Incidental Mutation 'IGL03195:Spata18'
ID412777
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Spata18
Ensembl Gene ENSMUSG00000029155
Gene Namespermatogenesis associated 18
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.186) question?
Stock #IGL03195
Quality Score
Status
Chromosome5
Chromosomal Location73651379-73679512 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 73671248 bp
ZygosityHeterozygous
Amino Acid Change Leucine to Glutamine at position 270 (L270Q)
Ref Sequence ENSEMBL: ENSMUSP00000137444 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000041422] [ENSMUST00000071077] [ENSMUST00000113548] [ENSMUST00000178631]
Predicted Effect probably damaging
Transcript: ENSMUST00000041422
AA Change: L352Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000040922
Gene: ENSMUSG00000029155
AA Change: L352Q

DomainStartEndE-ValueType
coiled coil region 178 211 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000071077
AA Change: L384Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000064308
Gene: ENSMUSG00000029155
AA Change: L384Q

DomainStartEndE-ValueType
coiled coil region 151 184 N/A INTRINSIC
coiled coil region 210 243 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000113548
AA Change: L94Q

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000109176
Gene: ENSMUSG00000029155
AA Change: L94Q

DomainStartEndE-ValueType
Pfam:MIEAP 6 195 2e-67 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000178631
AA Change: L270Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000137444
Gene: ENSMUSG00000029155
AA Change: L270Q

DomainStartEndE-ValueType
coiled coil region 151 184 N/A INTRINSIC
coiled coil region 210 243 N/A INTRINSIC
Pfam:MIEAP 296 485 1.2e-65 PFAM
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 p53-inducible protein that is able to induce lysosome-like organelles within mitochondria that eliminate oxidized mitochondrial proteins, thereby contributing to mitochondrial quality control. Dysregulation of mitochondrial quality control is associated with cancer and degenerative diseases. The encoded protein mediates accumulation of the lysosome-like mitochondrial organelles through interaction with B cell lymphoma 2 interacting protein 3 and B cell lymphoma 2 interacting protein 3 like at the outer mitochondrial membrane, which allows translocation of lysosomal proteins to the mitochondrial matrix from the cytosol. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2016]
PHENOTYPE: Homo- or heterozygous KO in mice also carrying one copy of the ApcMin allele leads to increased intestinal adenoma and adenocarcinoma tumor incidence and size. This double mutation and homozygous KO of the gene alone results in lower internal mitochondrial cristae density in small intestinal mucosal epithelium. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb1b A G 5: 8,853,607 D1086G possibly damaging Het
Ahcyl2 T C 6: 29,906,769 probably benign Het
Ankrd42 T A 7: 92,591,858 Q431L probably benign Het
Arhgap12 A T 18: 6,031,766 F592I probably damaging Het
Arhgef28 A G 13: 97,951,563 probably null Het
Boc A G 16: 44,492,821 F560S probably damaging Het
Ccdc81 A T 7: 89,896,708 V96E probably benign Het
Cep162 C T 9: 87,225,786 S517N probably benign Het
Cntnap5a A G 1: 116,157,448 N372S probably benign Het
Dnah7a G A 1: 53,419,607 R3791C probably damaging Het
Fdxr T C 11: 115,276,092 Q57R probably benign Het
G3bp2 A G 5: 92,068,508 probably benign Het
Gm595 T A X: 48,872,948 Q296L possibly damaging Het
Hmcn1 G A 1: 150,802,909 T487I probably benign Het
Kpna7 A T 5: 144,997,037 I282N probably damaging Het
Lif A T 11: 4,269,201 Y160F probably damaging Het
Lrp1b A T 2: 41,471,122 D556E possibly damaging Het
Myom2 G T 8: 15,111,844 E954* probably null Het
Nr6a1 A T 2: 38,742,936 I171N probably damaging Het
Nup210 C A 6: 91,015,850 R1059L probably benign Het
Olfr1109 A T 2: 87,092,569 V276E probably damaging Het
Olfr225 G A 11: 59,613,803 V280M probably damaging Het
Olfr698 A G 7: 106,752,773 I205T probably benign Het
Olfr743 A G 14: 50,533,420 T3A probably benign Het
Olfr987 A T 2: 85,331,520 I126N probably damaging Het
Ostm1 T C 10: 42,698,217 V302A probably damaging Het
Oxct1 A G 15: 4,101,189 M388V possibly damaging Het
Ppp6r2 G A 15: 89,268,555 V300I possibly damaging Het
Prmt1 T C 7: 44,977,571 Y205C probably damaging Het
Slc45a4 A C 15: 73,584,423 V636G possibly damaging Het
Stard9 G A 2: 120,705,802 D4151N probably damaging Het
Thsd7b G A 1: 129,628,909 C334Y probably damaging Het
Tmtc3 C T 10: 100,459,034 V406M probably benign Het
Trpc5 T A X: 144,382,728 M900L probably benign Het
Ttc9c T C 19: 8,815,980 K99E probably benign Het
Vmn1r73 A G 7: 11,757,080 E275G probably damaging Het
Other mutations in Spata18
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00228:Spata18 APN 5 73657754 missense possibly damaging 0.80
IGL01331:Spata18 APN 5 73669681 missense probably damaging 1.00
IGL01394:Spata18 APN 5 73679345 splice site probably null
IGL01994:Spata18 APN 5 73657601 critical splice donor site probably null
IGL02192:Spata18 APN 5 73672518 splice site probably null
IGL02253:Spata18 APN 5 73668596 missense possibly damaging 0.61
IGL03204:Spata18 APN 5 73671106 splice site probably benign
ANU74:Spata18 UTSW 5 73671113 missense probably damaging 1.00
R0312:Spata18 UTSW 5 73666881 missense probably benign 0.00
R0557:Spata18 UTSW 5 73651670 missense probably damaging 1.00
R1624:Spata18 UTSW 5 73669545 missense probably damaging 0.98
R1901:Spata18 UTSW 5 73671139 missense probably damaging 1.00
R1937:Spata18 UTSW 5 73676964 missense probably damaging 1.00
R2228:Spata18 UTSW 5 73666901 missense possibly damaging 0.57
R2229:Spata18 UTSW 5 73666901 missense possibly damaging 0.57
R2896:Spata18 UTSW 5 73657802 missense probably damaging 1.00
R3082:Spata18 UTSW 5 73679080 intron probably benign
R3716:Spata18 UTSW 5 73666850 critical splice acceptor site probably null
R3717:Spata18 UTSW 5 73666850 critical splice acceptor site probably null
R4061:Spata18 UTSW 5 73671166 missense probably damaging 1.00
R4299:Spata18 UTSW 5 73666902 missense probably benign 0.36
R4963:Spata18 UTSW 5 73678993 missense probably damaging 0.96
R5603:Spata18 UTSW 5 73671232 missense probably benign 0.12
R6381:Spata18 UTSW 5 73675216 missense probably damaging 1.00
R6581:Spata18 UTSW 5 73669516 missense probably benign 0.14
R7062:Spata18 UTSW 5 73659293 missense probably benign 0.08
R7591:Spata18 UTSW 5 73672416 missense
R7682:Spata18 UTSW 5 73668665 missense
R7688:Spata18 UTSW 5 73651662 missense probably benign 0.14
R7783:Spata18 UTSW 5 73668610 missense
R8051:Spata18 UTSW 5 73669720 missense
X0061:Spata18 UTSW 5 73666859 missense possibly damaging 0.68
Posted On2016-08-02