Incidental Mutation 'R2231:Alkbh6'
ID 240040
Institutional Source Beutler Lab
Gene Symbol Alkbh6
Ensembl Gene ENSMUSG00000042831
Gene Name alkB homolog 6
Synonyms Abh6
MMRRC Submission 040232-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.397) question?
Stock # R2231 (G1)
Quality Score 225
Status Not validated
Chromosome 7
Chromosomal Location 30008178-30013728 bp(+) (GRCm39)
Type of Mutation critical splice acceptor site
DNA Base Change (assembly) G to A at 30012015 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000121953 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000014065] [ENSMUST00000054594] [ENSMUST00000060834] [ENSMUST00000136887] [ENSMUST00000137550] [ENSMUST00000176304] [ENSMUST00000176789] [ENSMUST00000177078] [ENSMUST00000176504]
AlphaFold Q8K2U2
Predicted Effect probably benign
Transcript: ENSMUST00000014065
SMART Domains Protein: ENSMUSP00000014065
Gene: ENSMUSG00000013921

DomainStartEndE-ValueType
low complexity region 6 33 N/A INTRINSIC
ANK 117 155 1.04e2 SMART
ANK 160 191 3.74e0 SMART
ANK 197 226 3.54e-1 SMART
CAP_GLY 296 361 2.16e-33 SMART
low complexity region 367 379 N/A INTRINSIC
low complexity region 387 408 N/A INTRINSIC
CAP_GLY 418 483 1.4e-32 SMART
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 null
Transcript: ENSMUST00000060834
SMART Domains Protein: ENSMUSP00000051515
Gene: ENSMUSG00000042831

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 null
Transcript: ENSMUST00000136887
SMART Domains Protein: ENSMUSP00000121953
Gene: ENSMUSG00000042831

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: ENSMUST00000143369
Predicted Effect noncoding transcript
Transcript: ENSMUST00000144951
Predicted Effect noncoding transcript
Transcript: ENSMUST00000176006
Predicted Effect noncoding transcript
Transcript: ENSMUST00000148858
Predicted Effect noncoding transcript
Transcript: ENSMUST00000137870
Predicted Effect noncoding transcript
Transcript: ENSMUST00000139121
Predicted Effect noncoding transcript
Transcript: ENSMUST00000176071
Predicted Effect noncoding transcript
Transcript: ENSMUST00000175672
Predicted Effect noncoding transcript
Transcript: ENSMUST00000175902
Predicted Effect probably benign
Transcript: ENSMUST00000137550
Predicted Effect noncoding transcript
Transcript: ENSMUST00000176232
Predicted Effect noncoding transcript
Transcript: ENSMUST00000176253
Predicted Effect noncoding transcript
Transcript: ENSMUST00000176987
Predicted Effect noncoding transcript
Transcript: ENSMUST00000176536
Predicted Effect noncoding transcript
Transcript: ENSMUST00000176965
Predicted Effect noncoding transcript
Transcript: ENSMUST00000176984
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: ENSMUST00000176571
Predicted Effect probably benign
Transcript: ENSMUST00000176789
Predicted Effect noncoding transcript
Transcript: ENSMUST00000177257
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
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 97.2%
  • 20x: 94.7%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Actr1b G A 1: 36,739,440 (GRCm39) R336W probably damaging Het
Ankrd63 A G 2: 118,533,846 (GRCm39) probably benign Het
Arsa T C 15: 89,359,925 (GRCm39) M1V probably null Het
Cblb T A 16: 52,014,635 (GRCm39) S895T probably benign Het
Cdk8 A T 5: 146,168,414 (GRCm39) probably benign Het
Coch G A 12: 51,649,648 (GRCm39) V320I probably benign Het
Cyp2c68 T A 19: 39,687,804 (GRCm39) S398C probably benign Het
Cyp2e1 T C 7: 140,344,827 (GRCm39) S98P probably damaging Het
Dnah5 G A 15: 28,408,563 (GRCm39) probably null Het
Eif2b5 T C 16: 20,323,520 (GRCm39) Y424H probably benign Het
Enoph1 C T 5: 100,188,136 (GRCm39) T20I probably damaging Het
Entpd7 T C 19: 43,710,255 (GRCm39) V304A probably benign Het
Fam227a T A 15: 79,499,582 (GRCm39) Y591F possibly damaging Het
Gal3st1 T C 11: 3,948,282 (GRCm39) I163T probably benign Het
Kif21a G A 15: 90,869,565 (GRCm39) Q429* probably null Het
L1cam T A X: 72,904,947 (GRCm39) N503I possibly damaging Het
Myl3 T C 9: 110,596,979 (GRCm39) L113P probably damaging Het
Nup153 A G 13: 46,863,103 (GRCm39) probably null Het
Oaz3 T C 3: 94,341,846 (GRCm39) T130A probably benign Het
Or4c3d A T 2: 89,882,569 (GRCm39) F33Y probably benign Het
Or5b12b A G 19: 12,861,313 (GRCm39) I23V probably benign Het
Pacs2 G A 12: 113,026,987 (GRCm39) D605N probably damaging Het
Pdk3 G T X: 92,857,604 (GRCm39) N59K probably damaging Het
Piezo2 A T 18: 63,278,143 (GRCm39) C254S probably damaging Het
Plekhd1 T C 12: 80,768,725 (GRCm39) F403L possibly damaging Het
Pou5f1 A G 17: 35,820,959 (GRCm39) T134A probably benign Het
Ppp3r1 G A 11: 17,143,115 (GRCm39) G68R probably damaging Het
Prr5 T C 15: 84,586,981 (GRCm39) S244P probably benign Het
Sacs A G 14: 61,443,378 (GRCm39) probably null Het
Sbno1 A T 5: 124,543,767 (GRCm39) D257E probably damaging Het
Scn10a T C 9: 119,462,916 (GRCm39) E1040G possibly damaging Het
Sgce T C 6: 4,730,066 (GRCm39) K53E probably benign Het
Slc6a11 A G 6: 114,171,590 (GRCm39) T254A probably damaging Het
Spag1 A G 15: 36,191,313 (GRCm39) Y180C probably benign Het
Ssna1 G T 2: 25,162,019 (GRCm39) N58K possibly damaging Het
Tbx3 C A 5: 119,815,589 (GRCm39) N296K probably damaging Het
Tcerg1 A G 18: 42,657,309 (GRCm39) T264A unknown Het
Trdmt1 A T 2: 13,530,436 (GRCm39) F82I probably damaging Het
Ttn A T 2: 76,774,497 (GRCm39) F2136L probably damaging Het
Usb1 T G 8: 96,070,674 (GRCm39) L200R probably damaging Het
Usp33 C T 3: 152,079,023 (GRCm39) A425V probably benign Het
Zfp92 G T X: 72,466,358 (GRCm39) L450F possibly damaging Het
Zw10 C T 9: 48,975,421 (GRCm39) T282M possibly damaging Het
Other mutations in Alkbh6
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02673:Alkbh6 APN 7 30,013,536 (GRCm39) missense probably damaging 1.00
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
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'- ATCATGGTAACCGCACATCC -3'
(R):5'- AGACTGTCCTGGAGCATATGGG -3'

Sequencing Primer
(F):5'- TGGTAACCGCACATCCTCATC -3'
(R):5'- GATGTCAGACGCTAGAATGCCC -3'
Posted On 2014-10-15