Incidental Mutation 'IGL02664:Afg2a'
ID 302676
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Afg2a
Ensembl Gene ENSMUSG00000027722
Gene Name AFG2 AAA ATPase homolog A
Synonyms 2510048F20Rik, Spata5, C78064, Spaf
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL02664
Quality Score
Status
Chromosome 3
Chromosomal Location 37474052-37633245 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 37490814 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 453 (D453G)
Ref Sequence ENSEMBL: ENSMUSP00000103747 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029277] [ENSMUST00000108112] [ENSMUST00000198968]
AlphaFold Q3UMC0
Predicted Effect probably damaging
Transcript: ENSMUST00000029277
AA Change: D452G

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000029277
Gene: ENSMUSG00000027722
AA Change: D452G

DomainStartEndE-ValueType
low complexity region 12 26 N/A INTRINSIC
CDC48_N 44 135 2.47e-1 SMART
low complexity region 276 287 N/A INTRINSIC
AAA 385 524 4.96e-21 SMART
Blast:AAA 553 622 9e-21 BLAST
AAA 659 797 2.48e-21 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000108112
AA Change: D453G

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000103747
Gene: ENSMUSG00000027722
AA Change: D453G

DomainStartEndE-ValueType
low complexity region 12 26 N/A INTRINSIC
CDC48_N 44 136 1.14e0 SMART
low complexity region 277 288 N/A INTRINSIC
AAA 386 525 4.96e-21 SMART
Blast:AAA 554 623 9e-21 BLAST
AAA 660 798 2.48e-21 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000124347
Predicted Effect noncoding transcript
Transcript: ENSMUST00000142199
Predicted Effect probably damaging
Transcript: ENSMUST00000198968
AA Change: D453G

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000143349
Gene: ENSMUSG00000027722
AA Change: D453G

