Incidental Mutation 'IGL01336:Stra8'
ID74631
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Stra8
Ensembl Gene ENSMUSG00000029848
Gene Namestimulated by retinoic acid gene 8
Synonyms
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.346) question?
Stock #IGL01336
Quality Score
Status
Chromosome6
Chromosomal Location34920163-34939344 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 34933188 bp
ZygosityHeterozygous
Amino Acid Change Tyrosine to Histidine at position 182 (Y182H)
Ref Sequence ENSEMBL: ENSMUSP00000110651 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031876] [ENSMUST00000114997] [ENSMUST00000114999] [ENSMUST00000185102]
Predicted Effect possibly damaging
Transcript: ENSMUST00000031876
AA Change: Y182H

PolyPhen 2 Score 0.749 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000031876
Gene: ENSMUSG00000029848
AA Change: Y182H

DomainStartEndE-ValueType
Blast:HLH 34 83 5e-20 BLAST
coiled coil region 159 201 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000114997
AA Change: Y71H

PolyPhen 2 Score 0.593 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000110649
Gene: ENSMUSG00000029848
AA Change: Y71H

DomainStartEndE-ValueType
coiled coil region 48 90 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000114999
AA Change: Y182H

PolyPhen 2 Score 0.749 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000110651
Gene: ENSMUSG00000029848
AA Change: Y182H

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: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acly G T 11: 100,495,910 L599I probably benign Het
Adcyap1 A G 17: 93,203,964 D122G probably benign Het
Ahr A G 12: 35,503,840 V760A probably benign Het
Ankrd7 T C 6: 18,868,278 V133A probably benign Het
Bsn A G 9: 108,111,785 V2256A probably damaging Het
Cblb A G 16: 52,186,229 K765E probably benign Het
Clmp A G 9: 40,782,610 *374W probably null Het
Ddc A G 11: 11,846,630 probably null Het
Dnah10 A G 5: 124,775,512 Y1878C probably damaging Het
Ei24 A G 9: 36,786,481 probably null Het
Gm12394 T A 4: 42,793,784 Q116L possibly damaging Het
Gm8394 T C 10: 85,314,164 noncoding transcript Het
Ikbke A G 1: 131,273,756 M118T probably damaging Het
Il6st T C 13: 112,480,239 S107P possibly damaging Het
Map2k6 A G 11: 110,496,411 Y203C probably damaging Het
Mettl27 C T 5: 134,935,880 probably benign Het
Mrps14 G A 1: 160,196,995 W32* probably null Het
Naaa A C 5: 92,265,133 M208R probably benign Het
Nat2 A G 8: 67,501,541 Y101C probably damaging Het
Ncoa3 A G 2: 166,054,523 S449G probably benign Het
Olfr1507 A G 14: 52,490,748 I72T probably damaging Het
Olfr5 T C 7: 6,480,998 I53V probably benign Het
Phykpl G A 11: 51,599,456 probably benign Het
Rasgrf1 A T 9: 89,991,530 M631L probably benign Het
Rgma G A 7: 73,409,318 V57M possibly damaging Het
Samd4b G T 7: 28,413,963 D192E probably benign Het
Sesn2 T C 4: 132,499,367 T139A probably benign Het
Slc30a6 A G 17: 74,408,839 probably benign Het
Trim31 C A 17: 36,909,377 A395E probably damaging Het
Trp53bp2 G T 1: 182,431,583 R67L probably damaging Het
Trpa1 A C 1: 14,886,880 probably benign Het
Wdr91 G A 6: 34,909,543 probably benign Het
Other mutations in Stra8
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00862:Stra8 APN 6 34938063 missense probably benign 0.09
IGL02110:Stra8 APN 6 34930354 splice site probably benign
IGL02572:Stra8 APN 6 34939159 missense probably damaging 1.00
rounded UTSW 6 34933040 nonsense probably null
R1740:Stra8 UTSW 6 34927719 splice site probably benign
R4928:Stra8 UTSW 6 34933156 missense probably benign 0.03
R5412:Stra8 UTSW 6 34930950 start codon destroyed probably null 0.46
R5709:Stra8 UTSW 6 34927762 missense possibly damaging 0.73
R6558:Stra8 UTSW 6 34933040 nonsense probably null
R7081:Stra8 UTSW 6 34934367 critical splice donor site probably null
R7673:Stra8 UTSW 6 34927918 critical splice donor site probably null
R7845:Stra8 UTSW 6 34930964 missense probably benign 0.23
R7946:Stra8 UTSW 6 34930881 critical splice acceptor site probably null
Posted On2013-10-07