Incidental Mutation 'IGL02399:Afg3l2'
ID 291814
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Afg3l2
Ensembl Gene ENSMUSG00000024527
Gene Name AFG3-like AAA ATPase 2
Synonyms Emv66, 2310036I02Rik, par
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL02399
Quality Score
Status
Chromosome 18
Chromosomal Location 67537834-67582242 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 67562110 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Isoleucine at position 322 (F322I)
Ref Sequence ENSEMBL: ENSMUSP00000025408 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025408]
AlphaFold Q8JZQ2
Predicted Effect possibly damaging
Transcript: ENSMUST00000025408
AA Change: F322I

PolyPhen 2 Score 0.819 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000025408
Gene: ENSMUSG00000024527
AA Change: F322I

DomainStartEndE-ValueType
low complexity region 95 121 N/A INTRINSIC
Pfam:FtsH_ext 144 241 8.8e-12 PFAM
transmembrane domain 251 270 N/A INTRINSIC
low complexity region 271 286 N/A INTRINSIC
AAA 339 478 1.37e-23 SMART
Pfam:Peptidase_M41 540 743 4e-77 PFAM
low complexity region 780 794 N/A INTRINSIC
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 protein localized in mitochondria and closely related to paraplegin. The paraplegin gene is responsible for an autosomal recessive form of hereditary spastic paraplegia. This gene is a candidate gene for other hereditary spastic paraplegias or neurodegenerative disorders. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for mutations in this gene usually die before weaning. Mice develop progressive paralysis as a result of abnormalities in the axons innervating muscle endplates. Mice homozygous for a conditional allele activated in Purkinje cells exhibit abnormal gait and Purkinje cell degeneration. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abhd12 C T 2: 150,700,413 (GRCm39) probably benign Het
Adarb1 G A 10: 77,131,588 (GRCm39) P624S probably benign Het
Arhgap23 A G 11: 97,381,831 (GRCm39) probably benign Het
Atp13a1 A G 8: 70,259,751 (GRCm39) N1114S probably damaging Het
C3ar1 T C 6: 122,826,838 (GRCm39) N460D probably benign Het
Cacna1e A G 1: 154,279,493 (GRCm39) Y1988H probably damaging Het
Calr T C 8: 85,569,415 (GRCm39) probably benign Het
D5Ertd579e A G 5: 36,773,529 (GRCm39) S289P probably damaging Het
Erbb4 G A 1: 68,081,596 (GRCm39) probably benign Het
Fam98a A G 17: 75,845,936 (GRCm39) probably benign Het
Gm3739 A T 14: 18,505,274 (GRCm39) D83E possibly damaging Het
Gm5420 A T 10: 21,567,071 (GRCm39) noncoding transcript Het
Heatr5b A G 17: 79,135,396 (GRCm39) V245A probably damaging Het
Kptn C A 7: 15,861,038 (GRCm39) probably benign Het
Llgl2 T C 11: 115,735,661 (GRCm39) C86R probably damaging Het
Lrr1 T A 12: 69,215,665 (GRCm39) C12* probably null Het
Mcf2 T C X: 59,180,812 (GRCm39) D255G probably damaging Het
Med13 A T 11: 86,174,771 (GRCm39) probably benign Het
Mthfd1 C T 12: 76,364,406 (GRCm39) T735M probably damaging Het
Nlrp2 C T 7: 5,331,809 (GRCm39) A196T probably damaging Het
Nnmt T C 9: 48,514,838 (GRCm39) I60V probably damaging Het
Odad2 G T 18: 7,285,719 (GRCm39) Q215K probably benign Het
Or4c110 T A 2: 88,832,507 (GRCm39) T42S probably benign Het
Or6ae1 A T 7: 139,742,513 (GRCm39) S117T probably benign Het
P2rx3 T C 2: 84,853,571 (GRCm39) I140V probably benign Het
Patj A G 4: 98,480,173 (GRCm39) N1293D probably damaging Het
Pitpnm2 G A 5: 124,278,821 (GRCm39) probably benign Het
