Incidental Mutation 'IGL03392:Afg3l2'
ID421126
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Afg3l2
Ensembl Gene ENSMUSG00000024527
Gene NameAFG3-like AAA ATPase 2
Synonyms2310036I02Rik, Emv66, par
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL03392
Quality Score
Status
Chromosome18
Chromosomal Location67404767-67449166 bp(-) (GRCm38)
Type of Mutationsplice site
DNA Base Change (assembly) C to A at 67414069 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000025408 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025408]
Predicted Effect probably benign
Transcript: ENSMUST00000025408
SMART Domains Protein: ENSMUSP00000025408
Gene: ENSMUSG00000024527

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: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acss2 T A 2: 155,562,011 D692E probably damaging Het
Adgrb3 T A 1: 25,504,448 R366S probably damaging Het
Cd5 T C 19: 10,726,289 probably benign Het
Cnbd1 A G 4: 18,862,111 S360P probably damaging Het
Col13a1 A T 10: 61,885,711 L305I possibly damaging Het
Commd7 A T 2: 153,622,764 probably benign Het
Cpsf6 A T 10: 117,367,979 Y23N probably damaging Het
Cry1 A G 10: 85,157,129 V75A possibly damaging Het
Cyp2c39 A G 19: 39,513,323 N107D probably benign Het
Dcaf11 T A 14: 55,561,421 V45E probably damaging Het
Dnm2 A G 9: 21,474,611 E310G probably damaging Het
Fat3 T A 9: 16,003,862 I1597L probably benign Het
Fcamr A G 1: 130,800,948 probably benign Het
Fer A G 17: 63,991,642 I529V probably damaging Het
Fhdc1 T C 3: 84,444,519 K1133R possibly damaging Het
Foxd3 A G 4: 99,657,195 K191E probably damaging Het
Fut2 C T 7: 45,650,769 G193E possibly damaging Het
Gbp8 A G 5: 105,016,544 probably null Het
Glb1 T G 9: 114,430,321 N106K probably damaging Het
Hpx A G 7: 105,592,402 I295T probably damaging Het
Ipo5 T A 14: 120,942,687 D844E probably damaging Het
Krt17 T C 11: 100,259,735 I159V possibly damaging Het
Lgi4 G A 7: 31,063,180 probably null Het
Lrrc49 T C 9: 60,666,280 probably benign Het
Ltn1 T C 16: 87,425,611 K178R probably damaging Het
Myh8 T A 11: 67,294,418 W832R probably damaging Het
Nbn A G 4: 15,962,362 N30S probably damaging Het
Olfr1245 A T 2: 89,575,249 V159D probably damaging Het
Olfr1312 T A 2: 112,042,976 N19Y probably benign Het
Olfr137 A G 17: 38,304,895 S189P probably benign Het
Olfr632 T C 7: 103,938,025 V215A probably benign Het
Pcdh15 A T 10: 74,624,272 I1314F probably damaging Het
Phf14 G A 6: 11,962,659 S435N probably damaging Het
Prss45 T A 9: 110,840,550 Y231* probably null Het
Pus7l T C 15: 94,536,568 D339G probably damaging Het
Sbk2 A G 7: 4,957,409 F254S probably damaging Het
Serpina1b T G 12: 103,732,070 K173N possibly damaging Het
Slc13a5 G A 11: 72,245,178 T469I probably damaging Het
Spon1 A G 7: 114,034,287 E655G probably damaging Het
Sv2b T C 7: 75,156,760 probably null Het
Treh A G 9: 44,685,931 D514G probably damaging Het
Umodl1 T A 17: 30,996,355 L1051Q probably damaging Het
Usp5 A G 6: 124,826,387 F4S probably damaging Het
Vmn1r16 A G 6: 57,322,894 S248P probably damaging Het
Other mutations in Afg3l2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00962:Afg3l2 APN 18 67431653 critical splice donor site probably null
IGL01395:Afg3l2 APN 18 67442810 missense probably benign 0.21
IGL01533:Afg3l2 APN 18 67405418 nonsense probably null
IGL01814:Afg3l2 APN 18 67405474 missense probably benign 0.23
IGL01868:Afg3l2 APN 18 67414148 missense possibly damaging 0.83
IGL02399:Afg3l2 APN 18 67429040 missense possibly damaging 0.82
IGL02827:Afg3l2 APN 18 67425945 missense probably damaging 1.00
IGL03342:Afg3l2 APN 18 67407320 missense probably benign
