Incidental Mutation 'R2918:Atg4a-ps'
ID477495
Institutional Source Beutler Lab
Gene Symbol Atg4a-ps
Ensembl Gene ENSMUSG00000087119
Gene Nameautophagy related 4A, pseudogene
Synonyms
MMRRC Submission 040503-MU
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.189) question?
Stock #R2918 (G1)
Quality Score225
Status Not validated
Chromosome3
Chromosomal Location103643954-103646068 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to A at 103645521 bp
ZygosityHeterozygous
Amino Acid Change Alanine to Valine at position 168 (A168V)
Ref Sequence ENSEMBL: ENSMUSP00000143291 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000117271] [ENSMUST00000118563]
Predicted Effect probably damaging
Transcript: ENSMUST00000117271
AA Change: A168V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000143291
Gene: ENSMUSG00000087119
AA Change: A168V

DomainStartEndE-ValueType
Pfam:Peptidase_C54 39 335 6.3e-115 PFAM
low complexity region 381 391 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000118563
SMART Domains Protein: ENSMUSP00000113287
Gene: ENSMUSG00000027849

DomainStartEndE-ValueType
low complexity region 8 18 N/A INTRINSIC
C2 161 265 2.65e-20 SMART
Pfam:C2 294 332 3.5e-2 PFAM
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.2%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 31 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acbd5 A G 2: 23,099,567 N401D probably benign Het
Agtpbp1 T A 13: 59,497,015 D679V possibly damaging Het
Akap8 A G 17: 32,305,648 V558A probably benign Het
Armc4 G A 18: 7,222,625 S548L probably benign Het
Arrdc2 C T 8: 70,837,527 R170Q probably benign Het
Atg10 A T 13: 91,040,908 H94Q probably damaging Het
Crb2 G T 2: 37,783,383 R97L probably benign Het
Dnaja1 C T 4: 40,724,052 A71V possibly damaging Het
Dysf G A 6: 84,186,509 probably null Het
G6pd2 A G 5: 61,809,526 R215G probably damaging Het
Hcn3 A G 3: 89,147,613 S776P probably benign Het
Ift140 C A 17: 25,035,831 N159K possibly damaging Het
Mafa A G 15: 75,747,298 S209P probably benign Het
Mug2 A G 6: 122,074,724 probably null Het
Myh14 T C 7: 44,616,263 D1564G possibly damaging Het
Ncor2 T A 5: 125,025,760 I1792F probably damaging Het
Nod2 T C 8: 88,652,891 F7L probably benign Het
Olfr223 T C 11: 59,589,439 T217A probably benign Het
Olfr24 T A 9: 18,755,479 D52V probably damaging Het
Olfr975 A G 9: 39,950,364 S136P probably benign Het
Pak3 T C X: 143,764,976 V318A probably damaging Het
Pik3ap1 T C 19: 41,302,531 T521A probably benign Het
Pkdcc G C 17: 83,215,949 A162P probably benign Het
Rassf4 A G 6: 116,641,740 V194A probably damaging Het
Scp2d1 T A 2: 144,823,948 I69N probably damaging Het
Spg11 A G 2: 122,075,301 S1288P probably damaging Het
Sptb A G 12: 76,598,758 S2019P probably damaging Het
Stxbp5l A T 16: 37,200,642 L630* probably null Het
Trim41 TTCCTCCTCCTCCTCCTCCTCCTCCTCC TTCCTCCTCCTCCTCCTCCTCCTCC 11: 48,816,257 probably benign Het
Trpc1 C T 9: 95,723,129 R159H probably damaging Het
Zbtb14 C T 17: 69,388,219 P304L probably damaging Het
Other mutations in Atg4a-ps
AlleleSourceChrCoordTypePredicted EffectPPH Score
R3151:Atg4a-ps UTSW 3 103645912 missense probably benign
R4467:Atg4a-ps UTSW 3 103645855 missense probably damaging 1.00
R6376:Atg4a-ps UTSW 3 103645728 nonsense probably null
R6904:Atg4a-ps UTSW 3 103645864 missense probably damaging 1.00
R7048:Atg4a-ps UTSW 3 103645356 missense probably damaging 0.96
R7057:Atg4a-ps UTSW 3 103645980 missense possibly damaging 0.80
R7128:Atg4a-ps UTSW 3 103645747 nonsense probably null
Predicted Primers
Posted On2017-05-15