Incidental Mutation 'R7295:Hbs1l'
ID 566681
Institutional Source Beutler Lab
Gene Symbol Hbs1l
Ensembl Gene ENSMUSG00000019977
Gene Name Hbs1-like (S. cerevisiae)
Synonyms eRFS, 2810035F15Rik
MMRRC Submission 045363-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7295 (G1)
Quality Score 101.008
Status Not validated
Chromosome 10
Chromosomal Location 21171876-21244788 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 21186051 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 491 (V491A)
Ref Sequence ENSEMBL: ENSMUSP00000090344 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020153] [ENSMUST00000061324] [ENSMUST00000092674] [ENSMUST00000218032] [ENSMUST00000218714] [ENSMUST00000219915]
AlphaFold Q69ZS7
Predicted Effect probably benign
Transcript: ENSMUST00000020153
SMART Domains Protein: ENSMUSP00000020153
Gene: ENSMUSG00000019977

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: ENSMUST00000061324
SMART Domains Protein: ENSMUSP00000135902
Gene: ENSMUSG00000019977

DomainStartEndE-ValueType
Pfam:HBS1_N 10 125 1.5e-22 PFAM
low complexity region 311 331 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000092674
AA Change: V491A

PolyPhen 2 Score 0.119 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000090344
Gene: ENSMUSG00000019977
AA Change: V491A

DomainStartEndE-ValueType
Pfam:HBS1_N 13 127 2e-25 PFAM
low complexity region 311 331 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000218032
Predicted Effect probably benign
Transcript: ENSMUST00000218714
Predicted Effect probably benign
Transcript: ENSMUST00000219915
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.3%
Validation Efficiency 98% (59/60)
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: 61 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
a A T 2: 154,887,678 (GRCm39) D46V probably damaging Het
Acp7 A T 7: 28,328,955 (GRCm39) F75Y possibly damaging Het
Adamts19 T A 18: 58,970,955 (GRCm39) Y180N probably damaging Het
Adck1 G T 12: 88,397,815 (GRCm39) D150Y probably damaging Het
Alb T A 5: 90,610,693 (GRCm39) probably null Het
Baat A T 4: 49,490,275 (GRCm39) Y270N probably damaging Het
Bmp7 A T 2: 172,781,690 (GRCm39) I58N probably damaging Het
Bpifb9a C T 2: 154,109,616 (GRCm39) T504M probably damaging Het
Cbfa2t3 T G 8: 123,364,768 (GRCm39) D338A probably benign Het
Ccnd2 A T 6: 127,125,725 (GRCm39) C104S possibly damaging Het
Clip1 G T 5: 123,765,419 (GRCm39) Q713K probably benign Het
Ddx28 G A 8: 106,737,476 (GRCm39) S194L probably benign Het
Dync1h1 T C 12: 110,631,183 (GRCm39) probably null Het
Edil3 T A 13: 89,279,902 (GRCm39) Y193* probably null Het
Eprs1 A G 1: 185,150,407 (GRCm39) probably null Het
Ercc6l2 T G 13: 63,967,589 (GRCm39) I63R probably damaging Het
Fam171a2 T C 11: 102,329,064 (GRCm39) E565G possibly damaging Het
Fbn1 T A 2: 125,177,407 (GRCm39) D1810V probably damaging Het
Foxj2 T C 6: 122,817,190 (GRCm39) S506P probably benign Het
Frmpd1 A G 4: 45,285,700 (GRCm39) E1507G probably damaging Het
Gfm1 G A 3: 67,347,514 (GRCm39) V258I probably benign Het
Gphn T C 12: 78,538,876 (GRCm39) V174A probably benign Het
Gtpbp3 C A 8: 71,942,139 (GRCm39) S123R possibly damaging Het
H2bc8 T C 13: 23,755,943 (GRCm39) S113P probably benign Het
Hoxc12 A G 15: 102,846,810 (GRCm39) N234S probably damaging Het
Il22b A T 10: 118,130,848 (GRCm39) L16* probably null Het
Kcnj5 T C 9: 32,234,087 (GRCm39) D76G probably damaging Het
Klhl11 A G 11: 100,363,068 (GRCm39) Y163H probably damaging Het
Lonp1 G T 17: 56,929,495 (GRCm39) Q181K possibly damaging Het
Mgst1 A T 6: 138,124,754 (GRCm39) I23F probably benign Het
Muc21 G A 17: 35,929,761 (GRCm39) A1475V unknown Het
Myocos T C 1: 162,484,687 (GRCm39) R41G unknown Het
Myod1 A G 7: 46,027,643 (GRCm39) D261G probably benign Het
Nop14 C T 5: 34,796,376 (GRCm39) R781Q probably damaging Het
Nsmaf A G 4: 6,438,083 (GRCm39) V63A probably benign Het
Ntsr1 A T 2: 180,142,725 (GRCm39) H172L probably damaging Het
Or4k6 T C 14: 50,476,073 (GRCm39) K90E probably damaging Het
Or8b1c A T 9: 38,384,739 (GRCm39) E232V probably benign Het
Pcdha11 T C 18: 37,139,979 (GRCm39) V536A probably damaging Het
Pcdha6 T A 18: 37,101,189 (GRCm39) N127K probably damaging Het
Prps1l1 T A 12: 35,035,679 (GRCm39) C265S probably benign Het
Prune2 A G 19: 17,097,261 (GRCm39) S922G probably benign Het
Qpctl A T 7: 18,883,055 (GRCm39) M19K probably benign Het
Rad51 C T 2: 118,964,599 (GRCm39) T230I possibly damaging Het
Rad9b A G 5: 122,472,341 (GRCm39) F246L possibly damaging Het
Rarb A T 14: 16,508,932 (GRCm38) probably null Het
Sdcbp2 T C 2: 151,429,321 (GRCm39) S214P possibly damaging Het
Slc22a1 T A 17: 12,875,892 (GRCm39) M441L probably benign Het
Slc35f1 G A 10: 52,938,637 (GRCm39) V190I probably benign Het
Spon1 A T 7: 113,629,475 (GRCm39) Q373L possibly damaging Het
Ssbp2 T A 13: 91,842,122 (GRCm39) probably null Het
Sult1e1 T A 5: 87,726,512 (GRCm39) R201* probably null Het
Traj32 T A 14: 54,423,606 (GRCm39) L16Q Het
Ttc16 T C 2: 32,664,437 (GRCm39) I67V probably null Het
Ttn T A 2: 76,556,899 (GRCm39) K30035N probably damaging Het
Ttn T A 2: 76,776,473 (GRCm39) Y1607F unknown Het
Usp16 G A 16: 87,268,977 (GRCm39) R290H probably benign Het
Utp3 G C 5: 88,702,376 (GRCm39) probably benign Het
Xpnpep3 A G 15: 81,298,735 (GRCm39) H56R probably damaging Het
Zfp592 G T 7: 80,674,070 (GRCm39) D345Y probably damaging Het
Zfp931 A T 2: 177,709,824 (GRCm39) Y187* probably null 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
R4079: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
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'- TGGCATTTTGTAAAGCTGCC -3'
(R):5'- ACGAAGACACAGCGTTGACG -3'

Sequencing Primer
(F):5'- CGAGAGACCTGGAGAATTTATCCC -3'
(R):5'- AGCAAGGGAGGCTCTTTT -3'
Posted On 2019-06-26