Incidental Mutation 'R0614:Hcls1'
ID 54976
Institutional Source Beutler Lab
Gene Symbol Hcls1
Ensembl Gene ENSMUSG00000022831
Gene Name hematopoietic cell specific Lyn substrate 1
Synonyms HS1
MMRRC Submission 038803-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.461) question?
Stock # R0614 (G1)
Quality Score 225
Status Validated
Chromosome 16
Chromosomal Location 36755345-36783574 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 36782987 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 446 (D446G)
Ref Sequence ENSEMBL: ENSMUSP00000023531 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023531] [ENSMUST00000075869] [ENSMUST00000114806] [ENSMUST00000164050]
AlphaFold P49710
Predicted Effect probably damaging
Transcript: ENSMUST00000023531
AA Change: D446G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000023531
Gene: ENSMUSG00000022831
AA Change: D446G

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 probably benign
Transcript: ENSMUST00000075869
SMART Domains Protein: ENSMUSP00000075266
Gene: ENSMUSG00000047746

DomainStartEndE-ValueType
Pfam:zf-TRAF_2 12 104 6.1e-42 PFAM
Pfam:F-box_4 571 686 1.2e-51 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000114806
SMART Domains Protein: ENSMUSP00000110454
Gene: ENSMUSG00000047746

DomainStartEndE-ValueType
PDB:2YRE|A 12 92 1e-27 PDB
SCOP:d1k2fa_ 62 97 5e-4 SMART
Blast:FBOX 578 616 1e-8 BLAST
Predicted Effect noncoding transcript
Transcript: ENSMUST00000127808
Predicted Effect noncoding transcript
Transcript: ENSMUST00000132511
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
Meta Mutation Damage Score 0.4433 question?
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.9%
  • 10x: 97.4%
  • 20x: 94.9%
Validation Efficiency 97% (61/63)
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: 61 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2210408I21Rik C T 13: 77,340,782 (GRCm39) T137I probably benign Het
3110082I17Rik C T 5: 139,349,786 (GRCm39) V88I possibly damaging Het
4930453N24Rik T A 16: 64,586,977 (GRCm39) Q249L probably damaging Het
Ap1g2 C T 14: 55,337,230 (GRCm39) V702I probably benign Het
Armcx5 G A X: 134,647,564 (GRCm39) E547K probably damaging Het
Asah2 C A 19: 31,994,128 (GRCm39) V406L probably damaging Het
Atp8b1 T C 18: 64,666,658 (GRCm39) probably benign Het
Axl C A 7: 25,473,588 (GRCm39) R346L probably benign Het
Baz1a G A 12: 54,988,304 (GRCm39) R282* probably null Het
Card14 A G 11: 119,213,653 (GRCm39) N200S probably benign Het
Cdt1 A G 8: 123,294,876 (GRCm39) T28A probably benign Het
Cep250 C T 2: 155,812,017 (GRCm39) Q438* probably null Het
Dapk1 C A 13: 60,865,946 (GRCm39) P181Q probably damaging Het
Dnah17 C T 11: 117,961,394 (GRCm39) probably benign Het
Dph7 T C 2: 24,858,968 (GRCm39) probably null Het
Edc4 A T 8: 106,616,028 (GRCm39) D801V possibly damaging Het
Eif4g2 A G 7: 110,676,430 (GRCm39) probably null Het
Eml2 T C 7: 18,936,516 (GRCm39) L531P probably damaging Het
Ephb2 T C 4: 136,400,676 (GRCm39) Y533C probably benign Het
Fcho1 C T 8: 72,165,204 (GRCm39) A418T probably benign Het
Fsip2 A G 2: 82,807,877 (GRCm39) K1399E probably benign Het
Hif1a T A 12: 73,992,405 (GRCm39) N787K probably damaging Het
Ints14 T C 9: 64,871,715 (GRCm39) S18P probably benign Het
Kalrn A T 16: 33,814,040 (GRCm39) probably benign Het
Llgl2 T A 11: 115,741,093 (GRCm39) D502E probably damaging Het
Lrwd1 A G 5: 136,152,354 (GRCm39) V570A probably damaging Het
Mga C G 2: 119,794,947 (GRCm39) P2877R probably damaging Het
Mvd T C 8: 123,163,292 (GRCm39) I313V probably benign Het
Myo15b C A 11: 115,773,739 (GRCm39) P270T probably damaging Het
Naip1 C A 13: 100,580,708 (GRCm39) V180L probably benign Het
Ofd1 T C X: 165,218,536 (GRCm39) probably benign Het
Or1j19 T A 2: 36,676,705 (GRCm39) L56H probably damaging Het
Or4c125 T A 2: 89,170,329 (GRCm39) I106F probably damaging Het
Or4d11 A T 19: 12,013,929 (GRCm39) M59K possibly damaging Het
Otogl G A 10: 107,634,216 (GRCm39) P1420S probably benign Het
Pakap C A 4: 57,856,720 (GRCm39) A926E probably benign Het
Pcnt C T 10: 76,256,150 (GRCm39) V697M probably damaging Het
Plekha7 A T 7: 115,753,880 (GRCm39) Y702* probably null Het
Plxnb3 A G X: 72,807,964 (GRCm39) probably benign Het
Ptgis A G 2: 167,048,802 (GRCm39) F405L probably damaging Het
Ptprk C T 10: 27,951,132 (GRCm39) P19L probably damaging Het
Ptprt A G 2: 161,654,040 (GRCm39) V530A possibly damaging Het
Rasgrp4 A T 7: 28,845,276 (GRCm39) Y299F probably damaging Het
Slc39a11 T A 11: 113,414,452 (GRCm39) probably null Het
Slc6a15 T A 10: 103,240,213 (GRCm39) L312* probably null Het
Slf1 T A 13: 77,197,233 (GRCm39) M794L probably benign Het
Sntg2 G A 12: 30,307,977 (GRCm39) T236I possibly damaging Het
Stau1 T C 2: 166,792,726 (GRCm39) Y413C probably damaging Het
Syne2 T G 12: 75,959,127 (GRCm39) probably null Het
Tas2r104 A T 6: 131,662,165 (GRCm39) N181K probably damaging Het
Tmem81 G A 1: 132,435,469 (GRCm39) V92I probably benign Het
Trap1 A G 16: 3,878,615 (GRCm39) probably benign Het
Trip12 T C 1: 84,735,482 (GRCm39) E905G probably damaging Het
Usp2 C T 9: 44,003,789 (GRCm39) R494* probably null Het
Vps13a G T 19: 16,630,058 (GRCm39) R2692S probably damaging Het
Zfhx3 T C 8: 109,675,171 (GRCm39) S2074P probably benign Het
Zfhx3 C G 8: 109,675,599 (GRCm39) Y2216* probably null Het
Zfp423 A G 8: 88,508,742 (GRCm39) F409S probably damaging Het
Zfp472 G A 17: 33,196,908 (GRCm39) E328K possibly damaging Het
Zfp619 T A 7: 39,187,099 (GRCm39) M1043K possibly damaging Het
Zfp940 T C 7: 29,545,671 (GRCm39) I79V probably benign 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
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
R5811:Hcls1 UTSW 16 36,777,702 (GRCm39) missense probably null
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'- GTTTGAAGCTACCTGAAGGGCCTG -3'
(R):5'- CACCTGGAGCGATTCTACCTAAAGC -3'

Sequencing Primer
(F):5'- CTGAAGGGCCTGGTACACTTG -3'
(R):5'- CAGGCATCTCATGATGTTCAG -3'
Posted On 2013-07-11