Incidental Mutation 'IGL02744:Spg7'
ID306010
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Spg7
Ensembl Gene ENSMUSG00000000738
Gene NameSPG7, paraplegin matrix AAA peptidase subunit
SynonymsCmar, paraplegin
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.109) question?
Stock #IGL02744
Quality Score
Status
Chromosome8
Chromosomal Location123062942-123097760 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 123093661 bp
ZygosityHeterozygous
Amino Acid Change Phenylalanine to Serine at position 617 (F617S)
Ref Sequence ENSEMBL: ENSMUSP00000119552 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000125975] [ENSMUST00000127664] [ENSMUST00000135991] [ENSMUST00000149248] [ENSMUST00000153285]
Predicted Effect possibly damaging
Transcript: ENSMUST00000125975
AA Change: F512S

PolyPhen 2 Score 0.950 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000120361
Gene: ENSMUSG00000000738
AA Change: F512S

DomainStartEndE-ValueType
low complexity region 17 30 N/A INTRINSIC
Pfam:FtsH_ext 37 137 8.5e-12 PFAM
transmembrane domain 145 167 N/A INTRINSIC
AAA 236 376 1.96e-19 SMART
Pfam:Peptidase_M41 436 641 9.8e-74 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000127664
SMART Domains Protein: ENSMUSP00000118564
Gene: ENSMUSG00000092329

DomainStartEndE-ValueType
Pfam:Glycos_transf_2 104 287 7.4e-31 PFAM
Pfam:Glyco_transf_7C 261 331 4.9e-8 PFAM
RICIN 406 531 9.28e-27 SMART
Predicted Effect unknown
Transcript: ENSMUST00000128234
AA Change: F185S
SMART Domains Protein: ENSMUSP00000120793
Gene: ENSMUSG00000000738
AA Change: F185S

DomainStartEndE-ValueType
Pfam:AAA 1 48 5.8e-10 PFAM
Pfam:Peptidase_M41 110 222 9.7e-43 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000128803
Predicted Effect noncoding transcript
Transcript: ENSMUST00000130787
Predicted Effect possibly damaging
Transcript: ENSMUST00000135991
AA Change: F49S

PolyPhen 2 Score 0.944 (Sensitivity: 0.80; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000118066
Gene: ENSMUSG00000000738
AA Change: F49S

DomainStartEndE-ValueType
Pfam:Peptidase_M41 1 81 2.5e-30 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000142150
Predicted Effect probably damaging
Transcript: ENSMUST00000149248
AA Change: F617S

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000119552
Gene: ENSMUSG00000000738
AA Change: F617S

DomainStartEndE-ValueType
low complexity region 5 60 N/A INTRINSIC
low complexity region 122 135 N/A INTRINSIC
Pfam:FtsH_ext 142 242 3.9e-11 PFAM
transmembrane domain 250 272 N/A INTRINSIC
AAA 341 481 1.96e-19 SMART
Pfam:Peptidase_M41 541 746 7e-75 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000152972
Predicted Effect probably damaging
Transcript: ENSMUST00000153285
AA Change: F580S

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000115039
Gene: ENSMUSG00000000738
AA Change: F580S

DomainStartEndE-ValueType
low complexity region 5 60 N/A INTRINSIC
low complexity region 122 135 N/A INTRINSIC
Pfam:FtsH_ext 142 242 3.8e-11 PFAM
transmembrane domain 250 272 N/A INTRINSIC
AAA 341 481 1.96e-19 SMART
Pfam:Peptidase_M41 515 709 2.5e-68 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000153492
SMART Domains Protein: ENSMUSP00000133602
Gene: ENSMUSG00000000738

