Incidental Mutation 'IGL00466:Hck'
ID 11210
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Hck
Ensembl Gene ENSMUSG00000003283
Gene Name hemopoietic cell kinase
Synonyms Bmk, Hck-1
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.355) question?
Stock # IGL00466
Quality Score
Status
Chromosome 2
Chromosomal Location 152950388-152993361 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 152978653 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Serine at position 289 (T289S)
Ref Sequence ENSEMBL: ENSMUSP00000139988 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000003370] [ENSMUST00000109799] [ENSMUST00000189688] [ENSMUST00000191431]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000003370
AA Change: T289S

PolyPhen 2 Score 0.080 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000003370
Gene: ENSMUSG00000003283
AA Change: T289S

DomainStartEndE-ValueType
SH3 79 135 6e-20 SMART
SH2 140 230 2.51e-33 SMART
TyrKc 260 509 7.71e-130 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000109799
AA Change: T268S

PolyPhen 2 Score 0.080 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000105423
Gene: ENSMUSG00000003283
AA Change: T268S

DomainStartEndE-ValueType
SH3 58 114 6e-20 SMART
SH2 119 209 2.51e-33 SMART
TyrKc 239 488 7.71e-130 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000189688
AA Change: T268S

PolyPhen 2 Score 0.080 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000141030
Gene: ENSMUSG00000003283
AA Change: T268S

DomainStartEndE-ValueType
SH3 58 114 6e-20 SMART
SH2 119 209 2.51e-33 SMART
TyrKc 239 488 7.71e-130 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000191431
AA Change: T289S

PolyPhen 2 Score 0.080 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000139988
Gene: ENSMUSG00000003283
AA Change: T289S

DomainStartEndE-ValueType
SH3 79 135 6e-20 SMART
SH2 140 230 2.51e-33 SMART
TyrKc 260 509 7.71e-130 SMART
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: The protein encoded by this gene is a member of the Src family of tyrosine kinases. This protein is primarily hemopoietic, particularly in cells of the myeloid and B-lymphoid lineages. It may play a role in the innate immune response and the STAT5 signaling pathway. Alternative translation initiation site usage, including a non-AUG (CUG) codon, results in the production of two different isoforms, that have different subcellular localization. [provided by RefSeq, Feb 2010]
PHENOTYPE: Macrophages from mice homozygous for a targeted null mutation exhibit impaired phagocytosis. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 21 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ablim1 C T 19: 57,056,618 (GRCm39) A359T probably damaging Het
Atm A G 9: 53,410,412 (GRCm39) probably benign Het
Ccdc59 G A 10: 105,683,035 (GRCm39) S240N probably benign Het
Ccdc59 A T 10: 105,683,034 (GRCm39) S240C probably benign Het
Chrm1 A T 19: 8,655,438 (GRCm39) I48F probably benign Het
Col28a1 T C 6: 8,022,081 (GRCm39) probably benign Het
Gys2 G A 6: 142,409,016 (GRCm39) Q80* probably null Het
Il1rapl2 A G X: 137,735,292 (GRCm39) D403G probably damaging Het
Kif16b A T 2: 142,689,955 (GRCm39) L319* probably null Het
Kit T C 5: 75,771,479 (GRCm39) I212T probably benign Het
Mroh5 G A 15: 73,664,638 (GRCm39) probably benign Het
Muc6 T C 7: 141,232,169 (GRCm39) Y986C possibly damaging Het
Nln A C 13: 104,172,153 (GRCm39) V641G probably damaging Het
Nyap2 C A 1: 81,169,695 (GRCm39) L151I probably damaging Het
Plce1 A G 19: 38,709,473 (GRCm39) Y1109C probably damaging Het
Slc10a4 T C 5: 73,169,263 (GRCm39) I296T probably damaging Het
Slc35c1 T A 2: 92,284,703 (GRCm39) I304F probably benign Het
Stxbp2 C T 8: 3,684,065 (GRCm39) A124V probably benign Het
Stxbp5 A G 10: 9,675,694 (GRCm39) Y642H probably damaging Het
Tecta T C 9: 42,243,844 (GRCm39) T2003A probably damaging Het
Zfp804a C A 2: 81,884,219 (GRCm39) L29I probably benign Het
Other mutations in Hck
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00489:Hck APN 2 152,992,939 (GRCm39) missense possibly damaging 0.80
IGL02682:Hck APN 2 152,976,054 (GRCm39) missense probably damaging 0.98
PIT4466001:Hck UTSW 2 152,966,191 (GRCm39) missense probably damaging 1.00
R0143:Hck UTSW 2 152,976,140 (GRCm39) critical splice donor site probably null
R0441:Hck UTSW 2 152,976,052 (GRCm39) missense probably benign 0.02
R1300:Hck UTSW 2 152,976,067 (GRCm39) missense possibly damaging 0.94
R1366:Hck UTSW 2 152,980,215 (GRCm39) missense probably damaging 1.00
R1445:Hck UTSW 2 152,970,192 (GRCm39) missense probably benign 0.01
R1978:Hck UTSW 2 152,971,776 (GRCm39) missense probably damaging 1.00
R4953:Hck UTSW 2 152,976,597 (GRCm39) missense probably damaging 1.00
R5243:Hck UTSW 2 152,986,412 (GRCm39) missense probably damaging 1.00
R5247:Hck UTSW 2 152,976,615 (GRCm39) nonsense probably null
R5890:Hck UTSW 2 152,970,996 (GRCm39) missense probably damaging 1.00
R7467:Hck UTSW 2 152,971,850 (GRCm39) nonsense probably null
R7673:Hck UTSW 2 152,971,005 (GRCm39) missense possibly damaging 0.95
R8328:Hck UTSW 2 152,970,987 (GRCm39) missense probably damaging 1.00
R8399:Hck UTSW 2 152,980,237 (GRCm39) missense probably damaging 0.99
R8488:Hck UTSW 2 152,966,130 (GRCm39) missense probably benign 0.31
R9090:Hck UTSW 2 152,973,185 (GRCm39) missense probably damaging 1.00
R9271:Hck UTSW 2 152,973,185 (GRCm39) missense probably damaging 1.00
R9345:Hck UTSW 2 152,992,904 (GRCm39) missense probably benign 0.19
R9550:Hck UTSW 2 152,976,651 (GRCm39) missense probably benign 0.01
X0025:Hck UTSW 2 152,990,888 (GRCm39) missense probably damaging 1.00
Posted On 2012-12-06