Incidental Mutation 'R5811:Hcls1'
ID 447531
Institutional Source Beutler Lab
Gene Symbol Hcls1
Ensembl Gene ENSMUSG00000022831
Gene Name hematopoietic cell specific Lyn substrate 1
Synonyms HS1
MMRRC Submission 043213-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.461) question?
Stock # R5811 (G1)
Quality Score 225
Status Not validated
Chromosome 16
Chromosomal Location 36755345-36783574 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 36777702 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Valine at position 274 (M274V)
Ref Sequence ENSEMBL: ENSMUSP00000023531 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023531] [ENSMUST00000164050]
AlphaFold P49710
Predicted Effect probably null
Transcript: ENSMUST00000023531
AA Change: M274V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000023531
Gene: ENSMUSG00000022831
AA Change: M274V

DomainStartEndE-ValueType
Pfam:HS1_rep 82 117 6.6e-23 PFAM
Pfam:HS1_rep 119 154 1.2e-23 PFAM
Pfam:HS1_rep 156 191 3.3e-21 PFAM
Pfam:HS1_rep 193 220 2.1e-14 PFAM
coiled coil region 238 273 N/A INTRINSIC
low complexity region 358 390 N/A INTRINSIC
SH3 432 486 1.2e-19 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000163755
Predicted Effect probably benign
Transcript: ENSMUST00000164050
SMART Domains Protein: ENSMUSP00000127186
Gene: ENSMUSG00000022831