DomainStartEndE-ValueType
Pfam:FtsH_ext 1 102 1.3e-12 PFAM
transmembrane domain 110 132 N/A INTRINSIC
PDB:2QZ4|A 165 192 1e-8 PDB
Predicted Effect noncoding transcript
Transcript: ENSMUST00000212364
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 mitochondrial metalloprotease protein that is a member of the AAA family. Members of this protein family share an ATPase domain and have roles in diverse cellular processes including membrane trafficking, intracellular motility, organelle biogenesis, protein folding, and proteolysis. Mutations in this gene cause autosomal recessive spastic paraplegia 7. Two transcript variants encoding distinct isoforms have been identified. [provided by RefSeq, Mar 2014]
PHENOTYPE: Homozygous null mice exhibit impaired motor skills, putativley associated with axonal degeneration in the central and peripheral nervous systems. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930564D02Rik A G 3: 105,078,536 M89V unknown Het
Actl11 C A 9: 107,929,862 H461Q probably benign Het
Aox4 A T 1: 58,255,552 R973S possibly damaging Het
Arhgef10 C T 8: 14,930,198 A146V probably benign Het
Cep350 A T 1: 155,931,533 S713T probably damaging Het
Doxl2 A G 6: 48,975,315 E58G probably benign Het
Epha5 T C 5: 84,107,989 I458V probably benign Het
Galnt17 A G 5: 131,111,775 I168T probably damaging Het
Gli3 T C 13: 15,613,886 probably null Het
Gm11110 T A 17: 57,092,693 probably benign Het
Gm8206 T C 14: 6,022,488 I4V possibly damaging Het
Gm8906 C T 5: 11,505,373 T103I possibly damaging Het
Golga1 A G 2: 39,018,474 S713P probably damaging Het
Ing5 T C 1: 93,816,488 M172T probably damaging Het
Lyn A G 4: 3,738,808 T27A probably benign Het
Olfr1367 A G 13: 21,346,994 Y22C probably damaging Het
Pou5f1 T C 17: 35,509,414 V40A probably damaging Het
Pramef12 A T 4: 144,392,923 L358Q probably damaging Het
Prdm16 A G 4: 154,345,453 L353P probably damaging Het
Psg18 T A 7: 18,349,402 Q276L probably benign Het
Ralgapb A C 2: 158,446,151 Q369H probably damaging Het
Slc44a4 A G 17: 34,927,800 N300D probably damaging Het
Slc6a15 A T 10: 103,418,033 E610V probably benign Het
Slc8a2 T C 7: 16,145,029 V480A possibly damaging Het
Srcap A G 7: 127,534,666 D863G probably damaging Het
Srrm1 G A 4: 135,325,104 P658L unknown Het
Suox T C 10: 128,671,217 E314G probably benign Het
Tln2 T A 9: 67,229,376 K1276* probably null Het
Tmem72 A G 6: 116,695,490 L130P probably damaging Het
Ttll1 T C 15: 83,489,577 Y345C probably benign Het
Ush2a A T 1: 188,358,717 probably null Het
Xpo6 G A 7: 126,108,448 probably benign Het
Zc3h14 A T 12: 98,784,975 Y512F possibly damaging Het
Zfp438 A T 18: 5,214,760 M66K probably benign Het
Other mutations in Spg7
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01862:Spg7 APN 8 123076930 missense probably damaging 1.00
IGL01868:Spg7 APN 8 123090236 critical splice donor site probably null
IGL02551:Spg7 APN 8 123076978 missense probably damaging 1.00
IGL03161:Spg7 APN 8 123087331 missense probably damaging 1.00
IGL03165:Spg7 APN 8 123080812 critical splice donor site probably null
R0729:Spg7 UTSW 8 123070417 missense probably damaging 0.96
R1580:Spg7 UTSW 8 123090238 unclassified probably benign
R1696:Spg7 UTSW 8 123090225 missense probably benign 0.05
R1909:Spg7 UTSW 8 123080741 missense probably benign 0.01
R3751:Spg7 UTSW 8 123087373 missense probably damaging 1.00
R3753:Spg7 UTSW 8 123087373 missense probably damaging 1.00
R3921:Spg7 UTSW 8 123087373 missense probably damaging 1.00
R3976:Spg7 UTSW 8 123079448 missense probably damaging 1.00
R4908:Spg7 UTSW 8 123080655 missense probably damaging 1.00
R4952:Spg7 UTSW 8 123090171 missense probably damaging 1.00
R5392:Spg7 UTSW 8 123087363 missense probably damaging 1.00
R5637:Spg7 UTSW 8 123094575 missense possibly damaging 0.82
R5684:Spg7 UTSW 8 123073884 missense probably damaging 1.00
R5810:Spg7 UTSW 8 123094569 missense possibly damaging 0.94
R6452:Spg7 UTSW 8 123079423 missense possibly damaging 0.54
R6453:Spg7 UTSW 8 123079423 missense possibly damaging 0.54
R6454:Spg7 UTSW 8 123079423 missense possibly damaging 0.54
R6750:Spg7 UTSW 8 123073911 missense probably damaging 1.00
R7090:Spg7 UTSW 8 123091752 critical splice donor site probably null
R7213:Spg7 UTSW 8 123090232 missense probably damaging 1.00
Posted On2015-04-16