Incidental Mutation 'R1592:Alkbh3'
ID |
175658 |
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 |
039629-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.144)
|
Stock # |
R1592 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
2 |
Chromosomal Location |
93810979-93841099 bp(-) (GRCm39) |
Type of Mutation |
splice site (19 bp from exon) |
DNA Base Change (assembly) |
A to C
at 93838769 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000038721
(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 benign
Transcript: ENSMUST00000111240
AA Change: L33R
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000106871 Gene: ENSMUSG00000040174 AA Change: L33R
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: L33R
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
SMART Domains |
Protein: ENSMUSP00000122043 Gene: ENSMUSG00000040174 AA Change: L33R
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 |
0.9755 |
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.3%
- 10x: 96.1%
- 20x: 91.9%
|
Validation Efficiency |
100% (51/51) |
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: 43 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acad10 |
T |
C |
5: 121,783,444 (GRCm39) |
E327G |
probably damaging |
Het |
Acp5 |
A |
T |
9: 22,039,147 (GRCm39) |
W189R |
probably damaging |
Het |
Adamts8 |
T |
C |
9: 30,854,472 (GRCm39) |
S114P |
probably damaging |
Het |
Ankrd13d |
T |
C |
19: 4,332,919 (GRCm39) |
H27R |
probably benign |
Het |
Aox1 |
A |
G |
1: 58,339,853 (GRCm39) |
N382S |
probably benign |
Het |
Aspg |
G |
A |
12: 112,086,406 (GRCm39) |
R220Q |
probably benign |
Het |
Atg16l2 |
C |
A |
7: 100,941,193 (GRCm39) |
G403V |
probably damaging |
Het |
Bcat1 |
G |
T |
6: 144,955,784 (GRCm39) |
Q299K |
probably benign |
Het |
Cc2d1b |
C |
T |
4: 108,483,868 (GRCm39) |
|
probably benign |
Het |
Cdh26 |
T |
C |
2: 178,091,684 (GRCm39) |
F81S |
probably damaging |
Het |
Cnbd2 |
A |
G |
2: 156,177,322 (GRCm39) |
I222M |
probably benign |
Het |
Ephb3 |
T |
C |
16: 21,040,450 (GRCm39) |
V562A |
probably damaging |
Het |
Fam186a |
T |
C |
15: 99,838,199 (GRCm39) |
T2682A |
probably benign |
Het |
Fat2 |
T |
C |
11: 55,182,696 (GRCm39) |
|
probably null |
Het |
Fat4 |
A |
T |
3: 39,061,326 (GRCm39) |
D4303V |
probably damaging |
Het |
Fbln1 |
T |
A |
15: 85,115,665 (GRCm39) |
S234T |
probably benign |
Het |
Gldc |
G |
A |
19: 30,138,077 (GRCm39) |
|
probably benign |
Het |
Gli1 |
A |
C |
10: 127,167,198 (GRCm39) |
V685G |
probably damaging |
Het |
H2-T22 |
T |
C |
17: 36,352,469 (GRCm39) |
N152S |
probably damaging |
Het |
Inpp5d |
A |
T |
1: 87,593,254 (GRCm39) |
D118V |
possibly damaging |
Het |
Ints10 |
A |
G |
8: 69,255,555 (GRCm39) |
I182V |
possibly damaging |
Het |
Ipcef1 |
C |
T |
10: 6,885,182 (GRCm39) |
|
probably null |
Het |
Kcnj3 |
G |
T |
2: 55,327,898 (GRCm39) |
R229L |
probably damaging |
Het |
Klf11 |
C |
A |
12: 24,703,737 (GRCm39) |
D57E |
probably damaging |
Het |
Krt73 |
G |
T |
15: 101,710,674 (GRCm39) |
S20* |
probably null |
Het |
Lactbl1 |
A |
G |
4: 136,363,187 (GRCm39) |
|
probably null |
Het |
Mapk10 |
T |
C |
5: 103,186,487 (GRCm39) |
D45G |
possibly damaging |
Het |
Mfrp |
G |
A |
9: 44,014,519 (GRCm39) |
C222Y |
probably damaging |
Het |
Mga |
A |
T |
2: 119,795,147 (GRCm39) |
I2944F |
possibly damaging |
Het |
Msh2 |
A |
G |
17: 87,987,441 (GRCm39) |
|
probably null |
Het |
Nckap1l |
T |
A |
15: 103,390,607 (GRCm39) |
|
probably null |
Het |
Or5m9 |
A |
G |
2: 85,877,333 (GRCm39) |
N169S |
probably benign |
Het |
Pitpnm1 |
T |
A |
19: 4,156,964 (GRCm39) |
|
probably null |
Het |
Sik2 |
C |
T |
9: 50,906,971 (GRCm39) |
V85I |
probably damaging |
Het |
Slc26a7 |
T |
A |
4: 14,552,470 (GRCm39) |
E229V |
probably benign |
Het |
Spty2d1 |
A |
T |
7: 46,648,637 (GRCm39) |
D97E |
possibly damaging |
Het |
Tcaim |
G |
A |
9: 122,647,838 (GRCm39) |
|
probably null |
Het |
Tdrd3 |
T |
A |
14: 87,743,322 (GRCm39) |
N417K |
probably damaging |
Het |
Uggt1 |
C |
A |
1: 36,241,939 (GRCm39) |
A332S |
probably benign |
Het |
Usp53 |
A |
T |
3: 122,727,699 (GRCm39) |
L961* |
probably null |
Het |
Vmn1r223 |
A |
T |
13: 23,433,837 (GRCm39) |
T144S |
possibly damaging |
Het |
Wdfy1 |
G |
A |
1: 79,683,972 (GRCm39) |
R388C |
probably damaging |
Het |
Zfp995 |
T |
A |
17: 22,106,321 (GRCm39) |
M1L |
probably 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 |
|
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 |
|
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 |
|
Predicted Primers |
PCR Primer
(F):5'- TCAACAAGAGCCGATAAGAACTGCG -3'
(R):5'- ACTTACCCTTTACTAGGCCAGGCAC -3'
Sequencing Primer
(F):5'- CTGCGTGAAGATGACTTATGACC -3'
(R):5'- GTTTTGAAAACAGGTAGCCATCCC -3'
|
Posted On |
2014-04-24 |