Incidental Mutation 'R5946:Hbs1l'
ID 472184
Institutional Source Beutler Lab
Gene Symbol Hbs1l
Ensembl Gene ENSMUSG00000019977
Gene Name Hbs1-like (S. cerevisiae)
Synonyms eRFS, 2810035F15Rik
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5946 (G1)
Quality Score 225
Status Not validated
Chromosome 10
Chromosomal Location 21171876-21244788 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 21217655 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Glutamine at position 190 (H190Q)
Ref Sequence ENSEMBL: ENSMUSP00000151689 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020153] [ENSMUST00000218032] [ENSMUST00000218714] [ENSMUST00000219915]
AlphaFold Q69ZS7
Predicted Effect probably benign
Transcript: ENSMUST00000020153
AA Change: H187Q

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000020153
Gene: ENSMUSG00000019977
AA Change: H187Q

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: ENSMUST00000218032
Predicted Effect noncoding transcript
Transcript: ENSMUST00000218108
Predicted Effect probably benign
Transcript: ENSMUST00000218714
Predicted Effect noncoding transcript
Transcript: ENSMUST00000218785
Predicted Effect noncoding transcript
Transcript: ENSMUST00000219345
Predicted Effect probably benign
Transcript: ENSMUST00000219915
AA Change: H190Q

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.5%
  • 10x: 97.6%
  • 20x: 92.4%
Validation Efficiency
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: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc9 A G 6: 142,571,678 (GRCm39) F1137S probably damaging Het
Actr6 G T 10: 89,564,054 (GRCm39) Q73K probably benign Het
Adamtsl3 G A 7: 82,225,265 (GRCm39) G358D probably damaging Het
Aggf1 A G 13: 95,508,084 (GRCm39) V94A probably damaging Het
Arpc3 A G 5: 122,541,459 (GRCm39) Y57C probably damaging Het
Asb2 A G 12: 103,287,814 (GRCm39) Y630H probably benign Het
Atp1a1 A T 3: 101,497,090 (GRCm39) N405K probably benign Het
C6 G T 15: 4,837,996 (GRCm39) D869Y possibly damaging Het
Cds2 A G 2: 132,139,168 (GRCm39) Y137C probably damaging Het
Ceacam12 A T 7: 17,803,131 (GRCm39) E179V probably damaging Het
Chgb T A 2: 132,634,516 (GRCm39) Y153N probably benign Het
Cit T A 5: 116,135,593 (GRCm39) L1831Q probably damaging Het
Cpne8 C A 15: 90,373,191 (GRCm39) *578L probably null Het
Cspg5 A G 9: 110,080,151 (GRCm39) T440A probably damaging Het
Dnah7a A C 1: 53,598,467 (GRCm39) V1393G probably damaging Het
Dnajb8 A G 6: 88,199,575 (GRCm39) D37G probably benign Het
Dst A G 1: 34,213,273 (GRCm39) I1063M probably benign Het
Efs T G 14: 55,156,951 (GRCm39) probably null Het
Gpatch1 A G 7: 34,991,257 (GRCm39) S596P probably damaging Het
Ighm A G 12: 113,386,329 (GRCm39) V7A unknown Het
Ivd A T 2: 118,707,370 (GRCm39) I295F possibly damaging Het
Kcnq5 A C 1: 21,575,931 (GRCm39) S258A probably damaging Het
Mad1l1 G T 5: 140,247,334 (GRCm39) P331Q probably damaging Het
Mcf2l G T 8: 13,063,922 (GRCm39) G1045C probably damaging Het
Mcoln1 T A 8: 3,558,701 (GRCm39) I233N probably damaging Het
Mmp13 T C 9: 7,276,580 (GRCm39) L225P probably damaging Het
Muc5ac G A 7: 141,371,644 (GRCm39) C2615Y possibly damaging Het
Myh7b T C 2: 155,463,315 (GRCm39) F516L probably damaging Het
Obsl1 A T 1: 75,467,851 (GRCm39) S1347R probably damaging Het
Ogn A G 13: 49,771,761 (GRCm39) N207S probably benign Het
Or2h15 C A 17: 38,441,598 (GRCm39) A162S probably benign Het
Or8b12 T A 9: 37,658,330 (GRCm39) L300Q probably damaging Het
Pcdha2 G T 18: 37,074,159 (GRCm39) V597L probably damaging Het
Pcnt T A 10: 76,217,897 (GRCm39) Y2126F possibly damaging Het
Pgbd5 A T 8: 125,101,056 (GRCm39) M400K possibly damaging Het
Pklr A T 3: 89,043,503 (GRCm39) E5V probably benign Het
Pkp4 T A 2: 59,135,411 (GRCm39) D94E probably benign Het
Ppan C T 9: 20,800,969 (GRCm39) Q111* probably null Het
Prkcb A G 7: 122,143,926 (GRCm39) N330S probably benign Het
Prl4a1 T A 13: 28,202,499 (GRCm39) W25R probably damaging Het
Rars2 T A 4: 34,656,855 (GRCm39) H501Q possibly damaging Het
Ryr2 T C 13: 11,741,839 (GRCm39) D2114G probably damaging Het
Serinc2 G T 4: 130,149,314 (GRCm39) T351K possibly damaging Het
Slc22a12 A G 19: 6,587,881 (GRCm39) F358L probably damaging Het
Sorcs2 A C 5: 36,186,427 (GRCm39) V905G probably damaging Het
Tekt3 G C 11: 62,985,573 (GRCm39) A460P probably damaging Het
Tm4sf1 T G 3: 57,200,289 (GRCm39) I109L possibly damaging Het
Tmc5 A T 7: 118,269,948 (GRCm39) E899D probably damaging Het
Tmem268 C T 4: 63,486,746 (GRCm39) P90S probably damaging Het
Trim38 A G 13: 23,966,717 (GRCm39) M55V probably benign Het
Trip10 T G 17: 57,557,963 (GRCm39) V50G probably damaging Het
Usp25 T A 16: 76,911,942 (GRCm39) C990* probably null Het
Uts2 A G 4: 151,083,506 (GRCm39) D39G probably benign Het
Vezf1 T A 11: 87,964,560 (GRCm39) C49* probably null Het
Wee2 T A 6: 40,440,146 (GRCm39) N431K probably null Het
Yeats2 C A 16: 20,026,513 (GRCm39) Y796* probably null Het
Zfp592 G A 7: 80,687,645 (GRCm39) G890D possibly damaging Het
Zfp647 G A 15: 76,796,285 (GRCm39) P125L 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
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
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'- GGATTGGCTCTGGTCACTTC -3'
(R):5'- AAGTTGAGGAGCTGCTTCCC -3'

Sequencing Primer
(F):5'- CTCTTTTCCAGCTTGACAGACCTG -3'
(R):5'- AGCTGCTTCCCGCCCTG -3'
Posted On 2017-03-31