Incidental Mutation 'IGL02682:Hck'
ID303396
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: 0.386) question?
Stock #IGL02682
Quality Score
Status
Chromosome2
Chromosomal Location153108468-153151441 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 153134134 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Valine at position 198 (I198V)
Ref Sequence ENSEMBL: ENSMUSP00000139988 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000003370] [ENSMUST00000109799] [ENSMUST00000189688] [ENSMUST00000191431]
Predicted Effect probably damaging
Transcript: ENSMUST00000003370
AA Change: I198V

PolyPhen 2 Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000003370
Gene: ENSMUSG00000003283
AA Change: I198V

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: I177V

PolyPhen 2 Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000105423
Gene: ENSMUSG00000003283
AA Change: I177V

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: I177V

PolyPhen 2 Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000141030
Gene: ENSMUSG00000003283
AA Change: I177V

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: I198V

PolyPhen 2 Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000139988
Gene: ENSMUSG00000003283
AA Change: I198V

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: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acvr1 A G 2: 58,477,811 S113P probably benign Het
Arhgdib A T 6: 136,924,168 W188R probably damaging Het
Bcr T A 10: 75,166,046 N927K possibly damaging Het
Cd209c A G 8: 3,940,324 Y165H probably damaging Het
Cnnm2 A G 19: 46,762,076 K102E probably benign Het
Col12a1 T C 9: 79,699,341 E600G probably damaging Het
Ddx4 A T 13: 112,622,186 H280Q probably benign Het
Eya4 T C 10: 23,116,600 Y462C probably damaging Het
Fibcd1 T A 2: 31,838,564 I94F probably damaging Het
Gm4846 C A 1: 166,494,626 G124V probably damaging Het
Gm5624 A G 14: 44,560,012 I108T possibly damaging Het
Gpr179 A T 11: 97,351,865 M51K probably benign Het
Kcnd2 T A 6: 21,216,925 C209* probably null Het
Klhl1 T A 14: 96,201,342 I507F possibly damaging Het
Knl1 A T 2: 119,077,969 K1693N possibly damaging Het
Mcam T C 9: 44,140,417 V490A possibly damaging Het
Mrgprx1 A T 7: 48,021,992 D2E probably damaging Het
Mtg1 T C 7: 140,144,729 probably benign Het
Myof C A 19: 37,921,481 R1512L probably benign Het
Nrp2 C T 1: 62,771,837 T679I probably benign Het
Nwd2 T A 5: 63,804,678 L535H probably damaging Het
Nwd2 C A 5: 63,804,677 L535I probably benign Het
Olfr1307 T A 2: 111,944,940 N172I probably damaging Het
Olfr1442 T C 19: 12,674,669 S155P probably damaging Het
Olfr592 A T 7: 103,187,014 I138F probably damaging Het
Phkb A G 8: 85,875,646 *41W probably null Het
Prl5a1 T A 13: 28,145,420 N27K probably benign Het
Rims1 T C 1: 22,288,484 T1292A probably damaging Het
Rnf38 G A 4: 44,133,745 A376V probably damaging Het
Slc34a2 T C 5: 53,059,238 V117A possibly damaging Het
Slfn8 A T 11: 83,003,691 F707L probably damaging Het
Snx16 G A 3: 10,438,175 P4L probably damaging Het
Snx6 T C 12: 54,754,345 D289G probably damaging Het
St8sia3 G T 18: 64,269,679 V130F probably damaging Het
U2surp A G 9: 95,481,651 probably null Het
Ubqln3 A G 7: 104,142,065 F273L probably benign Het
Vmn2r101 A T 17: 19,612,245 R834S possibly damaging Het
Vmn2r18 G T 5: 151,584,637 H341N probably damaging Het
Vrk3 A G 7: 44,753,820 I2V probably benign Het
Zglp1 A G 9: 21,066,238 S94P probably benign Het
Other mutations in Hck
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00466:Hck APN 2 153136733 missense probably benign 0.08
IGL00489:Hck APN 2 153151019 missense possibly damaging 0.80
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 On2015-04-16