Incidental Mutation 'R1773:Spata5'
ID 196786
Institutional Source Beutler Lab
Gene Symbol Spata5
Ensembl Gene ENSMUSG00000027722
Gene Name spermatogenesis associated 5
Synonyms C78064, 2510048F20Rik, Spaf
MMRRC Submission 039804-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R1773 (G1)
Quality Score 225
Status Not validated
Chromosome 3
Chromosomal Location 37419896-37579096 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to C at 37439185 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Leucine at position 515 (F515L)
Ref Sequence ENSEMBL: ENSMUSP00000103747 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029277] [ENSMUST00000108112] [ENSMUST00000198968]
AlphaFold Q3UMC0
Predicted Effect probably damaging
Transcript: ENSMUST00000029277
AA Change: F514L

PolyPhen 2 Score 0.982 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000029277
Gene: ENSMUSG00000027722
AA Change: F514L

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: F515L

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000103747
Gene: ENSMUSG00000027722
AA Change: F515L

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: F515L

PolyPhen 2 Score 0.982 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000143349
Gene: ENSMUSG00000027722
AA Change: F515L

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
  • 1x: 97.5%
  • 3x: 96.9%
  • 10x: 95.4%
  • 20x: 92.9%
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: 96 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310022A10Rik A G 7: 27,580,595 (GRCm38) K334E probably damaging Het
Abca12 A G 1: 71,288,596 (GRCm38) Y1442H probably damaging Het
Acot12 A G 13: 91,757,557 (GRCm38) T79A probably benign Het
Adipoq A C 16: 23,155,238 (GRCm38) Q26P unknown Het
Akap13 T A 7: 75,683,451 (GRCm38) N1582K possibly damaging Het
Alg9 A G 9: 50,779,096 (GRCm38) T133A probably benign Het
Anks3 T C 16: 4,947,294 (GRCm38) T418A probably benign Het
Ano3 A C 2: 110,761,455 (GRCm38) L37R probably damaging Het
Ano9 A G 7: 141,108,378 (GRCm38) F178L possibly damaging Het
Arhgef12 A G 9: 43,005,542 (GRCm38) probably null Het
Arl16 T A 11: 120,465,763 (GRCm38) I137F possibly damaging Het
Brpf1 T A 6: 113,319,931 (GRCm38) S959T possibly damaging Het
C530008M17Rik G T 5: 76,867,205 (GRCm38) A42S possibly damaging Het
Ccdc27 C T 4: 154,041,765 (GRCm38) R89Q unknown Het
Cd109 A C 9: 78,703,724 (GRCm38) Q1207H probably benign Het
Cd14 A T 18: 36,725,304 (GRCm38) V366D possibly damaging Het
Cep290 G A 10: 100,510,573 (GRCm38) V538I probably benign Het
Cep57 G A 9: 13,816,068 (GRCm38) A202V probably damaging Het
Chl1 T C 6: 103,647,331 (GRCm38) probably null Het
Cmah T G 13: 24,417,299 (GRCm38) F29L probably benign Het
Crybg1 A G 10: 43,992,548 (GRCm38) V1378A possibly damaging Het
Cryzl2 A G 1: 157,470,722 (GRCm38) K227R probably benign Het
D130043K22Rik T G 13: 24,882,602 (GRCm38) V794G possibly damaging Het
Ddx4 T A 13: 112,599,902 (GRCm38) T645S probably benign Het
Dhcr7 C T 7: 143,847,458 (GRCm38) R453C possibly damaging Het
Dhx8 T C 11: 101,752,363 (GRCm38) Y754H possibly damaging Het
Dip2b T A 15: 100,193,961 (GRCm38) D860E probably benign Het
Dnah7a T C 1: 53,432,887 (GRCm38) probably null Het
Dst A G 1: 34,291,899 (GRCm38) D6937G probably damaging Het
Dusp1 A G 17: 26,507,107 (GRCm38) I204T probably damaging Het
