Incidental Mutation 'R2016:Afg2a'
ID 222976
Institutional Source Beutler Lab
Gene Symbol Afg2a
Ensembl Gene ENSMUSG00000027722
Gene Name AFG2 AAA ATPase homolog A
Synonyms 2510048F20Rik, Spata5, C78064, Spaf
MMRRC Submission 040025-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R2016 (G1)
Quality Score 225
Status Not validated
Chromosome 3
Chromosomal Location 37474052-37633245 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 37632911 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 839 (V839A)
Ref Sequence ENSEMBL: ENSMUSP00000103747 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029277] [ENSMUST00000108112] [ENSMUST00000198968]
AlphaFold Q3UMC0
Predicted Effect probably benign
Transcript: ENSMUST00000029277
AA Change: V838A

PolyPhen 2 Score 0.201 (Sensitivity: 0.92; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000029277
Gene: ENSMUSG00000027722
AA Change: V838A

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 possibly damaging
Transcript: ENSMUST00000108112
AA Change: V839A

PolyPhen 2 Score 0.484 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000103747
Gene: ENSMUSG00000027722
AA Change: V839A

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: ENSMUST00000132958
Predicted Effect probably benign
Transcript: ENSMUST00000198968
SMART Domains Protein: ENSMUSP00000143349
Gene: ENSMUSG00000027722

