Incidental Mutation 'R9484:Stra8'
ID 716437
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: 0.247) question?
Stock # R9484 (G1)
Quality Score 225.009
Status Not validated
Chromosome 6
Chromosomal Location 34920163-34939344 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to A at 34934186 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Tryptophan to Arginine at position 250 (W250R)
Ref Sequence ENSEMBL: ENSMUSP00000031876 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031876] [ENSMUST00000114997] [ENSMUST00000114999] [ENSMUST00000185102]
AlphaFold P70278
Predicted Effect probably damaging
Transcript: ENSMUST00000031876
AA Change: W250R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000031876
Gene: ENSMUSG00000029848
AA Change: W250R

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: W139R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000110649
Gene: ENSMUSG00000029848
AA Change: W139R

DomainStartEndE-ValueType
coiled coil region 48 90 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000114999
AA Change: W250R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000110651
Gene: ENSMUSG00000029848
AA Change: W250R

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
  • 1x: 99.9%
  • 3x: 99.8%
  • 10x: 99.2%
  • 20x: 97.1%
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: 83 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acads A T 5: 115,112,786 C151S probably damaging Het
Actr8 T C 14: 29,986,344 I193T probably benign Het
Btbd2 T C 10: 80,644,269 N419S probably benign Het
Cacna2d1 T A 5: 16,356,833 W821R probably damaging Het
Cadps2 T C 6: 23,626,647 Y214C probably benign Het
Calu T A 6: 29,366,163 L180Q probably damaging Het
Corin C T 5: 72,339,937 V615I probably damaging Het
Cyp8b1 A T 9: 121,915,917 D116E probably benign Het
D630036H23Rik C A 12: 36,381,712 A96S unknown Het
Ddx24 A T 12: 103,411,296 Y717N probably damaging Het
Dmap1 G T 4: 117,676,111 Q249K probably benign Het
Dnah10 T A 5: 124,823,444 W3922R probably damaging Het
Dnah14 T C 1: 181,690,208 F2036L probably benign Het
Dnah14 T C 1: 181,797,746 I4064T probably benign Het
Dock9 A C 14: 121,581,432 V1546G probably damaging Het
Eif3a A T 19: 60,766,568 S1059T unknown Het
Ep300 A G 15: 81,636,825 E1262G unknown Het
Evl T A 12: 108,686,457 I387N probably damaging Het
Fat2 A C 11: 55,309,926 V774G probably damaging Het
Fez1 T A 9: 36,843,797 Y31N probably benign Het
Fkbp10 A G 11: 100,423,134 I435V probably damaging Het
Flnb A G 14: 7,929,004 D1911G probably benign Het
Fnbp1 T C 2: 31,083,026 Y154C probably benign Het
Fndc10 T C 4: 155,695,039 I180T possibly damaging Het
Frmd4a G A 2: 4,604,215 V965I possibly damaging Het
Gabrr2 A G 4: 33,071,352 H64R possibly damaging Het
Glis3 T C 19: 28,531,003 D527G probably damaging Het
Gm2022 A T 12: 87,895,479 Q37L possibly damaging Het
H2-Ob T A 17: 34,241,015 F33L probably damaging Het
Hbb-bh1 C T 7: 103,843,032 E27K probably benign Het
Ifnb1 T A 4: 88,522,678 T33S probably benign Het
Igkv4-80 T A 6: 69,016,782 T42S probably damaging Het
Irs2 C T 8: 11,007,334 G366D probably damaging Het
Kcnk2 CAAA CAA 1: 189,256,694 probably null Het
Krtap5-3 T A 7: 142,202,331 C302S unknown Het
Lgi1 A G 19: 38,306,309 K510E probably benign Het
Lgi2 T A 5: 52,538,594 D341V probably benign Het
Lin7c T C 2: 109,894,468 I14T probably benign Het
Lrrc19 A T 4: 94,643,336 M13K probably benign Het
Lrrc69 T C 4: 14,666,012 I315M probably benign Het
Myo5c A T 9: 75,297,488 D1541V probably damaging Het
Mypn T G 10: 63,167,240 M373L probably benign Het
Nckipsd C A 9: 108,812,638 H333N probably damaging Het
Nrg2 A T 18: 36,024,348 L428Q probably null Het
Olfr1367 C A 13: 21,347,417 T163K probably damaging Het
Olfr235 T C 19: 12,268,371 I47T possibly damaging Het
Olfr53 T C 7: 140,651,991 L4S probably benign Het
Otogl T A 10: 107,822,033 probably null Het
Otogl C T 10: 107,901,295 G86D probably damaging Het
Papln A T 12: 83,791,844 Q1249L probably benign Het
Plxna2 G T 1: 194,644,894 G379C probably damaging Het
Pofut2 T C 10: 77,259,426 I35T probably benign Het
Pros1 A G 16: 62,924,524 T501A possibly damaging Het
Rapgef1 T C 2: 29,735,809 S1042P possibly damaging Het
Rps6kb1 C T 11: 86,517,617 E185K probably damaging Het
Slc13a2 A T 11: 78,403,407 L216Q probably damaging Het
Slc22a14 T C 9: 119,180,549 Y160C probably damaging Het
Slc22a4 T A 11: 53,988,947 I429F possibly damaging Het
Slc26a3 A G 12: 31,461,786 K457E probably damaging Het
Slc47a2 T C 11: 61,336,234 I169M possibly damaging Het
Slco1a1 C T 6: 141,908,946 V660I probably benign Het
Smyd1 A G 6: 71,225,466 Y252H probably damaging Het
Soga3 G A 10: 29,196,973 D754N probably damaging Het
Spp2 A T 1: 88,406,973 probably benign Het
Syne1 A C 10: 5,220,359 L5183R probably damaging Het
Tdrd9 T C 12: 112,046,250 S1203P probably damaging Het
Th C A 7: 142,899,883 E27* probably null Het
Thada C A 17: 84,429,191 L887F probably damaging Het
Timm23 T C 14: 32,180,629 T186A probably benign Het
Tmem132b A T 5: 125,783,356 E555V probably damaging Het
Tnik A T 3: 28,594,944 Q457L unknown Het
Uba7 C A 9: 107,983,838 H942Q probably benign Het
Upf2 T C 2: 5,961,267 S233P unknown Het
Urm1 T A 2: 29,842,748 N72K probably damaging Het
Usp10 T C 8: 119,948,765 S508P possibly damaging Het
Usp37 G A 1: 74,459,922 P632S probably damaging Het
Wdr77 T A 3: 105,965,088 N209K probably benign Het
Zbtb24 C T 10: 41,451,433 T105M probably benign Het
Zfp341 T A 2: 154,643,843 I671N probably damaging Het
Zfp414 A G 17: 33,630,010 T73A probably benign Het
Zfp574 A T 7: 25,081,979 I809F possibly damaging Het
Zfp62 T C 11: 49,217,281 I733T probably damaging Het
Zfp719 A G 7: 43,590,157 I390V possibly damaging Het
Other mutations in Stra8
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00862:Stra8 APN 6 34938063 missense probably benign 0.09
IGL01336:Stra8 APN 6 34933188 missense possibly damaging 0.75
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
R8773:Stra8 UTSW 6 34935646 missense probably damaging 0.98
R8933:Stra8 UTSW 6 34927689 intron probably benign
R9149:Stra8 UTSW 6 34934081 missense probably damaging 1.00
R9512:Stra8 UTSW 6 34933053 missense probably benign 0.03
Predicted Primers PCR Primer
(F):5'- GAGCTGTGGTCTGATCTTAAGC -3'
(R):5'- TCTCACAGGGTCTGCTCAAG -3'

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