Incidental Mutation 'R4037:Hcls1'
ID 313773
Institutional Source Beutler Lab
Gene Symbol Hcls1
Ensembl Gene ENSMUSG00000022831
Gene Name hematopoietic cell specific Lyn substrate 1
Synonyms HS1
MMRRC Submission 040964-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.461) question?
Stock # R4037 (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 36776987 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 226 (T226A)
Ref Sequence ENSEMBL: ENSMUSP00000023531 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023531] [ENSMUST00000164050]
AlphaFold P49710
Predicted Effect possibly damaging
Transcript: ENSMUST00000023531
AA Change: T226A

PolyPhen 2 Score 0.740 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000023531
Gene: ENSMUSG00000022831
AA Change: T226A

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: 99.2%
  • 3x: 98.5%
  • 10x: 97.1%
  • 20x: 94.5%
Validation Efficiency 93% (37/40)
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: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adcy8 A G 15: 64,597,319 (GRCm39) F881L probably benign Het
Capn6 A G X: 142,590,859 (GRCm39) W291R probably damaging Het
Cdc27 T C 11: 104,398,033 (GRCm39) I776V probably damaging Het
Cpne5 C T 17: 29,378,087 (GRCm39) R564H unknown Het
Crnkl1 T A 2: 145,774,247 (GRCm39) D72V possibly damaging Het
Dcc A G 18: 72,483,468 (GRCm39) L17P possibly damaging Het
Dhcr24 T C 4: 106,431,075 (GRCm39) F255L probably benign Het
Eef2kmt A T 16: 5,063,135 (GRCm39) V335D probably damaging Het
Efcc1 C T 6: 87,708,490 (GRCm39) Q206* probably null Het
Glb1l3 A C 9: 26,740,343 (GRCm39) M329R probably damaging Het
Gpr137c C A 14: 45,457,687 (GRCm39) L80I probably damaging Het
Hmcn1 T A 1: 150,648,253 (GRCm39) T678S probably benign Het
Hspa2 T C 12: 76,452,542 (GRCm39) V412A probably damaging Het
Hspb8 A G 5: 116,547,403 (GRCm39) V193A probably benign Het
Man1c1 C T 4: 134,320,650 (GRCm39) D217N probably damaging Het
Metrn T C 17: 26,013,984 (GRCm39) T281A probably benign Het
Mmachc T A 4: 116,563,215 (GRCm39) T47S probably damaging Het
Ncoa6 G A 2: 155,249,290 (GRCm39) S1338L probably damaging Het
Ogfrl1 T C 1: 23,418,045 (GRCm39) probably benign Het
Or4a73 C T 2: 89,421,379 (GRCm39) V27I probably benign Het
Or4c113 A G 2: 88,885,032 (GRCm39) V246A probably damaging Het
Pax4 A G 6: 28,443,882 (GRCm39) I241T probably benign Het
Prkaa2 T C 4: 104,908,444 (GRCm39) N144D probably damaging Het
Rims1 T C 1: 22,514,793 (GRCm39) S537G probably damaging Het
Rsf1 ATGGCG ATGGCGACGGTGGCG 7: 97,229,111 (GRCm39) probably benign Het
Ruvbl1 T A 6: 88,450,117 (GRCm39) M96K probably damaging Het
Sdk2 T C 11: 113,685,881 (GRCm39) I1880V probably damaging Het
Sis T C 3: 72,835,935 (GRCm39) N885D probably benign Het
Skint5 G T 4: 113,743,011 (GRCm39) T352K unknown Het
Slc16a10 G C 10: 39,932,620 (GRCm39) H314D possibly damaging Het
Slc36a2 T C 11: 55,055,101 (GRCm39) D318G probably benign Het
Slc38a4 G A 15: 96,894,923 (GRCm39) A531V probably benign Het
Stat3 C T 11: 100,783,951 (GRCm39) G658R probably damaging Het
Tnfrsf11a A G 1: 105,755,464 (GRCm39) probably null Het
Tnk2 G T 16: 32,489,614 (GRCm39) A298S probably damaging Het
Vmn1r218 T C 13: 23,320,971 (GRCm39) V26A possibly damaging Het
Wipf3 G A 6: 54,458,813 (GRCm39) G56D 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
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'- ACATTCAGAGGGGAGCTAAACC -3'
(R):5'- CCAGTTGGTCTGACTCTTCTAGG -3'

Sequencing Primer
(F):5'- AGGCCCCAGTTCAACTGTTG -3'
(R):5'- CTCTTCTAGGAGACAGAATCTGG -3'
Posted On 2015-04-30