Incidental Mutation 'IGL03165:Spg7'
ID411615
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: 0.135) question?
Stock #IGL03165
Quality Score
Status
Chromosome8
Chromosomal Location123062942-123097760 bp(+) (GRCm38)
Type of Mutationcritical splice donor site (2 bp from exon)
DNA Base Change (assembly) T to C at 123080812 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000115039 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000125975] [ENSMUST00000127664] [ENSMUST00000142541] [ENSMUST00000149248] [ENSMUST00000153285]
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: ENSMUST00000142150
Predicted Effect probably benign
Transcript: ENSMUST00000142541
SMART Domains Protein: ENSMUSP00000119017
Gene: ENSMUSG00000000738

DomainStartEndE-ValueType
low complexity region 17 30 N/A INTRINSIC
Pfam:FtsH_ext 37 137 1.2e-12 PFAM
transmembrane domain 145 167 N/A INTRINSIC
PDB:2QZ4|A 200 230 2e-12 PDB
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 probably null
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: 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: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrb3 T C 1: 25,094,394 I334V probably benign Het
Axdnd1 T A 1: 156,378,389 Y519F probably benign Het
C4b A G 17: 34,739,955 F500S probably benign Het
Cacng2 A T 15: 77,995,663 I153N possibly damaging Het
Ces1d T A 8: 93,189,519 H160L probably benign Het
Cnnm3 T G 1: 36,525,232 probably benign Het
Ctnna3 A G 10: 64,945,941 T728A probably damaging Het
Cyp2g1 G A 7: 26,809,776 V92M possibly damaging Het
Dock2 C A 11: 34,687,533 V35F probably damaging Het
Eif2a C A 3: 58,548,628 Y349* probably null Het
Erp44 C T 4: 48,236,872 probably null Het
Flg2 C T 3: 93,214,611 H1363Y unknown Het
Flnc G T 6: 29,449,378 G1425W probably damaging Het
Frem3 A G 8: 80,612,529 N484D probably benign Het
Fstl3 A G 10: 79,779,965 D95G probably benign Het
Gldc A G 19: 30,098,993 S1018P possibly damaging Het
Gstk1 T G 6: 42,249,434 I159S probably benign Het
Herc2 A G 7: 56,191,912 E3513G probably damaging Het
Hpca A T 4: 129,118,590 I51N probably damaging Het
Hsd17b7 C T 1: 169,953,080 E320K probably damaging Het
Igkv4-74 T C 6: 69,185,305 probably benign Het
Kdm7a C A 6: 39,170,914 probably benign Het
Olfr1040 A C 2: 86,146,068 L222R possibly damaging Het
Olfr382 A T 11: 73,516,884 L105* probably null Het
Olfr619 T C 7: 103,604,011 I119T probably damaging Het
Pa2g4 A T 10: 128,559,060 probably null Het
Pdlim3 T A 8: 45,918,998 L360Q possibly damaging Het
Pkd1l2 G A 8: 117,065,745 T436I probably benign Het
Polk T A 13: 96,516,688 Q68L probably benign Het
Ppfia2 T G 10: 106,767,487 L195R probably damaging Het
Ranbp1 A T 16: 18,247,281 probably benign Het
Rbm12b1 A G 4: 12,145,845 R606G possibly damaging Het
Ryr1 A G 7: 29,105,040 V488A probably benign Het
Sall2 A T 14: 52,314,168 D521E probably damaging Het
Sntg1 A T 1: 8,445,104 C402S probably damaging Het
Stk31 G A 6: 49,445,264 E750K probably damaging Het
Tlr2 A G 3: 83,837,948 I276T probably benign Het
Trav12-2 A T 14: 53,616,749 H60L probably benign Het
Urb1 A G 16: 90,780,304 L775S probably damaging Het
Utp14b A G 1: 78,664,520 D45G probably damaging 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
IGL02744:Spg7 APN 8 123093661 missense probably damaging 1.00
IGL03161:Spg7 APN 8 123087331 missense probably damaging 1.00
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
R7705:Spg7 UTSW 8 123073878 missense possibly damaging 0.63
R7811:Spg7 UTSW 8 123097425 missense possibly damaging 0.89
R7863:Spg7 UTSW 8 123089049 critical splice donor site probably null
R7946:Spg7 UTSW 8 123089049 critical splice donor site probably null
Z1177:Spg7 UTSW 8 123090223 missense probably damaging 1.00
Posted On2016-08-02