Incidental Mutation 'IGL01868:Spg7'
ID 178635
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Spg7
Ensembl Gene ENSMUSG00000000738
Gene Name SPG7, paraplegin matrix AAA peptidase subunit
Synonyms Cmar, paraplegin, spastic paraplegia 7 homolog (human)
Accession Numbers
Essential gene? Probably non essential (E-score: 0.121) question?
Stock # IGL01868
Quality Score
Status
Chromosome 8
Chromosomal Location 123792247-123824499 bp(+) (GRCm39)
Type of Mutation critical splice donor site (2 bp from exon)
DNA Base Change (assembly) T to C at 123816975 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000119552 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000108868] [ENSMUST00000125975] [ENSMUST00000127664] [ENSMUST00000149248] [ENSMUST00000153285] [ENSMUST00000135991]
AlphaFold Q3ULF4
Predicted Effect probably null
Transcript: ENSMUST00000108868
SMART Domains Protein: ENSMUSP00000104496
Gene: ENSMUSG00000000738

DomainStartEndE-ValueType
low complexity region 5 60 N/A INTRINSIC
low complexity region 122 135 N/A INTRINSIC
Pfam:FtsH_ext 142 242 5.2e-12 PFAM
transmembrane domain 250 272 N/A INTRINSIC
AAA 341 481 1.96e-19 SMART
Pfam:Peptidase_M41 541 746 1.8e-74 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000125975
SMART Domains Protein: ENSMUSP00000120361
Gene: ENSMUSG00000000738

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 probably null
Transcript: ENSMUST00000128234
SMART Domains Protein: ENSMUSP00000120793
Gene: ENSMUSG00000000738

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 probably null
Transcript: ENSMUST00000149248
SMART Domains Protein: ENSMUSP00000119552
Gene: ENSMUSG00000000738

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 noncoding transcript
Transcript: ENSMUST00000142150
Predicted Effect noncoding transcript
Transcript: ENSMUST00000212364
Predicted Effect probably benign
Transcript: ENSMUST00000153285
SMART Domains Protein: ENSMUSP00000115039
Gene: ENSMUSG00000000738

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: ENSMUST00000135991
SMART Domains Protein: ENSMUSP00000118066
Gene: ENSMUSG00000000738

