Incidental Mutation 'H8930:Spata1'
ID542
Institutional Source Beutler Lab
Gene Symbol Spata1
Ensembl Gene ENSMUSG00000028188
Gene Namespermatogenesis associated 1
SynonymsSP-2, 4921536I21Rik
Accession Numbers

Genbank: NM_027617

Is this an essential gene? Probably non essential (E-score: 0.119) question?
Stock #H8930 (G3) of strain frazz
Quality Score
Status Validated
Chromosome3
Chromosomal Location146457196-146499753 bp(-) (GRCm38)
Type of Mutationnonsense
DNA Base Change (assembly) A to T at 146487271 bp
ZygosityHomozygous
Amino Acid Change Leucine to Stop codon at position 155 (L155*)
Ref Sequence ENSEMBL: ENSMUSP00000142800 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029839] [ENSMUST00000093951] [ENSMUST00000197980]
Predicted Effect probably null
Transcript: ENSMUST00000029839
AA Change: L155*
SMART Domains Protein: ENSMUSP00000029839
Gene: ENSMUSG00000028188
AA Change: L155*

DomainStartEndE-ValueType
low complexity region 89 100 N/A INTRINSIC
low complexity region 215 227 N/A INTRINSIC
Pfam:SPATA1_C 279 428 1.7e-56 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000093951
SMART Domains Protein: ENSMUSP00000091483
Gene: ENSMUSG00000028188

DomainStartEndE-ValueType
low complexity region 89 100 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000123421
Predicted Effect noncoding transcript
Transcript: ENSMUST00000197684
Predicted Effect probably null
Transcript: ENSMUST00000197980
AA Change: L155*
SMART Domains Protein: ENSMUSP00000142800
Gene: ENSMUSG00000028188
AA Change: L155*

DomainStartEndE-ValueType
low complexity region 89 100 N/A INTRINSIC
low complexity region 215 227 N/A INTRINSIC
SCOP:d1eq1a_ 267 365 8e-5 SMART
Meta Mutation Damage Score 0.9223 question?
Coding Region Coverage
  • 1x: 77.1%
  • 3x: 50.6%
Het Detection Efficiency25.5%
Validation Efficiency 74% (89/120)
Allele List at MGI
Other mutations in this stock
Total: 7 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Cdc20b A T 13: 113,083,966 I460F probably damaging Homo
Ddx4 A C 13: 112,613,833 probably null Homo
Ick T A 9: 78,150,619 I150N possibly damaging Het
Malt1 T G 18: 65,462,815 Y442* probably null Het
Mtr A G 13: 12,235,460 S346P probably damaging Het
Nup155 T C 15: 8,157,658 V1357A possibly damaging Het
Prl3c1 T A 13: 27,200,706 L46* probably null Het
Other mutations in Spata1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01085:Spata1 APN 3 146476242 missense possibly damaging 0.94
IGL01306:Spata1 APN 3 146487399 nonsense probably null
IGL01537:Spata1 APN 3 146489803 splice site probably benign
IGL02363:Spata1 APN 3 146487364 missense possibly damaging 0.96
IGL02873:Spata1 APN 3 146487367 missense possibly damaging 0.86
IGL02898:Spata1 APN 3 146475339 missense possibly damaging 0.71
IGL03071:Spata1 APN 3 146475334 missense possibly damaging 0.93
IGL03204:Spata1 APN 3 146488679 missense probably benign 0.18
ANU23:Spata1 UTSW 3 146487399 nonsense probably null
R0414:Spata1 UTSW 3 146476188 splice site probably null
R1109:Spata1 UTSW 3 146475298 missense possibly damaging 0.51
R1742:Spata1 UTSW 3 146469623 critical splice donor site probably null
R1816:Spata1 UTSW 3 146481207 missense probably damaging 0.98
R2006:Spata1 UTSW 3 146493683 missense probably benign 0.18
R2851:Spata1 UTSW 3 146487540 missense possibly damaging 0.96
R2852:Spata1 UTSW 3 146487540 missense possibly damaging 0.96
R3416:Spata1 UTSW 3 146487508 splice site probably benign
R3911:Spata1 UTSW 3 146475324 missense probably damaging 0.99
R4856:Spata1 UTSW 3 146469774 missense probably damaging 0.99
R4859:Spata1 UTSW 3 146469774 missense probably damaging 0.99
R4886:Spata1 UTSW 3 146469774 missense probably damaging 0.99
R6902:Spata1 UTSW 3 146475323 missense possibly damaging 0.77
R7459:Spata1 UTSW 3 146476222 missense possibly damaging 0.86
R7532:Spata1 UTSW 3 146468191 missense possibly damaging 0.86
R7997:Spata1 UTSW 3 146476280 missense not run
Nature of Mutation

DNA sequencing using the SOLiD technique identified a T to A transversion at position 699 of the Spata1 transcript in exon 6 of 15 total exons. Three transcripts of the Spata1 gene are displayed on Ensembl and Vega. The mutated nucleotide introduces a premature stop codon at leucine 155 of the encoded protein. The mutation has been confirmed by DNA sequencing using the Sanger method (Figure 1).

Protein Function and Prediction

The Spata1 gene encodes a 444 amino acid protein that may have a role in spermatogenesis. Two isoforms are produced by alternative splicing. Isoform 2 contains an alternative C-terminus and truncates at amino acid 114 (Uniprot Q9D5R4).

The premature stop introduced by the Frazz mutation in the Spata1 gene truncates 290 amino acids from the C-terminus of the protein. This allele is likely null.
Posted On2010-11-11