Incidental Mutation 'R6212:Stra6l'
ID 503488
Institutional Source Beutler Lab
Gene Symbol Stra6l
Ensembl Gene ENSMUSG00000028327
Gene Name STRA6-like
Synonyms 1300002K09Rik, Rbpr2
MMRRC Submission 044345-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6212 (G1)
Quality Score 225.009
Status Validated
Chromosome 4
Chromosomal Location 45848664-45887008 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 45884664 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Histidine at position 565 (Y565H)
Ref Sequence ENSEMBL: ENSMUSP00000103412 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030011] [ENSMUST00000107782] [ENSMUST00000107783]
AlphaFold Q9DBN1
Predicted Effect probably benign
Transcript: ENSMUST00000030011
AA Change: Y565H

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000030011
Gene: ENSMUSG00000028327
AA Change: Y565H

DomainStartEndE-ValueType
Pfam:RBP_receptor 13 602 8.7e-228 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000107782
AA Change: Y474H

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000103411
Gene: ENSMUSG00000028327
AA Change: Y474H

DomainStartEndE-ValueType
Pfam:RBP_receptor 1 512 2.8e-221 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000107783
AA Change: Y565H

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000103412
Gene: ENSMUSG00000028327
AA Change: Y565H

DomainStartEndE-ValueType
Pfam:RBP_receptor 12 603 1e-254 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000165478
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.1%
  • 20x: 97.2%
Validation Efficiency 96% (52/54)
Allele List at MGI
Other mutations in this stock
Total: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acsm2 T A 7: 119,172,505 (GRCm39) I116N probably damaging Het
Ap3b1 T C 13: 94,587,581 (GRCm39) S452P probably damaging Het
Ap3b1 C A 13: 94,630,207 (GRCm39) H821N unknown Het
Apex1 C T 14: 51,164,350 (GRCm39) P264S probably benign Het
Arhgap27 T C 11: 103,251,698 (GRCm39) Y10C probably damaging Het
Bag6 A G 17: 35,359,278 (GRCm39) T208A probably benign Het
Brd4 G T 17: 32,421,423 (GRCm39) P771Q probably damaging Het
Capn3 A G 2: 120,307,667 (GRCm39) S69G probably benign Het
Ccdc13 A G 9: 121,627,975 (GRCm39) probably benign Het
Celsr1 T C 15: 85,800,888 (GRCm39) H2519R probably benign Het
Chd8 T A 14: 52,439,155 (GRCm39) N48I probably damaging Het
Cmip T C 8: 118,103,895 (GRCm39) Y128H probably damaging Het
Dnhd1 C T 7: 105,353,255 (GRCm39) P2803S probably damaging Het
Dusp26 G A 8: 31,584,252 (GRCm39) D120N probably damaging Het
Epha6 T C 16: 60,245,719 (GRCm39) H160R possibly damaging Het
Erg C T 16: 95,180,022 (GRCm39) V215I probably damaging Het
Fbxo6 A T 4: 148,233,979 (GRCm39) I39N probably damaging Het
Gabbr2 T C 4: 46,681,189 (GRCm39) D124G probably damaging Het
Gapdh T C 6: 125,139,661 (GRCm39) H203R probably damaging Het
Garin1b T C 6: 29,319,373 (GRCm39) L59P probably damaging Het
Ggnbp2 T C 11: 84,727,503 (GRCm39) M42V possibly damaging Het
Hk2 C A 6: 82,705,823 (GRCm39) A827S probably benign Het
Hoxa5 T C 6: 52,179,694 (GRCm39) E227G probably damaging Het
Itgax C A 7: 127,729,504 (GRCm39) H31N possibly damaging Het
Itgax A G 7: 127,747,025 (GRCm39) D942G probably benign Het
Kars1 A T 8: 112,726,829 (GRCm39) probably null Het
Lama3 T C 18: 12,646,702 (GRCm39) F1739L probably damaging Het
Map2k1 A T 9: 64,112,445 (GRCm39) L155Q probably damaging Het
Mcf2l A T 8: 13,067,431 (GRCm39) D1013V probably damaging Het
Mocs1 G A 17: 49,742,224 (GRCm39) G118S probably damaging Het
