Incidental Mutation 'IGL00862:Stra8'
ID 14280
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Stra8
Ensembl Gene ENSMUSG00000029848
Gene Name stimulated by retinoic acid gene 8
Synonyms
Accession Numbers
Essential gene? Probably non essential (E-score: 0.221) question?
Stock # IGL00862
Quality Score
Status
Chromosome 6
Chromosomal Location 34897098-34916279 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 34914998 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Lysine at position 233 (N233K)
Ref Sequence ENSEMBL: ENSMUSP00000110649 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031876] [ENSMUST00000114997] [ENSMUST00000114999] [ENSMUST00000185102]
AlphaFold P70278
Predicted Effect probably benign
Transcript: ENSMUST00000031876
AA Change: N344K

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
SMART Domains Protein: ENSMUSP00000031876
Gene: ENSMUSG00000029848
AA Change: N344K

DomainStartEndE-ValueType
Blast:HLH 34 83 5e-20 BLAST
coiled coil region 159 201 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000114997
AA Change: N233K

PolyPhen 2 Score 0.085 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000110649
Gene: ENSMUSG00000029848
AA Change: N233K

DomainStartEndE-ValueType
coiled coil region 48 90 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000114999
AA Change: N344K

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
SMART Domains Protein: ENSMUSP00000110651
Gene: ENSMUSG00000029848
AA Change: N344K

DomainStartEndE-ValueType
Blast:HLH 34 83 5e-20 BLAST
coiled coil region 159 201 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000185102
SMART Domains Protein: ENSMUSP00000139136
Gene: ENSMUSG00000029848

DomainStartEndE-ValueType
low complexity region 122 146 N/A INTRINSIC
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 retinoic acid-responsive protein. A homologous protein in mouse has been shown to be involved in the regulation of meiotic initiation in both spermatogenesis and oogenesis, though feature differences between the mouse and human proteins suggest that these homologs are not entirely functionally equivalent. It is thought that this gene may play a role in spermatogenesis in humans. [provided by RefSeq, Nov 2010]
PHENOTYPE: Homozygous null mice display impaired meiosis. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 14 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca8b T C 11: 109,844,374 (GRCm39) T886A possibly damaging Het
Clca3a1 T A 3: 144,730,332 (GRCm39) N171I possibly damaging Het
Eef1b2 G A 1: 63,217,665 (GRCm39) G91R probably damaging Het
Ei24 C T 9: 36,695,774 (GRCm39) W239* probably null Het
Fut10 G T 8: 31,725,733 (GRCm39) V163F probably damaging Het
Msh4 T A 3: 153,589,372 (GRCm39) D431V possibly damaging Het
Nt5el T A 13: 105,255,192 (GRCm39) F424L probably damaging Het
Ntrk3 A T 7: 77,896,925 (GRCm39) V704D probably damaging Het
Prune2 A C 19: 17,096,713 (GRCm39) H739P probably benign Het
Trpm6 A G 19: 18,804,892 (GRCm39) Y948C probably damaging Het
Xirp2 A G 2: 67,347,247 (GRCm39) I3163V probably benign Het
Zfat C T 15: 68,130,512 (GRCm39) probably null Het
Zfp53 T A 17: 21,729,360 (GRCm39) H464Q probably benign Het
Zfp760 C A 17: 21,941,265 (GRCm39) Q147K probably benign Het
Other mutations in Stra8
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01336:Stra8 APN 6 34,910,123 (GRCm39) missense possibly damaging 0.75
IGL02110:Stra8 APN 6 34,907,289 (GRCm39) splice site probably benign
IGL02572:Stra8 APN 6 34,916,094 (GRCm39) missense probably damaging 1.00
rounded UTSW 6 34,909,975 (GRCm39) nonsense probably null
R1740:Stra8 UTSW 6 34,904,654 (GRCm39) splice site probably benign
R4928:Stra8 UTSW 6 34,910,091 (GRCm39) missense probably benign 0.03
R5412:Stra8 UTSW 6 34,907,885 (GRCm39) start codon destroyed probably null 0.46
R5709:Stra8 UTSW 6 34,904,697 (GRCm39) missense possibly damaging 0.73
R6558:Stra8 UTSW 6 34,909,975 (GRCm39) nonsense probably null
R7081:Stra8 UTSW 6 34,911,302 (GRCm39) critical splice donor site probably null
R7673:Stra8 UTSW 6 34,904,853 (GRCm39) critical splice donor site probably null
R7845:Stra8 UTSW 6 34,907,899 (GRCm39) missense probably benign 0.23
R7946:Stra8 UTSW 6 34,907,816 (GRCm39) critical splice acceptor site probably null
R8773:Stra8 UTSW 6 34,912,581 (GRCm39) missense probably damaging 0.98
R8933:Stra8 UTSW 6 34,904,624 (GRCm39) intron probably benign
R9149:Stra8 UTSW 6 34,911,016 (GRCm39) missense probably damaging 1.00
R9484:Stra8 UTSW 6 34,911,121 (GRCm39) missense probably damaging 1.00
R9512:Stra8 UTSW 6 34,909,988 (GRCm39) missense probably benign 0.03
Posted On 2012-12-06