Incidental Mutation 'R5608:Alkbh7'
ID 439411
Institutional Source Beutler Lab
Gene Symbol Alkbh7
Ensembl Gene ENSMUSG00000002661
Gene Name alkB homolog 7
Synonyms Abh7, 2510008E23Rik, Spata11, 2310045B01Rik
MMRRC Submission 043272-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.158) question?
Stock # R5608 (G1)
Quality Score 225
Status Validated
Chromosome 17
Chromosomal Location 57304339-57306322 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 57305446 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Phenylalanine at position 88 (I88F)
Ref Sequence ENSEMBL: ENSMUSP00000002737 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000002733] [ENSMUST00000002735] [ENSMUST00000002737] [ENSMUST00000002740] [ENSMUST00000074141]
AlphaFold Q9D6Z0
Predicted Effect probably benign
Transcript: ENSMUST00000002733
SMART Domains Protein: ENSMUSP00000002733
Gene: ENSMUSG00000002658

DomainStartEndE-ValueType
Pfam:TFIIF_alpha 2 508 2.6e-200 PFAM
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 damaging
Transcript: ENSMUST00000002737
AA Change: I88F

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000002737
Gene: ENSMUSG00000002661
AA Change: I88F

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
SMART Domains Protein: ENSMUSP00000073775
Gene: ENSMUSG00000002661

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
Meta Mutation Damage Score 0.6137 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.2%
  • 20x: 94.9%
Validation Efficiency 95% (54/57)
Allele List at MGI
Other mutations in this stock
Total: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamtsl5 T C 10: 80,178,781 (GRCm39) D199G probably benign Het
Adgrl1 G T 8: 84,663,886 (GRCm39) G1118W probably damaging Het
Adgrv1 T C 13: 81,303,395 (GRCm39) E117G probably damaging Het
Ankrd26 C A 6: 118,488,583 (GRCm39) D1359Y probably damaging Het
Apoo-ps T C 13: 107,550,709 (GRCm39) noncoding transcript Het
Arfgap2 G A 2: 91,100,547 (GRCm39) R298H probably damaging Het
Birc6 G A 17: 74,920,539 (GRCm39) V2109I probably damaging Het
Blvrb C T 7: 27,158,894 (GRCm39) P98L probably benign Het
Bmpr1b C A 3: 141,563,283 (GRCm39) M220I possibly damaging Het
Bpifa1 T C 2: 153,989,495 (GRCm39) probably benign Het
Capn7 A G 14: 31,092,664 (GRCm39) Y737C probably damaging Het
Cdh13 A T 8: 119,484,213 (GRCm39) D158V probably benign Het
Cenpe C A 3: 134,940,837 (GRCm39) S662* probably null Het
Colec12 T A 18: 9,848,267 (GRCm39) D148E possibly damaging Het
Dennd5a C A 7: 109,518,630 (GRCm39) E480* probably null Het
Dpysl4 T C 7: 138,678,459 (GRCm39) V473A probably damaging Het
Dyrk3 T C 1: 131,056,452 (GRCm39) S574G probably benign Het
Fchsd1 C T 18: 38,092,926 (GRCm39) probably benign Het
H2-Aa T C 17: 34,502,816 (GRCm39) T117A possibly damaging Het
Helq C T 5: 100,938,085 (GRCm39) G454S probably damaging Het
Incenp CGCTGCTGCTGC CGCTGCTGCTGCTGC 19: 9,871,232 (GRCm39) probably benign Het
Ktn1 TTGTTGTCTTTGTGTT TTGTT 14: 47,971,554 (GRCm39) probably benign Het
Lig1 C A 7: 13,039,933 (GRCm39) T715N probably damaging Het
Lrrc31 C A 3: 30,743,994 (GRCm39) probably null Het
Ltbp2 A C 12: 84,834,238 (GRCm39) probably null Het
Marcks A T 10: 37,012,912 (GRCm39) V41E probably damaging Het
Mex3c T A 18: 73,723,014 (GRCm39) M369K possibly damaging Het
Msh6 A G 17: 88,294,329 (GRCm39) D1028G probably damaging Het
Nhlrc3 C T 3: 53,369,732 (GRCm39) probably null Het
Or1n1b A G 2: 36,780,527 (GRCm39) F111S probably damaging Het
Or52s1b T C 7: 102,822,056 (GRCm39) T263A probably damaging Het
Or52z12 G A 7: 103,233,506 (GRCm39) W92* probably null Het
Or8b8 G A 9: 37,809,078 (GRCm39) C126Y probably damaging Het
Pcdhga6 A G 18: 37,840,514 (GRCm39) N78S possibly damaging Het
Plag1 T A 4: 3,905,463 (GRCm39) K76* probably null Het
Ptpn21 T A 12: 98,655,036 (GRCm39) T644S probably benign Het
Qrfpr A G 3: 36,235,114 (GRCm39) V292A possibly damaging Het
Rbbp6 T A 7: 122,596,309 (GRCm39) V617E probably damaging Het
Rnf157 A T 11: 116,287,146 (GRCm39) probably null Het
Serpina5 A C 12: 104,070,003 (GRCm39) Y300S probably damaging Het
Slc41a3 A G 6: 90,617,889 (GRCm39) K279R probably benign Het
Smndc1 A G 19: 53,372,084 (GRCm39) V110A probably benign Het
Spata31e2 T C 1: 26,722,129 (GRCm39) Q1017R probably damaging Het
Tubgcp6 A G 15: 88,995,353 (GRCm39) V419A probably benign Het
Uggt2 C T 14: 119,326,611 (GRCm39) G200D possibly damaging Het
Utrn A T 10: 12,547,581 (GRCm39) S1620T probably benign Het
Xkr4 T C 1: 3,741,603 (GRCm39) probably benign Het
Zscan22 G A 7: 12,640,919 (GRCm39) G388S probably 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
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
Predicted Primers PCR Primer
(F):5'- ACCAGATGCGTGGTTGAAAC -3'
(R):5'- AAGGCCAGCAATGGTAGATC -3'

Sequencing Primer
(F):5'- GGTTGAAACCTCACTGATAATGAGC -3'
(R):5'- CTGGAAAAGGGGTATGTATGCTG -3'
Posted On 2016-10-26