radicle UTSW 18 67422953 missense probably damaging 1.00
rootlet UTSW 18 67421259 missense probably damaging 1.00
R0057:Afg3l2 UTSW 18 67423086 missense probably damaging 1.00
R0107:Afg3l2 UTSW 18 67431766 missense probably damaging 1.00
R0650:Afg3l2 UTSW 18 67415557 missense possibly damaging 0.77
R0831:Afg3l2 UTSW 18 67421227 missense probably damaging 1.00
R0899:Afg3l2 UTSW 18 67422977 missense possibly damaging 0.65
R0962:Afg3l2 UTSW 18 67405427 missense possibly damaging 0.77
R1672:Afg3l2 UTSW 18 67407423 missense probably benign 0.31
R1815:Afg3l2 UTSW 18 67415573 nonsense probably null
R1838:Afg3l2 UTSW 18 67414172 missense probably damaging 0.99
R2013:Afg3l2 UTSW 18 67431772 missense probably damaging 0.99
R2383:Afg3l2 UTSW 18 67422956 missense possibly damaging 0.91
R2906:Afg3l2 UTSW 18 67440222 missense probably damaging 1.00
R4763:Afg3l2 UTSW 18 67421259 missense probably damaging 1.00
R4765:Afg3l2 UTSW 18 67421259 missense probably damaging 1.00
R4775:Afg3l2 UTSW 18 67421259 missense probably damaging 1.00
R5193:Afg3l2 UTSW 18 67421259 missense probably damaging 1.00
R5196:Afg3l2 UTSW 18 67421259 missense probably damaging 1.00
R5197:Afg3l2 UTSW 18 67421259 missense probably damaging 1.00
R5257:Afg3l2 UTSW 18 67421259 missense probably damaging 1.00
R5361:Afg3l2 UTSW 18 67421259 missense probably damaging 1.00
R5362:Afg3l2 UTSW 18 67421259 missense probably damaging 1.00
R5363:Afg3l2 UTSW 18 67421259 missense probably damaging 1.00
R5397:Afg3l2 UTSW 18 67421259 missense probably damaging 1.00
R5588:Afg3l2 UTSW 18 67440207 missense possibly damaging 0.88
R5605:Afg3l2 UTSW 18 67442355 nonsense probably null
R5696:Afg3l2 UTSW 18 67407459 missense probably damaging 1.00
R5722:Afg3l2 UTSW 18 67440199 missense probably benign 0.44
R5779:Afg3l2 UTSW 18 67440443 missense probably null 0.12
R5972:Afg3l2 UTSW 18 67421259 missense probably damaging 1.00
R5973:Afg3l2 UTSW 18 67421259 missense probably damaging 1.00
R5974:Afg3l2 UTSW 18 67421259 missense probably damaging 1.00
R5979:Afg3l2 UTSW 18 67421259 missense probably damaging 1.00
R5994:Afg3l2 UTSW 18 67429070 missense probably damaging 1.00
R6026:Afg3l2 UTSW 18 67421259 missense probably damaging 1.00
R6027:Afg3l2 UTSW 18 67421259 missense probably damaging 1.00
R6028:Afg3l2 UTSW 18 67421259 missense probably damaging 1.00
R6029:Afg3l2 UTSW 18 67421259 missense probably damaging 1.00
R6033:Afg3l2 UTSW 18 67421259 missense probably damaging 1.00
R6033:Afg3l2 UTSW 18 67421259 missense probably damaging 1.00
R6035:Afg3l2 UTSW 18 67421259 missense probably damaging 1.00
R6035:Afg3l2 UTSW 18 67421259 missense probably damaging 1.00
R6075:Afg3l2 UTSW 18 67421259 missense probably damaging 1.00
R6077:Afg3l2 UTSW 18 67421259 missense probably damaging 1.00
R6081:Afg3l2 UTSW 18 67421259 missense probably damaging 1.00
R6131:Afg3l2 UTSW 18 67421259 missense probably damaging 1.00
R6132:Afg3l2 UTSW 18 67421259 missense probably damaging 1.00
R6134:Afg3l2 UTSW 18 67421259 missense probably damaging 1.00
R6152:Afg3l2 UTSW 18 67421259 missense probably damaging 1.00
R6154:Afg3l2 UTSW 18 67421259 missense probably damaging 1.00
R6169:Afg3l2 UTSW 18 67421259 missense probably damaging 1.00
R6178:Afg3l2 UTSW 18 67409528 missense possibly damaging 0.91
R6187:Afg3l2 UTSW 18 67421259 missense probably damaging 1.00
R6216:Afg3l2 UTSW 18 67421259 missense probably damaging 1.00
R6718:Afg3l2 UTSW 18 67421276 missense probably damaging 1.00
R7388:Afg3l2 UTSW 18 67422953 missense probably damaging 1.00
Z1176:Afg3l2 UTSW 18 67431707 missense probably benign 0.44
Posted On2016-08-02