Incidental Mutation 'IGL03342:Afg3l2'
ID 417283
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 # IGL03342
Quality Score
Status
Chromosome 18
Chromosomal Location 67537834-67582242 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 67540390 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 706 (D706E)
Ref Sequence ENSEMBL: ENSMUSP00000025408 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000001513] [ENSMUST00000025408]
AlphaFold Q8JZQ2
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 benign
Transcript: ENSMUST00000025408
AA Change: D706E

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000025408
Gene: ENSMUSG00000024527
AA Change: D706E

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: 63 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca5 G A 11: 110,178,517 (GRCm39) T1152M possibly damaging Het
Abcg2 G T 6: 58,642,120 (GRCm39) R136I probably damaging Het
Acap2 A G 16: 30,924,310 (GRCm39) V641A probably damaging Het
Bbs1 A T 19: 4,947,621 (GRCm39) L311Q probably damaging Het
Cacna1e A G 1: 154,342,690 (GRCm39) probably null Het
Car2 A T 3: 14,960,629 (GRCm39) D129V probably benign Het
Catsper2 T C 2: 121,237,217 (GRCm39) I228V probably damaging Het
Cdhr3 C A 12: 33,101,054 (GRCm39) R452M probably benign Het
Chrm1 A T 19: 8,656,672 (GRCm39) Q459L probably benign Het
Cnbd1 C T 4: 19,098,264 (GRCm39) probably benign Het
Coa7 A G 4: 108,189,426 (GRCm39) D42G probably damaging Het
Ctsz T C 2: 174,270,933 (GRCm39) Y187C possibly damaging Het
Cxcr6 C T 9: 123,639,472 (GRCm39) Q165* probably null Het
Cyp3a11 G A 5: 145,791,927 (GRCm39) P489S probably damaging Het
Cyp4f15 A T 17: 32,916,910 (GRCm39) I276F probably damaging Het
Dsg1b T A 18: 20,542,517 (GRCm39) M1008K probably benign Het
Dsg4 T A 18: 20,584,880 (GRCm39) I198N probably damaging Het
Dtymk C A 1: 93,722,541 (GRCm39) E87D probably benign Het
Dysf T A 6: 84,167,854 (GRCm39) D1749E probably benign Het
Dzip3 G T 16: 48,749,986 (GRCm39) Q1050K probably damaging Het
Echs1 C T 7: 139,690,026 (GRCm39) probably benign Het
Enc1 T A 13: 97,382,978 (GRCm39) I496N possibly damaging Het
Epc2 A T 2: 49,426,658 (GRCm39) Y139F probably benign Het
Exo1 A T 1: 175,719,693 (GRCm39) N246I probably benign Het
Flg2 A G 3: 93,108,542 (GRCm39) K190R probably damaging Het
Gm5424 A T 10: 61,907,971 (GRCm39) noncoding transcript Het
Gpbp1l1 A C 4: 116,431,740 (GRCm39) T133P probably benign Het
Gpr155 A G 2: 73,180,022 (GRCm39) F146S probably damaging Het
Grm1 T A 10: 10,955,715 (GRCm39) I190L probably benign Het
Hif3a C T 7: 16,775,047 (GRCm39) R515H possibly damaging Het
Itprid2 G A 2: 79,490,796 (GRCm39) M971I probably damaging Het
Kdm5b G A 1: 134,530,314 (GRCm39) D442N probably benign Het
Manba A T 3: 135,223,748 (GRCm39) I212F possibly damaging Het
Map3k13 A G 16: 21,710,981 (GRCm39) E88G possibly damaging Het
Mapk7 A G 11: 61,382,216 (GRCm39) L163P probably damaging Het
Med1 A T 11: 98,080,006 (GRCm39) probably null Het
Mtrf1 T A 14: 79,653,312 (GRCm39) probably null Het
Mtrf1 A G 14: 79,653,420 (GRCm39) D365G possibly damaging Het
Mtrf1 C T 14: 79,653,311 (GRCm39) probably benign Het
Myadm C T 7: 3,345,403 (GRCm39) T55I possibly damaging Het
Nlgn1 A T 3: 26,187,411 (GRCm39) I158N probably damaging Het
Nlrc4 A G 17: 74,752,313 (GRCm39) L690P probably damaging Het
Nlrp1a A T 11: 71,013,617 (GRCm39) D544E probably benign Het
Nlrp2 A T 7: 5,320,482 (GRCm39) L20Q probably damaging Het
Or1e30 T A 11: 73,678,309 (GRCm39) S182T probably benign Het
Or8k21 A T 2: 86,145,579 (GRCm39) I17N possibly damaging Het
Or9i16 A G 19: 13,864,801 (GRCm39) Y258H probably damaging Het
Padi3 G A 4: 140,537,909 (GRCm39) Q4* probably null Het
Pfkl A T 10: 77,841,309 (GRCm39) I13K possibly damaging Het
Pinx1 A G 14: 64,157,018 (GRCm39) D315G probably benign Het
Prickle3 A G X: 7,529,735 (GRCm39) D47G probably benign Het
Psmd10 A T X: 139,857,403 (GRCm39) V5E probably damaging Het
Rasgrf2 C A 13: 92,136,098 (GRCm39) V605F probably damaging Het
Smarca1 G T X: 46,981,146 (GRCm39) A84D probably damaging Het
Sp2 A G 11: 96,852,588 (GRCm39) V112A probably damaging Het
Srgap3 G A 6: 112,752,648 (GRCm39) R279C probably damaging Het
Trav21-dv12 T C 14: 54,113,501 (GRCm39) L10P unknown Het
Vmn1r236 A T 17: 21,507,236 (GRCm39) H118L probably benign Het
Vmn2r120 A G 17: 57,816,372 (GRCm39) M661T probably benign Het
Vmn2r17 A T 5: 109,575,782 (GRCm39) I218F probably damaging Het
Vmn2r41 G T 7: 8,141,682 (GRCm39) A594D probably damaging Het
Zc2hc1a A G 3: 7,589,283 (GRCm39) E103G possibly damaging Het
Zfp62 G T 11: 49,106,298 (GRCm39) G130* probably null 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
IGL02399:Afg3l2 APN 18 67,562,110 (GRCm39) missense possibly damaging 0.82
IGL02827:Afg3l2 APN 18 67,559,015 (GRCm39) missense probably damaging 1.00
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 2016-08-02