Incidental Mutation 'R1331:Alkbh8'
| ID |
156195 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Alkbh8
|
| Ensembl Gene |
ENSMUSG00000025899 |
| Gene Name |
alkB homolog 8, tRNA methyltransferase |
| Synonyms |
Abh8, 8030431D03Rik, 4930562C03Rik, 9430088N01Rik |
| MMRRC Submission |
039396-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1331 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
3335151-3391154 bp(+) (GRCm39) |
| Type of Mutation |
splice site (3300 bp from exon) |
| DNA Base Change (assembly) |
T to A
at 3347916 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000148467
(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 |
noncoding transcript
Transcript: ENSMUST00000083022
|
| 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 null
Transcript: ENSMUST00000212154
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000212294
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000212358
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000212817
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000212666
|
| Meta Mutation Damage Score |
0.9755 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.2%
- 10x: 96.2%
- 20x: 93.0%
|
| Validation Efficiency |
100% (59/59) |
| 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: 53 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acap1 |
A |
T |
11: 69,773,202 (GRCm39) |
|
probably null |
Het |
| Acat1 |
T |
C |
9: 53,496,183 (GRCm39) |
D318G |
probably benign |
Het |
| Ahdc1 |
T |
C |
4: 132,791,002 (GRCm39) |
F748L |
probably benign |
Het |
| Arhgef26 |
A |
G |
3: 62,247,449 (GRCm39) |
T178A |
probably benign |
Het |
| Bid |
C |
T |
6: 120,874,216 (GRCm39) |
A110T |
possibly damaging |
Het |
| Ccdc180 |
T |
C |
4: 45,909,359 (GRCm39) |
V509A |
possibly damaging |
Het |
| Ccdc39 |
T |
C |
3: 33,869,634 (GRCm39) |
E731G |
probably benign |
Het |
| Cenpf |
A |
G |
1: 189,374,998 (GRCm39) |
V2931A |
probably damaging |
Het |
| Cobl |
A |
T |
11: 12,325,853 (GRCm39) |
N207K |
probably damaging |
Het |
| Col14a1 |
T |
A |
15: 55,273,584 (GRCm39) |
W718R |
unknown |
Het |
| Dnah7a |
A |
G |
1: 53,507,828 (GRCm39) |
I3081T |
probably damaging |
Het |
| Dync1h1 |
T |
C |
12: 110,615,698 (GRCm39) |
V2977A |
probably damaging |
Het |
| Ephb4 |
A |
G |
5: 137,364,796 (GRCm39) |
|
probably benign |
Het |
| Eri3 |
T |
C |
4: 117,422,104 (GRCm39) |
|
probably benign |
Het |
| Fbxo24 |
A |
G |
5: 137,617,891 (GRCm39) |
V291A |
probably damaging |
Het |
| Glra1 |
A |
C |
11: 55,405,896 (GRCm39) |
S282A |
probably benign |
Het |
| Gm7589 |
C |
A |
9: 59,053,325 (GRCm39) |
|
noncoding transcript |
Het |
| H6pd |
T |
C |
4: 150,066,872 (GRCm39) |
N505D |
probably benign |
Het |
| Hdlbp |
T |
A |
1: 93,348,853 (GRCm39) |
N566Y |
probably damaging |
Het |
| Hsp90aa1 |
C |
A |
12: 110,659,254 (GRCm39) |
