Incidental Mutation 'IGL00472:Spata5'
ID6904
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 #IGL00472
Quality Score
Status
Chromosome3
Chromosomal Location37419896-37579096 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 37436644 bp
ZygosityHeterozygous
Amino Acid Change Histidine to Arginine at position 446 (H446R)
Ref Sequence ENSEMBL: ENSMUSP00000143349 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029277] [ENSMUST00000108112] [ENSMUST00000198968]
Predicted Effect probably benign
Transcript: ENSMUST00000029277
AA Change: H445R

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000029277
Gene: ENSMUSG00000027722
AA Change: H445R

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 benign
Transcript: ENSMUST00000108112
AA Change: H446R

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000103747
Gene: ENSMUSG00000027722
AA Change: H446R

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 benign
Transcript: ENSMUST00000198968
AA Change: H446R

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000143349
Gene: ENSMUSG00000027722
AA Change: H446R

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: 16 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Alpk3 C T 7: 81,095,653 probably benign Het
Atp8b1 T A 18: 64,564,430 I448F probably benign Het
C2cd2l A G 9: 44,317,103 L156P probably damaging Het
Cbll1 G A 12: 31,487,833 P308S probably damaging Het
Ccl3 C T 11: 83,648,641 S39N possibly damaging Het
Cnih4 G T 1: 181,162,094 G30C probably damaging Het
Endod1 A T 9: 14,356,753 F479I possibly damaging Het
Gm572 T G 4: 148,667,392 V238G possibly damaging Het
Grhl1 G T 12: 24,612,170 R536L probably damaging Het
Itgae A G 11: 73,113,694 K269R probably benign Het
Nin C A 12: 70,030,088 M1064I probably damaging Het
Pnkd A G 1: 74,285,922 K50E probably damaging Het
Rpl39l A G 16: 10,174,394 M29V probably benign Het
Strip2 C T 6: 29,931,214 A388V probably benign Het
Tex21 A T 12: 76,206,797 N447K probably damaging Het
Zfp760 A G 17: 21,723,476 Y544C possibly damaging Het
Other mutations in Spata5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00417:Spata5 APN 3 37451802 missense possibly damaging 0.60
IGL02664:Spata5 APN 3 37436665 missense probably damaging 1.00
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
Posted On2012-04-20