
| Slc25a1 |
T |
A |
16: 17,744,304 (GRCm39) |
Y209F |
probably benign |
Het |
| Smim15 |
A |
G |
13: 108,184,164 (GRCm39) |
K57E |
probably damaging |
Het |
| Taar3 |
T |
A |
10: 23,825,855 (GRCm39) |
C134S |
probably damaging |
Het |
| Tns4 |
C |
T |
11: 98,959,047 (GRCm39) |
S684N |
probably benign |
Het |
| Vmn2r58 |
A |
G |
7: 41,487,071 (GRCm39) |
V608A |
probably benign |
Het |
| Zbtb26 |
A |
T |
2: 37,325,987 (GRCm39) |
C350S |
possibly damaging |
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 |
|
|
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 |
2014-05-07 |
Incidental Mutation