Incidental Mutation 'R8830:Aaed1'
ID 673767
Institutional Source Beutler Lab
Gene Symbol Aaed1
Ensembl Gene ENSMUSG00000021482
Gene Name AhpC/TSA antioxidant enzyme domain containing 1
Accession Numbers
Essential gene? Probably non essential (E-score: 0.077) question?
Stock # R8830 (G1)
Quality Score 225.009
Status Validated
Chromosome 13
Chromosomal Location 64275280-64312710 bp(-) (GRCm38)
Type of Mutation nonsense
DNA Base Change (assembly) G to A at 64297300 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Glutamine to Stop codon at position 170 (Q170*)
Ref Sequence ENSEMBL: ENSMUSP00000152323 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000220895] [ENSMUST00000222570]
AlphaFold Q9D1A0
Predicted Effect probably null
Transcript: ENSMUST00000021938
AA Change: Q115*
SMART Domains Protein: ENSMUSP00000021938
Gene: ENSMUSG00000021482
AA Change: Q115*

Pfam:AhpC-TSA 30 151 6.9e-8 PFAM
Pfam:AhpC-TSA_2 77 196 5.3e-24 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000220895
Predicted Effect probably benign
Transcript: ENSMUST00000221118
Predicted Effect probably benign
Transcript: ENSMUST00000221350
Predicted Effect probably null
Transcript: ENSMUST00000222570
AA Change: Q170*
Meta Mutation Damage Score 0.9754 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.7%
Validation Efficiency 100% (68/68)
Allele List at MGI
Other mutations in this stock
Total: 71 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca7 T A 10: 80,008,971 (GRCm38) V1509E probably damaging Het
Abraxas2 A G 7: 132,883,356 (GRCm38) D376G probably damaging Het
Agbl1 A G 7: 76,335,311 (GRCm38) T159A Het
Ahnak2 G A 12: 112,787,036 (GRCm38) R89W Het
Arhgef40 A C 14: 52,003,708 (GRCm38) D1396A probably damaging Het
Atp13a5 A T 16: 29,248,176 (GRCm38) F1060I probably damaging Het
Atp6v1c1 T A 15: 38,677,545 (GRCm38) F105I probably damaging Het
Atp9b C T 18: 80,765,800 (GRCm38) E635K Het
BC017643 C T 11: 121,228,723 (GRCm38) probably benign Het
Brix1 T A 15: 10,479,596 (GRCm38) Q124L possibly damaging Het
Cep68 A G 11: 20,230,418 (GRCm38) probably benign Het
Cfap46 A G 7: 139,615,649 (GRCm38) S2208P unknown Het
Crisp1 T A 17: 40,294,419 (GRCm38) K234* probably null Het
Cryzl1 C T 16: 91,712,204 (GRCm38) V70I probably benign Het
Dnah7b T C 1: 46,191,793 (GRCm38) Y1404H probably damaging Het
Dot1l A G 10: 80,771,199 (GRCm38) H109R possibly damaging Het
E330034G19Rik A C 14: 24,309,508 (GRCm38) H329P unknown Het
Erbb4 A T 1: 68,075,468 (GRCm38) L939Q probably damaging Het
Fst A T 13: 114,455,828 (GRCm38) C118S probably damaging Het
Gfra3 A G 18: 34,711,136 (GRCm38) V117A possibly damaging Het
Gldc C G 19: 30,100,812 (GRCm38) M928I probably benign Het
Gm5538 A T 3: 59,747,323 (GRCm38) T193S probably benign Het
Gm996 T G 2: 25,577,250 (GRCm38) D883A Het
Greb1 A G 12: 16,688,519 (GRCm38) M1481T probably benign Het
Hecw2 G A 1: 53,891,146 (GRCm38) R1045C probably damaging Het
Hexb C T 13: 97,194,254 (GRCm38) V84I probably benign Het
Hpse T C 5: 100,695,586 (GRCm38) E240G probably benign Het
Hspa12a T C 19: 58,805,463 (GRCm38) D322G possibly damaging Het
