Incidental Mutation 'IGL02398:Alkbh8'
| ID |
291773 |
| 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 # |
IGL02398
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
9 |
| Chromosomal Location |
3335151-3391154 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 3345870 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Proline to Serine
at position 197
(P197S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000148380
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000053407]
[ENSMUST00000165105]
[ENSMUST00000211933]
[ENSMUST00000212154]
[ENSMUST00000212294]
[ENSMUST00000212358]
[ENSMUST00000212666]
[ENSMUST00000212817]
|
| AlphaFold |
Q80Y20 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000053407
AA Change: P197S
PolyPhen 2
Score 0.773 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000061511
Gene: ENSMUSG00000025899
AA Change: P197S
| 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 |
possibly damaging
Transcript: ENSMUST00000165105
AA Change: P197S
PolyPhen 2
Score 0.773 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000125996
Gene: ENSMUSG00000025899
AA Change: P197S
| 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 |
possibly damaging
Transcript: ENSMUST00000211933
AA Change: P197S
PolyPhen 2
Score 0.773 (Sensitivity: 0.85; Specificity: 0.92)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000212154
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000212294
AA Change: P197S
PolyPhen 2
Score 0.773 (Sensitivity: 0.85; Specificity: 0.92)
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000212358
AA Change: P197S
PolyPhen 2
Score 0.732 (Sensitivity: 0.86; Specificity: 0.92)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000212666
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000212817
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| 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: 51 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgre1 |
T |
A |
17: 57,709,824 (GRCm39) |
C160* |
probably null |
Het |
| Ankef1 |
A |
C |
2: 136,397,702 (GRCm39) |
N761T |
probably damaging |
Het |
| Ankrd7 |
A |
G |
6: 18,866,696 (GRCm39) |
Y72C |
probably damaging |
Het |
| Cfap36 |
T |
G |
11: 29,172,833 (GRCm39) |
M231L |
probably benign |
Het |
| Cog7 |
A |
G |
7: 121,563,432 (GRCm39) |
C227R |
probably damaging |
Het |
| Csgalnact1 |
C |
A |
8: 68,854,144 (GRCm39) |
G219V |
probably damaging |
Het |
| Cspg4 |
A |
T |
9: 56,793,970 (GRCm39) |
E568D |
probably benign |
Het |
| Cwc27 |
G |
A |
13: 104,940,762 (GRCm39) |
T199I |
possibly damaging |
Het |
| Cyp26a1 |
A |
G |
19: 37,688,467 (GRCm39) |
I330V |
probably benign |
Het |
| Dcaf7 |
T |
C |
11: 105,944,579 (GRCm39) |
V254A |
probably benign |
Het |
| Dhrs7 |
G |
A |
12: 72,711,466 (GRCm39) |
R24C |
probably damaging |
Het |
| Ehmt2 |
T |
A |
17: 35,127,455 (GRCm39) |
C838S |
probably damaging |
Het |
| Fn1 |
A |
T |
1: 71,657,829 (GRCm39) |
|
probably null |
Het |
| Gjb3 |
T |
A |
4: 127,219,855 (GRCm39) |
S226C |
probably benign |
Het |
| Gm14496 |
A |
G |
2: 181,637,963 (GRCm39) |
