Incidental Mutation 'IGL02664:Spata5'
ID302676
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Spata5
Ensembl Gene ENSMUSG00000027722
Gene Namespermatogenesis associated 5
SynonymsC78064, 2510048F20Rik, Spaf
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL02664
Quality Score
Status
Chromosome3
Chromosomal Location37419896-37579096 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 37436665 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Glycine at position 453 (D453G)
Ref Sequence ENSEMBL: ENSMUSP00000103747 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029277] [ENSMUST00000108112] [ENSMUST00000198968]
Predicted Effect probably damaging
Transcript: ENSMUST00000029277
AA Change: D452G

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000029277
Gene: ENSMUSG00000027722
AA Change: D452G

DomainStartEndE-ValueType
low complexity region 12 26 N/A INTRINSIC
CDC48_N 44 135 2.47e-1 SMART
low complexity region 276 287 N/A INTRINSIC
AAA 385 524 4.96e-21 SMART
Blast:AAA 553 622 9e-21 BLAST
AAA 659 797 2.48e-21 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000108112
AA Change: D453G

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000103747
Gene: ENSMUSG00000027722
AA Change: D453G

DomainStartEndE-ValueType
low complexity region 12 26 N/A INTRINSIC
CDC48_N 44 136 1.14e0 SMART
low complexity region 277 288 N/A INTRINSIC
AAA 386 525 4.96e-21 SMART
Blast:AAA 554 623 9e-21 BLAST
AAA 660 798 2.48e-21 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000124347
Predicted Effect noncoding transcript
Transcript: ENSMUST00000142199
Predicted Effect probably damaging
Transcript: ENSMUST00000198968
AA Change: D453G

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000143349
Gene: ENSMUSG00000027722
AA Change: D453G

