Incidental Mutation 'IGL03055:Alkbh8'
ID |
409217 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Alkbh8
|
Ensembl Gene |
ENSMUSG00000025899 |
Gene Name |
alkB homolog 8, tRNA methyltransferase |
Synonyms |
Abh8, 8030431D03Rik, 4930562C03Rik, 9430088N01Rik |
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
IGL03055 (G1)
|
Quality Score |
|
Status
|
|
Chromosome |
9 |
Chromosomal Location |
3335151-3391154 bp(+) (GRCm39) |
Type of Mutation |
splice site |
DNA Base Change (assembly) |
T to C
at 3345882 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000148347
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000053407]
[ENSMUST00000165105]
[ENSMUST00000211933]
[ENSMUST00000212154]
[ENSMUST00000212294]
[ENSMUST00000212358]
[ENSMUST00000212817]
[ENSMUST00000212666]
|
AlphaFold |
Q80Y20 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000053407
|
SMART Domains |
Protein: ENSMUSP00000061511 Gene: ENSMUSG00000025899
Domain | Start | End | E-Value | Type |
Pfam:DUF1891
|
1 |
37 |
4.9e-18 |
PFAM |
RRM
|
44 |
116 |
1.64e-2 |
SMART |
Pfam:2OG-FeII_Oxy_2
|
136 |
334 |
8.7e-27 |
PFAM |
Pfam:2OG-FeII_Oxy
|
220 |
336 |
1.8e-11 |
PFAM |
Pfam:Methyltransf_8
|
359 |
522 |
4.5e-8 |
PFAM |
Pfam:Methyltransf_23
|
386 |
534 |
1e-9 |
PFAM |
Pfam:Methyltransf_31
|
404 |
547 |
3.5e-8 |
PFAM |
Pfam:Methyltransf_25
|
410 |
497 |
1.7e-9 |
PFAM |
Pfam:Methyltransf_11
|
411 |
501 |
5.5e-17 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000165105
|
SMART Domains |
Protein: ENSMUSP00000125996 Gene: ENSMUSG00000025899
Domain | Start | End | E-Value | Type |
Pfam:DUF1891
|
1 |
37 |
4.9e-18 |
PFAM |
RRM
|
44 |
116 |
1.64e-2 |
SMART |
Pfam:2OG-FeII_Oxy_2
|
136 |
334 |
1.6e-24 |
PFAM |
Pfam:Methyltransf_8
|
359 |
522 |
4.5e-8 |
PFAM |
Pfam:Methyltransf_25
|
410 |
497 |
1.5e-9 |
PFAM |
Pfam:Methyltransf_11
|
411 |
501 |
1.8e-16 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000211884
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000211933
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000212154
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000212294
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000212358
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000212817
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000212666
|
Coding Region Coverage |
- 1x: 0.0%
- 3x: 0.0%
- 10x: 0.0%
- 20x: 0.0%
|
Validation Efficiency |
98% (58/59) |
MGI Phenotype |
PHENOTYPE: Homozygous mutants show no obvious phenotype at 20 months of age. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 48 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2900041M22Rik |
T |
A |
11: 117,503,072 (GRCm39) |
|
noncoding transcript |
Het |
4933416I08Rik |
TCC |
TCCC |
X: 52,692,862 (GRCm39) |
|
noncoding transcript |
Het |
A430005L14Rik |
T |
A |
4: 154,045,092 (GRCm39) |
S40R |
probably benign |
Het |
Aire |
A |
G |
10: 77,878,903 (GRCm39) |
L48P |
probably damaging |
Het |
Aqp7 |
A |
G |
4: 41,045,326 (GRCm39) |
M18T |
probably benign |
Het |
Cchcr1 |
T |
A |
17: 35,837,516 (GRCm39) |
M406K |
probably benign |
Het |
Cdhr1 |
A |
T |