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000200093
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 97.0%
  • 20x: 94.5%
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: 82 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700025C18Rik T C 2: 164,920,946 (GRCm39) D29G unknown Het
Abca13 A T 11: 9,240,619 (GRCm39) L827F probably damaging Het
Abca8a A G 11: 109,961,213 (GRCm39) F570L probably damaging Het
Adck1 T A 12: 88,427,862 (GRCm39) I493N probably damaging Het
Adra2c T C 5: 35,437,656 (GRCm39) C143R probably damaging Het
Akap13 C T 7: 75,354,279 (GRCm39) T1800M probably damaging Het
Angpt2 T C 8: 18,755,747 (GRCm39) N240S probably damaging Het
Apob G A 12: 8,057,751 (GRCm39) D2078N possibly damaging Het
Atp8b1 T C 18: 64,673,405 (GRCm39) N989S probably damaging Het
B3gnt2 T C 11: 22,786,621 (GRCm39) D189G probably damaging Het
Bcam G A 7: 19,494,274 (GRCm39) T374M probably benign Het
Blm T C 7: 80,155,674 (GRCm39) D335G probably benign Het
Cbfa2t2 T C 2: 154,359,727 (GRCm39) L264P probably damaging Het
Col4a2 T C 8: 11,495,086 (GRCm39) F1515L probably benign Het
Csf2ra T G 19: 61,215,331 (GRCm39) M95L probably benign Het
Cyp2c70 T A 19: 40,152,856 (GRCm39) T300S possibly damaging Het
Cyp4f15 A T 17: 32,921,133 (GRCm39) H440L probably damaging Het
Dcaf1 T A 9: 106,716,287 (GRCm39) D360E probably benign Het
Ddr2 T C 1: 169,812,537 (GRCm39) M652V probably damaging Het
Dnah2 T A 11: 69,327,896 (GRCm39) I3370F probably damaging Het
Dpysl5 G A 5: 30,948,941 (GRCm39) D399N probably damaging Het
Efemp1 G T 11: 28,871,613 (GRCm39) R376L probably damaging Het
Efl1 A C 7: 82,402,917 (GRCm39) D673A probably damaging Het
Eid1 A G 2: 125,515,121 (GRCm39) M4V probably benign Het
Emc10 G A 7: 44,142,616 (GRCm39) R109W probably damaging Het
Emilin3 G A 2: 160,751,530 (GRCm39) R170C possibly damaging Het
Erap1 T C 13: 74,812,270 (GRCm39) W362R probably damaging Het
Fam234a A G 17: 26,437,290 (GRCm39) F91L probably benign Het
Flnc G A 6: 29,443,796 (GRCm39) probably null Het
Fsip2 A G 2: 82,813,076 (GRCm39) K3132E possibly damaging Het
Garin5b A T 7: 4,762,397 (GRCm39) I244N probably damaging Het
Gm10608 CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA 9: 118,989,784 (GRCm39) probably benign Het
Gnl3 A G 14: 30,738,326 (GRCm39) probably null Het
Has1 A T 17: 18,068,532 (GRCm39) I274N probably damaging Het
Ift70a1 A G 2: 75,811,801 (GRCm39) L94P probably benign Het
Itsn1 T C 16: 91,702,389 (GRCm39) probably null Het
Kcnh8 GAGACCAACGAGCAGCTGATGCTTCAGA GAGA 17: 53,032,934 (GRCm39) 74 probably benign Het
Kif13a T C 13: 46,964,275 (GRCm39) D475G probably benign Het
Klhl20 A T 1: 160,930,608 (GRCm39) M298K probably damaging Het
Kynu G T 2: 43,494,289 (GRCm39) G241* probably null Het
Lrif1 G T 3: 106,639,522 (GRCm39) L202F possibly damaging Het
Lrp5 T C 19: 3,660,056 (GRCm39) K1003E probably benign Het
Mamdc2 T C 19: 23,311,393 (GRCm39) D487G probably damaging Het
Mapk8ip1 A G 2: 92,221,379 (GRCm39) probably null Het
Mettl25 T A 10: 105,633,167 (GRCm39) E425D probably benign Het
Midn G T 10: 79,985,949 (GRCm39) R13L possibly damaging Het
Mtmr9 T C 14: 63,777,713 (GRCm39) Y136C possibly damaging Het
Mylk G A 16: 34,817,187 (GRCm39) V61M probably damaging Het
Nalcn T C 14: 123,831,993 (GRCm39) probably null Het
Nle1 G T 11: 82,796,373 (GRCm39) P166Q probably damaging Het
Nr4a3 G A 4: 48,083,252 (GRCm39) C595Y probably damaging Het
Or10d4 A G 9: 39,580,851 (GRCm39) Y166C probably damaging Het
Or4g7 G T 2: 111,309,532 (GRCm39) M134I probably benign Het
Or4l15 A G 14: 50,197,959 (GRCm39) I190T probably benign Het
Or5w1b C T 2: 87,476,396 (GRCm39) V24M probably benign Het
Or8b1 A T 9: 38,399,309 (GRCm39) probably null Het
Pds5a T A 5: 65,805,350 (GRCm39) probably null Het
Pitpnm1 T C 19: 4,161,873 (GRCm39) V955A probably benign Het
Plcb1 T A 2: 135,204,340 (GRCm39) I898N possibly damaging Het
Plcl2 G A 17: 50,913,722 (GRCm39) V244M probably damaging Het
Plk1 A G 7: 121,761,663 (GRCm39) K257R probably damaging Het
Prkcg A T 7: 3,372,066 (GRCm39) T460S probably damaging Het
Prl7d1 G A 13: 27,894,156 (GRCm39) H138Y probably damaging Het
Prss35 A G 9: 86,637,565 (GRCm39) S112G probably benign Het
Ptprj C T 2: 90,294,958 (GRCm39) V417M probably damaging Het
Pwwp2b A T 7: 138,836,067 (GRCm39) I503F possibly damaging Het
Rasgrp2 T C 19: 6,463,195 (GRCm39) V498A probably benign Het
Sall1 A G 8: 89,755,037 (GRCm39) V1314A probably benign Het
Sema6c A G 3: 95,078,545 (GRCm39) I549V probably benign Het
Slc17a1 A G 13: 24,062,522 (GRCm39) S230G probably benign Het
Slc5a4a T G 10: 75,989,414 (GRCm39) F106V probably benign Het
Stat6 T C 10: 127,486,665 (GRCm39) L147P probably damaging Het
Taar7d T A 10: 23,903,642 (GRCm39) S175T probably benign Het
Tasor2 A T 13: 3,626,770 (GRCm39) I1060K probably benign Het
Tmem132b A G 5: 125,700,080 (GRCm39) Q206R probably benign Het
Tmem229a T C 6: 24,955,061 (GRCm39) D231G probably benign Het
Trim66 A G 7: 109,071,439 (GRCm39) probably null Het
Ttll9 A T 2: 152,844,214 (GRCm39) E374V probably damaging Het
Vmn2r69 A T 7: 85,056,493 (GRCm39) D548E probably damaging Het
Zcchc2 T A 1: 105,931,851 (GRCm39) probably null Het
Zfp282 T A 6: 47,874,721 (GRCm39) probably null Het
Zfp352 A G 4: 90,113,408 (GRCm39) E516G 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
IGL02664:Afg2a APN 3 37,490,814 (GRCm39) missense probably damaging 1.00
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
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
Predicted Primers PCR Primer
(F):5'- GCTCATAGTGCAGAAGTCACAC -3'
(R):5'- CTCCAGTGAAGGTATTTCAAACAT -3'

Sequencing Primer
(F):5'- GTCTAATTCCAAATGATCGGCC -3'
(R):5'- CAGTGAAGGTATTTCAAACATTTACC -3'
Posted On 2014-08-25