Dync2h1 T A 9: 7,128,256 (GRCm38) Q1859L probably damaging Het
E4f1 C A 17: 24,446,584 (GRCm38) G328V probably damaging Het
Eml5 T C 12: 98,798,839 (GRCm38) Y1617C probably damaging Het
Espn G T 4: 152,128,229 (GRCm38) P622Q probably damaging Het
Fam184b G A 5: 45,584,334 (GRCm38) P185L possibly damaging Het
Fam71f1 T C 6: 29,334,153 (GRCm38) S335P possibly damaging Het
Fn1 T A 1: 71,637,383 (GRCm38) D563V probably damaging Het
Gad2 A G 2: 22,690,207 (GRCm38) Y540C probably benign Het
Gdf11 T C 10: 128,891,294 (GRCm38) D131G probably damaging Het
Gm19965 T A 1: 116,821,259 (GRCm38) Y223* probably null Het
H2-M10.6 A G 17: 36,812,184 (GRCm38) K3R probably benign Het
Hid1 A G 11: 115,348,510 (GRCm38) Y776H probably damaging Het
Hivep3 A T 4: 120,098,837 (GRCm38) K1450I probably damaging Het
Icam5 T C 9: 21,033,525 (GRCm38) L128P possibly damaging Het
Idnk T C 13: 58,157,712 (GRCm38) V9A probably damaging Het
Il4ra A T 7: 125,567,182 (GRCm38) T33S possibly damaging Het
Ino80 A G 2: 119,418,409 (GRCm38) V990A probably benign Het
Krtap4-9 T C 11: 99,785,570 (GRCm38) probably benign Het
Lrrk2 A G 15: 91,779,981 (GRCm38) I1974V possibly damaging Het
Mcm3ap C T 10: 76,471,160 (GRCm38) A369V probably benign Het
Nek6 A G 2: 38,582,419 (GRCm38) M252V probably benign Het
Nfasc T A 1: 132,610,839 (GRCm38) I443F probably damaging Het
Nme8 T G 13: 19,697,036 (GRCm38) M1L probably damaging Het
Npnt T A 3: 132,904,693 (GRCm38) Q423L possibly damaging Het
Nup133 A T 8: 123,930,983 (GRCm38) C404* probably null Het
Olfr1232 A G 2: 89,325,742 (GRCm38) V146A probably benign Het
Olfr1307 A G 2: 111,944,859 (GRCm38) V199A possibly damaging Het
Olfr1535 T C 13: 21,555,812 (GRCm38) D70G probably damaging Het
Olfr262 T C 19: 12,241,659 (GRCm38) M1V probably null Het
Olfr684 T C 7: 105,156,983 (GRCm38) E233G probably benign Het
Olfr806 A G 10: 129,738,443 (GRCm38) L158S probably damaging Het
Otog T A 7: 46,288,159 (GRCm38) I1764N probably benign Het
Oxa1l A G 14: 54,363,452 (GRCm38) I127M probably benign Het
P4hb C A 11: 120,572,726 (GRCm38) V28F probably damaging Het
Pbld2 C T 10: 63,054,371 (GRCm38) A186V probably benign Het
Pdzph1 G T 17: 58,974,813 (GRCm38) T158K probably damaging Het
Pgm1 T A 5: 64,107,851 (GRCm38) probably null Het
Phip A T 9: 82,876,189 (GRCm38) S1484T probably benign Het
Pikfyve T C 1: 65,246,370 (GRCm38) S923P probably benign Het
Pikfyve T C 1: 65,192,271 (GRCm38) L100P probably damaging Het
Pla2g4e A G 2: 120,244,721 (GRCm38) S63P probably benign Het
Plekhh2 A G 17: 84,599,265 (GRCm38) E1176G probably damaging Het
Prlr T A 15: 10,325,318 (GRCm38) Y192* probably null Het
Pten T A 19: 32,798,072 (GRCm38) C71S probably damaging Het
Rbbp8nl A G 2: 180,281,194 (GRCm38) L202P probably benign Het
Ripor2 T A 13: 24,701,254 (GRCm38) S491T probably benign Het
Robo1 A T 16: 73,004,511 (GRCm38) I1008F probably benign Het
Scg2 T C 1: 79,435,635 (GRCm38) N417S probably benign Het
Scn8a A G 15: 101,039,615 (GRCm38) I1581V probably damaging Het
Slc22a8 T A 19: 8,594,229 (GRCm38) I108N probably damaging Het
Slc9a8 A T 2: 167,471,465 (GRCm38) T416S possibly damaging Het
Spata32 T A 11: 103,208,818 (GRCm38) E287V probably damaging Het
Tgfbrap1 C T 1: 43,075,352 (GRCm38) G196D probably damaging Het
Tgm5 G T 2: 121,077,650 (GRCm38) T15K possibly damaging Het