DomainStartEndE-ValueType
Pfam:HS1_rep 82 118 6e-24 PFAM
Pfam:HS1_rep 119 136 1.1e-9 PFAM
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 95.9%
Validation Efficiency
MGI Phenotype PHENOTYPE: Mice homozygous for disruptions in this gene show impaired antibody production to T-independent antigen and impaired proliferative responses of splenic B and T cells after cross-linking of antigen receptors. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Btnl1 A T 17: 34,604,503 (GRCm39) K428M probably damaging Het
Chid1 G A 7: 141,110,166 (GRCm39) T53M probably damaging Het
Clnk A G 5: 38,870,490 (GRCm39) V356A probably damaging Het
Cryba4 C T 5: 112,398,937 (GRCm39) V36I probably benign Het
Dct A G 14: 118,250,600 (GRCm39) V466A probably benign Het
Dnmt3l A G 10: 77,887,929 (GRCm39) D146G possibly damaging Het
Epas1 A G 17: 87,131,203 (GRCm39) N328D probably damaging Het
Fat4 C T 3: 38,945,936 (GRCm39) R1610W probably damaging Het
Filip1l T C 16: 57,390,657 (GRCm39) V415A probably damaging Het
Garnl3 A G 2: 32,896,911 (GRCm39) L576P probably damaging Het
Gjd3 A T 11: 98,873,226 (GRCm39) V206E possibly damaging Het
Gpr135 A T 12: 72,116,641 (GRCm39) D375E possibly damaging Het
Gsdme T A 6: 50,222,925 (GRCm39) Q130L probably benign Het
Kcnn4 T C 7: 24,077,030 (GRCm39) V193A probably damaging Het
Kctd16 T C 18: 40,391,505 (GRCm39) V31A probably damaging Het
Lamc2 C T 1: 153,041,999 (GRCm39) R45Q possibly damaging Het
Lrrc66 T A 5: 73,772,860 (GRCm39) I203F possibly damaging Het
Mark4 T C 7: 19,182,564 (GRCm39) D91G probably damaging Het
Mcm6 A T 1: 128,263,465 (GRCm39) probably benign Het
Mecom C T 3: 30,015,149 (GRCm39) S602N probably benign Het
Muc5ac T C 7: 141,352,721 (GRCm39) V736A possibly damaging Het
Nr2e3 TCCATCGGAGTGTTCCC TC 9: 59,850,701 (GRCm39) probably benign Het
Or2h2c C A 17: 37,422,649 (GRCm39) C75F probably benign Het
Pdia5 A T 16: 35,269,790 (GRCm39) M173K possibly damaging Het
Pih1d2 T C 9: 50,532,374 (GRCm39) L144P probably damaging Het
Plch2 C T 4: 155,077,024 (GRCm39) E577K possibly damaging Het
Samd4b T C 7: 28,107,445 (GRCm39) S275G probably damaging Het
Sap130 T C 18: 31,822,495 (GRCm39) V668A probably benign Het
Sema3c T A 5: 17,880,188 (GRCm39) probably null Het
Slc9a8 C T 2: 167,313,307 (GRCm39) R390* probably null Het
Vmn2r89 A T 14: 51,693,565 (GRCm39) N305I probably benign Het
Wdr33 T C 18: 32,035,673 (GRCm39) F1164L unknown Het
Zfp873 T A 10: 81,896,567 (GRCm39) C470S probably damaging Het
Other mutations in Hcls1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00903:Hcls1 APN 16 36,776,383 (GRCm39) critical splice donor site probably null
IGL01022:Hcls1 APN 16 36,771,488 (GRCm39) intron probably benign
IGL02838:Hcls1 APN 16 36,782,781 (GRCm39) missense probably damaging 1.00
R0125:Hcls1 UTSW 16 36,782,525 (GRCm39) missense probably benign 0.14
R0137:Hcls1 UTSW 16 36,771,536 (GRCm39) missense probably damaging 0.99
R0230:Hcls1 UTSW 16 36,758,216 (GRCm39) missense probably damaging 1.00
R0614:Hcls1 UTSW 16 36,782,987 (GRCm39) missense probably damaging 1.00
R1897:Hcls1 UTSW 16 36,783,005 (GRCm39) missense probably damaging 1.00
R2246:Hcls1 UTSW 16 36,782,984 (GRCm39) missense probably damaging 0.97
R4037:Hcls1 UTSW 16 36,776,987 (GRCm39) missense possibly damaging 0.74
R4397:Hcls1 UTSW 16 36,757,662 (GRCm39) missense possibly damaging 0.50
R4777:Hcls1 UTSW 16 36,775,678 (GRCm39) missense probably damaging 1.00
R4978:Hcls1 UTSW 16 36,758,222 (GRCm39) missense probably damaging 1.00
R5432:Hcls1 UTSW 16 36,781,910 (GRCm39) missense probably benign
R6601:Hcls1 UTSW 16 36,782,748 (GRCm39) missense probably benign 0.00
R7794:Hcls1 UTSW 16 36,782,426 (GRCm39) missense probably damaging 1.00
R8040:Hcls1 UTSW 16 36,771,511 (GRCm39) missense probably damaging 0.97
R8439:Hcls1 UTSW 16 36,767,003 (GRCm39) missense probably benign 0.14
R8688:Hcls1 UTSW 16 36,781,821 (GRCm39) missense probably benign
R8782:Hcls1 UTSW 16 36,777,663 (GRCm39) missense probably benign
R9157:Hcls1 UTSW 16 36,777,000 (GRCm39) missense probably benign 0.34
R9313:Hcls1 UTSW 16 36,777,000 (GRCm39) missense probably benign 0.34
R9495:Hcls1 UTSW 16 36,777,702 (GRCm39) missense probably benign 0.01
Z1176:Hcls1 UTSW 16 36,781,854 (GRCm39) missense possibly damaging 0.89
Predicted Primers PCR Primer
(F):5'- CGCTCATTTATACAAGTACCATTCC -3'
(R):5'- AAGAAATGCATCTGCCCTATCTATC -3'

Sequencing Primer
(F):5'- TCTCTCCACTCAAGATCCCGG -3'
(R):5'- GCATCTGCCCTATCTATCTATCTATC -3'
Posted On 2016-12-15