Incidental Mutation 'R0284:Alkbh6'
ID 24606
Institutional Source Beutler Lab
Gene Symbol Alkbh6
Ensembl Gene ENSMUSG00000042831
Gene Name alkB homolog 6
Synonyms Abh6
MMRRC Submission 038505-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.397) question?
Stock # R0284 (G1)
Quality Score 215
Status Validated
Chromosome 7
Chromosomal Location 30008178-30013728 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 30013413 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 161 (T161A)
Ref Sequence ENSEMBL: ENSMUSP00000121953 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000054594] [ENSMUST00000060834] [ENSMUST00000136887] [ENSMUST00000137550] [ENSMUST00000176789] [ENSMUST00000176304] [ENSMUST00000177078] [ENSMUST00000176504]
AlphaFold Q8K2U2
Predicted Effect probably benign
Transcript: ENSMUST00000054594
SMART Domains Protein: ENSMUSP00000055874
Gene: ENSMUSG00000019737

DomainStartEndE-ValueType
Blast:SPEC 96 198 2e-34 BLAST
low complexity region 222 234 N/A INTRINSIC
low complexity region 290 315 N/A INTRINSIC
KASH 335 388 2.85e-15 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000060834
AA Change: T175A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000051515
Gene: ENSMUSG00000042831
AA Change: T175A

DomainStartEndE-ValueType
Pfam:2OG-FeII_Oxy_2 23 224 3.5e-14 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000132193
Predicted Effect noncoding transcript
Transcript: ENSMUST00000135319
Predicted Effect noncoding transcript
Transcript: ENSMUST00000135882
Predicted Effect probably benign
Transcript: ENSMUST00000136887
AA Change: T161A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000121953
Gene: ENSMUSG00000042831
AA Change: T161A

DomainStartEndE-ValueType
Pfam:2OG-FeII_Oxy_2 3 210 2.1e-16 PFAM
Pfam:2OG-FeII_Oxy 82 213 1.2e-9 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000137870
Predicted Effect noncoding transcript
Transcript: ENSMUST00000148858
Predicted Effect noncoding transcript
Transcript: ENSMUST00000143369
Predicted Effect noncoding transcript
Transcript: ENSMUST00000176006
Predicted Effect noncoding transcript
Transcript: ENSMUST00000175902
Predicted Effect noncoding transcript
Transcript: ENSMUST00000144951
Predicted Effect noncoding transcript
Transcript: ENSMUST00000176253
Predicted Effect noncoding transcript
Transcript: ENSMUST00000175672
Predicted Effect noncoding transcript
Transcript: ENSMUST00000139121
Predicted Effect noncoding transcript
Transcript: ENSMUST00000176071
Predicted Effect probably benign
Transcript: ENSMUST00000137550
Predicted Effect noncoding transcript
Transcript: ENSMUST00000176232
Predicted Effect noncoding transcript
Transcript: ENSMUST00000176987
Predicted Effect noncoding transcript
Transcript: ENSMUST00000177395
Predicted Effect noncoding transcript
Transcript: ENSMUST00000176965
Predicted Effect noncoding transcript
Transcript: ENSMUST00000176536
Predicted Effect noncoding transcript
Transcript: ENSMUST00000176984
Predicted Effect probably benign
Transcript: ENSMUST00000176789
Predicted Effect probably benign
Transcript: ENSMUST00000176571
Predicted Effect probably benign
Transcript: ENSMUST00000176304
SMART Domains Protein: ENSMUSP00000135637
Gene: ENSMUSG00000019737

DomainStartEndE-ValueType
Blast:SPEC 96 196 3e-34 BLAST
low complexity region 197 232 N/A INTRINSIC
KASH 252 305 2.85e-15 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000177078
SMART Domains Protein: ENSMUSP00000135895
Gene: ENSMUSG00000019737

DomainStartEndE-ValueType
Blast:SPEC 88 150 4e-24 BLAST
low complexity region 174 186 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000176504
SMART Domains Protein: ENSMUSP00000135844
Gene: ENSMUSG00000019737

