Incidental Mutation 'R4079:Hbs1l'
ID 316757
Institutional Source Beutler Lab
Gene Symbol Hbs1l
Ensembl Gene ENSMUSG00000019977
Gene Name Hbs1-like (S. cerevisiae)
Synonyms eRFS, 2810035F15Rik
MMRRC Submission 040976-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4079 (G1)
Quality Score 225
Status Validated
Chromosome 10
Chromosomal Location 21171876-21244788 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 21228501 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 493 (V493A)
Ref Sequence ENSEMBL: ENSMUSP00000151689 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020153] [ENSMUST00000218714] [ENSMUST00000219915]
AlphaFold Q69ZS7
Predicted Effect probably damaging
Transcript: ENSMUST00000020153
AA Change: V490A

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000020153
Gene: ENSMUSG00000019977
AA Change: V490A

DomainStartEndE-ValueType
Pfam:HBS1_N 33 125 1e-22 PFAM
low complexity region 142 155 N/A INTRINSIC
Pfam:GTP_EFTU 256 521 1.7e-48 PFAM
Pfam:GTP_EFTU_D3 572 681 9.2e-34 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000218714
Predicted Effect noncoding transcript
Transcript: ENSMUST00000218850
Predicted Effect noncoding transcript
Transcript: ENSMUST00000219345
Predicted Effect probably damaging
Transcript: ENSMUST00000219915
AA Change: V493A

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
Meta Mutation Damage Score 0.7648 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.4%
  • 20x: 95.5%
Validation Efficiency 97% (73/75)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the GTP-binding elongation factor family. It is expressed in multiple tissues with the highest expression in heart and skeletal muscle. The intergenic region of this gene and the MYB gene has been identified to be a quantitative trait locus (QTL) controlling fetal hemoglobin level, and this region influnces erythrocyte, platelet, and monocyte counts as well as erythrocyte volume and hemoglobin content. DNA polymorphisms at this region associate with fetal hemoglobin levels and pain crises in sickle cell disease. A single nucleotide polymorphism in exon 1 of this gene is significantly associated with severity in beta-thalassemia/Hemoglobin E. Multiple alternatively spliced transcript variants encoding different protein isoforms have been found for this gene. [provided by RefSeq, May 2009]
Allele List at MGI
Other mutations in this stock
Total: 65 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ago3 C G 4: 126,247,473 (GRCm39) probably null Het
Ankfy1 C A 11: 72,580,835 (GRCm39) probably benign Het
Ap4b1 T A 3: 103,720,694 (GRCm39) N121K probably damaging Het
Arhgef12 T C 9: 42,886,588 (GRCm39) M1131V probably damaging Het
Arl5c A T 11: 97,884,327 (GRCm39) I88N probably damaging Het
Armc9 A T 1: 86,140,851 (GRCm39) probably benign Het
Bnc1 T C 7: 81,623,508 (GRCm39) E573G probably damaging Het
Btaf1 A G 19: 36,963,879 (GRCm39) T817A probably benign Het
C3 C T 17: 57,512,303 (GRCm39) D1542N possibly damaging Het
Cadm3 A G 1: 173,169,236 (GRCm39) V293A probably benign Het
Cadps C T 14: 12,457,702 (GRCm38) A1060T probably benign Het
