Incidental Mutation 'IGL00903:Hcls1'
ID29132
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Hcls1
Ensembl Gene ENSMUSG00000022831
Gene Namehematopoietic cell specific Lyn substrate 1
SynonymsHS1
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.340) question?
Stock #IGL00903
Quality Score
Status
Chromosome16
Chromosomal Location36934983-36963212 bp(+) (GRCm38)
Type of Mutationcritical splice donor site (2 bp from exon)
DNA Base Change (assembly) T to A at 36956021 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000023531 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023531] [ENSMUST00000164050]
Predicted Effect probably null
Transcript: ENSMUST00000023531
SMART Domains Protein: ENSMUSP00000023531
Gene: ENSMUSG00000022831

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
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: 27 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1500012F01Rik G T 2: 167,065,486 probably benign Het
Arsk A G 13: 76,098,368 probably null Het
As3mt A G 19: 46,712,234 I159V probably benign Het
Ctsll3 C A 13: 60,800,261 V201L probably benign Het
Dapk1 T C 13: 60,761,397 Y1275H probably damaging Het
Erap1 G A 13: 74,673,707 R727H probably benign Het
Fam173b T C 15: 31,606,115 V73A possibly damaging Het
Fcrl6 T A 1: 172,599,107 T91S probably benign Het
Gvin1 T C 7: 106,158,170 E2364G probably benign Het
Hacd3 T C 9: 65,004,253 probably benign Het
Igf2r C T 17: 12,683,867 R2432H possibly damaging Het
Kif27 C A 13: 58,344,672 V218F possibly damaging Het
Klhl20 T C 1: 161,090,506 Y70C probably benign Het
Krt86 C T 15: 101,473,860 H104Y probably benign Het
Lcn12 G T 2: 25,493,320 N15K possibly damaging Het
Mrgpra1 T C 7: 47,335,578 M118V probably benign Het
Nacad G T 11: 6,600,632 T853K probably damaging Het
Nos3 A T 5: 24,369,862 Q293L probably damaging Het
Prkca C T 11: 107,983,974 V381M probably damaging Het
Ptcd3 A G 6: 71,907,844 F37S possibly damaging Het
Ptgs2 A G 1: 150,104,424 Y371C probably damaging Het
Pygl T C 12: 70,207,742 Y143C probably damaging Het
Samhd1 A G 2: 157,107,423 probably benign Het
Scube1 T A 15: 83,703,501 H89L probably damaging Het
Tmem59l G A 8: 70,485,665 probably benign Het
Vmn2r108 A G 17: 20,462,512 V810A probably damaging Het
Vmn2r61 T G 7: 42,300,511 F785C probably damaging Het
Other mutations in Hcls1
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
R6601:Hcls1 UTSW 16 36962386 missense probably benign 0.00
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
R8688:Hcls1 UTSW 16 36961459 missense probably benign
R8782:Hcls1 UTSW 16 36957301 missense probably benign
Z1176:Hcls1 UTSW 16 36961492 missense possibly damaging 0.89
Posted On2013-04-17