Incidental Mutation 'R9363:Alkbh8'
| ID |
708790 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Alkbh8
|
| Ensembl Gene |
ENSMUSG00000025899 |
| Gene Name |
alkB homolog 8, tRNA methyltransferase |
| Synonyms |
Abh8, 8030431D03Rik, 4930562C03Rik, 9430088N01Rik |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R9363 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
3335151-3391154 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 3385576 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Serine
at position 658
(C658S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000061511
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000053407]
[ENSMUST00000165105]
[ENSMUST00000211933]
[ENSMUST00000212294]
[ENSMUST00000212358]
|
| AlphaFold |
Q80Y20 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000053407
AA Change: C658S
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000061511
Gene: ENSMUSG00000025899
AA Change: C658S
| 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 damaging
Transcript: ENSMUST00000165105
AA Change: C658S
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000125996
Gene: ENSMUSG00000025899
AA Change: C658S
| 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 |
probably damaging
Transcript: ENSMUST00000211933
AA Change: C658S
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000212294
AA Change: C623S
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000212358
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.2%
|
| Validation Efficiency |
100% (40/40) |
| 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: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abi3bp |
T |
A |
16: 56,438,575 (GRCm39) |
|
probably null |
Het |
| Alkbh1 |
A |
T |
12: 87,487,080 (GRCm39) |
Y96* |
probably null |
Het |
| Bean1 |
CT |
C |
8: 104,908,664 (GRCm39) |
|
probably null |
Het |
| Blm |
T |
C |
7: 80,108,663 (GRCm39) |
Y1327C |
probably damaging |
Het |
| Ccdc28a |
C |
T |
10: 18,094,050 (GRCm39) |
D190N |
unknown |
Het |
| Chdh |
A |
G |
14: 29,753,310 (GRCm39) |
E73G |
probably damaging |
Het |
| Dab2 |
C |
T |
15: 6,460,481 (GRCm39) |
P463L |
probably benign |
Het |
| Dcun1d2 |
A |
G |
8: 13,309,014 (GRCm39) |
Y184H |
probably benign |
Het |
| Dst |
T |
C |
1: 34,235,060 (GRCm39) |
L3535P |
probably damaging |
Het |
| Egr3 |
A |
G |
14: 70,316,761 (GRCm39) |
I153V |
possibly damaging |
Het |
| Fktn |
G |
A |
4: 53,734,854 (GRCm39) |
G125D |
probably benign |
Het |
| Hcfc2 |
C |
T |
10: 82,574,258 (GRCm39) |
P144L |
probably damaging |
Het |
| Jkampl |
T |
A |
6: 73,446,487 (GRCm39) |
I21F |
possibly damaging |
Het |
| Mdc1 |
C |
A |
17: 36,162,019 (GRCm39) |
Q942K |
probably benign |
Het |
| Med15 |
C |
T |
16: 17,489,414 (GRCm39) |
V387I |
unknown |
Het |
| Muc4 |
C |
T |
16: 32,576,992 (GRCm39) |
S94L |
|
Het |
| Or5ak23 |
T |
A |
2: 85,244,993 (GRCm39) |
I77F |
probably damaging |
Het |
| Otud3 |
G |
T |
4: 138,623,133 (GRCm39) |
N369K |
probably benign |
Het |
| Parp14 |
C |
T |
16: 35,678,586 (GRCm39) |
E461K |
possibly damaging |
Het |
| Paxbp1 |
T |
A |
16: 90,827,395 (GRCm39) |
Q480L |
probably damaging |
Het |
| Polr3a |
G |
A |
14: 24,500,831 (GRCm39) |
A1319V |
probably damaging |
Het |
| Pramel39-ps |
G |
T |
5: 94,451,001 (GRCm39) |
P375H |
probably damaging |
Het |
| Prkg2 |
A |
T |
5: 99,172,257 (GRCm39) |
S153T |
probably benign |
Het |
| Scara3 |
T |
C |
14: 66,168,720 (GRCm39) |
D299G |
probably benign |
Het |
| Scube1 |
C |
A |
15: 83,499,080 (GRCm39) |
E712* |
probably null |
Het |
| Setd4 |
T |
A |
16: 93,388,009 (GRCm39) |
E159V |
probably benign |
Het |
| Slc15a2 |
T |
A |
16: 36,572,672 (GRCm39) |
I670F |
possibly damaging |
Het |
| Slc4a11 |
C |
T |
2: 130,533,664 (GRCm39) |
A100T |
probably damaging |
Het |
| Smok2b |
G |
A |
17: 13,453,637 (GRCm39) |
|
probably null |
Het |
| Snx18 |
G |
A |
13: 113,754,732 (GRCm39) |
P67L |
probably benign |
Het |
| St3gal5 |
A |
T |
6: 72,119,301 (GRCm39) |
K165* |
probably null |
Het |
| Sun5 |
A |
G |
2: 153,700,365 (GRCm39) |
I294T |
probably benign |
Het |
| Svil |
A |
G |
18: 5,037,155 (GRCm39) |
K37E |
probably benign |
Het |
| Tmem104 |
T |
C |
11: 115,134,691 (GRCm39) |
I409T |
probably benign |
Het |
| Tnxb |
T |
C |
17: 34,917,294 (GRCm39) |
Y2230H |
possibly damaging |
Het |
| Trps1 |
A |
G |
15: 50,524,676 (GRCm39) |
S1085P |
probably damaging |
Het |
| Ttn |
A |
T |
2: 76,612,592 (GRCm39) |
N17162K |
probably damaging |
Het |
| Ugt1a7c |
T |
A |
1: 88,023,616 (GRCm39) |
F258L |
probably damaging |
Het |
| Vmn2r102 |
C |
T |
17: 19,897,614 (GRCm39) |
H210Y |
probably benign |
Het |
| Vmn2r75 |
A |
T |
7: 85,815,423 (GRCm39) |
V147E |
probably benign |
Het |
| Zhx3 |
G |
A |
2: 160,621,785 (GRCm39) |
A794V |
probably benign |
Het |
| Zscan2 |
A |
G |
7: 80,525,331 (GRCm39) |
T351A |
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 |
|
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 |
|
|
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 |
|
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- CATTCCCAAGATGTGCTGGTTC -3'
(R):5'- AGAGGAACCTACGTTTATGAAGTC -3'
Sequencing Primer
(F):5'- TGGTTCCCTGGCACCTCAAAAG -3'
(R):5'- GTTTCCTTTTCAAAAAGAGATTG -3'
|
| Posted On |
2022-04-18 |
Incidental Mutation