Cbfa2t3 A G 8: 123,374,434 (GRCm39) probably null Het
Ccdc18 C T 5: 108,306,394 (GRCm39) Q270* probably null Het
Cdc45 A T 16: 18,630,110 (GRCm39) V19D probably damaging Het
Cfap57 C A 4: 118,456,194 (GRCm39) S500I probably benign Het
Cnga3 A T 1: 37,280,946 (GRCm39) Q47L possibly damaging Het
Corin T C 5: 72,661,226 (GRCm39) D89G probably benign Het
Cox16 A T 12: 81,521,109 (GRCm39) probably benign Het
Cyp2a4 A G 7: 26,006,791 (GRCm39) N50S probably benign Het
Diaph1 T A 18: 37,986,636 (GRCm39) E1116D possibly damaging Het
Dlg5 T C 14: 24,198,328 (GRCm39) D1535G possibly damaging Het
Enpp1 A G 10: 24,544,905 (GRCm39) probably null Het
F13b T A 1: 139,429,508 (GRCm39) F9I unknown Het
Fcer1a C T 1: 173,052,920 (GRCm39) C36Y probably damaging Het
Fcho2 A G 13: 98,892,120 (GRCm39) V318A probably damaging Het
Fzd9 A G 5: 135,278,490 (GRCm39) V465A probably benign Het
Hgs T A 11: 120,373,874 (GRCm39) S723T probably benign Het
Hnrnpul1 C T 7: 25,426,300 (GRCm39) R517Q probably damaging Het
Kpna7 A G 5: 144,942,737 (GRCm39) I83T possibly damaging Het
Llgl1 C A 11: 60,601,110 (GRCm39) probably null Het
Lrig3 A C 10: 125,845,656 (GRCm39) E695A probably damaging Het
Lrpap1 A G 5: 35,253,381 (GRCm39) I261T possibly damaging Het
Mfn1 T G 3: 32,596,998 (GRCm39) L152W probably damaging Het
Mog A G 17: 37,323,302 (GRCm39) F212S probably damaging Het
Mpeg1 A G 19: 12,439,634 (GRCm39) N364S probably damaging Het
Mtmr3 C T 11: 4,441,057 (GRCm39) R531Q probably damaging Het
Mx2 A G 16: 97,357,236 (GRCm39) N443S probably damaging Het
Nfatc3 T C 8: 106,806,123 (GRCm39) Y323H probably damaging Het
Nup188 G A 2: 30,199,890 (GRCm39) D305N probably damaging Het
Obscn A G 11: 58,929,189 (GRCm39) V6145A probably benign Het
Or52x1 A T 7: 104,853,228 (GRCm39) H107Q probably damaging Het
Or8u10 A G 2: 85,915,656 (GRCm39) V155A possibly damaging Het
Patl1 C T 19: 11,908,994 (GRCm39) A467V probably damaging Het
Pdss2 A T 10: 43,278,518 (GRCm39) M342L probably benign Het
Phax A G 18: 56,709,051 (GRCm39) N183S possibly damaging Het
Pnck A T X: 72,701,761 (GRCm39) V93E probably damaging Het
Prol1 A G 5: 88,476,075 (GRCm39) N155S unknown Het
Ptprk G A 10: 28,139,508 (GRCm39) V78I probably benign Het
Ptpru A T 4: 131,526,021 (GRCm39) probably null Het
Ptprv A G 1: 135,038,168 (GRCm39) noncoding transcript Het
Ranbp3l A G 15: 9,060,838 (GRCm39) N233S probably damaging Het
Rapgefl1 A G 11: 98,740,803 (GRCm39) T552A probably benign Het
Rasgrp1 A G 2: 117,115,510 (GRCm39) S693P probably benign Het
Scyl2 A T 10: 89,476,458 (GRCm39) M889K probably benign Het
Serpina3a C T 12: 104,085,934 (GRCm39) Q320* probably null Het
Slc12a1 A T 2: 125,042,543 (GRCm39) N733I possibly damaging Het
Snap47 C T 11: 59,319,377 (GRCm39) V254I probably benign Het
Speer4e2 A T 5: 15,027,663 (GRCm39) L71Q probably damaging Het
St6galnac2 A T 11: 116,572,724 (GRCm39) L244Q possibly damaging Het
Syce1 C A 7: 140,359,809 (GRCm39) L83F probably damaging Het
Tjp2 A T 19: 24,086,182 (GRCm39) V780E possibly damaging Het
Tns1 G A 1: 74,034,467 (GRCm39) R192C probably damaging Het
