Incidental Mutation 'R5403:Alkbh8'
| ID |
430111 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Alkbh8
|
| Ensembl Gene |
ENSMUSG00000025899 |
| Gene Name |
alkB homolog 8, tRNA methyltransferase |
| Synonyms |
Abh8, 8030431D03Rik, 4930562C03Rik, 9430088N01Rik |
| MMRRC Submission |
042974-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5403 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
9 |
| Chromosomal Location |
3335151-3391154 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 3385318 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Glutamic Acid
at position 537
(K537E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000148380
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000053407]
[ENSMUST00000165105]
[ENSMUST00000211933]
[ENSMUST00000212294]
[ENSMUST00000212358]
|
| AlphaFold |
Q80Y20 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000053407
AA Change: K572E
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000061511
Gene: ENSMUSG00000025899
AA Change: K572E
| 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
AA Change: K572E
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000125996
Gene: ENSMUSG00000025899
AA Change: K572E
| 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 benign
Transcript: ENSMUST00000211933
AA Change: K572E
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000212294
AA Change: K537E
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000212358
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000212955
|
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.7%
|
| 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: 52 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acsbg3 |
G |
T |
17: 57,183,221 (GRCm39) |
|
probably benign |
Het |
| Adamts6 |
A |
G |
13: 104,489,323 (GRCm39) |
D392G |
possibly damaging |
Het |
| Adcy8 |
C |
T |
15: 64,588,001 (GRCm39) |
V929I |
probably benign |
Het |
| Anp32a |
A |
T |
9: 62,249,275 (GRCm39) |
I16F |
possibly damaging |
Het |
| Asb18 |
T |
C |
1: 89,942,110 (GRCm39) |
T64A |
probably benign |
Het |
| Bpifb4 |
A |
T |
2: 153,785,912 (GRCm39) |
I17F |
probably damaging |
Het |
| Brd7 |
G |
T |
8: 89,084,169 (GRCm39) |
Q148K |
probably damaging |
Het |
| Brinp1 |
A |
G |
4: 68,711,201 (GRCm39) |
W336R |
probably benign |
Het |
| Ccdc88b |
T |
A |
19: 6,835,108 (GRCm39) |
T38S |
unknown |
Het |
| Cd46 |
C |
T |
1: 194,744,719 (GRCm39) |
V340I |
possibly damaging |
Het |
| Cdr2 |
G |
A |
7: 120,557,968 (GRCm39) |
Q186* |
probably null |
Het |
| Ces1e |
T |
G |
8: 93,935,240 (GRCm39) |
D404A |
probably benign |
Het |
| Chd3 |
A |
T |
11: 69,239,895 (GRCm39) |
|
probably null |
Het |
| Cmtm1 |
CGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGT |
CGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGT |
8: 105,036,102 (GRCm39) |
|
probably benign |
Het |
| Cntnap3 |
G |
A |
13: 64,909,792 (GRCm39) |
T771I |
possibly damaging |
Het |
| Cops8 |
C |
T |
1: 90,534,342 (GRCm39) |
|
probably benign |
Het |
| Csmd2 |
C |
T |
4: 128,380,677 (GRCm39) |
R2078C |
