Incidental Mutation 'IGL01994:Spata18'
ID183640
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: 0.172) question?
Stock #IGL01994
Quality Score
Status
Chromosome5
Chromosomal Location73651379-73679512 bp(+) (GRCm38)
Type of Mutationcritical splice donor site (1 bp from exon)
DNA Base Change (assembly) G to T at 73657601 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000109176 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000041422] [ENSMUST00000071077] [ENSMUST00000113548] [ENSMUST00000178631]
Predicted Effect probably benign
Transcript: ENSMUST00000041422
SMART Domains Protein: ENSMUSP00000040922
Gene: ENSMUSG00000029155

DomainStartEndE-ValueType
coiled coil region 178 211 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000071077
SMART Domains Protein: ENSMUSP00000064308
Gene: ENSMUSG00000029155

DomainStartEndE-ValueType
coiled coil region 151 184 N/A INTRINSIC
coiled coil region 210 243 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000113548
SMART Domains Protein: ENSMUSP00000109176
Gene: ENSMUSG00000029155

DomainStartEndE-ValueType
Pfam:MIEAP 6 195 2e-67 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000178631
SMART Domains Protein: ENSMUSP00000137444
Gene: ENSMUSG00000029155

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: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Actn2 A T 13: 12,290,677 Y418N probably benign Het
Adam15 T C 3: 89,341,505 probably benign Het
Adam32 C A 8: 24,902,796 probably benign Het
Adamts12 T A 15: 11,345,594 C1574S probably damaging Het
Adck1 T C 12: 88,431,156 S187P possibly damaging Het
Atp13a3 A G 16: 30,337,518 V949A possibly damaging Het
Atxn3 T C 12: 101,942,180 T138A probably benign Het
Atxn7l2 C T 3: 108,203,543 R559Q probably damaging Het
Bicra G T 7: 15,972,816 S1233R possibly damaging Het
Cacybp G T 1: 160,206,636 N101K probably damaging Het
Cops7b T C 1: 86,601,106 L185P probably damaging Het
Cttnbp2 T C 6: 18,420,815 D899G possibly damaging Het
Cyp4f37 C T 17: 32,625,176 R85* probably null Het
Dnah3 T G 7: 119,951,214 N3294T possibly damaging Het
Elmo1 T A 13: 20,342,464 Y395N probably damaging Het
Fam234b T A 6: 135,225,205 Y308* probably null Het
Fam43a A G 16: 30,600,663 K22E probably damaging Het
Fcer2a T C 8: 3,688,302 N123D possibly damaging Het
Gm11595 A G 11: 99,772,201 C218R unknown Het
Gria4 T C 9: 4,537,726 Y194C probably damaging Het
Grin2d T C 7: 45,857,972 E435G probably damaging Het
Hectd1 T C 12: 51,797,942 E506G probably damaging Het
Htt G A 5: 34,832,604 S1160N possibly damaging Het
Ift140 A G 17: 25,048,443 E605G probably damaging Het
Il17re T C 6: 113,468,450 V374A probably benign Het
Ippk A G 13: 49,458,617 Q439R possibly damaging Het
Itgam G A 7: 128,101,727 V530M probably damaging Het
Kirrel3 A G 9: 35,020,133 H47R possibly damaging Het
Klk1b24 A T 7: 44,191,633 I162F probably damaging Het
Lama1 A T 17: 67,752,439 T606S probably benign Het
Lama2 C T 10: 27,467,203 probably null Het
Lrp2 A G 2: 69,483,601 I2262T probably benign Het
Mamdc4 A T 2: 25,568,534 I317N possibly damaging Het
Mtmr3 G T 11: 4,487,938 H839N probably benign Het
Ncr1 G T 7: 4,341,254 V177F probably benign Het
Nop58 T C 1: 59,704,083 S219P probably damaging Het
Nrg3 T C 14: 39,012,086 Y281C probably damaging Het
Nsf A G 11: 103,928,782 S54P probably damaging Het
Olfr421-ps1 T A 1: 174,151,536 S7T probably benign Het
Olfr687 A T 7: 105,275,946 noncoding transcript Het
Plxnc1 T C 10: 94,849,939 K730R probably damaging Het
Polr2g A T 19: 8,794,376 probably benign Het
Rps13 A G 7: 116,333,690 probably benign Het
Scgb2b7 A G 7: 31,703,984 I99T probably benign Het
Slc22a27 G T 19: 7,909,743 H260Q possibly damaging Het
Tns2 A G 15: 102,111,379 E560G possibly damaging Het
Trbv16 T C 6: 41,151,781 probably benign Het
Ubr3 T A 2: 70,021,176 I1829N probably damaging Het
Vcl C T 14: 21,003,243 T442I probably damaging Het
Vmn2r102 T A 17: 19,660,469 I24N probably benign Het
Vmn2r114 T C 17: 23,310,477 D217G probably damaging Het
Vmn2r58 A G 7: 41,836,970 Y834H probably damaging Het
Zdhhc8 G T 16: 18,227,772 probably benign 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
IGL02192:Spata18 APN 5 73672518 splice site probably null
IGL02253:Spata18 APN 5 73668596 missense possibly damaging 0.61
IGL03195:Spata18 APN 5 73671248 missense probably damaging 1.00
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 On2014-05-07