Incidental Mutation 'R3946:Aaed1'
ID 307727
Institutional Source Beutler Lab
Gene Symbol Aaed1
Ensembl Gene ENSMUSG00000021482
Gene Name AhpC/TSA antioxidant enzyme domain containing 1
MMRRC Submission 040827-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.077) question?
Stock # R3946 (G1)
Quality Score 225
Status Validated
Chromosome 13
Chromosomal Location 64275280-64312710 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to C at 64309098 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Valine at position 104 (I104V)
Ref Sequence ENSEMBL: ENSMUSP00000152323 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000220895] [ENSMUST00000222570]
AlphaFold Q9D1A0
Predicted Effect probably benign
Transcript: ENSMUST00000021938
SMART Domains Protein: ENSMUSP00000021938
Gene: ENSMUSG00000021482

Pfam:AhpC-TSA 30 151 6.9e-8 PFAM
Pfam:AhpC-TSA_2 77 196 5.3e-24 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000220895
AA Change: I104V

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
Predicted Effect unknown
Transcript: ENSMUST00000221118
AA Change: I73V
Predicted Effect probably benign
Transcript: ENSMUST00000221350
Predicted Effect noncoding transcript
Transcript: ENSMUST00000222286
Predicted Effect probably damaging
Transcript: ENSMUST00000222570
AA Change: I104V

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
Meta Mutation Damage Score 0.6573 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.0%
  • 20x: 94.1%
Validation Efficiency 98% (60/61)
Allele List at MGI
Other mutations in this stock
Total: 61 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abi2 A G 1: 60,453,754 (GRCm38) Q328R probably damaging Het
Agr3 C A 12: 35,947,513 (GRCm38) probably benign Het
Brca2 T A 5: 150,536,704 (GRCm38) S481R probably damaging Het
Cabin1 T G 10: 75,745,259 (GRCm38) Q411P probably damaging Het
Calr3 A G 8: 72,443,620 (GRCm38) Y22H probably damaging Het
Caprin1 T A 2: 103,796,766 (GRCm38) I59F probably damaging Het
Cdk5rap1 T C 2: 154,348,716 (GRCm38) T442A probably damaging Het
Chn2 T C 6: 54,269,426 (GRCm38) probably benign Het
Cic C A 7: 25,272,346 (GRCm38) R501S possibly damaging Het
Coch A G 12: 51,601,812 (GRCm38) probably null Het
Defa25 G A 8: 21,084,490 (GRCm38) V17I probably null Het
Dglucy T C 12: 100,838,700 (GRCm38) probably null Het
Dtx1 T G 5: 120,681,286 (GRCm38) T616P possibly damaging Het
Eef1g T C 19: 8,969,977 (GRCm38) L171P probably benign Het
Fam135a A G 1: 24,030,394 (GRCm38) S465P probably damaging Het
Gm14025 A G 2: 129,039,601 (GRCm38) L135P probably damaging Het
Gm14412 A T 2: 177,314,685 (GRCm38) C472* probably null Het
Gm7104 T C 12: 88,286,042 (GRCm38) noncoding transcript Het
Got2 A G 8: 95,888,230 (GRCm38) S26P probably benign Het
H2-M11 A G 17: 36,549,231 (GRCm38) I329M probably damaging Het
Hmcn2 T A 2: 31,382,394 (GRCm38) D1295E possibly damaging Het
Hoxd12 G T 2: 74,675,427 (GRCm38) R114L probably damaging Het
Ilkap A C 1: 91,387,250 (GRCm38) D124E probably damaging Het
Med6 T C 12: 81,581,851 (GRCm38) Y88C probably damaging Het
Mep1a A T 17: 43,475,041 (GRCm38) L719* probably null Het
Mmp23 T C 4: 155,652,023 (GRCm38) Y187C probably damaging Het
Myo1g A G 11: 6,520,760 (GRCm38) M32T possibly damaging Het
Ncstn T C 1: 172,067,494 (GRCm38) E614G probably benign Het
Nr2c2 C T 6: 92,163,138 (GRCm38) R464W probably damaging Het
Olfr1309 G A 2: 111,983,297 (GRCm38) T259M possibly damaging Het
Otub2 T A 12: 103,392,826 (GRCm38) L58* probably null Het
Pcdhga12 G A 18: 37,767,629 (GRCm38) V505I probably benign Het
Pcdhga9 T A 18: 37,737,844 (GRCm38) V242D probably damaging Het
Pex1 C T 5: 3,626,084 (GRCm38) L891F probably damaging Het
Pgm1 C T 5: 64,112,061 (GRCm38) T497I probably benign Het
Pikfyve T C 1: 65,196,681 (GRCm38) F171L probably damaging Het
Pilrb1 T G 5: 137,857,392 (GRCm38) K79T probably benign Het
Pin1 C T 9: 20,655,364 (GRCm38) R21W probably damaging Het
Ptprq A G 10: 107,686,392 (GRCm38) probably benign Het
Rad17 G A 13: 100,622,863 (GRCm38) A552V possibly damaging Het
Rbbp8 A G 18: 11,718,868 (GRCm38) T249A probably benign Het
Rtkn A T 6: 83,135,976 (GRCm38) I10F probably benign Het
Scube2 T A 7: 109,857,590 (GRCm38) I103F possibly damaging Het
Sec23b A G 2: 144,581,973 (GRCm38) H514R probably benign Het
Serbp1 T A 6: 67,272,220 (GRCm38) D223E probably benign Het
Slc14a1 C A 18: 78,111,392 (GRCm38) V260L probably benign Het
Slc22a23 A G 13: 34,183,126 (GRCm38) I633T probably damaging Het
Stk19 A T 17: 34,824,747 (GRCm38) probably benign Het
Svs2 T C 2: 164,237,127 (GRCm38) M287V probably benign Het
Syne3 T A 12: 104,958,066 (GRCm38) Q358L probably damaging Het
Synj1 A G 16: 91,010,096 (GRCm38) F58L possibly damaging Het
Tg T C 15: 66,674,023 (GRCm38) V198A probably damaging Het
Tle4 A T 19: 14,597,388 (GRCm38) Y9N probably damaging Het
Tmem57 A G 4: 134,804,481 (GRCm38) Y626H probably damaging Het
Tmx3 G A 18: 90,524,335 (GRCm38) A186T possibly damaging Het
Traf3 G A 12: 111,255,245 (GRCm38) S280N possibly damaging Het
Trmt13 A G 3: 116,581,518 (GRCm38) F447S probably damaging Het
Trp53bp1 T A 2: 121,228,626 (GRCm38) H918L probably damaging Het
Ush2a T G 1: 188,728,504 (GRCm38) V2654G probably benign Het
Vmn2r25 A G 6: 123,840,098 (GRCm38) Y175H probably damaging Het
Zfp335 T C 2: 164,892,189 (GRCm38) D1330G probably 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
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
R8830:Aaed1 UTSW 13 64,297,300 (GRCm38) nonsense probably null
Predicted Primers PCR Primer

Sequencing Primer
Posted On 2015-04-17