Incidental Mutation 'IGL01419:Alkbh8'
ID80339
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Alkbh8
Ensembl Gene ENSMUSG00000025899
Gene NamealkB homolog 8, tRNA methyltransferase
Synonyms4930562C03Rik, Abh8, 9430088N01Rik, 8030431D03Rik
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL01419
Quality Score
Status
Chromosome9
Chromosomal Location3335140-3391154 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 3385354 bp
ZygosityHeterozygous
Amino Acid Change Arginine to Glycine at position 584 (R584G)
Ref Sequence ENSEMBL: ENSMUSP00000148653 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000053407] [ENSMUST00000165105] [ENSMUST00000211933] [ENSMUST00000212294] [ENSMUST00000212358]
Predicted Effect probably damaging
Transcript: ENSMUST00000053407
AA Change: R584G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000061511
Gene: ENSMUSG00000025899
AA Change: R584G

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 damaging
Transcript: ENSMUST00000165105
AA Change: R584G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000125996
Gene: ENSMUSG00000025899
AA Change: R584G

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 probably damaging
Transcript: ENSMUST00000211933
AA Change: R584G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably damaging
Transcript: ENSMUST00000212294
AA Change: R549G

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
Predicted Effect probably benign
Transcript: ENSMUST00000212358
Predicted Effect noncoding transcript
Transcript: ENSMUST00000212955
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: 61 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4932438A13Rik T C 3: 37,048,121 S1323P probably damaging Het
Abca2 A T 2: 25,437,514 T672S probably damaging Het
Adamts14 A T 10: 61,205,542 probably benign Het
Adgrv1 T C 13: 81,557,158 E791G probably damaging Het
Apob A T 12: 8,002,251 I1218F probably damaging Het
Atp5a1 T C 18: 77,777,533 S52P probably damaging Het
B4galnt3 A G 6: 120,215,390 S462P possibly damaging Het
Bdkrb1 A G 12: 105,604,781 H202R possibly damaging Het
Cd300lf T C 11: 115,126,354 K48E probably benign Het
Chuk A T 19: 44,096,981 I242K probably damaging Het
Csde1 A G 3: 103,038,770 T27A probably damaging Het
D930048N14Rik C T 11: 51,654,776 probably benign Het
Depdc7 A T 2: 104,722,110 Y451N possibly damaging Het
Diaph3 C A 14: 86,965,553 G623* probably null Het
Dlc1 T C 8: 36,850,217 T435A probably benign Het
Dock8 A G 19: 25,119,452 S575G probably benign Het
Fbxw22 T A 9: 109,381,722 Y407F probably benign Het
Fzd4 C A 7: 89,407,735 A330E probably damaging Het
Gm17415 A G 1: 93,421,950 probably benign Het
Gm4788 T C 1: 139,739,644 probably null Het
Gnat1 C T 9: 107,679,434 probably null Het
Gtf3c4 T C 2: 28,835,069 Y76C probably damaging Het
Heatr5b G A 17: 78,796,510 H1079Y probably benign Het
Helz T G 11: 107,686,514 I1897S unknown Het
Hspa12a T C 19: 58,828,249 probably null Het
Kcne1 G T 16: 92,348,646 F103L probably benign Het
Lrrc20 A T 10: 61,548,095 S94C probably damaging Het
Lrrc8a A G 2: 30,257,099 T642A probably benign Het
Ly6g5b A G 17: 35,114,518 L106P probably benign Het
Lyst A G 13: 13,635,838 S698G probably benign Het
Ndrg1 A G 15: 66,931,051 V334A probably benign Het
Neb A T 2: 52,226,533 Y964* probably null Het
Olfr1047 A T 2: 86,228,629 I114N possibly damaging Het
Olfr1230 T C 2: 89,296,345 probably benign Het