DomainStartEndE-ValueType
Blast:SPEC 92 170 2e-33 BLAST
low complexity region 194 206 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000177257
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.1%
  • 10x: 95.9%
  • 20x: 92.4%
Validation Efficiency 100% (61/61)
Allele List at MGI
Other mutations in this stock
Total: 62 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Alox12e A G 11: 70,211,725 (GRCm39) probably benign Het
Ap1g2 A G 14: 55,339,149 (GRCm39) probably benign Het
Arid2 A T 15: 96,276,848 (GRCm39) probably benign Het
Bmp2k A T 5: 97,216,314 (GRCm39) H604L unknown Het
Cacna1a A T 8: 85,338,914 (GRCm39) M1705L probably damaging Het
Cacna1d A T 14: 29,794,062 (GRCm39) D1526E probably damaging Het
Ccdc171 A G 4: 83,467,975 (GRCm39) R107G possibly damaging Het
Cklf T C 8: 104,988,207 (GRCm39) probably benign Het
Crabp1 A G 9: 54,672,210 (GRCm39) K9E probably benign Het
Cspg4 A G 9: 56,793,423 (GRCm39) D386G probably damaging Het
Cyp3a41b G A 5: 145,515,014 (GRCm39) probably benign Het
Dsg1a T A 18: 20,464,684 (GRCm39) V393E probably damaging Het
Ednrb C T 14: 104,057,449 (GRCm39) G371D probably damaging Het
Efcab5 T C 11: 76,994,353 (GRCm39) probably benign Het
Exoc2 A T 13: 31,061,608 (GRCm39) probably benign Het
Fbn2 G A 18: 58,183,362 (GRCm39) probably benign Het
Foxo6 T C 4: 120,126,199 (GRCm39) S199G probably benign Het
Fpr1 T A 17: 18,097,618 (GRCm39) I124F probably damaging Het
Gk5 A T 9: 96,063,823 (GRCm39) probably null Het
Gys1 A T 7: 45,086,143 (GRCm39) probably benign Het
Igfbp1 T C 11: 7,148,103 (GRCm39) S49P probably damaging Het
Incenp A T 19: 9,871,357 (GRCm39) S91T unknown Het
Itpkc G A 7: 26,913,968 (GRCm39) R498* probably null Het
Kat6a A G 8: 23,429,819 (GRCm39) T1725A unknown Het
Kiz T A 2: 146,705,730 (GRCm39) C97S probably benign Het
Kri1 A G 9: 21,187,848 (GRCm39) probably benign Het
Lipn A G 19: 34,058,106 (GRCm39) S276G possibly damaging Het
Llgl1 A G 11: 60,602,967 (GRCm39) T881A probably damaging Het
Man1a2 T C 3: 100,592,102 (GRCm39) H26R probably damaging Het
Map3k5 T A 10: 19,876,359 (GRCm39) F173I probably damaging Het
Miox C T 15: 89,220,477 (GRCm39) L189F possibly damaging Het
Mipol1 A G 12: 57,503,855 (GRCm39) Q341R probably damaging Het
Mllt6 G T 11: 97,569,431 (GRCm39) A928S probably benign Het
Ncoa6 TGC TGCGC 2: 155,250,211 (GRCm39) probably null Het
Nipsnap3a C T 4: 52,997,178 (GRCm39) T150I probably benign Het
Nsl1 A G 1: 190,797,427 (GRCm39) E97G probably damaging Het
Or11j4 G A 14: 50,630,452 (GRCm39) V80M probably damaging Het
Or4f54 T C 2: 111,122,931 (GRCm39) V106A probably benign Het
Or7g18 A T 9: 18,786,848 (GRCm39) Y72F probably benign Het
Or8c11 G A 9: 38,289,880 (GRCm39) M234I probably benign Het
Pakap T C 4: 57,855,207 (GRCm39) F220L probably damaging Het
Pdcd6ip A G 9: 113,491,572 (GRCm39) L552S probably damaging Het
Plekhf2 T C 4: 10,990,595 (GRCm39) probably benign Het
Prdm1 T C 10: 44,332,622 (GRCm39) E96G probably damaging Het
Prpf40a T A 2: 53,040,659 (GRCm39) E608D probably damaging Het
Prpf40b A T 15: 99,214,274 (GRCm39) probably benign Het
Rag2 T C 2: 101,460,464 (GRCm39) V258A probably damaging Het
S100a5 A G 3: 90,518,881 (GRCm39) I68V probably benign Het
Serpinb8 G A 1: 107,530,648 (GRCm39) probably null Het
Slc24a4 T C 12: 102,226,740 (GRCm39) V492A probably damaging Het
Spag6l T A 16: 16,598,630 (GRCm39) Q287L probably damaging Het
Spmip6 T G 4: 41,507,538 (GRCm39) E150A probably damaging Het
Synpo2 C T 3: 122,873,383 (GRCm39) W211* probably null Het
Tgtp1 A G 11: 48,877,970 (GRCm39) V245A probably benign Het
Tmem144 G A 3: 79,746,580 (GRCm39) probably benign Het
Trerf1 A G 17: 47,630,471 (GRCm39) noncoding transcript Het
Ttn G C 2: 76,677,048 (GRCm39) probably benign Het
Vmn1r28 G A 6: 58,242,702 (GRCm39) A182T probably benign Het
Vps13d A T 4: 144,871,372 (GRCm39) M1900K probably benign Het
Vps41 A T 13: 19,037,610 (GRCm39) D691V probably damaging Het
Zfp518b T C 5: 38,829,083 (GRCm39) Y974C probably damaging Het
Zscan29 A T 2: 120,997,214 (GRCm39) probably benign Het
Other mutations in Alkbh6
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02673:Alkbh6 APN 7 30,013,536 (GRCm39) missense probably damaging 1.00
R0410:Alkbh6 UTSW 7 30,012,031 (GRCm39) missense probably damaging 1.00
R1879:Alkbh6 UTSW 7 30,011,320 (GRCm39) missense probably damaging 1.00
R2231:Alkbh6 UTSW 7 30,012,015 (GRCm39) critical splice acceptor site probably null
R5961:Alkbh6 UTSW 7 30,013,617 (GRCm39) splice site probably null
R9663:Alkbh6 UTSW 7 30,013,371 (GRCm39) missense probably damaging 0.99
Z1186:Alkbh6 UTSW 7 30,011,719 (GRCm39) missense probably damaging 0.99
Predicted Primers PCR Primer
(F):5'- GCCAATAGTCTTGTCCCCAGAACC -3'
(R):5'- ATAACCCTGGACAGCTACCTCTGC -3'

Sequencing Primer
(F):5'- TATAGATTACCACTCCTGAGGGC -3'
(R):5'- TCACTTGCTCAGCAGGAGG -3'
Posted On 2013-04-16