Incidental Mutation 'R2896:Spata18'
ID 260792
Institutional Source Beutler Lab
Gene Symbol Spata18
Ensembl Gene ENSMUSG00000029155
Gene Name spermatogenesis associated 18
Synonyms 1700067I02Rik
MMRRC Submission 040484-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.139) question?
Stock # R2896 (G1)
Quality Score 225
Status Validated
Chromosome 5
Chromosomal Location 73808722-73836855 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 73815145 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 85 (S85P)
Ref Sequence ENSEMBL: ENSMUSP00000064308 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000041422] [ENSMUST00000071077] [ENSMUST00000113548] [ENSMUST00000178631]
AlphaFold Q0P557
Predicted Effect probably damaging
Transcript: ENSMUST00000041422
AA Change: S85P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000040922
Gene: ENSMUSG00000029155
AA Change: S85P

DomainStartEndE-ValueType
coiled coil region 178 211 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000071077
AA Change: S85P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000064308
Gene: ENSMUSG00000029155
AA Change: S85P

DomainStartEndE-ValueType
coiled coil region 151 184 N/A INTRINSIC
coiled coil region 210 243 N/A INTRINSIC
Predicted Effect probably benign
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
Meta Mutation Damage Score 0.3551 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.4%
  • 20x: 95.4%
Validation Efficiency 97% (30/31)
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: 30 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abhd14b C T 9: 106,327,313 (GRCm39) R32C probably benign Het
Bpifb4 T G 2: 153,796,357 (GRCm39) probably benign Het
Cachd1 T A 4: 100,828,100 (GRCm39) L616Q probably damaging Het
Cmklr2 T A 1: 63,222,321 (GRCm39) I305L probably benign Het
Crebbp A G 16: 3,956,680 (GRCm39) L381P probably damaging Het
Crygs C T 16: 22,624,301 (GRCm39) G102D possibly damaging Het
Esp6 T A 17: 40,873,834 (GRCm39) M7K possibly damaging Het
Fam83d G A 2: 158,627,898 (GRCm39) R529Q probably damaging Het
Gm26526 T G 7: 39,238,437 (GRCm39) noncoding transcript Het
Gm8374 T A 14: 18,537,084 (GRCm39) R47* probably null Het
Gss A G 2: 155,406,749 (GRCm39) L342P probably damaging Het
Ighv1-67 T A 12: 115,567,595 (GRCm39) T106S probably damaging Het
Kif21b T C 1: 136,081,955 (GRCm39) Y668H possibly damaging Het
Lcmt1 A G 7: 123,020,809 (GRCm39) R245G possibly damaging Het
Lpar6 A G 14: 73,476,716 (GRCm39) K226E probably damaging Het
Or11h23 T C 14: 50,947,973 (GRCm39) F62S probably damaging Het
Pcdh19 TGTCTCCTCCACGTC TGTC X: 132,582,058 (GRCm39) probably null Het
Pdcl A T 2: 37,245,702 (GRCm39) D100E possibly damaging Het
Phkg1 C A 5: 129,893,471 (GRCm39) K326N possibly damaging Het
Ppp4r3c1 A G X: 88,976,005 (GRCm39) M64T possibly damaging Het
Prss1 G A 6: 41,440,639 (GRCm39) W238* probably null Het
Rdh10 A T 1: 16,176,329 (GRCm39) probably null Het
Ror1 T C 4: 99,953,477 (GRCm39) L21P unknown Het
Skint8 A G 4: 111,807,333 (GRCm39) I340V probably null Het
Stard6 G A 18: 70,609,459 (GRCm39) V33I probably benign Het