Ppp1r26 T G 2: 28,343,292 (GRCm39) V974G probably benign Het
Prrc2b T A 2: 32,116,973 (GRCm39) L1376* probably null Het
Rab33a T A X: 47,608,584 (GRCm39) I36N probably damaging Het
Rab3gap1 A T 1: 127,855,840 (GRCm39) N493I possibly damaging Het
Scara3 C A 14: 66,170,559 (GRCm39) G107* probably null Het
Siglec1 T C 2: 130,913,098 (GRCm39) E1606G probably benign Het
Skint9 A T 4: 112,246,447 (GRCm39) Y222N possibly damaging Het
Slc47a1 A T 11: 61,253,884 (GRCm39) I185N probably damaging Het
Slc47a2 C A 11: 61,193,020 (GRCm39) probably benign Het
Slc4a2 A G 5: 24,639,711 (GRCm39) I506V probably damaging Het
Slc9a4 A C 1: 40,639,942 (GRCm39) I245L probably benign Het
Smarcb1 T C 10: 75,733,328 (GRCm39) T357A probably damaging Het
Spata31d1d A G 13: 59,877,954 (GRCm39) probably benign Het
Stox2 T A 8: 47,639,573 (GRCm39) I874F probably damaging Het
Taar7b A T 10: 23,876,050 (GRCm39) I72F probably damaging Het
Tacc2 G A 7: 130,225,129 (GRCm39) V605I probably benign Het
Tef T C 15: 81,699,301 (GRCm39) L34P probably damaging Het
Trak2 A G 1: 58,949,204 (GRCm39) V532A probably benign Het
Usp13 T A 3: 32,973,209 (GRCm39) D795E probably damaging Het
Vmn1r32 T A 6: 66,529,913 (GRCm39) I288F probably benign Het
Vmn1r75 T C 7: 11,615,093 (GRCm39) I275T possibly damaging Het
Zfp871 A T 17: 32,993,329 (GRCm39) F615L probably benign Het
Zfp941 G A 7: 140,392,612 (GRCm39) T249M probably benign Het
Zhx1 T C 15: 57,917,137 (GRCm39) I370V probably damaging Het
Other mutations in Afg3l2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00962:Afg3l2 APN 18 67,564,723 (GRCm39) critical splice donor site probably null
IGL01395:Afg3l2 APN 18 67,575,880 (GRCm39) missense probably benign 0.21
IGL01533:Afg3l2 APN 18 67,538,488 (GRCm39) nonsense probably null
IGL01814:Afg3l2 APN 18 67,538,544 (GRCm39) missense probably benign 0.23
IGL01868:Afg3l2 APN 18 67,547,218 (GRCm39) missense possibly damaging 0.83
IGL02827:Afg3l2 APN 18 67,559,015 (GRCm39) missense probably damaging 1.00
IGL03342:Afg3l2 APN 18 67,540,390 (GRCm39) missense probably benign
IGL03392:Afg3l2 APN 18 67,547,139 (GRCm39) splice site probably benign
radicle UTSW 18 67,556,023 (GRCm39) missense probably damaging 1.00
rootlet UTSW 18 67,554,329 (GRCm39) missense probably damaging 1.00
R0057:Afg3l2 UTSW 18 67,556,156 (GRCm39) missense probably damaging 1.00
R0107:Afg3l2 UTSW 18 67,564,836 (GRCm39) missense probably damaging 1.00
R0650:Afg3l2 UTSW 18 67,548,627 (GRCm39) missense possibly damaging 0.77
R0831:Afg3l2 UTSW 18 67,554,297 (GRCm39) missense probably damaging 1.00
R0899:Afg3l2 UTSW 18 67,556,047 (GRCm39) missense possibly damaging 0.65
R0962:Afg3l2 UTSW 18 67,538,497 (GRCm39) missense possibly damaging 0.77
R1672:Afg3l2 UTSW 18 67,540,493 (GRCm39) missense probably benign 0.31
R1815:Afg3l2 UTSW 18 67,548,643 (GRCm39) nonsense probably null
R1838:Afg3l2 UTSW 18 67,547,242 (GRCm39) missense probably damaging 0.99
R2013:Afg3l2 UTSW 18 67,564,842 (GRCm39) missense probably damaging 0.99
R2383:Afg3l2 UTSW 18 67,556,026 (GRCm39) missense possibly damaging 0.91
R2906:Afg3l2 UTSW 18 67,573,292 (GRCm39) missense probably damaging 1.00
R4763:Afg3l2 UTSW 18 67,554,329 (GRCm39) missense probably damaging 1.00
R4765:Afg3l2 UTSW 18 67,554,329 (GRCm39) missense probably damaging 1.00
R4775:Afg3l2 UTSW 18 67,554,329 (GRCm39) missense probably damaging 1.00
R5193:Afg3l2 UTSW 18 67,554,329 (GRCm39) missense probably damaging 1.00
R5196:Afg3l2 UTSW 18 67,554,329 (GRCm39) missense probably damaging 1.00