I346V |
probably benign |
Het |
| Gm8050 |
T |
C |
14: 17,930,894 (GRCm39) |
E172G |
probably damaging |
Het |
| Higd1a |
G |
A |
9: 121,681,590 (GRCm39) |
R22W |
probably damaging |
Het |
| Hmcn1 |
A |
G |
1: 150,678,648 (GRCm39) |
L491S |
possibly damaging |
Het |
| Igsf9b |
T |
C |
9: 27,244,426 (GRCm39) |
S794P |
possibly damaging |
Het |
| Irgm2 |
A |
T |
11: 58,110,755 (GRCm39) |
I161F |
probably damaging |
Het |
| Lrp8 |
G |
T |
4: 107,704,691 (GRCm39) |
V304F |
probably damaging |
Het |
| Lrp8 |
C |
A |
4: 107,726,245 (GRCm39) |
S850R |
probably damaging |
Het |
| Lrrc9 |
A |
T |
12: 72,513,677 (GRCm39) |
M513L |
probably benign |
Het |
| Myo18b |
A |
T |
5: 112,978,178 (GRCm39) |
V1248E |
possibly damaging |
Het |
| Myo1b |
A |
T |
1: 51,797,050 (GRCm39) |
N945K |
probably damaging |
Het |
| Nipbl |
A |
G |
15: 8,356,574 (GRCm39) |
L1604P |
probably damaging |
Het |
| Oas1f |
A |
T |
5: 120,989,568 (GRCm39) |
Y169F |
probably benign |
Het |
| Ogfod3 |
G |
A |
11: 121,093,851 (GRCm39) |
T53I |
probably benign |
Het |
| Or2a56 |
A |
T |
6: 42,933,046 (GRCm39) |
I205F |
probably benign |
Het |
| Or52r1c |
G |
A |
7: 102,735,313 (GRCm39) |
C191Y |
probably damaging |
Het |
| Or8k22 |
A |
T |
2: 86,162,868 (GRCm39) |
Y277* |
probably null |
Het |
| Parp8 |
A |
G |
13: 117,047,399 (GRCm39) |
|
probably null |
Het |
| Pde4dip |
T |
C |
3: 97,674,097 (GRCm39) |
Y273C |
probably benign |
Het |
| Pgbd5 |
C |
T |
8: 125,111,257 (GRCm39) |
A54T |
probably damaging |
Het |
| Pglyrp4 |
G |
A |
3: 90,646,424 (GRCm39) |
|
probably benign |
Het |
| Piezo1 |
A |
T |
8: 123,213,302 (GRCm39) |
S1819R |
probably benign |
Het |
| Polr1a |
T |
C |
6: 71,913,540 (GRCm39) |
|
probably benign |
Het |
| Polr1b |
A |
G |
2: 128,944,886 (GRCm39) |
I61V |
probably benign |
Het |
| Prlhr |
G |
T |
19: 60,455,753 (GRCm39) |
A271E |
probably damaging |
Het |
| Rad23b |
C |
T |
4: 55,350,360 (GRCm39) |
|
probably benign |
Het |
| Rad51ap1 |
A |
T |
6: 126,905,114 (GRCm39) |
S132R |
probably damaging |
Het |
| Ros1 |
T |
A |
10: 52,020,980 (GRCm39) |
|
probably benign |
Het |
| Ryr3 |
T |
C |
2: 112,677,767 (GRCm39) |
D1327G |
probably benign |
Het |
| Slit1 |
A |
C |
19: 41,590,676 (GRCm39) |
V1332G |
probably damaging |
Het |
| Spin2h |
A |
G |
X: 32,162,153 (GRCm39) |
D224G |
probably damaging |
Het |
| Tmem178b |
A |
G |
6: 40,184,461 (GRCm39) |
M120V |
probably damaging |
Het |
| Trim25 |
T |
C |
11: 88,890,630 (GRCm39) |
C106R |
probably damaging |
Het |
| Trim35 |
A |
G |
14: 66,546,697 (GRCm39) |
Y488C |
probably damaging |
Het |
| Tsc2 |
A |
T |
17: 24,840,703 (GRCm39) |
H326Q |
probably damaging |
Het |
| Yap1 |
A |
T |
9: 7,950,536 (GRCm39) |
I315K |
probably benign |
Het |
| Zfp654 |
A |
G |
16: 64,606,381 (GRCm39) |
V607A |
probably benign |
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 |
|
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 |
|
|
IGL03055:Alkbh8
|
APN |
9 |
3,345,882 (GRCm39) |
splice site |
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 |
2015-04-16 |
Incidental Mutation