Incidental Mutation 'IGL02673:Alkbh6'
ID 303021
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Alkbh6
Ensembl Gene ENSMUSG00000042831
Gene Name alkB homolog 6
Synonyms Abh6
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.397) question?
Stock # IGL02673
Quality Score
Status
Chromosome 7
Chromosomal Location 30008178-30013728 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 30013536 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glycine to Cysteine at position 202 (G202C)
Ref Sequence ENSEMBL: ENSMUSP00000121953 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000054594] [ENSMUST00000060834] [ENSMUST00000136887] [ENSMUST00000137550] [ENSMUST00000176504] [ENSMUST00000176304] [ENSMUST00000177078] [ENSMUST00000176789]
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 damaging
Transcript: ENSMUST00000060834
AA Change: G216C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000051515
Gene: ENSMUSG00000042831
AA Change: G216C

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 damaging
Transcript: ENSMUST00000136887
AA Change: G202C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000121953
Gene: ENSMUSG00000042831
AA Change: G202C

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 probably benign
Transcript: ENSMUST00000137550
Predicted Effect noncoding transcript
Transcript: ENSMUST00000175902
Predicted Effect noncoding transcript
Transcript: ENSMUST00000176253
Predicted Effect noncoding transcript
Transcript: ENSMUST00000144951
Predicted Effect noncoding transcript
Transcript: ENSMUST00000176006
Predicted Effect noncoding transcript
Transcript: ENSMUST00000176536
Predicted Effect noncoding transcript
Transcript: ENSMUST00000148858
Predicted Effect noncoding transcript
Transcript: ENSMUST00000137870
Predicted Effect noncoding transcript
Transcript: ENSMUST00000176071
Predicted Effect noncoding transcript
Transcript: ENSMUST00000143369
Predicted Effect noncoding transcript
Transcript: ENSMUST00000175672
Predicted Effect noncoding transcript
Transcript: ENSMUST00000139121
Predicted Effect noncoding transcript
Transcript: ENSMUST00000176232
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 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 noncoding transcript
Transcript: ENSMUST00000176984
Predicted Effect noncoding transcript
Transcript: ENSMUST00000177395
Predicted Effect noncoding transcript
Transcript: ENSMUST00000176965
Predicted Effect noncoding transcript
Transcript: ENSMUST00000176987
Predicted Effect probably benign
Transcript: ENSMUST00000176571
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 noncoding transcript
Transcript: ENSMUST00000177257
Predicted Effect probably benign
Transcript: ENSMUST00000176789
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9930012K11Rik T A 14: 70,395,056 (GRCm39) T33S probably benign Het
Abca4 T C 3: 121,897,150 (GRCm39) Y610H probably damaging Het
Agl A T 3: 116,575,248 (GRCm39) C630S probably benign Het
Ascc3 A T 10: 50,536,769 (GRCm39) M701L probably benign Het
Bpgm T A 6: 34,464,769 (GRCm39) L162Q probably damaging Het
Ccdc150 A G 1: 54,368,149 (GRCm39) T592A probably benign Het
Chpf2 G A 5: 24,796,302 (GRCm39) R416Q probably benign Het
Col14a1 G A 15: 55,282,178 (GRCm39) G813E unknown Het
Col18a1 C T 10: 76,894,997 (GRCm39) G983D probably damaging Het
Col5a1 C T 2: 27,864,727 (GRCm39) A737V unknown Het
Cyp2a22 T G 7: 26,637,525 (GRCm39) K157Q probably benign Het
Dhx57 A G 17: 80,574,974 (GRCm39) V668A probably damaging Het
Eps8l1 T A 7: 4,481,731 (GRCm39) V743E probably damaging Het
Fnbp4 C T 2: 90,593,816 (GRCm39) T557M probably benign Het
Fzd5 C T 1: 64,774,265 (GRCm39) E499K possibly damaging Het
Gm57858 A C 3: 36,100,848 (GRCm39) probably benign Het
Il1r2 A G 1: 40,154,323 (GRCm39) Y230C probably damaging Het
Insrr A C 3: 87,720,368 (GRCm39) E1002A possibly damaging Het
Kdm4a C T 4: 118,025,769 (GRCm39) D146N probably benign Het
Kidins220 G A 12: 25,044,991 (GRCm39) V262M probably damaging Het
Kif26b C T 1: 178,649,170 (GRCm39) P430L probably damaging Het
Mamdc4 T C 2: 25,460,066 (GRCm39) S62G probably benign Het
Mcu C A 10: 59,303,466 (GRCm39) V124F probably damaging Het
Mlf1 A G 3: 67,301,280 (GRCm39) M98V probably benign Het
Mogs T C 6: 83,095,199 (GRCm39) V672A probably damaging Het
Ntrk3 T C 7: 77,900,512 (GRCm39) D609G probably damaging Het
Or1n1 C T 2: 36,750,188 (GRCm39) M57I probably benign Het
Pdlim5 T A 3: 142,058,548 (GRCm39) E65D probably damaging Het
Peg3 T C 7: 6,713,413 (GRCm39) N603S probably damaging Het
Pkd1 A G 17: 24,790,257 (GRCm39) Y980C probably benign Het
Rack1 A G 11: 48,691,357 (GRCm39) T23A probably benign Het
Rad50 A T 11: 53,579,067 (GRCm39) I497K probably benign Het
Sin3a C A 9: 57,014,725 (GRCm39) Q649K probably damaging Het
Sirt6 A G 10: 81,461,671 (GRCm39) F46L probably damaging Het
Slc40a1 A T 1: 45,957,576 (GRCm39) I136N possibly damaging Het
Sspo G A 6: 48,452,794 (GRCm39) R2834H probably damaging Het
Sspo G T 6: 48,475,709 (GRCm39) probably null Het
Sycp2 T A 2: 178,036,004 (GRCm39) T228S possibly damaging Het
Uhrf2 T A 19: 30,070,207 (GRCm39) N785K probably damaging Het
Vmn2r58 T A 7: 41,514,082 (GRCm39) Y187F possibly damaging Het
Vmn2r80 A G 10: 79,005,318 (GRCm39) I318M probably benign Het
Vps13c T C 9: 67,785,380 (GRCm39) L249P probably damaging Het
Zw10 T A 9: 48,988,893 (GRCm39) probably null Het
Other mutations in Alkbh6
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0284:Alkbh6 UTSW 7 30,013,413 (GRCm39) missense probably benign
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
Posted On 2015-04-16