Incidental Mutation 'R6811:Alkbh7'
ID 533823
Institutional Source Beutler Lab
Gene Symbol Alkbh7
Ensembl Gene ENSMUSG00000002661
Gene Name alkB homolog 7
Synonyms Abh7, 2510008E23Rik, Spata11, 2310045B01Rik
MMRRC Submission 045018-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.158) question?
Stock # R6811 (G1)
Quality Score 138.008
Status Not validated
Chromosome 17
Chromosomal Location 57304339-57306322 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 57304392 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Leucine at position 10 (R10L)
Ref Sequence ENSEMBL: ENSMUSP00000002737 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000002735] [ENSMUST00000002737] [ENSMUST00000002740] [ENSMUST00000074141]
AlphaFold Q9D6Z0
Predicted Effect probably benign
Transcript: ENSMUST00000002735
SMART Domains Protein: ENSMUSP00000002735
Gene: ENSMUSG00000002660

DomainStartEndE-ValueType
Pfam:CLP_protease 63 244 8.8e-82 PFAM
low complexity region 259 270 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000002737
AA Change: R10L

PolyPhen 2 Score 0.312 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000002737
Gene: ENSMUSG00000002661
AA Change: R10L

DomainStartEndE-ValueType
Pfam:2OG-FeII_Oxy_2 64 203 8.2e-14 PFAM
low complexity region 206 219 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000002740
SMART Domains Protein: ENSMUSP00000002740
Gene: ENSMUSG00000002664

DomainStartEndE-ValueType
signal peptide 1 21 N/A INTRINSIC
TGFB 66 155 1.24e-2 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000074141
AA Change: R10L

PolyPhen 2 Score 0.228 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000073775
Gene: ENSMUSG00000002661
AA Change: R10L

DomainStartEndE-ValueType
Pfam:2OG-FeII_Oxy_2 63 145 3.8e-12 PFAM
low complexity region 148 161 N/A INTRINSIC
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.8%
  • 10x: 99.1%
  • 20x: 97.6%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrb1 T C 15: 74,401,210 (GRCm39) S69P probably damaging Het
Ano3 T C 2: 110,711,212 (GRCm39) E84G probably benign Het
Asxl3 A G 18: 22,655,968 (GRCm39) E1326G possibly damaging Het
Atrnl1 T G 19: 57,643,393 (GRCm39) M427R probably damaging Het
Cenpf T C 1: 189,386,739 (GRCm39) E1847G probably benign Het
Csf1r T C 18: 61,252,125 (GRCm39) Y536H probably damaging Het
Dnm3 T C 1: 162,148,652 (GRCm39) K240E probably damaging Het
Dsc1 T G 18: 20,222,711 (GRCm39) E587A probably benign Het
Gm19410 C A 8: 36,239,733 (GRCm39) A143E probably damaging Het
Gm19965 G T 1: 116,731,809 (GRCm39) L38F probably damaging Het
Helz T C 11: 107,510,144 (GRCm39) probably null Het
Herc2 C T 7: 55,763,181 (GRCm39) R929* probably null Het
Iqcn T C 8: 71,169,422 (GRCm39) S1171P probably benign Het
Krt31 A G 11: 99,939,242 (GRCm39) L225P probably damaging Het
Lrp1b T C 2: 40,605,512 (GRCm39) probably null Het
Lrp1b A G 2: 41,339,206 (GRCm39) V765A probably benign Het
Lsm5 A G 6: 56,679,127 (GRCm39) I34T possibly damaging Het
Ly6g6c T C 17: 35,288,386 (GRCm39) L86P probably damaging Het
Meak7 A T 8: 120,495,029 (GRCm39) I243N possibly damaging Het
Megf11 A G 9: 64,451,923 (GRCm39) T116A probably damaging Het
Megf6 T C 4: 154,336,618 (GRCm39) C190R probably damaging Het
Mroh9 A G 1: 162,873,610 (GRCm39) V515A possibly damaging Het
Mtbp C A 15: 55,469,942 (GRCm39) probably null Het
Myo9b T A 8: 71,809,222 (GRCm39) F1810L probably damaging Het
Nacad T G 11: 6,549,400 (GRCm39) K180Q possibly damaging Het
Ncf2 G A 1: 152,711,791 (GRCm39) V502I probably benign Het
Npsr1 T A 9: 24,046,105 (GRCm39) C75S probably benign Het
Oog3 T C 4: 143,886,152 (GRCm39) T149A probably benign Het
Pank1 T A 19: 34,818,422 (GRCm39) Q39L probably benign Het
Pdx1 T C 5: 147,211,474 (GRCm39) S232P possibly damaging Het
Peg10 T TCCA 6: 4,756,451 (GRCm39) probably benign Het
Pirb A T 7: 3,722,641 (GRCm39) V117E possibly damaging Het
Ppl G A 16: 4,907,008 (GRCm39) L1096F probably damaging Het
Rev3l T A 10: 39,706,917 (GRCm39) Y2223* probably null Het
Slc16a4 A G 3: 107,206,233 (GRCm39) Y101C probably benign Het
Slc17a3 A T 13: 24,039,924 (GRCm39) I321F possibly damaging Het
Sufu T A 19: 46,438,317 (GRCm39) D168E probably damaging Het
Tenm4 G A 7: 96,202,703 (GRCm39) R106H probably benign Het
Vmn1r237 T G 17: 21,534,648 (GRCm39) S124A probably benign Het
Vmn2r60 T A 7: 41,844,310 (GRCm39) C558S probably damaging Het
Vwa5b1 G A 4: 138,319,414 (GRCm39) T414I probably benign Het
Zbtb47 T C 9: 121,595,595 (GRCm39) S573P probably damaging Het
Zfp971 T G 2: 177,675,674 (GRCm39) C424W possibly damaging Het
Other mutations in Alkbh7
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01095:Alkbh7 APN 17 57,304,470 (GRCm39) splice site probably null
R0462:Alkbh7 UTSW 17 57,305,443 (GRCm39) missense probably benign 0.19
R0545:Alkbh7 UTSW 17 57,306,012 (GRCm39) nonsense probably null
R5480:Alkbh7 UTSW 17 57,306,131 (GRCm39) utr 3 prime probably benign
R5608:Alkbh7 UTSW 17 57,305,446 (GRCm39) missense probably damaging 1.00
R6489:Alkbh7 UTSW 17 57,305,979 (GRCm39) missense probably damaging 0.99
R6551:Alkbh7 UTSW 17 57,305,945 (GRCm39) nonsense probably null
R7219:Alkbh7 UTSW 17 57,305,508 (GRCm39) missense probably damaging 1.00
R7620:Alkbh7 UTSW 17 57,304,551 (GRCm39) missense probably damaging 0.99
Predicted Primers PCR Primer
(F):5'- CTGCTTGAGACCTTGCTCAG -3'
(R):5'- GCAAGCCTAGCTCTTCACTC -3'

Sequencing Primer
(F):5'- TTGCTCAGGGCCGAGAG -3'
(R):5'- TCACTATGTCCCAGTGGGC -3'
Posted On 2018-09-12