R5197:Afg3l2 UTSW 18 67,554,329 (GRCm39) missense probably damaging 1.00
R5257:Afg3l2 UTSW 18 67,554,329 (GRCm39) missense probably damaging 1.00
R5361:Afg3l2 UTSW 18 67,554,329 (GRCm39) missense probably damaging 1.00
R5362:Afg3l2 UTSW 18 67,554,329 (GRCm39) missense probably damaging 1.00
R5363:Afg3l2 UTSW 18 67,554,329 (GRCm39) missense probably damaging 1.00
R5397:Afg3l2 UTSW 18 67,554,329 (GRCm39) missense probably damaging 1.00
R5588:Afg3l2 UTSW 18 67,573,277 (GRCm39) missense possibly damaging 0.88
R5605:Afg3l2 UTSW 18 67,575,425 (GRCm39) nonsense probably null
R5696:Afg3l2 UTSW 18 67,540,529 (GRCm39) missense probably damaging 1.00
R5722:Afg3l2 UTSW 18 67,573,269 (GRCm39) missense probably benign 0.44
R5779:Afg3l2 UTSW 18 67,573,513 (GRCm39) missense probably null 0.12
R5972:Afg3l2 UTSW 18 67,554,329 (GRCm39) missense probably damaging 1.00
R5973:Afg3l2 UTSW 18 67,554,329 (GRCm39) missense probably damaging 1.00
R5974:Afg3l2 UTSW 18 67,554,329 (GRCm39) missense probably damaging 1.00
R5979:Afg3l2 UTSW 18 67,554,329 (GRCm39) missense probably damaging 1.00
R5994:Afg3l2 UTSW 18 67,562,140 (GRCm39) missense probably damaging 1.00
R6026:Afg3l2 UTSW 18 67,554,329 (GRCm39) missense probably damaging 1.00
R6027:Afg3l2 UTSW 18 67,554,329 (GRCm39) missense probably damaging 1.00
R6028:Afg3l2 UTSW 18 67,554,329 (GRCm39) missense probably damaging 1.00
R6029:Afg3l2 UTSW 18 67,554,329 (GRCm39) missense probably damaging 1.00
R6033:Afg3l2 UTSW 18 67,554,329 (GRCm39) missense probably damaging 1.00
R6033:Afg3l2 UTSW 18 67,554,329 (GRCm39) missense probably damaging 1.00
R6035:Afg3l2 UTSW 18 67,554,329 (GRCm39) missense probably damaging 1.00
R6035:Afg3l2 UTSW 18 67,554,329 (GRCm39) missense probably damaging 1.00
R6075:Afg3l2 UTSW 18 67,554,329 (GRCm39) missense probably damaging 1.00
R6077:Afg3l2 UTSW 18 67,554,329 (GRCm39) missense probably damaging 1.00
R6081:Afg3l2 UTSW 18 67,554,329 (GRCm39) missense probably damaging 1.00
R6131:Afg3l2 UTSW 18 67,554,329 (GRCm39) missense probably damaging 1.00
R6132:Afg3l2 UTSW 18 67,554,329 (GRCm39) missense probably damaging 1.00
R6134:Afg3l2 UTSW 18 67,554,329 (GRCm39) missense probably damaging 1.00
R6152:Afg3l2 UTSW 18 67,554,329 (GRCm39) missense probably damaging 1.00
R6154:Afg3l2 UTSW 18 67,554,329 (GRCm39) missense probably damaging 1.00
R6169:Afg3l2 UTSW 18 67,554,329 (GRCm39) missense probably damaging 1.00
R6178:Afg3l2 UTSW 18 67,542,598 (GRCm39) missense possibly damaging 0.91
R6187:Afg3l2 UTSW 18 67,554,329 (GRCm39) missense probably damaging 1.00
R6216:Afg3l2 UTSW 18 67,554,329 (GRCm39) missense probably damaging 1.00
R6718:Afg3l2 UTSW 18 67,554,346 (GRCm39) missense probably damaging 1.00
R7388:Afg3l2 UTSW 18 67,556,023 (GRCm39) missense probably damaging 1.00
R8479:Afg3l2 UTSW 18 67,581,986 (GRCm39) missense probably benign 0.05
R8531:Afg3l2 UTSW 18 67,540,439 (GRCm39) missense probably damaging 0.99
R9017:Afg3l2 UTSW 18 67,542,550 (GRCm39) missense possibly damaging 0.81
R9220:Afg3l2 UTSW 18 67,562,266 (GRCm39) missense probably benign
R9222:Afg3l2 UTSW 18 67,567,257 (GRCm39) missense probably benign 0.05
R9371:Afg3l2 UTSW 18 67,567,262 (GRCm39) missense possibly damaging 0.84
R9381:Afg3l2 UTSW 18 67,575,451 (GRCm39) missense probably damaging 1.00
R9562:Afg3l2 UTSW 18 67,554,365 (GRCm39) missense probably damaging 1.00
Z1176:Afg3l2 UTSW 18 67,564,777 (GRCm39) missense probably benign 0.44
Posted On 2015-04-16