Incidental Mutation 'R9512:Stra8'
ID 718232
Institutional Source Beutler Lab
Gene Symbol Stra8
Ensembl Gene ENSMUSG00000029848
Gene Name stimulated by retinoic acid gene 8
Synonyms
MMRRC Submission
Accession Numbers
Essential gene? Probably non essential (E-score: 0.199) question?
Stock # R9512 (G1)
Quality Score 225.009
Status Not validated
Chromosome 6
Chromosomal Location 34897098-34916279 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 34909988 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Threonine at position 137 (A137T)
Ref Sequence ENSEMBL: ENSMUSP00000031876 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031876] [ENSMUST00000114997] [ENSMUST00000114999] [ENSMUST00000185102]
AlphaFold P70278
Predicted Effect probably benign
Transcript: ENSMUST00000031876
AA Change: A137T

PolyPhen 2 Score 0.027 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000031876
Gene: ENSMUSG00000029848
AA Change: A137T

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: A26T

PolyPhen 2 Score 0.027 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000110649
Gene: ENSMUSG00000029848
AA Change: A26T

DomainStartEndE-ValueType
coiled coil region 48 90 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000114999
AA Change: A137T

PolyPhen 2 Score 0.027 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000110651
Gene: ENSMUSG00000029848
AA Change: A137T

DomainStartEndE-ValueType
Blast:HLH 34 83 5e-20 BLAST
coiled coil region 159 201 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000185102
AA Change: A116T

PolyPhen 2 Score 0.869 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000139136
Gene: ENSMUSG00000029848
AA Change: A116T

DomainStartEndE-ValueType
low complexity region 122 146 N/A INTRINSIC
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.0%
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: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca16 C T 7: 120,022,963 (GRCm39) A33V probably benign Het
Abcb9 T C 5: 124,228,176 (GRCm39) T22A possibly damaging Het
Alkbh8 G T 9: 3,367,959 (GRCm39) R325M probably damaging Het
Ap1g1 T C 8: 110,529,687 (GRCm39) S36P probably damaging Het
Arid1b A G 17: 5,391,864 (GRCm39) D1745G probably benign Het
Bnipl A G 3: 95,150,369 (GRCm39) V292A probably benign Het
Brca2 C T 5: 150,454,546 (GRCm39) A103V probably benign Het
Capn3 G A 2: 120,326,535 (GRCm39) E576K probably damaging Het
Eif2ak4 G A 2: 118,293,196 (GRCm39) G1372S probably damaging Het
Ephb6 G A 6: 41,593,030 (GRCm39) E423K possibly damaging Het
Esrp1 A G 4: 11,365,449 (GRCm39) V213A probably benign Het
Fndc3a T C 14: 72,827,424 (GRCm39) E87G probably damaging Het
Foxn1 G T 11: 78,262,035 (GRCm39) S111R Het
Fyb2 G A 4: 104,853,100 (GRCm39) R564Q probably benign Het
Henmt1 A G 3: 108,867,445 (GRCm39) I327V probably benign Het
Hsdl2 A T 4: 59,594,464 (GRCm39) R117* probably null Het
Kif18a A G 2: 109,171,517 (GRCm39) T865A probably benign Het
Lrrcc1 T C 3: 14,613,301 (GRCm39) L463P possibly damaging Het
Ltbp2 G A 12: 84,837,864 (GRCm39) P1192L probably benign Het
Meiosin T A 7: 18,838,860 (GRCm39) T156S unknown Het
Mroh4 C A 15: 74,485,095 (GRCm39) R539L probably benign Het
Nln A T 13: 104,198,274 (GRCm39) H179Q possibly damaging Het
Nrg2 A G 18: 36,179,010 (GRCm39) F309L probably benign Het
Ntng2 T C 2: 29,117,969 (GRCm39) T160A possibly damaging Het
Or1j10 T C 2: 36,267,325 (GRCm39) L179P possibly damaging Het
Or2n1d A T 17: 38,646,320 (GRCm39) T91S possibly damaging Het
Or4x12-ps1 A G 2: 89,916,721 (GRCm39) L28P possibly damaging Het
Or9s14 T C 1: 92,535,990 (GRCm39) C144R probably benign Het
Orc6 T A 8: 86,029,522 (GRCm39) I98N Het
Pcdha8 A C 18: 37,126,624 (GRCm39) I369L possibly damaging Het
Plk2 C T 13: 110,536,673 (GRCm39) T655M probably damaging Het
Pou1f1 A G 16: 65,320,502 (GRCm39) T66A probably benign Het
Ppp1r9a A T 6: 5,113,681 (GRCm39) E728D probably benign Het
Ppp1r9a T C 6: 5,115,364 (GRCm39) V829A probably damaging Het
Psd T C 19: 46,306,154 (GRCm39) K46R possibly damaging Het
Slc25a51 T C 4: 45,399,360 (GRCm39) I277V probably benign Het
Slc9a2 T G 1: 40,721,258 (GRCm39) D75E probably damaging Het
Slitrk5 A G 14: 111,917,252 (GRCm39) Y292C probably damaging Het
Snap91 T G 9: 86,665,392 (GRCm39) T667P unknown Het
Spata16 G C 3: 26,722,093 (GRCm39) E205Q possibly damaging Het
Stard6 G A 18: 70,633,601 (GRCm39) V203I probably benign Het
Toporsl A G 4: 52,610,382 (GRCm39) T92A probably benign Het
Ush2a A G 1: 188,643,160 (GRCm39) N4174S probably damaging Het
Vmn1r232 A C 17: 21,134,416 (GRCm39) S61R probably damaging Het
Zfp263 T C 16: 3,564,306 (GRCm39) S199P probably damaging Het
Zfp616 G A 11: 73,975,936 (GRCm39) C735Y probably damaging 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
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
Predicted Primers PCR Primer
(F):5'- TCAAGTTACACCATGTGAAGACG -3'
(R):5'- ATTCCATGAGGTCCGGCAAC -3'

Sequencing Primer
(F):5'- GTCAGAGCCACTTGGTTATTATC -3'
(R):5'- GGTCCGGCAACAGAGTG -3'
Posted On 2022-07-18