Hspa9 A T 18: 34,948,104 (GRCm38) probably null Het
Kif9 A G 9: 110,524,930 (GRCm38) K790R probably damaging Het
Klc2 C T 19: 5,110,366 (GRCm38) probably null Het
Ldha C G 7: 46,850,278 (GRCm38) N144K probably benign Het
Micalcl A G 7: 112,381,196 (GRCm38) T126A probably benign Het
Mrpl15 A T 1: 4,782,584 (GRCm38) V137D probably damaging Het
Muc16 G A 9: 18,646,069 (GRCm38) T2976I unknown Het
Mybpc2 A T 7: 44,512,541 (GRCm38) V495D probably damaging Het
Olfr597 A G 7: 103,321,005 (GRCm38) K198R Het
Olfr713 A G 7: 107,036,682 (GRCm38) N176D probably benign Het
Olfr772 A T 10: 129,174,846 (GRCm38) Y58* probably null Het
Pcnt G A 10: 76,382,174 (GRCm38) T2089I probably benign Het
Pdzd7 T C 19: 45,033,073 (GRCm38) D563G probably damaging Het
Phlpp1 T G 1: 106,350,603 (GRCm38) L915R probably damaging Het
Plekhh2 T A 17: 84,521,803 (GRCm38) I34N probably damaging Het
Pou6f2 T A 13: 18,378,498 (GRCm38) T84S Het
Ptprq A G 10: 107,586,695 (GRCm38) V1612A possibly damaging Het
Pvrig T G 5: 138,342,148 (GRCm38) probably benign Het
Rasl10b A T 11: 83,412,676 (GRCm38) I20F probably damaging Het
Rimbp3 T A 16: 17,209,006 (GRCm38) V98E probably damaging Het
Rims2 T C 15: 39,437,362 (GRCm38) I355T possibly damaging Het
Slc1a2 A G 2: 102,736,015 (GRCm38) H30R probably benign Het
Slc28a1 G A 7: 81,161,046 (GRCm38) V389M possibly damaging Het
Slc7a13 T C 4: 19,819,189 (GRCm38) S130P probably benign Het
Sp140 TTTTTTTT TTTTTTTTTTTTT 1: 85,644,574 (GRCm38) probably benign Het
Spag17 T A 3: 100,125,435 (GRCm38) H2320Q possibly damaging Het
Speer4a T C 5: 26,036,795 (GRCm38) E111G possibly damaging Het
Ss18l1 T C 2: 180,067,338 (GRCm38) Y397H unknown Het
Tbck T C 3: 132,838,057 (GRCm38) S890P probably damaging Het
Tcp11 T C 17: 28,080,230 (GRCm38) E17G probably benign Het
Tesk2 C T 4: 116,802,287 (GRCm38) R315C probably benign Het
Tln1 T C 4: 43,556,383 (GRCm38) N45S probably benign Het
Trim10 C T 17: 36,869,954 (GRCm38) P26S probably damaging Het
Vmac C A 17: 56,715,573 (GRCm38) G146C probably damaging Het
Vmn1r14 G A 6: 57,234,032 (GRCm38) M198I probably damaging Het
Vmn1r194 T C 13: 22,244,836 (GRCm38) Y208H possibly damaging Het
Vmn1r78 G A 7: 12,153,191 (GRCm38) C243Y probably damaging Het
Wasf3 C T 5: 146,466,862 (GRCm38) Q261* probably null Het
Ybx2 A G 11: 69,936,237 (GRCm38) K88R probably benign Het
Zfhx4 G A 3: 5,398,889 (GRCm38) R1394H probably damaging Het
Zfp871 T C 17: 32,774,927 (GRCm38) T425A probably benign Het
Zfy2 C T Y: 2,106,600 (GRCm38) S678N possibly damaging Het
Zswim4 T C 8: 84,223,316 (GRCm38) E650G possibly damaging Het
Other mutations in Aaed1
AlleleSourceChrCoordTypePredicted EffectPPH Score
LCD18:Aaed1 UTSW 13 64,287,285 (GRCm38) unclassified probably benign
R2359:Aaed1 UTSW 13 64,312,651 (GRCm38) missense probably benign
R3946:Aaed1 UTSW 13 64,309,098 (GRCm38) missense probably damaging 1.00
R7420:Aaed1 UTSW 13 64,297,317 (GRCm38) missense possibly damaging 0.93
R7833:Aaed1 UTSW 13 64,312,278 (GRCm38) missense probably benign 0.07
R8166:Aaed1 UTSW 13 64,309,107 (GRCm38) missense
Predicted Primers PCR Primer

Sequencing Primer
Posted On 2021-07-15