Incidental Mutation 'IGL01095:Alkbh7'
ID 53053
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Alkbh7
Ensembl Gene ENSMUSG00000002661
Gene Name alkB homolog 7
Synonyms Abh7, 2510008E23Rik, Spata11, 2310045B01Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.158) question?
Stock # IGL01095
Quality Score
Status
Chromosome 17
Chromosomal Location 57304339-57306322 bp(+) (GRCm39)
Type of Mutation splice site (1099 bp from exon)
DNA Base Change (assembly) A to G at 57304470 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000002735 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000002735] [ENSMUST00000002737] [ENSMUST00000002740] [ENSMUST00000074141]
AlphaFold Q9D6Z0
Predicted Effect probably null
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: H36R

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000002737
Gene: ENSMUSG00000002661
AA Change: H36R

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: H36R

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000073775
Gene: ENSMUSG00000002661
AA Change: H36R

DomainStartEndE-ValueType
Pfam:2OG-FeII_Oxy_2 63 145 3.8e-12 PFAM
low complexity region 148 161 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000149632
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam34l T A 8: 44,079,133 (GRCm39) I364L probably benign Het
Adgra1 A G 7: 139,425,570 (GRCm39) T28A possibly damaging Het
Aldh8a1 A G 10: 21,265,180 (GRCm39) E269G probably benign Het
Ap1g2 T C 14: 55,342,571 (GRCm39) T129A probably benign Het
Ap1s1 A G 5: 137,070,663 (GRCm39) I117T probably damaging Het
Brca1 G A 11: 101,415,195 (GRCm39) P119S possibly damaging Het
Chid1 A G 7: 141,110,142 (GRCm39) V62A probably damaging Het
Cpa1 A T 6: 30,642,968 (GRCm39) I299F probably benign Het
Cuzd1 A G 7: 130,917,865 (GRCm39) V245A probably damaging Het
Ddx39b T C 17: 35,465,937 (GRCm39) S71P probably benign Het
Ddx42 A G 11: 106,138,325 (GRCm39) Y708C probably damaging Het
Dnah3 C A 7: 119,550,820 (GRCm39) L3166F probably benign Het
Erap1 A G 13: 74,816,213 (GRCm39) E114G probably benign Het
Fap G A 2: 62,354,545 (GRCm39) T448I possibly damaging Het
Fhl2 A T 1: 43,170,841 (GRCm39) Y158N probably benign Het
Fscb A G 12: 64,520,155 (GRCm39) V437A possibly damaging Het
Il18 A T 9: 50,490,629 (GRCm39) D88V probably damaging Het
Il5ra A T 6: 106,719,605 (GRCm39) probably benign Het
Jakmip3 A T 7: 138,622,546 (GRCm39) Q302L probably damaging Het
Lrp2 A T 2: 69,322,776 (GRCm39) Y1857* probably null Het
Meis2 T C 2: 115,694,905 (GRCm39) T406A probably benign Het
Mre11a T A 9: 14,721,120 (GRCm39) S346R probably benign Het
Myh15 A T 16: 48,952,378 (GRCm39) K816M probably damaging Het
Mysm1 C T 4: 94,856,106 (GRCm39) probably null Het
Nyap1 C A 5: 137,736,346 (GRCm39) R47L probably damaging Het
Oas3 A G 5: 120,910,954 (GRCm39) Y209H probably damaging Het
Or2v2 T G 11: 49,003,680 (GRCm39) Y291S probably damaging Het
Or4g16 A G 2: 111,136,966 (GRCm39) R139G probably benign Het
Or6c209 A G 10: 129,483,498 (GRCm39) D167G probably benign Het
Or8b42 A G 9: 38,341,811 (GRCm39) I78V probably benign Het
Or8d6 T C 9: 39,853,976 (GRCm39) V140A probably benign Het
Pde4b T C 4: 102,363,241 (GRCm39) probably null Het
Psd3 G A 8: 68,361,165 (GRCm39) T99M probably damaging Het
R3hcc1 T C 14: 69,937,477 (GRCm39) E390G probably damaging Het
Rabgap1l A C 1: 160,566,539 (GRCm39) C58W probably benign Het
Rasd1 A G 11: 59,855,117 (GRCm39) I121T probably damaging Het
Spta1 A G 1: 174,041,051 (GRCm39) N1284D probably benign Het
Tpr T C 1: 150,285,891 (GRCm39) V525A possibly damaging Het
Other mutations in Alkbh7
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
R6811:Alkbh7 UTSW 17 57,304,392 (GRCm39) missense probably benign 0.31
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
Posted On 2013-06-21