Ncam2 T C 16: 81,229,650 (GRCm39) S37P probably damaging Het
Nfxl1 A G 5: 72,673,553 (GRCm39) probably null Het
Nodal C T 10: 61,259,300 (GRCm39) H246Y possibly damaging Het
Nwd1 G A 8: 73,421,950 (GRCm39) V999M possibly damaging Het
Oaz3 T A 3: 94,342,375 (GRCm39) T139S probably benign Het
Or6z6 T C 7: 6,491,367 (GRCm39) probably null Het
Or7e165 A G 9: 19,694,585 (GRCm39) D52G probably damaging Het
P3h3 T A 6: 124,822,606 (GRCm39) T522S probably benign Het
Pgap1 A G 1: 54,554,052 (GRCm39) F457S probably damaging Het
Prkce T C 17: 86,866,729 (GRCm39) Y530H probably damaging Het
Ptpn3 A T 4: 57,270,070 (GRCm39) C31S probably damaging Het
Rsf1 G GACGGCGGCA 7: 97,229,116 (GRCm39) probably benign Het
Serpinb6e T A 13: 34,025,220 (GRCm39) N24Y probably damaging Het
Slc4a8 T C 15: 100,709,452 (GRCm39) V937A possibly damaging Het
Smgc T A 15: 91,734,830 (GRCm39) probably benign Het
Srcap T A 7: 127,148,861 (GRCm39) N2027K probably damaging Het
Tmem262 A G 19: 6,130,668 (GRCm39) E62G possibly damaging Het
Tnrc6a T A 7: 122,742,965 (GRCm39) probably null Het
Txlnb T C 10: 17,675,057 (GRCm39) I70T probably damaging Het
Whrn A T 4: 63,412,923 (GRCm39) L25* probably null Het
Zfp326 T A 5: 106,058,097 (GRCm39) V412E probably damaging Het
Zfp831 A G 2: 174,487,661 (GRCm39) R779G possibly damaging Het
Other mutations in Stra6l
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01448:Stra6l APN 4 45,864,864 (GRCm39) splice site probably null
IGL02343:Stra6l APN 4 45,869,588 (GRCm39) missense probably damaging 0.99
IGL02710:Stra6l APN 4 45,882,728 (GRCm39) missense possibly damaging 0.72
IGL02880:Stra6l APN 4 45,885,278 (GRCm39) missense possibly damaging 0.70
IGL03034:Stra6l APN 4 45,885,392 (GRCm39) missense probably benign 0.41
IGL03163:Stra6l APN 4 45,881,455 (GRCm39) missense probably benign 0.03
IGL03355:Stra6l APN 4 45,873,689 (GRCm39) missense probably benign 0.16
K2124:Stra6l UTSW 4 45,870,770 (GRCm39) splice site probably benign
R0800:Stra6l UTSW 4 45,882,797 (GRCm39) missense probably benign 0.29
R1171:Stra6l UTSW 4 45,864,982 (GRCm39) missense probably benign
R1931:Stra6l UTSW 4 45,882,698 (GRCm39) nonsense probably null
R1982:Stra6l UTSW 4 45,867,237 (GRCm39) nonsense probably null
R2331:Stra6l UTSW 4 45,858,224 (GRCm39) critical splice donor site probably null
R4691:Stra6l UTSW 4 45,882,851 (GRCm39) missense probably benign 0.39
R4846:Stra6l UTSW 4 45,873,682 (GRCm39) missense possibly damaging 0.76
R5175:Stra6l UTSW 4 45,870,860 (GRCm39) missense probably benign 0.01
R5633:Stra6l UTSW 4 45,881,455 (GRCm39) missense probably benign 0.00
R6517:Stra6l UTSW 4 45,879,473 (GRCm39) missense probably benign
R6534:Stra6l UTSW 4 45,860,041 (GRCm39) splice site probably null
R6584:Stra6l UTSW 4 45,869,635 (GRCm39) splice site probably null
R7763:Stra6l UTSW 4 45,869,570 (GRCm39) nonsense probably null
R8400:Stra6l UTSW 4 45,864,905 (GRCm39) missense probably damaging 1.00
R8511:Stra6l UTSW 4 45,885,347 (GRCm39) missense probably benign 0.00
R9007:Stra6l UTSW 4 45,864,910 (GRCm39) missense possibly damaging 0.81
R9313:Stra6l UTSW 4 45,881,454 (GRCm39) missense probably benign
R9379:Stra6l UTSW 4 45,849,093 (GRCm39) missense probably benign
R9400:Stra6l UTSW 4 45,885,293 (GRCm39) missense probably damaging 1.00
R9764:Stra6l UTSW 4 45,884,602 (GRCm39) missense probably damaging 0.98
Predicted Primers PCR Primer
(F):5'- AGTACTAATTGGGCGGTAATGG -3'
(R):5'- GTAGGTAAGCCAGTCTGCAG -3'

Sequencing Primer
(F):5'- GTAATGGGAGGTGCAGCC -3'
(R):5'- CCACGCAGCTTGAATGATG -3'
Posted On 2018-02-27