Incidental Mutation 'R5480:Alkbh7'
ID 434285
Institutional Source Beutler Lab
Gene Symbol Alkbh7
Ensembl Gene ENSMUSG00000002661
Gene Name alkB homolog 7
Synonyms Abh7, 2510008E23Rik, Spata11, 2310045B01Rik
MMRRC Submission 043041-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.158) question?
Stock # R5480 (G1)
Quality Score 225
Status Validated
Chromosome 17
Chromosomal Location 57304339-57306322 bp(+) (GRCm39)
Type of Mutation utr 3 prime
DNA Base Change (assembly) A to G at 57306131 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000073775 (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 benign
Transcript: ENSMUST00000002737
SMART Domains Protein: ENSMUSP00000002737
Gene: ENSMUSG00000002661

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
Coding Region Coverage
  • 1x: 98.3%
  • 3x: 97.3%
  • 10x: 95.2%
  • 20x: 90.7%
Validation Efficiency 97% (56/58)
Allele List at MGI
Other mutations in this stock
Total: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Alpk2 A G 18: 65,482,979 (GRCm39) L343S probably damaging Het
Btbd10 T A 7: 112,915,914 (GRCm39) R392W probably damaging Het
Camkv A G 9: 107,824,074 (GRCm39) D216G probably damaging Het
Col22a1 T C 15: 71,836,460 (GRCm39) D525G probably damaging Het
Dqx1 A T 6: 83,041,784 (GRCm39) D542V probably damaging Het
Epha8 T C 4: 136,662,441 (GRCm39) T539A probably benign Het
Faap100 T C 11: 120,267,939 (GRCm39) E278G probably damaging Het
Fat2 A G 11: 55,200,912 (GRCm39) S721P probably damaging Het
Fcgbpl1 T A 7: 27,857,424 (GRCm39) C2257* probably null Het
Frem2 A T 3: 53,563,928 (GRCm39) L193* probably null Het
Gfy C A 7: 44,826,657 (GRCm39) V394F probably benign Het
Gipr A G 7: 18,894,579 (GRCm39) L241P probably damaging Het
Gm5478 A G 15: 101,552,100 (GRCm39) S445P probably damaging Het
Ift140 G T 17: 25,239,550 (GRCm39) W69L probably damaging Het
Kat6a T A 8: 23,428,323 (GRCm39) M1226K possibly damaging Het
Klk12 T G 7: 43,420,482 (GRCm39) H140Q probably benign Het
Map3k14 A G 11: 103,130,330 (GRCm39) F196L probably benign Het
Mblac2 T A 13: 81,898,395 (GRCm39) V257E possibly damaging Het
Pcdha11 A G 18: 37,138,935 (GRCm39) E188G probably benign Het
Pdzd7 T C 19: 45,027,724 (GRCm39) N250S possibly damaging Het
Phkb A G 8: 86,648,811 (GRCm39) D209G probably damaging Het
Pigs T G 11: 78,219,901 (GRCm39) I92S possibly damaging Het
Pigz G T 16: 31,763,439 (GRCm39) G166C probably damaging Het
Pkd1l2 C A 8: 117,757,388 (GRCm39) R1550L probably damaging Het
Pkd2l1 A G 19: 44,180,595 (GRCm39) V40A probably benign Het
Plxna1 A T 6: 89,301,616 (GRCm39) M1470K probably damaging Het
Polq T A 16: 36,833,652 (GRCm39) probably benign Het
Prune2 A G 19: 17,098,311 (GRCm39) T1272A possibly damaging Het
Rfwd3 A T 8: 112,000,464 (GRCm39) D720E probably damaging Het
Rgs12 C G 5: 35,123,455 (GRCm39) Q413E probably benign Het
Rhobtb1 T A 10: 69,106,563 (GRCm39) V376D possibly damaging Het
Rrp8 C T 7: 105,383,336 (GRCm39) S310N probably damaging Het
S100a3 C T 3: 90,509,591 (GRCm39) L79F probably damaging Het
Setbp1 C A 18: 78,901,278 (GRCm39) M796I probably damaging Het
Sipa1 A G 19: 5,709,658 (GRCm39) L254P possibly damaging Het
Slc4a7 C G 14: 14,782,138 (GRCm38) H964Q probably damaging Het
Strc G T 2: 121,195,300 (GRCm39) P1661Q probably benign Het
Taf5l A T 8: 124,736,559 (GRCm39) V4E possibly damaging Het
Tbc1d15 T C 10: 115,069,123 (GRCm39) E82G probably damaging Het
Thada A G 17: 84,739,682 (GRCm39) S858P probably benign Het
Ticrr T C 7: 79,310,557 (GRCm39) V157A probably damaging Het
Trim21 T C 7: 102,208,463 (GRCm39) T419A probably benign Het
Vmn2r60 G T 7: 41,785,154 (GRCm39) W122L probably damaging Het
Vwa3b C A 1: 37,139,787 (GRCm39) Y369* probably null Het
Ythdf3 T C 3: 16,237,664 (GRCm39) S2P 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
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
Predicted Primers PCR Primer
(F):5'- TCCCATGAGATCCTTAGAGATGAAG -3'
(R):5'- GCTTTGAAAGGCTCAGGTGAC -3'

Sequencing Primer
(F):5'- ATCTCAGTGATTTGCCGC -3'
(R):5'- GCTTTGAAAGGCTCAGGTGACATTAC -3'
Posted On 2016-10-06