K514N |
probably damaging |
Het |
| Impdh1 |
A |
T |
6: 29,206,477 (GRCm39) |
V120D |
probably damaging |
Het |
| Katnip |
A |
G |
7: 125,465,627 (GRCm39) |
T1360A |
probably benign |
Het |
| Loxhd1 |
C |
T |
18: 77,490,632 (GRCm39) |
P1411S |
possibly damaging |
Het |
| Lpl |
A |
G |
8: 69,349,281 (GRCm39) |
E269G |
probably damaging |
Het |
| Map1a |
G |
T |
2: 121,136,701 (GRCm39) |
E2268* |
probably null |
Het |
| Mark1 |
T |
C |
1: 184,660,245 (GRCm39) |
E137G |
probably damaging |
Het |
| Mki67 |
A |
T |
7: 135,300,005 (GRCm39) |
S1676R |
possibly damaging |
Het |
| Mogat2 |
T |
C |
7: 98,872,722 (GRCm39) |
Y154C |
possibly damaging |
Het |
| Myo18a |
C |
G |
11: 77,732,405 (GRCm39) |
I859M |
probably benign |
Het |
| Myo7a |
A |
G |
7: 97,756,215 (GRCm39) |
V39A |
probably benign |
Het |
| Nedd4 |
T |
A |
9: 72,584,668 (GRCm39) |
I123N |
probably damaging |
Het |
| Obscn |
A |
G |
11: 58,977,754 (GRCm39) |
V1966A |
probably benign |
Het |
| Or7g33 |
T |
C |
9: 19,448,842 (GRCm39) |
N128S |
probably benign |
Het |
| Orc3 |
T |
G |
4: 34,599,748 (GRCm39) |
N77T |
probably benign |
Het |
| Penk |
A |
G |
4: 4,134,287 (GRCm39) |
M120T |
probably benign |
Het |
| Phf7 |
G |
A |
14: 30,962,362 (GRCm39) |
Q148* |
probably null |
Het |
| Pkhd1l1 |
G |
A |
15: 44,368,943 (GRCm39) |
V863I |
probably damaging |
Het |
| Pkhd1l1 |
C |
T |
15: 44,452,993 (GRCm39) |
R3973C |
probably damaging |
Het |
| Polq |
C |
T |
16: 36,862,109 (GRCm39) |
T264M |
probably damaging |
Het |
| Ptprb |
A |
T |
10: 116,203,437 (GRCm39) |
T2070S |
probably damaging |
Het |
| Ralgapb |
T |
C |
2: 158,272,453 (GRCm39) |
F169S |
probably damaging |
Het |
| Rapgef5 |
G |
T |
12: 117,685,084 (GRCm39) |
A278S |
probably benign |
Het |
| Ripor2 |
G |
T |
13: 24,861,824 (GRCm39) |
E203* |
probably null |
Het |
| Setx |
T |
C |
2: 29,069,698 (GRCm39) |
L2501P |
probably benign |
Het |
| Sh3bgrl2 |
C |
T |
9: 83,459,684 (GRCm39) |
|
probably benign |
Het |
| Slc35b1 |
T |
A |
11: 95,276,689 (GRCm39) |
V56D |
probably damaging |
Het |
| Slc45a4 |
C |
T |
15: 73,458,596 (GRCm39) |
D326N |
probably benign |
Het |
| Stard9 |
C |
A |
2: 120,504,117 (GRCm39) |
S221R |
probably damaging |
Het |
| Stat4 |
T |
A |
1: 52,053,086 (GRCm39) |
V89D |
probably benign |
Het |
| Tek |
T |
A |
4: 94,627,943 (GRCm39) |
|
probably benign |
Het |
| Tert |
T |
A |
13: 73,796,473 (GRCm39) |
F1068Y |
probably damaging |
Het |
| Trim33 |
T |
A |
3: 103,217,670 (GRCm39) |
I205K |
probably damaging |
Het |
| Vmn1r212 |
A |
T |
13: 23,067,562 (GRCm39) |
I257K |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- GGGTCAGTCAAGACACAAGTACATGAAA -3'
(R):5'- TCTATCAGTGGacctacacagcagc -3'
Sequencing Primer
(F):5'- GCCTGTGGACTTATCACTtttatttg -3'
(R):5'- AGGGCACTAAGGACACATGT -3'
|
| Posted On |
2014-02-11 |
Incidental Mutation