DomainStartEndE-ValueType
Pfam:Peptidase_M41 1 81 2.5e-30 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
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: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Afg3l2 G A 18: 67,547,218 (GRCm39) T569M possibly damaging Het
Aldh1l1 A T 6: 90,560,212 (GRCm39) K620* probably null Het
Amdhd2 G T 17: 24,376,504 (GRCm39) T346K probably damaging Het
Arhgap44 T C 11: 64,902,904 (GRCm39) D521G probably damaging Het
Ccdc146 C A 5: 21,538,052 (GRCm39) A91S probably damaging Het
Ccdc187 C A 2: 26,170,960 (GRCm39) R506L probably benign Het
Cd37 T C 7: 44,885,603 (GRCm39) Q128R probably benign Het
Cdh22 T A 2: 164,999,278 (GRCm39) M185L probably damaging Het
Cib2 A T 9: 54,455,759 (GRCm39) N68K probably damaging Het
Ddx46 C T 13: 55,787,683 (GRCm39) R96* probably null Het
Dnajc13 A T 9: 104,039,944 (GRCm39) H2050Q possibly damaging Het
Drgx C A 14: 32,330,334 (GRCm39) F150L probably damaging Het
Duox1 A G 2: 122,168,888 (GRCm39) H1172R probably benign Het
Eftud2 C T 11: 102,759,953 (GRCm39) V132I probably benign Het
Fcrl5 G A 3: 87,351,014 (GRCm39) D87N possibly damaging Het
Gm10718 A T 9: 3,025,118 (GRCm39) Y194F probably benign Het
Gm5862 A C 5: 26,227,769 (GRCm39) W41G probably benign Het
Kat6a T C 8: 23,416,471 (GRCm39) F660L probably damaging Het
Lipo2 T C 19: 33,708,238 (GRCm39) M259V probably benign Het
Lrrcc1 T A 3: 14,619,417 (GRCm39) L90* probably null Het
Lsm1 G A 8: 26,283,821 (GRCm39) probably null Het
Luzp1 T C 4: 136,270,048 (GRCm39) I757T probably damaging Het
Micall1 A G 15: 78,999,260 (GRCm39) I76V probably benign Het
Mmp21 A T 7: 133,277,643 (GRCm39) D394E probably damaging Het
Mtfr1l T C 4: 134,258,018 (GRCm39) D68G probably null Het
Necab2 A G 8: 120,189,315 (GRCm39) S162G probably benign Het
Or11a4 A T 17: 37,536,043 (GRCm39) Q9L probably benign Het
Or4c100 T C 2: 88,356,059 (GRCm39) V44A possibly damaging Het
Or51b17 G A 7: 103,542,583 (GRCm39) R120* probably null Het
Or6n1 C T 1: 173,916,936 (GRCm39) T110I possibly damaging Het
Pde7b A T 10: 20,282,911 (GRCm39) C376* probably null Het
Pira12 G A 7: 3,900,174 (GRCm39) Q143* probably null Het
Plcb2 A G 2: 118,540,071 (GRCm39) L1074P probably damaging Het
Plcb2 G T 2: 118,541,868 (GRCm39) T914N probably benign Het
Prph C A 15: 98,954,224 (GRCm39) D207E probably damaging Het
Rbp4 C A 19: 38,112,968 (GRCm39) R37L probably damaging Het
Ryr3 T C 2: 112,633,503 (GRCm39) probably benign Het
Sardh T G 2: 27,117,159 (GRCm39) Q496P probably benign Het
Serpina1f T A 12: 103,659,704 (GRCm39) N193Y probably benign Het
Slc10a7 G A 8: 79,423,965 (GRCm39) probably null Het
Sphkap T C 1: 83,258,120 (GRCm39) probably null Het
Tas2r121 T A 6: 132,677,235 (GRCm39) I246L probably benign Het
Tbc1d9b T C 11: 50,052,460 (GRCm39) F889S probably damaging Het
Tcp10a T C 17: 7,597,263 (GRCm39) M140T possibly damaging Het
Tctn2 G A 5: 124,754,591 (GRCm39) noncoding transcript Het
Tfap2b G T 1: 19,284,506 (GRCm39) R138L probably damaging Het
Tnrc18 T C 5: 142,757,567 (GRCm39) T985A unknown Het
Treml1 G A 17: 48,673,035 (GRCm39) V211I probably benign Het
Ubr4 C T 4: 139,139,989 (GRCm39) Q1191* probably null Het
Vim G A 2: 13,583,249 (GRCm39) R217H possibly damaging Het
Vmn2r129 C T 4: 156,690,549 (GRCm39) noncoding transcript Het
Vmn2r77 A G 7: 86,452,224 (GRCm39) D468G probably benign Het
Vmn2r98 G T 17: 19,286,548 (GRCm39) V349F probably benign Het
Vwa7 A T 17: 35,240,235 (GRCm39) E401V probably null Het
Zfp119b C A 17: 56,246,866 (GRCm39) V75L possibly damaging Het
Zfp287 C T 11: 62,606,083 (GRCm39) E275K probably benign Het
Other mutations in Spg7
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01862:Spg7 APN 8 123,803,669 (GRCm39) missense probably damaging 1.00
IGL02551:Spg7 APN 8 123,803,717 (GRCm39) missense probably damaging 1.00
IGL02744:Spg7 APN 8 123,820,400 (GRCm39) missense probably damaging 1.00
IGL03161:Spg7 APN 8 123,814,070 (GRCm39) missense probably damaging 1.00
IGL03165:Spg7 APN 8 123,807,551 (GRCm39) critical splice donor site probably null
R0729:Spg7 UTSW 8 123,797,156 (GRCm39) missense probably damaging 0.96
R1580:Spg7 UTSW 8 123,816,977 (GRCm39) unclassified probably benign
R1696:Spg7 UTSW 8 123,816,964 (GRCm39) missense probably benign 0.05
R1909:Spg7 UTSW 8 123,807,480 (GRCm39) missense probably benign 0.01
R3751:Spg7 UTSW 8 123,814,112 (GRCm39) missense probably damaging 1.00
R3753:Spg7 UTSW 8 123,814,112 (GRCm39) missense probably damaging 1.00
R3921:Spg7 UTSW 8 123,814,112 (GRCm39) missense probably damaging 1.00
R3976:Spg7 UTSW 8 123,806,187 (GRCm39) missense probably damaging 1.00
R4908:Spg7 UTSW 8 123,807,394 (GRCm39) missense probably damaging 1.00
R4952:Spg7 UTSW 8 123,816,910 (GRCm39) missense probably damaging 1.00
R5392:Spg7 UTSW 8 123,814,102 (GRCm39) missense probably damaging 1.00
R5637:Spg7 UTSW 8 123,821,314 (GRCm39) missense possibly damaging 0.82
R5684:Spg7 UTSW 8 123,800,623 (GRCm39) missense probably damaging 0.99
R5810:Spg7 UTSW 8 123,821,308 (GRCm39) missense possibly damaging 0.94
R6452:Spg7 UTSW 8 123,806,162 (GRCm39) missense possibly damaging 0.54
R6453:Spg7 UTSW 8 123,806,162 (GRCm39) missense possibly damaging 0.54
R6454:Spg7 UTSW 8 123,806,162 (GRCm39) missense possibly damaging 0.54
R6750:Spg7 UTSW 8 123,800,650 (GRCm39) missense probably damaging 1.00
R7090:Spg7 UTSW 8 123,818,491 (GRCm39) critical splice donor site probably null
R7213:Spg7 UTSW 8 123,816,971 (GRCm39) missense probably damaging 1.00
R7705:Spg7 UTSW 8 123,800,617 (GRCm39) missense possibly damaging 0.63
R7811:Spg7 UTSW 8 123,824,164 (GRCm39) missense possibly damaging 0.89
R7863:Spg7 UTSW 8 123,815,788 (GRCm39) critical splice donor site probably null
R8375:Spg7 UTSW 8 123,800,568 (GRCm39) missense probably damaging 0.99
R9228:Spg7 UTSW 8 123,807,408 (GRCm39) missense possibly damaging 0.94
R9321:Spg7 UTSW 8 123,803,688 (GRCm39) missense probably benign 0.22
R9508:Spg7 UTSW 8 123,800,623 (GRCm39) missense probably damaging 0.99
Z1177:Spg7 UTSW 8 123,816,962 (GRCm39) missense probably damaging 1.00
Posted On 2014-05-07