14: 36,817,054 (GRCm39) |
D102E |
probably benign |
Het |
Cilp |
TGGG |
TGG |
9: 65,187,412 (GRCm39) |
|
probably null |
Het |
Clec16a |
T |
A |
16: 10,559,645 (GRCm39) |
S973T |
probably damaging |
Het |
Crb1 |
CG |
C |
1: 139,164,824 (GRCm39) |
|
probably null |
Het |
Csmd1 |
A |
G |
8: 16,145,515 (GRCm39) |
Y1471H |
probably damaging |
Het |
Dnah12 |
A |
G |
14: 26,594,697 (GRCm39) |
Y3489C |
probably damaging |
Het |
Ect2 |
T |
C |
3: 27,191,211 (GRCm39) |
E464G |
probably damaging |
Het |
Enpp2 |
C |
A |
15: 54,729,481 (GRCm39) |
|
probably null |
Het |
Erich2 |
G |
T |
2: 70,339,529 (GRCm39) |
C28F |
possibly damaging |
Het |
Fam135b |
A |
T |
15: 71,493,883 (GRCm39) |
H15Q |
possibly damaging |
Het |
Fcna |
G |
C |
2: 25,520,693 (GRCm39) |
|
probably benign |
Het |
Gfral |
T |
A |
9: 76,115,831 (GRCm39) |
T48S |
probably benign |
Het |
Itga10 |
A |
G |
3: 96,557,836 (GRCm39) |
E293G |
probably damaging |
Het |
Lrp2 |
A |
T |
2: 69,288,792 (GRCm39) |
N3691K |
probably damaging |
Het |
Mmp1a |
TG |
TGG |
9: 7,465,083 (GRCm38) |
|
probably null |
Het |
Nefm |
T |
C |
14: 68,360,358 (GRCm39) |
T371A |
probably damaging |
Het |
Nkain3 |
C |
A |
4: 20,778,308 (GRCm39) |
C3F |
probably benign |
Het |
Nol4l |
G |
C |
2: 153,278,190 (GRCm39) |
|
silent |
Het |
Nprl3 |
C |
A |
11: 32,198,230 (GRCm39) |
|
probably benign |
Het |
Or52p1 |
A |
T |
7: 104,267,413 (GRCm39) |
I176F |
probably damaging |
Het |
Pate2 |
T |
C |
9: 35,523,069 (GRCm39) |
|
probably benign |
Het |
Pde4d |
A |
G |
13: 110,071,879 (GRCm39) |
K128R |
probably damaging |
Het |
Ptprt |
A |
G |
2: 161,375,533 (GRCm39) |
L1329P |
probably damaging |
Het |
Rapgef3 |
T |
C |
15: 97,647,370 (GRCm39) |
|
probably benign |
Het |
Rassf5 |
T |
C |
1: 131,172,732 (GRCm39) |
I46V |
probably benign |
Het |
Rin1 |
C |
T |
19: 5,103,187 (GRCm39) |
T481I |
probably benign |
Het |
Samd4b |
A |
G |
7: 28,104,971 (GRCm39) |
L524P |
possibly damaging |
Het |
Speer4c1 |
A |
C |
5: 15,919,214 (GRCm39) |
|
probably benign |
Het |
Srebf1 |
T |
C |
11: 60,097,902 (GRCm39) |
|
silent |
Het |
Ssh2 |
C |
T |
11: 77,299,021 (GRCm39) |
Q123* |
probably null |
Het |
St18 |
G |
T |
1: 6,872,959 (GRCm39) |
L231F |
probably damaging |
Het |
Stk11 |
A |
C |
10: 79,963,920 (GRCm39) |
D96A |
probably damaging |
Het |
Svil |
A |
G |
18: 5,108,615 (GRCm39) |
T1918A |
probably damaging |
Het |
Thrap3 |
G |
A |
4: 126,059,335 (GRCm39) |
|
probably null |
Het |
Tlr1 |
C |
A |
5: 65,083,939 (GRCm39) |
V213F |
probably benign |
Het |
Trappc10 |
C |
T |
10: 78,050,520 (GRCm39) |
R307Q |
probably damaging |
Het |
Ugt1a1 |
AT |
A |
1: 88,140,093 (GRCm39) |
|
probably null |
Het |
Wnt6 |
G |
A |
1: 74,822,013 (GRCm39) |
R198H |
probably damaging |
Het |
Yipf2 |
A |
T |
9: 21,501,019 (GRCm39) |
V98E |
probably benign |
Het |
Zc3h15 |
A |
G |
2: 83,491,515 (GRCm39) |
T248A |
possibly damaging |
Het |
Zc3hav1 |
C |
T |
6: 38,293,251 (GRCm39) |
|
probably null |
Het |
Zfp697 |
T |
G |
3: 98,332,810 (GRCm39) |
C79G |
possibly damaging |
Het |
|
Other mutations in Alkbh8 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00705:Alkbh8
|
APN |