Trav6-3 T C 14: 53,667,537 (GRCm39) L3P possibly damaging Het
Ung G T 5: 114,268,684 (GRCm39) probably null Het
Usp32 T A 11: 84,930,055 (GRCm39) Y574F probably damaging Het
Other mutations in Hbs1l
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01542:Hbs1l APN 10 21,183,655 (GRCm39) missense probably benign 0.03
IGL02948:Hbs1l APN 10 21,217,610 (GRCm39) splice site probably benign
R0375:Hbs1l UTSW 10 21,218,440 (GRCm39) missense possibly damaging 0.76
R0465:Hbs1l UTSW 10 21,227,940 (GRCm39) missense probably null 0.85
R0555:Hbs1l UTSW 10 21,225,222 (GRCm39) missense probably benign 0.14
R0909:Hbs1l UTSW 10 21,183,637 (GRCm39) missense probably benign 0.00
R1172:Hbs1l UTSW 10 21,180,537 (GRCm39) missense probably damaging 1.00
R1594:Hbs1l UTSW 10 21,227,922 (GRCm39) missense probably benign 0.00
R1612:Hbs1l UTSW 10 21,234,734 (GRCm39) missense probably damaging 1.00
R1869:Hbs1l UTSW 10 21,234,305 (GRCm39) splice site probably null
R2109:Hbs1l UTSW 10 21,217,831 (GRCm39) nonsense probably null
R2369:Hbs1l UTSW 10 21,183,644 (GRCm39) missense probably benign 0.01
R2404:Hbs1l UTSW 10 21,171,946 (GRCm39) start gained probably benign
R4077:Hbs1l UTSW 10 21,228,501 (GRCm39) missense probably damaging 1.00
R4534:Hbs1l UTSW 10 21,217,814 (GRCm39) missense possibly damaging 0.74
R4796:Hbs1l UTSW 10 21,218,405 (GRCm39) missense probably damaging 1.00
R4852:Hbs1l UTSW 10 21,234,287 (GRCm39) missense possibly damaging 0.92
R5069:Hbs1l UTSW 10 21,230,546 (GRCm39) missense probably damaging 1.00
R5946:Hbs1l UTSW 10 21,217,655 (GRCm39) missense probably benign
R6232:Hbs1l UTSW 10 21,183,657 (GRCm39) splice site probably null
R6264:Hbs1l UTSW 10 21,243,656 (GRCm39) missense possibly damaging 0.92
R6542:Hbs1l UTSW 10 21,180,516 (GRCm39) missense probably benign 0.11
R6831:Hbs1l UTSW 10 21,217,767 (GRCm39) missense probably benign 0.29
R7295:Hbs1l UTSW 10 21,186,051 (GRCm39) missense probably benign 0.12
R7470:Hbs1l UTSW 10 21,234,683 (GRCm39) missense possibly damaging 0.96
R7652:Hbs1l UTSW 10 21,240,659 (GRCm39) missense probably benign 0.02
R7695:Hbs1l UTSW 10 21,175,116 (GRCm39) missense possibly damaging 0.49
R7909:Hbs1l UTSW 10 21,234,303 (GRCm39) critical splice donor site probably null
R8325:Hbs1l UTSW 10 21,183,548 (GRCm39) missense probably benign 0.02
R8353:Hbs1l UTSW 10 21,185,178 (GRCm39) missense probably benign
R8453:Hbs1l UTSW 10 21,185,178 (GRCm39) missense probably benign
R8861:Hbs1l UTSW 10 21,220,963 (GRCm39) splice site probably benign
R8878:Hbs1l UTSW 10 21,234,711 (GRCm39) missense possibly damaging 0.47
R8880:Hbs1l UTSW 10 21,185,868 (GRCm39) missense probably damaging 0.99
R8933:Hbs1l UTSW 10 21,243,584 (GRCm39) nonsense probably null
R9462:Hbs1l UTSW 10 21,218,304 (GRCm39) missense probably damaging 1.00
R9654:Hbs1l UTSW 10 21,183,604 (GRCm39) missense possibly damaging 0.95
X0018:Hbs1l UTSW 10 21,227,886 (GRCm39) missense probably damaging 0.99
Predicted Primers PCR Primer
(F):5'- TGCTAGGAATGGATACCAGGC -3'
(R):5'- TTGCCCCTGACAGGTGAATATATAG -3'

Sequencing Primer
(F):5'- CCCTGGCCGAGCTCTGC -3'
(R):5'- TGAAGGGTGTTCAGGAGCC -3'
Posted On 2015-05-15