DomainStartEndE-ValueType
low complexity region 12 26 N/A INTRINSIC
CDC48_N 44 136 8.6e-5 SMART
low complexity region 277 288 N/A INTRINSIC
AAA 386 525 8.2e-23 SMART
Blast:AAA 554 623 7e-21 BLAST
AAA 660 798 4e-23 SMART
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 member of the ATPase associated with diverse activities family, whose members are defined by a highly conserved ATPase domain. Members of this family participate in diverse cellular processes that include membrane fusion, DNA replication, microtubule severing, and protein degradation. The protein encoded by this gene has a putative mitochondrial targeting sequence and has been proposed to function in maintenance of mitochondrial function and integrity during mouse spermatogenesis. Allelic variants in this gene have been associated with epilepsy, hearing loss, and mental retardation syndrome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2016]
Allele List at MGI
Other mutations in this stock
Total: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ablim2 A T 5: 35,849,516 D425V probably damaging Het
Afdn G T 17: 13,852,466 probably benign Het
Ap2a2 C T 7: 141,629,223 T776I probably benign Het
Apcdd1 T C 18: 62,951,820 probably benign Het
Bdp1 A T 13: 100,051,539 Y1513N probably benign Het
Btaf1 T C 19: 36,978,428 probably benign Het
C2cd3 A T 7: 100,419,715 M917L possibly damaging Het
Cmtm6 T C 9: 114,746,545 V174A probably benign Het
Cyp2d12 T A 15: 82,559,334 I448K probably benign Het
Ddb1 A G 19: 10,607,883 I101V probably benign Het
Dicer1 A G 12: 104,705,129 Y961H probably damaging Het
Dnaaf1 T G 8: 119,582,521 I116S probably damaging Het
Ecscr T A 18: 35,721,398 I5F possibly damaging Het
Eftud2 T C 11: 102,841,712 E691G probably damaging Het
Fat2 A G 11: 55,311,096 V384A probably damaging Het
Ftcd T C 10: 76,584,605 M391T probably damaging Het
Gab2 T G 7: 97,304,182 S587R probably damaging Het
Gm18856 G A 13: 13,965,224 probably benign Het
Herc2 A T 7: 56,135,678 R1559* probably null Het
Inpp5f G A 7: 128,664,014 R161H probably damaging Het
Iws1 A T 18: 32,070,164 D31V possibly damaging Het
Klhl2 A T 8: 64,752,767 Y373* probably null Het
Lce6a A T 3: 92,620,300 C67S possibly damaging Het
Lrba A G 3: 86,325,731 I800V possibly damaging Het
Mis18bp1 A C 12: 65,153,880 Y407* probably null Het
Mllt3 A C 4: 88,031,623 W29G probably damaging Het
Mon2 A G 10: 123,009,496 probably benign Het
Mtbp C T 15: 55,619,643 T372M probably benign Het
Nefm A T 14: 68,120,215 probably benign Het
Nf1 A T 11: 79,444,598 probably null Het
Nf1 G A 11: 79,444,599 probably null Het
Ntn1 T A 11: 68,385,469 I218F probably benign Het
Numa1 T G 7: 101,998,902 S613R possibly damaging Het
Olfr305 C T 7: 86,363,603 V245I possibly damaging Het
Pcsk5 A T 19: 17,456,770 D1411E probably damaging Het
Ppp1r32 A T 19: 10,482,291 S17R probably damaging Het
Prl2b1 G T 13: 27,385,242 N124K possibly damaging Het
Rab15 T C 12: 76,804,451 I30M possibly damaging Het
Rnf215 G T 11: 4,140,307 V342L probably damaging Het
Togaram2 T A 17: 71,729,239 I908N probably damaging Het
Trim54 A G 5: 31,136,047 N205S probably damaging Het
Ttn G A 2: 76,867,451 T80I possibly damaging Het
Vmn2r106 G A 17: 20,268,082 T685I possibly damaging Het
Vwa5b2 T C 16: 20,595,313 probably benign Het
Zfat A T 15: 68,180,721 I401N probably damaging Het
Zfp40 G A 17: 23,176,986 S209F probably benign Het
Other mutations in Spata5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00417:Spata5 APN 3 37451802 missense possibly damaging 0.60
IGL00472:Spata5 APN 3 37436644 missense probably benign
IGL02797:Spata5 APN 3 37458316 splice site probably benign
IGL02869:Spata5 APN 3 37464545 missense probably damaging 1.00
IGL02891:Spata5 APN 3 37426192 missense probably damaging 0.97
IGL03065:Spata5 APN 3 37432179 missense possibly damaging 0.75
IGL03121:Spata5 APN 3 37464651 missense probably damaging 1.00
IGL03178:Spata5 APN 3 37578783 missense probably damaging 1.00
R0494:Spata5 UTSW 3 37432163 missense possibly damaging 0.79
R0621:Spata5 UTSW 3 37432029 missense probably benign 0.06
R0908:Spata5 UTSW 3 37431623 splice site probably null
R1773:Spata5 UTSW 3 37439185 missense probably damaging 0.99
R2016:Spata5 UTSW 3 37578762 missense possibly damaging 0.48
R3714:Spata5 UTSW 3 37433209 missense probably benign
R3836:Spata5 UTSW 3 37433643 missense possibly damaging 0.91
R4548:Spata5 UTSW 3 37432027 missense probably benign 0.03
R4695:Spata5 UTSW 3 37458325 missense probably damaging 1.00
R4758:Spata5 UTSW 3 37433236 missense probably benign 0.01
R5009:Spata5 UTSW 3 37433277 splice site probably benign
R5839:Spata5 UTSW 3 37464654 missense probably damaging 1.00
R6437:Spata5 UTSW 3 37528198 missense probably damaging 1.00
R7067:Spata5 UTSW 3 37431698 nonsense probably null
R7450:Spata5 UTSW 3 37456785 missense probably damaging 1.00
R7889:Spata5 UTSW 3 37578810 missense probably benign 0.01
R7898:Spata5 UTSW 3 37420471 missense probably benign 0.04
R8108:Spata5 UTSW 3 37431782 missense probably benign 0.25
R8511:Spata5 UTSW 3 37436748 missense probably damaging 0.99
R8870:Spata5 UTSW 3 37448512 missense probably benign 0.35
Z1176:Spata5 UTSW 3 37431750 missense possibly damaging 0.67
Posted On2015-04-16