Incidental Mutation 'R0046:Alkbh8'
ID 18537
Institutional Source Beutler Lab
Gene Symbol Alkbh8
Ensembl Gene ENSMUSG00000025899
Gene Name alkB homolog 8, tRNA methyltransferase
Synonyms Abh8, 8030431D03Rik, 4930562C03Rik, 9430088N01Rik
MMRRC Submission 038340-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0046 (G1)
Quality Score
Status Validated
Chromosome 9
Chromosomal Location 3335151-3391154 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 3343247 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 46 (E46G)
Ref Sequence ENSEMBL: ENSMUSP00000148467 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000053407] [ENSMUST00000165105] [ENSMUST00000211933] [ENSMUST00000212154] [ENSMUST00000212294] [ENSMUST00000212666] [ENSMUST00000212358] [ENSMUST00000212817]
AlphaFold Q80Y20
Predicted Effect probably benign
Transcript: ENSMUST00000053407
AA Change: E121G

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000061511
Gene: ENSMUSG00000025899
AA Change: E121G

DomainStartEndE-ValueType
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: E121G

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000125996
Gene: ENSMUSG00000025899
AA Change: E121G

DomainStartEndE-ValueType
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
AA Change: E121G

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
Predicted Effect possibly damaging
Transcript: ENSMUST00000212154
AA Change: E121G

PolyPhen 2 Score 0.928 (Sensitivity: 0.81; Specificity: 0.94)
Predicted Effect probably benign
Transcript: ENSMUST00000212294
AA Change: E121G

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
Predicted Effect probably damaging
Transcript: ENSMUST00000212666
AA Change: E46G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably benign
Transcript: ENSMUST00000212358
AA Change: E121G

PolyPhen 2 Score 0.169 (Sensitivity: 0.92; Specificity: 0.87)
Predicted Effect probably benign
Transcript: ENSMUST00000212817
Meta Mutation Damage Score 0.1484 question?
Coding Region Coverage
  • 1x: 89.2%
  • 3x: 86.2%
  • 10x: 78.3%
  • 20x: 64.0%
Validation Efficiency 98% (86/88)
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: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Actl7a A T 4: 56,743,877 (GRCm39) K135* probably null Het
Adamts16 A G 13: 70,911,579 (GRCm39) S871P probably benign Het
Adcy10 A T 1: 165,367,403 (GRCm39) I558F probably damaging Het
Adsl T G 15: 80,846,989 (GRCm39) probably null Het
Aldob T C 4: 49,543,842 (GRCm39) I47V possibly damaging Het
Atp1a4 A T 1: 172,067,664 (GRCm39) L533Q probably benign Het
Auts2 T C 5: 131,799,624 (GRCm39) noncoding transcript Het
B3gnt3 T C 8: 72,145,567 (GRCm39) Y267C probably damaging Het
Ccdc39 A G 3: 33,898,301 (GRCm39) F15L possibly damaging Het
Cntnap5c T G 17: 58,666,295 (GRCm39) D1108E probably benign Het
Col14a1 G A 15: 55,272,359 (GRCm39) probably benign Het
Col9a3 G A 2: 180,251,280 (GRCm39) A317T possibly damaging Het
Cpt1c A T 7: 44,609,256 (GRCm39) probably benign Het
Cpt2 A G 4: 107,761,559 (GRCm39) probably null Het
Crebrf T A 17: 26,982,308 (GRCm39) L565M probably damaging Het
Dmxl1 T A 18: 50,011,149 (GRCm39) V1102E probably benign Het
Dock4 G A 12: 40,787,359 (GRCm39) probably benign Het
Dpp3 G T 19: 4,964,671 (GRCm39) N545K probably damaging Het
Elmo2 T A 2: 165,140,646 (GRCm39) N275I probably damaging Het
Farp1 A G 14: 121,492,925 (GRCm39) K509R probably benign Het
Flg T A 3: 93,185,028 (GRCm39) probably benign Het
Gas2l2 A T 11: 83,312,736 (GRCm39) W859R probably damaging Het
Gatm T C 2: 122,431,225 (GRCm39) D254G probably damaging Het
Gjd4 T A 18: 9,280,998 (GRCm39) I27F probably damaging Het
Gm19410 A G 8: 36,269,799 (GRCm39) E1148G probably benign Het
Haus5 C T 7: 30,353,605 (GRCm39) V591I probably benign Het
Kcnab3 G A 11: 69,221,053 (GRCm39) probably null Het
Limk1 T C 5: 134,701,615 (GRCm39) Y96C probably damaging Het
Lrp2bp T A 8: 46,466,192 (GRCm39) Y100* probably null Het
Ly75 A T 2: 60,169,801 (GRCm39) probably benign Het
Mamstr T G 7: 45,291,194 (GRCm39) probably benign Het
Man1a A G 10: 53,795,283 (GRCm39) Y657H probably damaging Het
Marf1 G A 16: 13,929,591 (GRCm39) P1672S possibly damaging Het
Mboat7 T C 7: 3,686,817 (GRCm39) Y341C probably damaging Het
Nhsl1 A T 10: 18,401,417 (GRCm39) N881I probably damaging Het
Nox3 T C 17: 3,733,236 (GRCm39) Y225C probably benign Het
Or4c109 C T 2: 88,817,693 (GRCm39) M284I probably benign Het
Or4c35 C T 2: 89,808,851 (GRCm39) T243I probably damaging Het
Pclo C T 5: 14,590,493 (GRCm39) T931M unknown Het
Pfas G T 11: 68,881,293 (GRCm39) R1025S probably benign Het
Prg4 T C 1: 150,331,837 (GRCm39) T279A possibly damaging Het
Psma1 A T 7: 113,866,440 (GRCm39) probably benign Het
Rab11fip1 A G 8: 27,643,149 (GRCm39) L550P probably damaging Het
Rgs12 T A 5: 35,122,664 (GRCm39) I149N probably damaging Het
Rmnd5a T C 6: 71,376,215 (GRCm39) H195R probably damaging Het
Rnf17 T C 14: 56,708,830 (GRCm39) L750P probably damaging Het
Rtcb T C 10: 85,793,520 (GRCm39) N18D probably benign Het
Seh1l T C 18: 67,925,086 (GRCm39) probably null Het
Sptbn2 T C 19: 4,795,405 (GRCm39) probably benign Het
Stag3 C T 5: 138,281,285 (GRCm39) probably benign Het
Taar2 G A 10: 23,817,393 (GRCm39) R311H probably benign Het
Taok3 C T 5: 117,410,294 (GRCm39) Q829* probably null Het
Tsbp1 T C 17: 34,679,095 (GRCm39) probably null Het
Ttn A G 2: 76,781,886 (GRCm39) probably benign Het
Unc79 A G 12: 103,091,940 (GRCm39) E1756G probably damaging Het
Usp35 A T 7: 96,962,804 (GRCm39) probably null Het
Zbtb40 A G 4: 136,714,589 (GRCm39) C1067R probably damaging Het
Other mutations in Alkbh8
AlleleSourceChrCoordTypePredicted EffectPPH 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
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 2013-03-25