Incidental Mutation 'R1366:Hck'
ID 156026
Institutional Source Beutler Lab
Gene Symbol Hck
Ensembl Gene ENSMUSG00000003283
Gene Name hemopoietic cell kinase
Synonyms Bmk, Hck-1
MMRRC Submission 039431-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.355) question?
Stock # R1366 (G1)
Quality Score 225
Status Validated
Chromosome 2
Chromosomal Location 152950388-152993361 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 152980215 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glycine to Aspartic acid at position 348 (G348D)
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 damaging
Transcript: ENSMUST00000003370
AA Change: G348D

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000003370
Gene: ENSMUSG00000003283
AA Change: G348D

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 damaging
Transcript: ENSMUST00000109799
AA Change: G327D

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000105423
Gene: ENSMUSG00000003283
AA Change: G327D

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 damaging
Transcript: ENSMUST00000189688
AA Change: G327D

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000141030
Gene: ENSMUSG00000003283
AA Change: G327D

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 damaging
Transcript: ENSMUST00000191431
AA Change: G348D

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000139988
Gene: ENSMUSG00000003283
AA Change: G348D

DomainStartEndE-ValueType
SH3 79 135 6e-20 SMART
SH2 140 230 2.51e-33 SMART
TyrKc 260 509 7.71e-130 SMART
Meta Mutation Damage Score 0.6475 question?
Coding Region Coverage
  • 1x: 98.6%
  • 3x: 97.1%
  • 10x: 92.3%
  • 20x: 80.8%
Validation Efficiency 93% (43/46)
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: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aasdh A T 5: 77,036,651 (GRCm39) S297T probably benign Het
Acsm1 T C 7: 119,257,511 (GRCm39) probably benign Het
Ankar T A 1: 72,737,808 (GRCm39) N125Y probably damaging Het
Ccdc121 T A 5: 31,644,861 (GRCm39) C205S probably benign Het
Chd1l T C 3: 97,488,465 (GRCm39) D517G probably damaging Het
Cir1 A T 2: 73,136,757 (GRCm39) probably benign Het
Cpxm1 G A 2: 130,238,042 (GRCm39) R136W probably damaging Het
Dnah10 A T 5: 124,830,390 (GRCm39) E761D probably benign Het
Fam186a T A 15: 99,841,270 (GRCm39) E1658V possibly damaging Het
Fam98a A G 17: 75,846,381 (GRCm39) probably benign Het
Fanca G A 8: 124,031,020 (GRCm39) probably benign Het
Frmd6 T C 12: 70,934,663 (GRCm39) probably benign Het
Gmpr2 T C 14: 55,914,200 (GRCm39) probably benign Het
Ifnab T A 4: 88,609,337 (GRCm39) Q43L possibly damaging Het
Ilkap A G 1: 91,314,937 (GRCm39) I142T possibly damaging Het
Lamc3 T C 2: 31,818,859 (GRCm39) S1206P probably damaging Het
Mfsd13a C T 19: 46,354,943 (GRCm39) T40I probably benign Het
Mid1 A C X: 168,769,090 (GRCm39) N215H probably damaging Het
Mkrn1 T C 6: 39,382,851 (GRCm39) T134A probably benign Het
Mmp9 T A 2: 164,795,262 (GRCm39) V628E probably damaging Het
Msi2 A T 11: 88,607,406 (GRCm39) V67D probably damaging Het
Ncapd3 T A 9: 26,969,236 (GRCm39) V630E probably damaging Het
Nkain1 A G 4: 130,537,316 (GRCm38) V73A probably damaging Het
Nphp4 T A 4: 152,587,383 (GRCm39) D245E probably damaging Het
Or14j3 T C 17: 37,900,655 (GRCm39) I196M probably benign Het
Or7a41 T G 10: 78,870,876 (GRCm39) M82R probably damaging Het
Or9g8 G A 2: 85,607,348 (GRCm39) C140Y probably benign Het
Pkd1l1 T C 11: 8,891,038 (GRCm39) probably benign Het
Plcxd1 A C 5: 110,250,096 (GRCm39) I184L probably damaging Het
Prl3b1 G A 13: 27,427,848 (GRCm39) A53T probably benign Het
Rasl10b G A 11: 83,308,665 (GRCm39) probably null Het
Scube2 A G 7: 109,403,821 (GRCm39) Y890H probably damaging Het
Slco6c1 T A 1: 97,055,928 (GRCm39) probably null Het
Tnfaip2 T G 12: 111,415,756 (GRCm39) F485V probably benign Het
Tpd52 T C 3: 9,028,993 (GRCm39) D17G probably damaging Het
Ube4b T C 4: 149,419,606 (GRCm39) D1034G probably damaging Het
Vmn2r118 G A 17: 55,900,237 (GRCm39) Q556* probably null Het
Zftraf1 T C 15: 76,533,169 (GRCm39) R190G probably damaging Het
Other mutations in Hck
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00466:Hck APN 2 152,978,653 (GRCm39) missense probably benign 0.08
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
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
Predicted Primers
Posted On 2014-02-11