Incidental Mutation 'IGL01533:Afg3l2'
ID89853
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 #IGL01533
Quality Score
Status
Chromosome18
Chromosomal Location67404767-67449166 bp(-) (GRCm38)
Type of Mutationnonsense
DNA Base Change (assembly) C to A at 67405418 bp
ZygosityHeterozygous
Amino Acid Change Glutamic Acid to Stop codon at position 757 (E757*)
Ref Sequence ENSEMBL: ENSMUSP00000025408 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000001513] [ENSMUST00000025408]
Predicted Effect probably benign
Transcript: ENSMUST00000001513
SMART Domains Protein: ENSMUSP00000001513
Gene: ENSMUSG00000001473

DomainStartEndE-ValueType
Tubulin 47 244 6.2e-66 SMART
Tubulin_C 246 383 3.57e-48 SMART
low complexity region 432 447 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000025408
AA Change: E757*
SMART Domains Protein: ENSMUSP00000025408
Gene: ENSMUSG00000024527
AA Change: E757*

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: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arhgap15 T C 2: 44,243,153 V357A probably damaging Het
Asb13 T C 13: 3,642,164 V48A probably benign Het
Bbs7 T C 3: 36,610,235 R74G possibly damaging Het
Capn11 T C 17: 45,632,904 H568R probably benign Het
Cbx5 T C 15: 103,205,634 E61G probably damaging Het
Ccdc158 T C 5: 92,609,956 probably null Het
Col14a1 C A 15: 55,420,840 N832K unknown Het
Cyp2a4 A T 7: 26,308,544 K125N probably damaging Het
Dhx16 T C 17: 35,882,047 L215P probably damaging Het
Dtx4 T C 19: 12,478,215 M480V possibly damaging Het
Edaradd A G 13: 12,478,582 probably benign Het
Galnt13 T A 2: 54,880,132 M312K probably damaging Het
Gcdh T A 8: 84,889,362 R337W probably damaging Het
Gm28557 A T 13: 67,071,332 C109* probably null Het
Gpr22 C T 12: 31,708,710 probably benign Het
Gria4 T G 9: 4,502,395 L379F probably damaging Het
Gxylt2 T C 6: 100,783,137 L211P probably damaging Het
Igsf10 T A 3: 59,319,230 I2341F probably damaging Het
Macf1 T C 4: 123,473,873 D2365G probably damaging Het
Morc2b A G 17: 33,135,721 probably benign Het
Ncoa3 T C 2: 166,055,025 S579P probably benign Het
Nlgn1 T C 3: 25,436,363 N400S possibly damaging Het
Olfr1141 C A 2: 87,753,068 R308S probably benign Het
Olfr146 C T 9: 39,018,801 A247T probably damaging Het
Pi4ka A G 16: 17,308,201 S1102P probably benign Het
Polr1e A G 4: 45,019,328 Y59C probably damaging Het
Prex2 C T 1: 11,186,741 Q1226* probably null Het
Rab12 A T 17: 66,497,435 I176K probably damaging Het
Ryr2 A T 13: 11,721,790 N2250K probably damaging Het
Sbf1 T C 15: 89,288,716 T1865A probably damaging Het
Sema6b G A 17: 56,129,499 probably benign Het
Smarcb1 C T 10: 75,916,768 probably null Het
Sos1 A G 17: 80,415,082 L845S probably damaging Het
Stat4 T A 1: 52,098,419 N456K probably damaging Het
Tex264 A G 9: 106,673,599 I133T probably benign Het
Thoc1 T C 18: 9,962,376 V87A probably benign Het
Tmem131 C T 1: 36,818,722 D778N probably damaging Het
Tspan14 A G 14: 40,916,819 I88T probably benign Het
Ttn A G 2: 76,951,941 S984P probably damaging Het
Ttn C A 2: 76,732,574 V28679L possibly damaging Het
Vangl1 T C 3: 102,163,351 E423G possibly 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
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
IGL03392:Afg3l2 APN 18 67414069 splice site 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 On2013-12-03