Ttll3 G T 6: 113,369,683 (GRCm39) A76S probably benign Het
Ttll4 T A 1: 74,724,517 (GRCm39) H562Q possibly damaging Het
Ubn1 A G 16: 4,873,083 (GRCm39) H35R possibly damaging Het
Ubr4 A G 4: 139,182,955 (GRCm39) probably null Het
Zfp456 T C 13: 67,515,416 (GRCm39) R97G possibly damaging Het
Other mutations in Spata18
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00228:Spata18 APN 5 73,815,097 (GRCm39) missense possibly damaging 0.80
IGL01331:Spata18 APN 5 73,827,024 (GRCm39) missense probably damaging 1.00
IGL01394:Spata18 APN 5 73,836,688 (GRCm39) splice site probably null
IGL01994:Spata18 APN 5 73,814,944 (GRCm39) critical splice donor site probably null
IGL02192:Spata18 APN 5 73,829,861 (GRCm39) splice site probably null
IGL02253:Spata18 APN 5 73,825,939 (GRCm39) missense possibly damaging 0.61
IGL03195:Spata18 APN 5 73,828,591 (GRCm39) missense probably damaging 1.00
IGL03204:Spata18 APN 5 73,828,449 (GRCm39) splice site probably benign
ANU74:Spata18 UTSW 5 73,828,456 (GRCm39) missense probably damaging 1.00
R0312:Spata18 UTSW 5 73,824,224 (GRCm39) missense probably benign 0.00
R0557:Spata18 UTSW 5 73,809,013 (GRCm39) missense probably damaging 1.00
R1624:Spata18 UTSW 5 73,826,888 (GRCm39) missense probably damaging 0.98
R1901:Spata18 UTSW 5 73,828,482 (GRCm39) missense probably damaging 1.00
R1937:Spata18 UTSW 5 73,834,307 (GRCm39) missense probably damaging 1.00
R2228:Spata18 UTSW 5 73,824,244 (GRCm39) missense possibly damaging 0.57
R2229:Spata18 UTSW 5 73,824,244 (GRCm39) missense possibly damaging 0.57
R3082:Spata18 UTSW 5 73,836,423 (GRCm39) intron probably benign
R3716:Spata18 UTSW 5 73,824,193 (GRCm39) critical splice acceptor site probably null
R3717:Spata18 UTSW 5 73,824,193 (GRCm39) critical splice acceptor site probably null
R4061:Spata18 UTSW 5 73,828,509 (GRCm39) missense probably damaging 1.00
R4299:Spata18 UTSW 5 73,824,245 (GRCm39) missense probably benign 0.36
R4963:Spata18 UTSW 5 73,836,336 (GRCm39) missense probably damaging 0.96
R5603:Spata18 UTSW 5 73,828,575 (GRCm39) missense probably benign 0.12
R6381:Spata18 UTSW 5 73,832,559 (GRCm39) missense probably damaging 1.00
R6581:Spata18 UTSW 5 73,826,859 (GRCm39) missense probably benign 0.14
R7062:Spata18 UTSW 5 73,816,636 (GRCm39) missense probably benign 0.08
R7591:Spata18 UTSW 5 73,829,759 (GRCm39) missense
R7682:Spata18 UTSW 5 73,826,008 (GRCm39) missense
R7688:Spata18 UTSW 5 73,809,005 (GRCm39) missense probably benign 0.14
R7783:Spata18 UTSW 5 73,825,953 (GRCm39) missense
R8051:Spata18 UTSW 5 73,827,063 (GRCm39) missense
R8765:Spata18 UTSW 5 73,825,992 (GRCm39) missense
R8951:Spata18 UTSW 5 73,828,572 (GRCm39) missense probably damaging 0.99
R9505:Spata18 UTSW 5 73,809,017 (GRCm39) critical splice donor site probably null
R9514:Spata18 UTSW 5 73,829,840 (GRCm39) missense
R9515:Spata18 UTSW 5 73,829,840 (GRCm39) missense
X0061:Spata18 UTSW 5 73,824,202 (GRCm39) missense possibly damaging 0.68
Predicted Primers PCR Primer
(F):5'- TTTGGGATCCTCACAGTGACAG -3'
(R):5'- GCTAACACTGACCATTGAAAGTTAC -3'

Sequencing Primer
(F):5'- TCACAGTGACAGCCCAAGAAGG -3'
(R):5'- TTACCAGTGAGGACCCAGTG -3'
Posted On 2015-01-23