Tmc1 C T 19: 20,826,501 (GRCm38) probably null Het
Tmem177 T C 1: 119,910,576 (GRCm38) I124M possibly damaging Het
Trim30a A G 7: 104,435,901 (GRCm38) F34S probably damaging Het
Tsn T C 1: 118,305,239 (GRCm38) T112A probably benign Het
Tspyl5 T G 15: 33,686,776 (GRCm38) N341T probably benign Het
Vmn2r108 C T 17: 20,469,073 (GRCm38) C540Y probably damaging Het
Vrtn C T 12: 84,650,224 (GRCm38) R583W probably damaging Het
Wnt1 T C 15: 98,791,757 (GRCm38) S142P probably damaging Het
Wrn A T 8: 33,343,561 (GRCm38) I108N probably damaging Het
Zfhx2 A C 14: 55,072,891 (GRCm38) C733G possibly damaging Het
Zfp219 T C 14: 52,007,106 (GRCm38) T539A probably damaging Het
Zswim8 T A 14: 20,711,530 (GRCm38) M177K probably damaging Het
Other mutations in Spata5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00417:Spata5 APN 3 37,451,802 (GRCm38) missense possibly damaging 0.60
IGL00472:Spata5 APN 3 37,436,644 (GRCm38) missense probably benign
IGL02664:Spata5 APN 3 37,436,665 (GRCm38) missense probably damaging 1.00
IGL02797:Spata5 APN 3 37,458,316 (GRCm38) splice site probably benign
IGL02869:Spata5 APN 3 37,464,545 (GRCm38) missense probably damaging 1.00
IGL02891:Spata5 APN 3 37,426,192 (GRCm38) missense probably damaging 0.97
IGL03065:Spata5 APN 3 37,432,179 (GRCm38) missense possibly damaging 0.75
IGL03121:Spata5 APN 3 37,464,651 (GRCm38) missense probably damaging 1.00
IGL03178:Spata5 APN 3 37,578,783 (GRCm38) missense probably damaging 1.00
R0494:Spata5 UTSW 3 37,432,163 (GRCm38) missense possibly damaging 0.79
R0621:Spata5 UTSW 3 37,432,029 (GRCm38) missense probably benign 0.06
R0908:Spata5 UTSW 3 37,431,623 (GRCm38) splice site probably null
R2016:Spata5 UTSW 3 37,578,762 (GRCm38) missense possibly damaging 0.48
R3714:Spata5 UTSW 3 37,433,209 (GRCm38) missense probably benign
R3836:Spata5 UTSW 3 37,433,643 (GRCm38) missense possibly damaging 0.91
R4548:Spata5 UTSW 3 37,432,027 (GRCm38) missense probably benign 0.03
R4695:Spata5 UTSW 3 37,458,325 (GRCm38) missense probably damaging 1.00
R4758:Spata5 UTSW 3 37,433,236 (GRCm38) missense probably benign 0.01
R5009:Spata5 UTSW 3 37,433,277 (GRCm38) splice site probably benign
R5839:Spata5 UTSW 3 37,464,654 (GRCm38) missense probably damaging 1.00
R6437:Spata5 UTSW 3 37,528,198 (GRCm38) missense probably damaging 1.00
R7067:Spata5 UTSW 3 37,431,698 (GRCm38) nonsense probably null
R7450:Spata5 UTSW 3 37,456,785 (GRCm38) missense probably damaging 1.00
R7889:Spata5 UTSW 3 37,578,810 (GRCm38) missense probably benign 0.01
R7898:Spata5 UTSW 3 37,420,471 (GRCm38) missense probably benign 0.04
R8108:Spata5 UTSW 3 37,431,782 (GRCm38) missense probably benign 0.25
R8511:Spata5 UTSW 3 37,436,748 (GRCm38) missense probably damaging 0.99
R8870:Spata5 UTSW 3 37,448,512 (GRCm38) missense probably benign 0.35
R8941:Spata5 UTSW 3 37,431,993 (GRCm38) missense probably damaging 0.97
R9475:Spata5 UTSW 3 37,431,909 (GRCm38) missense probably benign
R9605:Spata5 UTSW 3 37,451,781 (GRCm38) missense probably damaging 1.00
Z1176:Spata5 UTSW 3 37,431,750 (GRCm38) missense possibly damaging 0.67
Predicted Primers PCR Primer
(F):5'- ccactgcctggctAAAGTTAATAAATGTCT -3'
(R):5'- ACCTGCCTCATTACACAACGCTTTC -3'

Sequencing Primer
(F):5'- aaatccacctgtctctgcc -3'
(R):5'- TACACAACGCTTTCAAGTCTG -3'
Posted On 2014-05-23