probably benign |
Het |
| Ddx50 |
A |
G |
10: 62,482,809 (GRCm39) |
S87P |
probably benign |
Het |
| Dennd2b |
A |
G |
7: 109,156,112 (GRCm39) |
S213P |
probably damaging |
Het |
| Dlg2 |
A |
G |
7: 92,080,210 (GRCm39) |
T598A |
probably damaging |
Het |
| Dnah8 |
G |
A |
17: 30,967,542 (GRCm39) |
D2585N |
probably benign |
Het |
| Epha6 |
A |
T |
16: 59,595,933 (GRCm39) |
D919E |
probably damaging |
Het |
| Fndc9 |
C |
T |
11: 46,128,541 (GRCm39) |
S20L |
probably benign |
Het |
| Gpx6 |
A |
G |
13: 21,501,813 (GRCm39) |
E145G |
probably damaging |
Het |
| Hc |
A |
G |
2: 34,947,446 (GRCm39) |
Y23H |
probably damaging |
Het |
| Insyn2b |
A |
T |
11: 34,353,058 (GRCm39) |
T367S |
probably benign |
Het |
| Jmy |
G |
T |
13: 93,577,904 (GRCm39) |
Q755K |
probably benign |
Het |
| Krtap4-7 |
A |
T |
11: 99,534,540 (GRCm39) |
S108T |
unknown |
Het |
| Mgat5b |
T |
G |
11: 116,839,483 (GRCm39) |
I333S |
probably benign |
Het |
| Mrtfb |
A |
G |
16: 13,218,877 (GRCm39) |
T519A |
probably damaging |
Het |
| Naip6 |
G |
A |
13: 100,436,585 (GRCm39) |
A646V |
probably benign |
Het |
| Opn4 |
T |
C |
14: 34,314,894 (GRCm39) |
T460A |
probably benign |
Het |
| Or6b2 |
A |
T |
1: 92,408,019 (GRCm39) |
V108E |
possibly damaging |
Het |
| Or8g22 |
G |
T |
9: 38,957,999 (GRCm39) |
P239T |
probably damaging |
Het |
| Otogl |
T |
A |
10: 107,644,617 (GRCm39) |
M1210L |
probably benign |
Het |
| Pheta1 |
A |
G |
5: 121,990,794 (GRCm39) |
E52G |
possibly damaging |
Het |
| Phf24 |
A |
T |
4: 42,933,831 (GRCm39) |
|
probably null |
Het |
| Ppargc1a |
G |
A |
5: 51,620,167 (GRCm39) |
|
probably benign |
Het |
| Ptprd |
G |
A |
4: 75,872,405 (GRCm39) |
R1355* |
probably null |
Het |
| Rad50 |
A |
G |
11: 53,586,108 (GRCm39) |
|
probably null |
Het |
| Robo4 |
CGG |
CG |
9: 37,322,786 (GRCm39) |
|
probably null |
Het |
| Rsf1 |
GCG |
GCGACGGCGACG |
7: 97,229,114 (GRCm39) |
|
probably benign |
Het |
| Tbcd |
C |
A |
11: 121,451,569 (GRCm39) |
N546K |
probably damaging |
Het |
| Tenm4 |
A |
G |
7: 96,538,034 (GRCm39) |
D1832G |
probably damaging |
Het |
| Tfap2e |
T |
C |
4: 126,628,439 (GRCm39) |
I172M |
probably benign |
Het |
| Tnip2 |
A |
G |
5: 34,671,108 (GRCm39) |
L45P |
probably damaging |
Het |
| Ttc3 |
T |
C |
16: 94,260,703 (GRCm39) |
V1396A |
probably benign |
Het |
| Ube2o |
A |
T |
11: 116,439,633 (GRCm39) |
I179N |
possibly damaging |
Het |
| Usp17le |
T |
C |
7: 104,418,441 (GRCm39) |
I234V |
probably damaging |
Het |
| Zfp106 |
T |
C |
2: 120,365,262 (GRCm39) |
T382A |
probably benign |
Het |
| Zfp607a |
A |
G |
7: 27,578,744 (GRCm39) |
K605E |
possibly damaging |
Het |
| Zmynd10 |
T |
A |
9: 107,427,785 (GRCm39) |
L363H |
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 |
|
|
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 |
|
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'- GGCCCTCATTTATGTCTGGG -3'
(R):5'- AGCTTCCAATTCTCCATCACAG -3'
Sequencing Primer
(F):5'- CCTCATTTATGTCTGGGCAATGGAAC -3'
(R):5'- ATTCTCCATCACAGAAAACATGG -3'
|
| Posted On |
2016-09-06 |
Incidental Mutation