9 |
3,359,588 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01419:Alkbh8
|
APN |
9 |
3,385,354 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01457:Alkbh8
|
APN |
9 |
3,369,825 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02398:Alkbh8
|
APN |
9 |
3,345,870 (GRCm39) |
missense |
possibly damaging |
0.77 |
IGL02503:Alkbh8
|
APN |
9 |
3,347,852 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02824:Alkbh8
|
APN |
9 |
3,368,021 (GRCm39) |
splice site |
probably null |
|
IGL03001:Alkbh8
|
APN |
9 |
3,344,602 (GRCm39) |
missense |
probably benign |
|
R0046:Alkbh8
|
UTSW |
9 |
3,343,247 (GRCm39) |
missense |
probably damaging |
1.00 |
R0046:Alkbh8
|
UTSW |
9 |
3,343,247 (GRCm39) |
missense |
probably damaging |
1.00 |
R0403:Alkbh8
|
UTSW |
9 |
3,385,469 (GRCm39) |
missense |
probably damaging |
1.00 |
R1331:Alkbh8
|
UTSW |
9 |
3,347,916 (GRCm39) |
splice site |
probably null |
|
R1688:Alkbh8
|
UTSW |
9 |
3,382,765 (GRCm39) |
missense |
probably damaging |
1.00 |
R1859:Alkbh8
|
UTSW |
9 |
3,385,499 (GRCm39) |
missense |
probably benign |
0.07 |
R2014:Alkbh8
|
UTSW |
9 |
3,343,216 (GRCm39) |
nonsense |
probably null |
|
R3016:Alkbh8
|
UTSW |
9 |
3,369,658 (GRCm39) |
missense |
probably benign |
0.08 |
R3722:Alkbh8
|
UTSW |
9 |
3,385,153 (GRCm39) |
missense |
probably damaging |
1.00 |
R4744:Alkbh8
|
UTSW |
9 |
3,344,604 (GRCm39) |
nonsense |
probably null |
|
R4840:Alkbh8
|
UTSW |
9 |
3,369,751 (GRCm39) |
missense |
probably damaging |
1.00 |
R5403:Alkbh8
|
UTSW |
9 |
3,385,318 (GRCm39) |
missense |
probably benign |
0.00 |
R5644:Alkbh8
|
UTSW |
9 |
3,385,384 (GRCm39) |
missense |
probably damaging |
1.00 |
R5677:Alkbh8
|
UTSW |
9 |
3,385,147 (GRCm39) |
missense |
possibly damaging |
0.93 |
R5902:Alkbh8
|
UTSW |
9 |
3,385,414 (GRCm39) |
missense |
probably benign |
0.04 |
R6293:Alkbh8
|
UTSW |
9 |
3,347,841 (GRCm39) |
missense |
possibly damaging |
0.52 |
R7352:Alkbh8
|
UTSW |
9 |
3,345,796 (GRCm39) |
missense |
probably damaging |
0.99 |
R7457:Alkbh8
|
UTSW |
9 |
3,343,056 (GRCm39) |
missense |
probably damaging |
0.99 |
R7869:Alkbh8
|
UTSW |
9 |
3,359,503 (GRCm39) |
missense |
probably damaging |
1.00 |
R7887:Alkbh8
|
UTSW |
9 |
3,385,343 (GRCm39) |
missense |
probably damaging |
0.99 |
R8052:Alkbh8
|
UTSW |
9 |
3,385,478 (GRCm39) |
missense |
probably damaging |
1.00 |
R8486:Alkbh8
|
UTSW |
9 |
3,344,642 (GRCm39) |
missense |
probably null |
1.00 |
R8506:Alkbh8
|
UTSW |
9 |
3,335,616 (GRCm39) |
unclassified |
probably benign |
|
R9178:Alkbh8
|
UTSW |
9 |
3,338,448 (GRCm39) |
splice site |
probably benign |
|
R9363:Alkbh8
|
UTSW |
9 |
3,385,576 (GRCm39) |
missense |
probably damaging |
1.00 |
R9512:Alkbh8
|
UTSW |
9 |
3,367,959 (GRCm39) |
missense |
probably damaging |
1.00 |
R9723:Alkbh8
|
UTSW |
9 |
3,385,283 (GRCm39) |
missense |
probably benign |
0.00 |
X0028:Alkbh8
|
UTSW |
9 |
3,369,767 (GRCm39) |
missense |
probably benign |
0.01 |
X0062:Alkbh8
|
UTSW |
9 |
3,359,532 (GRCm39) |
missense |
probably null |
1.00 |
Z1176:Alkbh8
|
UTSW |
9 |
3,345,820 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Posted On |
2016-08-02 |