Parp10 A G 15: 76,241,388 F497L probably damaging Het
Pdss1 A G 2: 22,935,577 M343V possibly damaging Het
Phactr3 C T 2: 178,279,062 T231I probably benign Het
Plekhh2 A T 17: 84,583,552 probably benign Het
Ppp1r12c A C 7: 4,486,352 probably null Het
Prdm2 G T 4: 143,133,648 P1024H probably damaging Het
Prkacb A T 3: 146,755,693 M1K probably null Het
Prkdc C A 16: 15,835,166 P3835Q probably damaging Het
Rps27a T C 11: 29,546,353 T87A probably benign Het
Ryr2 T A 13: 11,799,837 E683V possibly damaging Het
Sbk2 A G 7: 4,957,529 L214P probably damaging Het
Sema4g A G 19: 44,997,396 S250G probably benign Het
Slc27a6 T A 18: 58,609,209 D498E probably benign Het
Tarbp1 T C 8: 126,428,155 D1410G probably benign Het
Tas2r134 T A 2: 51,627,747 Y79* probably null Het
Tie1 T C 4: 118,476,098 D857G probably damaging Het
Tnk2 A G 16: 32,680,680 N432S probably damaging Het
Tubg2 C A 11: 101,159,057 D176E probably benign Het
Ugt2b34 A T 5: 86,891,405 W466R probably damaging Het
Usp47 T A 7: 112,087,911 M692K possibly damaging Het
Vmn2r106 T C 17: 20,279,545 K143E probably benign Het
Vmn2r118 G A 17: 55,593,000 L635F probably benign Het
Vmn2r16 C T 5: 109,362,401 probably benign Het
Vmn2r76 A T 7: 86,225,702 M689K probably benign Het
Xkr6 T C 14: 63,818,876 Y79H probably benign Het
Zdhhc6 A G 19: 55,309,754 F224L probably benign Het
Zfp493 T G 13: 67,786,802 I291M probably benign Het
Other mutations in Alkbh8
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00705:Alkbh8 APN 9 3359588 missense probably damaging 1.00
IGL01457:Alkbh8 APN 9 3369825 missense probably damaging 1.00
IGL02398:Alkbh8 APN 9 3345870 missense possibly damaging 0.77
IGL02503:Alkbh8 APN 9 3347852 missense probably damaging 1.00
IGL02824:Alkbh8 APN 9 3368021 splice site probably null
IGL03001:Alkbh8 APN 9 3344602 missense probably benign
IGL03055:Alkbh8 APN 9 3345882 splice site probably benign
R0046:Alkbh8 UTSW 9 3343247 missense probably damaging 1.00
R0046:Alkbh8 UTSW 9 3343247 missense probably damaging 1.00
R0403:Alkbh8 UTSW 9 3385469 missense probably damaging 1.00
R1331:Alkbh8 UTSW 9 3347916 unclassified probably null
R1688:Alkbh8 UTSW 9 3382765 missense probably damaging 1.00
R1859:Alkbh8 UTSW 9 3385499 missense probably benign 0.07
R2014:Alkbh8 UTSW 9 3343216 nonsense probably null
R3016:Alkbh8 UTSW 9 3369658 missense probably benign 0.08
R3722:Alkbh8 UTSW 9 3385153 missense probably damaging 1.00
R4744:Alkbh8 UTSW 9 3344604 nonsense probably null
R4840:Alkbh8 UTSW 9 3369751 missense probably damaging 1.00
R5403:Alkbh8 UTSW 9 3385318 missense probably benign 0.00
R5644:Alkbh8 UTSW 9 3385384 missense probably damaging 1.00
R5677:Alkbh8 UTSW 9 3385147 missense possibly damaging 0.93
R5902:Alkbh8 UTSW 9 3385414 missense probably benign 0.04
R6293:Alkbh8 UTSW 9 3347841 missense possibly damaging 0.52
R7352:Alkbh8 UTSW 9 3345796 missense probably damaging 0.99
R7457:Alkbh8 UTSW 9 3343056 missense probably damaging 0.99
R7869:Alkbh8 UTSW 9 3359503 missense probably damaging 1.00
R7887:Alkbh8 UTSW 9 3385343 missense probably damaging 0.99
R7952:Alkbh8 UTSW 9 3359503 missense probably damaging 1.00
R7970:Alkbh8 UTSW 9 3385343 missense probably damaging 0.99
R8052:Alkbh8 UTSW 9 3385478 missense probably damaging 1.00
X0028:Alkbh8 UTSW 9 3369767 missense probably benign 0.01
X0062:Alkbh8 UTSW 9 3359532 missense probably null 1.00
Z1176:Alkbh8 UTSW 9 3345820 missense probably damaging 1.00
Posted On2013-11-05