DomainStartEndE-ValueType
low complexity region 12 26 N/A INTRINSIC
CDC48_N 44 136 8.6e-5 SMART
low complexity region 277 288 N/A INTRINSIC
AAA 386 525 8.2e-23 SMART
Blast:AAA 554 623 7e-21 BLAST
AAA 660 798 4e-23 SMART
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the ATPase associated with diverse activities family, whose members are defined by a highly conserved ATPase domain. Members of this family participate in diverse cellular processes that include membrane fusion, DNA replication, microtubule severing, and protein degradation. The protein encoded by this gene has a putative mitochondrial targeting sequence and has been proposed to function in maintenance of mitochondrial function and integrity during mouse spermatogenesis. Allelic variants in this gene have been associated with epilepsy, hearing loss, and mental retardation syndrome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2016]
Allele List at MGI
Other mutations in this stock
Total: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ablim2 A T 5: 36,006,860 (GRCm39) D425V probably damaging Het
Afdn G T 17: 14,072,728 (GRCm39) probably benign Het
Ap2a2 C T 7: 141,209,136 (GRCm39) T776I probably benign Het
Apcdd1 T C 18: 63,084,891 (GRCm39) probably benign Het
Bdp1 A T 13: 100,188,047 (GRCm39) Y1513N probably benign Het
Btaf1 T C 19: 36,955,828 (GRCm39) probably benign Het
C2cd3 A T 7: 100,068,922 (GRCm39) M917L possibly damaging Het
Cmtm6 T C 9: 114,575,613 (GRCm39) V174A probably benign Het
Cyp2d12 T A 15: 82,443,535 (GRCm39) I448K probably benign Het
Ddb1 A G 19: 10,585,247 (GRCm39) I101V probably benign Het
Dicer1 A G 12: 104,671,388 (GRCm39) Y961H probably damaging Het
Dnaaf1 T G 8: 120,309,260 (GRCm39) I116S probably damaging Het
Ecscr T A 18: 35,854,451 (GRCm39) I5F possibly damaging Het
Eftud2 T C 11: 102,732,538 (GRCm39) E691G probably damaging Het
Fat2 A G 11: 55,201,922 (GRCm39) V384A probably damaging Het
Ftcd T C 10: 76,420,439 (GRCm39) M391T probably damaging Het
Gab2 T G 7: 96,953,389 (GRCm39) S587R probably damaging Het
Gm18856 G A 13: 14,139,809 (GRCm39) probably benign Het
Herc2 A T 7: 55,785,426 (GRCm39) R1559* probably null Het
Inpp5f G A 7: 128,265,738 (GRCm39) R161H probably damaging Het
Iws1 A T 18: 32,203,217 (GRCm39) D31V possibly damaging Het
Klhl2 A T 8: 65,205,801 (GRCm39) Y373* probably null Het
Lce6a A T 3: 92,527,607 (GRCm39) C67S possibly damaging Het
Lrba A G 3: 86,233,038 (GRCm39) I800V possibly damaging Het
Mis18bp1 A C 12: 65,200,654 (GRCm39) Y407* probably null Het
Mllt3 A C 4: 87,949,860 (GRCm39) W29G probably damaging Het
Mon2 A G 10: 122,845,401 (GRCm39) probably benign Het
Mtbp C T 15: 55,483,039 (GRCm39) T372M probably benign Het
Nefm A T 14: 68,357,664 (GRCm39) probably benign Het
Nf1 A T 11: 79,335,424 (GRCm39) probably null Het
Nf1 G A 11: 79,335,425 (GRCm39) probably null Het
Ntn1 T A 11: 68,276,295 (GRCm39) I218F probably benign Het
Numa1 T G 7: 101,648,109 (GRCm39) S613R possibly damaging Het
Or14a259 C T 7: 86,012,811 (GRCm39) V245I possibly damaging Het
Pcsk5 A T 19: 17,434,134 (GRCm39) D1411E probably damaging Het
Prl2b1 G T 13: 27,569,225 (GRCm39) N124K possibly damaging Het
Rab15 T C 12: 76,851,225 (GRCm39) I30M possibly damaging Het
Rnf215 G T 11: 4,090,307 (GRCm39) V342L probably damaging Het
Saxo4 A T 19: 10,459,655 (GRCm39) S17R probably damaging Het
Togaram2 T A 17: 72,036,234 (GRCm39) I908N probably damaging Het
Trim54 A G 5: 31,293,391 (GRCm39) N205S probably damaging Het
Ttn G A 2: 76,697,795 (GRCm39) T80I possibly damaging Het
Vmn2r106 G A 17: 20,488,344 (GRCm39) T685I possibly damaging Het
Vwa5b2 T C 16: 20,414,063 (GRCm39) probably benign Het
Zfat A T 15: 68,052,570 (GRCm39) I401N probably damaging Het
Zfp40 G A 17: 23,395,960 (GRCm39) S209F probably benign Het
Other mutations in Afg2a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00417:Afg2a APN 3 37,505,951 (GRCm39) missense possibly damaging 0.60
IGL00472:Afg2a APN 3 37,490,793 (GRCm39) missense probably benign
IGL02797:Afg2a APN 3 37,512,465 (GRCm39) splice site probably benign
IGL02869:Afg2a APN 3 37,518,694 (GRCm39) missense probably damaging 1.00
IGL02891:Afg2a APN 3 37,480,341 (GRCm39) missense probably damaging 0.97
IGL03065:Afg2a APN 3 37,486,328 (GRCm39) missense possibly damaging 0.75
IGL03121:Afg2a APN 3 37,518,800 (GRCm39) missense probably damaging 1.00
IGL03178:Afg2a APN 3 37,632,932 (GRCm39) missense probably damaging 1.00
R0494:Afg2a UTSW 3 37,486,312 (GRCm39) missense possibly damaging 0.79
R0621:Afg2a UTSW 3 37,486,178 (GRCm39) missense probably benign 0.06
R0908:Afg2a UTSW 3 37,485,772 (GRCm39) splice site probably null
R1773:Afg2a UTSW 3 37,493,334 (GRCm39) missense probably damaging 0.99
R2016:Afg2a UTSW 3 37,632,911 (GRCm39) missense possibly damaging 0.48
R3714:Afg2a UTSW 3 37,487,358 (GRCm39) missense probably benign
R3836:Afg2a UTSW 3 37,487,792 (GRCm39) missense possibly damaging 0.91
R4548:Afg2a UTSW 3 37,486,176 (GRCm39) missense probably benign 0.03
R4695:Afg2a UTSW 3 37,512,474 (GRCm39) missense probably damaging 1.00
R4758:Afg2a UTSW 3 37,487,385 (GRCm39) missense probably benign 0.01
R5009:Afg2a UTSW 3 37,487,426 (GRCm39) splice site probably benign
R5839:Afg2a UTSW 3 37,518,803 (GRCm39) missense probably damaging 1.00
R6437:Afg2a UTSW 3 37,582,347 (GRCm39) missense probably damaging 1.00
R7067:Afg2a UTSW 3 37,485,847 (GRCm39) nonsense probably null
R7450:Afg2a UTSW 3 37,510,934 (GRCm39) missense probably damaging 1.00
R7889:Afg2a UTSW 3 37,632,959 (GRCm39) missense probably benign 0.01
R7898:Afg2a UTSW 3 37,474,620 (GRCm39) missense probably benign 0.04
R8108:Afg2a UTSW 3 37,485,931 (GRCm39) missense probably benign 0.25
R8511:Afg2a UTSW 3 37,490,897 (GRCm39) missense probably damaging 0.99
R8870:Afg2a UTSW 3 37,502,661 (GRCm39) missense probably benign 0.35
R8941:Afg2a UTSW 3 37,486,142 (GRCm39) missense probably damaging 0.97
R9475:Afg2a UTSW 3 37,486,058 (GRCm39) missense probably benign
R9605:Afg2a UTSW 3 37,505,930 (GRCm39) missense probably damaging 1.00
Z1176:Afg2a UTSW 3 37,485,899 (GRCm39) missense possibly damaging 0.67
Posted On 2015-04-16