Incidental Mutation 'R7067:Afg2a'
ID 548609
Institutional Source Beutler Lab
Gene Symbol Afg2a
Ensembl Gene ENSMUSG00000027722
Gene Name AFG2 AAA ATPase homolog A
Synonyms 2510048F20Rik, Spata5, C78064, Spaf
MMRRC Submission 045163-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R7067 (G1)
Quality Score 225.009
Status Validated
Chromosome 3
Chromosomal Location 37474052-37633245 bp(+) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) C to T at 37485847 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Stop codon at position 190 (Q190*)
Ref Sequence ENSEMBL: ENSMUSP00000143349 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029277] [ENSMUST00000108112] [ENSMUST00000198968]
AlphaFold Q3UMC0
Predicted Effect probably null
Transcript: ENSMUST00000029277
AA Change: Q189*
SMART Domains Protein: ENSMUSP00000029277
Gene: ENSMUSG00000027722
AA Change: Q189*

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 null
Transcript: ENSMUST00000108112
AA Change: Q190*
SMART Domains Protein: ENSMUSP00000103747
Gene: ENSMUSG00000027722
AA Change: Q190*

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 probably null
Transcript: ENSMUST00000198968
AA Change: Q190*
SMART Domains Protein: ENSMUSP00000143349
Gene: ENSMUSG00000027722
AA Change: Q190*

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
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency 98% (62/63)
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: 63 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4932438H23Rik T A 16: 90,852,921 (GRCm39) S72C probably damaging Het
Abca13 A G 11: 9,241,845 (GRCm39) D1236G probably benign Het
Abcc6 T C 7: 45,668,114 (GRCm39) N165D probably benign Het
Aebp1 A G 11: 5,816,431 (GRCm39) probably null Het
Anapc4 A G 5: 53,019,577 (GRCm39) T580A probably benign Het
Apob T C 12: 8,059,423 (GRCm39) I2602T probably damaging Het
Arap2 A G 5: 62,811,387 (GRCm39) probably null Het
Asap3 T A 4: 135,968,673 (GRCm39) probably null Het
Bend4 A G 5: 67,557,611 (GRCm39) Y402H probably damaging Het
Ccn2 A G 10: 24,472,873 (GRCm39) Y261C probably benign Het
Crtc2 A G 3: 90,167,489 (GRCm39) N271S probably benign Het
Csf2rb2 A T 15: 78,176,694 (GRCm39) W233R probably damaging Het
Cyp2u1 G A 3: 131,087,202 (GRCm39) L460F probably damaging Het
Dnm3 A G 1: 162,148,540 (GRCm39) L277P probably damaging Het
Efemp1 A T 11: 28,817,926 (GRCm39) N135I probably damaging Het
Elapor2 G T 5: 9,316,295 (GRCm39) A9S possibly damaging Het
Fsip2 T A 2: 82,811,078 (GRCm39) S2466T possibly damaging Het
Gal3st2 C T 1: 93,802,447 (GRCm39) A276V possibly damaging Het
Gm47985 A T 1: 151,059,241 (GRCm39) D294V unknown Het
Golga1 A T 2: 38,937,731 (GRCm39) D104E probably benign Het
Hnrnpr C T 4: 136,054,704 (GRCm39) A219V probably damaging Het
Hsd3b7 T C 7: 127,399,888 (GRCm39) probably null Het
Hspa8 T C 9: 40,715,921 (GRCm39) I562T probably damaging Het
Htra4 C T 8: 25,523,717 (GRCm39) V283M probably damaging Het
Il36rn C T 2: 24,167,541 (GRCm39) R11* probably null Het
Iqcd A G 5: 120,743,212 (GRCm39) T325A probably damaging Het
Kif23 A T 9: 61,832,271 (GRCm39) M624K probably benign Het
Krt25 G T 11: 99,208,209 (GRCm39) Q340K probably benign Het
Lamp3 T A 16: 19,518,413 (GRCm39) N275Y probably damaging Het
Lpin2 A C 17: 71,551,853 (GRCm39) K789T possibly damaging Het
Mroh2b T C 15: 4,929,986 (GRCm39) I24T probably benign Het
Muc16 T A 9: 18,569,547 (GRCm39) I991F unknown Het
Ntf5 T A 7: 45,065,048 (GRCm39) L60Q probably damaging Het
Nuak1 A G 10: 84,276,158 (GRCm39) S22P possibly damaging Het
Obox8 T C 7: 14,066,979 (GRCm39) T22A possibly damaging Het
Or8k21 T A 2: 86,144,911 (GRCm39) T240S probably damaging Het
Pde8a T C 7: 80,967,074 (GRCm39) V405A probably benign Het
Phc2 T C 4: 128,640,934 (GRCm39) S147P probably benign Het
Pole G T 5: 110,482,084 (GRCm39) G142V probably damaging Het
Poli G A 18: 70,642,488 (GRCm39) Q508* probably null Het
Repin1 T A 6: 48,574,850 (GRCm39) L537* probably null Het
Rictor C T 15: 6,801,635 (GRCm39) S441L probably benign Het
Samd7 G C 3: 30,805,272 (GRCm39) K18N probably benign Het
Slc30a2 T A 4: 134,071,529 (GRCm39) probably null Het
Slit3 A G 11: 35,399,057 (GRCm39) S141G probably benign Het
Spon2 A G 5: 33,371,958 (GRCm39) S283P probably damaging Het
Srgap3 A T 6: 112,734,266 (GRCm39) probably benign Het
Syde2 A G 3: 145,694,019 (GRCm39) D89G probably benign Het
Syne1 A G 10: 5,184,586 (GRCm39) I4099T probably damaging Het
Syt5 T C 7: 4,546,075 (GRCm39) D105G probably benign Het
Tlx3 C T 11: 33,153,204 (GRCm39) G86S probably damaging Het
Trim24 A T 6: 37,934,775 (GRCm39) probably null Het
Umodl1 G A 17: 31,201,246 (GRCm39) V392I probably damaging Het
Unc80 C A 1: 66,685,731 (GRCm39) T2285K possibly damaging Het
Vars1 G A 17: 35,230,455 (GRCm39) V513I probably damaging Het
Vmn1r87 T A 7: 12,865,849 (GRCm39) Q146L probably benign Het
Vmn2r62 T C 7: 42,414,302 (GRCm39) I714V probably benign Het
Xbp1 T A 11: 5,474,275 (GRCm39) S159T probably damaging Het
Xrn1 T A 9: 95,851,565 (GRCm39) H194Q probably damaging Het
Zc3h4 A T 7: 16,162,976 (GRCm39) K459* probably null Het
Zdhhc6 G A 19: 55,292,871 (GRCm39) R292* probably null Het
Zfp383 T A 7: 29,608,071 (GRCm39) M1K probably null Het
Zfp703 A G 8: 27,469,044 (GRCm39) D236G probably damaging 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
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
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'- CTGATACTGTGTGATATATGCCCTC -3'
(R):5'- CAGGGAGTACTCTGTGATGATG -3'

Sequencing Primer
(F):5'- TTTAATCCCAGCACTTGAGAGGC -3'
(R):5'- AGTACTCTGTGATGATGGGCTC -3'
Posted On 2019-05-13