Incidental Mutation 'IGL02572:Stra8'
ID 299051
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: 0.199) question?
Stock # IGL02572
Quality Score
Status
Chromosome 6
Chromosomal Location 34897098-34916279 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 34916094 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Asparagine at position 280 (D280N)
Ref Sequence ENSEMBL: ENSMUSP00000110649 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031876] [ENSMUST00000114997] [ENSMUST00000114999]
AlphaFold P70278
Predicted Effect probably damaging
Transcript: ENSMUST00000031876
AA Change: D391N

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000031876
Gene: ENSMUSG00000029848
AA Change: D391N

DomainStartEndE-ValueType
Blast:HLH 34 83 5e-20 BLAST
coiled coil region 159 201 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000114997
AA Change: D280N

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000110649
Gene: ENSMUSG00000029848
AA Change: D280N

DomainStartEndE-ValueType
coiled coil region 48 90 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000114999
AA Change: D391N

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000110651
Gene: ENSMUSG00000029848
AA Change: D391N

DomainStartEndE-ValueType
Blast:HLH 34 83 5e-20 BLAST
coiled coil region 159 201 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: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A630001G21Rik T C 1: 85,652,892 (GRCm39) N92S probably damaging Het
Abca2 T C 2: 25,323,329 (GRCm39) L99P possibly damaging Het
Adam19 T A 11: 46,022,548 (GRCm39) Y500* probably null Het
Amy1 A T 3: 113,358,722 (GRCm39) probably benign Het
Aox3 T C 1: 58,197,526 (GRCm39) I624T probably damaging Het
Atad3a C T 4: 155,838,041 (GRCm39) D244N possibly damaging Het
Atp5mf C A 5: 145,124,047 (GRCm39) probably benign Het
Bbof1 G A 12: 84,475,139 (GRCm39) D443N probably damaging Het
Bod1l G A 5: 41,978,573 (GRCm39) Q914* probably null Het
C330011M18Rik A G 8: 84,793,208 (GRCm39) probably benign Het
Cgref1 A G 5: 31,090,911 (GRCm39) V301A probably benign Het
Coa6 T C 8: 127,149,480 (GRCm39) Y19H probably damaging Het
Cop1 T A 1: 159,136,448 (GRCm39) probably benign Het
Dmrta1 T C 4: 89,579,795 (GRCm39) S252P probably benign Het
Dnaaf5 T G 5: 139,170,384 (GRCm39) S484A probably benign Het
Dspp A T 5: 104,324,935 (GRCm39) S433C probably damaging Het
Efcab5 G A 11: 77,028,714 (GRCm39) R206* probably null Het
Epop A T 11: 97,519,027 (GRCm39) S361T probably benign Het
Fat3 T A 9: 15,871,802 (GRCm39) T3530S probably benign Het
Flvcr1 A G 1: 190,757,843 (GRCm39) Y108H probably damaging Het
Fsip2 T G 2: 82,822,347 (GRCm39) S6027A probably benign Het
Galnt14 A G 17: 73,842,262 (GRCm39) L209P probably damaging Het
Hif3a C A 7: 16,784,513 (GRCm39) R25L probably null Het
Hsf5 A G 11: 87,522,521 (GRCm39) probably benign Het
Il22ra2 A T 10: 19,502,492 (GRCm39) T104S probably benign Het
Klrk1 A G 6: 129,592,316 (GRCm39) S138P probably damaging Het
Lrp5 G T 19: 3,664,283 (GRCm39) Q815K probably benign Het
Morn4 A G 19: 42,064,886 (GRCm39) probably benign Het
Nlrp14 T A 7: 106,781,929 (GRCm39) Y375* probably null Het
Nsd1 T A 13: 55,443,943 (GRCm39) M1714K probably damaging Het
Or2aj6 T A 16: 19,443,848 (GRCm39) M1L probably benign Het
Or5aq7 G A 2: 86,938,710 (GRCm39) T7I possibly damaging Het
Or6c213 T A 10: 129,574,735 (GRCm39) D17V possibly damaging Het
Pappa2 C T 1: 158,678,786 (GRCm39) A877T probably benign Het
Pcsk2 G A 2: 143,532,262 (GRCm39) A137T probably damaging Het
Piezo1 A G 8: 123,212,044 (GRCm39) V2054A probably benign Het
Rad52 A G 6: 119,892,188 (GRCm39) probably benign Het
Rnf123 G A 9: 107,945,501 (GRCm39) R390* probably null Het
Rusf1 A T 7: 127,889,752 (GRCm39) probably benign Het
Sbno1 A G 5: 124,519,740 (GRCm39) probably benign Het
Scrn1 C T 6: 54,489,186 (GRCm39) D312N probably benign Het
Sin3b A G 8: 73,471,109 (GRCm39) Q352R probably benign Het
Slc25a28 A G 19: 43,652,885 (GRCm39) Y259H probably damaging Het
Sppl2a T C 2: 126,768,216 (GRCm39) M151V probably benign Het
Srrm1 G A 4: 135,052,415 (GRCm39) P658L unknown Het
Thbs2 A T 17: 14,897,275 (GRCm39) D744E possibly damaging Het
Tiparp A G 3: 65,439,310 (GRCm39) T27A probably benign Het
Tmem38a T C 8: 73,333,818 (GRCm39) F99S probably damaging Het
Tmod3 T C 9: 75,416,667 (GRCm39) T222A probably benign Het
Tnn A G 1: 159,913,677 (GRCm39) I1272T probably damaging Het
Tnpo1 A T 13: 98,985,667 (GRCm39) I829N probably damaging Het
Trpm5 A T 7: 142,641,613 (GRCm39) probably benign Het
Ttn A G 2: 76,598,215 (GRCm39) V19566A probably damaging Het
V1ra8 A G 6: 90,180,040 (GRCm39) D81G probably damaging Het
Zdhhc20 A G 14: 58,127,564 (GRCm39) V25A probably benign Het
Other mutations in Stra8
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00862:Stra8 APN 6 34,914,998 (GRCm39) missense probably benign 0.09
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
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 2015-04-16