Incidental Mutation 'R6601:Hcls1'
ID525297
Institutional Source Beutler Lab
Gene Symbol Hcls1
Ensembl Gene ENSMUSG00000022831
Gene Namehematopoietic cell specific Lyn substrate 1
SynonymsHS1
MMRRC Submission
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.357) question?
Stock #R6601 (G1)
Quality Score225.009
Status Validated
Chromosome16
Chromosomal Location36934983-36963212 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to A at 36962386 bp
ZygosityHeterozygous
Amino Acid Change Glycine to Aspartic acid at position 428 (G428D)
Ref Sequence ENSEMBL: ENSMUSP00000023531 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023531] [ENSMUST00000075869] [ENSMUST00000114806] [ENSMUST00000164050]
Predicted Effect probably benign
Transcript: ENSMUST00000023531
AA Change: G428D

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000023531
Gene: ENSMUSG00000022831
AA Change: G428D

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
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.5%
  • 10x: 97.7%
  • 20x: 93.0%
Validation Efficiency 98% (41/42)
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: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aox1 T G 1: 58,063,506 L527R probably damaging Het
Ccdc172 T A 19: 58,537,291 C194S possibly damaging Het
Ccnb1ip1 G T 14: 50,793,664 T64K possibly damaging Het
Ces1b T C 8: 93,079,481 E44G probably benign Het
Coro2a A T 4: 46,543,421 Y317* probably null Het
Csnk1a1 T C 18: 61,578,758 F281S probably damaging Het
Ddx28 A T 8: 106,010,616 probably null Het
Dtnbp1 A G 13: 44,931,245 probably null Het
Eif2s1 T C 12: 78,883,352 I258T possibly damaging Het
Elp3 T C 14: 65,547,039 *554W probably null Het
Golga1 T C 2: 39,020,106 M610V probably damaging Het
Hc T A 2: 35,045,894 K156N probably benign Het
Il16 T C 7: 83,722,469 D43G probably damaging Het
Klhl3 C A 13: 58,095,116 K91N probably damaging Het
L3mbtl1 C T 2: 162,948,175 probably benign Het
Lamc3 T C 2: 31,920,532 F805L possibly damaging Het
Lipg T C 18: 74,948,204 M269V probably benign Het
Ly75 G A 2: 60,318,376 T1203I probably benign Het
Mat1a T A 14: 41,105,604 V5E probably benign Het
Muc16 A T 9: 18,637,570 L5809Q probably benign Het
Naip6 G A 13: 100,283,758 R1335C probably benign Het
Ndufaf3 T C 9: 108,566,217 H128R probably benign Het
Nphp4 A T 4: 152,503,007 probably null Het
Olfr52 T A 2: 86,181,965 I49F probably damaging Het
Otop3 T C 11: 115,339,847 V148A probably damaging Het
Ovgp1 T C 3: 105,986,431 probably benign Het
Pcsk5 T G 19: 17,511,380 R1025S probably benign Het
Pkd1l2 T C 8: 117,040,666 D1295G probably benign Het
Polr1d T A 5: 147,078,549 L14* probably null Het
Rab26 T A 17: 24,529,621 K270* probably null Het
Rasgef1c T A 11: 49,971,419 N378K probably damaging Het
Rpl7a T C 2: 26,911,524 V76A probably benign Het
Samd9l T A 6: 3,377,229 I11F possibly damaging Het
Smarca2 C A 19: 26,654,377 Q531K probably benign Het
Styxl1 C G 5: 135,755,496 G211A probably benign Het
Taar9 T C 10: 24,109,047 Y163C probably damaging Het
Tmem198 T A 1: 75,480,373 F48I possibly damaging Het
Ttn T A 2: 76,764,729 N12032I probably damaging Het
Ubr7 T A 12: 102,761,464 C82S probably damaging Het
Wwtr1 T C 3: 57,575,738 E48G possibly damaging Het
Zfp108 T C 7: 24,261,394 V470A probably damaging Het
Zfp612 C A 8: 110,089,549 Q424K possibly damaging Het
Zscan4-ps1 T C 7: 11,068,834 T13A probably benign Het
Other mutations in Hcls1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00903:Hcls1 APN 16 36956021 critical splice donor site probably null
IGL01022:Hcls1 APN 16 36951126 intron probably benign
IGL02838:Hcls1 APN 16 36962419 missense probably damaging 1.00
R0125:Hcls1 UTSW 16 36962163 missense probably benign 0.14
R0137:Hcls1 UTSW 16 36951174 missense probably damaging 0.99
R0230:Hcls1 UTSW 16 36937854 missense probably damaging 1.00
R0614:Hcls1 UTSW 16 36962625 missense probably damaging 1.00
R1897:Hcls1 UTSW 16 36962643 missense probably damaging 1.00
R2246:Hcls1 UTSW 16 36962622 missense probably damaging 0.97
R4037:Hcls1 UTSW 16 36956625 missense possibly damaging 0.74
R4397:Hcls1 UTSW 16 36937300 missense possibly damaging 0.50
R4777:Hcls1 UTSW 16 36955316 missense probably damaging 1.00
R4978:Hcls1 UTSW 16 36937860 missense probably damaging 1.00
R5432:Hcls1 UTSW 16 36961548 missense probably benign
R5811:Hcls1 UTSW 16 36957340 missense probably null
R7794:Hcls1 UTSW 16 36962064 missense probably damaging 1.00
R8040:Hcls1 UTSW 16 36951149 missense probably damaging 0.97
R8439:Hcls1 UTSW 16 36946641 missense probably benign 0.14
Z1176:Hcls1 UTSW 16 36961492 missense possibly damaging 0.89
Predicted Primers PCR Primer
(F):5'- CTATGAGGATGTGCTGGAGC -3'
(R):5'- TCAGATGGGAATTCCTCTGTGC -3'

Sequencing Primer
(F):5'- ATGTGCTGGAGCCCGAG -3'
(R):5'- GTGCCCTCTCTAAGCCTTAGGG -3'
Posted On2018-06-22