Incidental Mutation 'IGL00489:Hck'
ID6998
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Hck
Ensembl Gene ENSMUSG00000003283
Gene Namehemopoietic cell kinase
SynonymsBmk, Hck-1
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.414) question?
Stock #IGL00489
Quality Score
Status
Chromosome2
Chromosomal Location153108468-153151441 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 153151019 bp
ZygosityHeterozygous
Amino Acid Change Glutamic Acid to Glycine at position 482 (E482G)
Ref Sequence ENSEMBL: ENSMUSP00000139988 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000003370] [ENSMUST00000109799] [ENSMUST00000189688] [ENSMUST00000191431]
Predicted Effect possibly damaging
Transcript: ENSMUST00000003370
AA Change: E482G

PolyPhen 2 Score 0.795 (Sensitivity: 0.85; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000003370
Gene: ENSMUSG00000003283
AA Change: E482G

DomainStartEndE-ValueType
SH3 79 135 6e-20 SMART
SH2 140 230 2.51e-33 SMART
TyrKc 260 509 7.71e-130 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000109799
AA Change: E461G

PolyPhen 2 Score 0.795 (Sensitivity: 0.85; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000105423
Gene: ENSMUSG00000003283
AA Change: E461G

DomainStartEndE-ValueType
SH3 58 114 6e-20 SMART
SH2 119 209 2.51e-33 SMART
TyrKc 239 488 7.71e-130 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000158874
Predicted Effect possibly damaging
Transcript: ENSMUST00000189688
AA Change: E461G

PolyPhen 2 Score 0.795 (Sensitivity: 0.85; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000141030
Gene: ENSMUSG00000003283
AA Change: E461G

DomainStartEndE-ValueType
SH3 58 114 6e-20 SMART
SH2 119 209 2.51e-33 SMART
TyrKc 239 488 7.71e-130 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000191431
AA Change: E482G

PolyPhen 2 Score 0.795 (Sensitivity: 0.85; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000139988
Gene: ENSMUSG00000003283
AA Change: E482G

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: 29 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrg6 T C 10: 14,440,403 probably null Het
Alcam T A 16: 52,295,017 probably benign Het
Aspm C A 1: 139,478,691 A1772E probably damaging Het
Bag6 T A 17: 35,144,651 D770E probably damaging Het
Baz2b A T 2: 59,957,675 Y724* probably null Het
Ccdc178 A T 18: 21,844,911 I833N probably benign Het
Ccdc28a C A 10: 18,230,513 V22F possibly damaging Het
Cmya5 T C 13: 93,093,120 N1820S probably benign Het
Fancm T G 12: 65,106,193 I1141S probably benign Het
Fgfrl1 G A 5: 108,705,887 G287S probably damaging Het
Galntl6 G A 8: 57,857,540 P376S probably damaging Het
Gm21985 A G 2: 112,337,997 probably benign Het
Kcna3 C T 3: 107,037,156 S245L probably benign Het
Mcc T C 18: 44,449,216 M798V possibly damaging Het
Nlrp9c T C 7: 26,384,588 Y522C probably benign Het
Ofcc1 C A 13: 40,280,491 S46I probably damaging Het
Pdgfra A G 5: 75,163,679 D65G probably benign Het
Phf24 A C 4: 42,933,905 T59P possibly damaging Het
Pik3cg A G 12: 32,205,149 Y280H probably damaging Het
Pkd1l1 C A 11: 8,834,773 probably null Het
Plcd4 C A 1: 74,552,115 T223N probably damaging Het
Polr1b G A 2: 129,125,909 G1074D probably damaging Het
Pou2f3 T C 9: 43,128,893 T367A probably damaging Het
Prkdc T A 16: 15,799,926 M3207K possibly damaging Het
Rb1cc1 T C 1: 6,249,506 S1050P probably damaging Het
Sf3b3 G A 8: 110,813,751 R1013* probably null Het
Svep1 T C 4: 58,068,988 T2933A possibly damaging Het
Vwf A G 6: 125,658,872 R289G unknown Het
Zfp263 T C 16: 3,745,846 S155P probably benign Het
Other mutations in Hck
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00466:Hck APN 2 153136733 missense probably benign 0.08
IGL02682:Hck APN 2 153134134 missense probably damaging 0.98
PIT4466001:Hck UTSW 2 153124271 missense probably damaging 1.00
R0143:Hck UTSW 2 153134220 critical splice donor site probably null
R0441:Hck UTSW 2 153134132 missense probably benign 0.02
R1300:Hck UTSW 2 153134147 missense possibly damaging 0.94
R1366:Hck UTSW 2 153138295 missense probably damaging 1.00
R1445:Hck UTSW 2 153128272 missense probably benign 0.01
R1978:Hck UTSW 2 153129856 missense probably damaging 1.00
R4953:Hck UTSW 2 153134677 missense probably damaging 1.00
R5243:Hck UTSW 2 153144492 missense probably damaging 1.00
R5247:Hck UTSW 2 153134695 nonsense probably null
R5890:Hck UTSW 2 153129076 missense probably damaging 1.00
R7467:Hck UTSW 2 153129930 nonsense probably null
R7673:Hck UTSW 2 153129085 missense possibly damaging 0.95
X0025:Hck UTSW 2 153148968 missense probably damaging 1.00
Posted On2012-04-20