Incidental Mutation 'R8399:Hck'
ID 647752
Institutional Source Beutler Lab
Gene Symbol Hck
Ensembl Gene ENSMUSG00000003283
Gene Name hemopoietic cell kinase
Synonyms Bmk, Hck-1
MMRRC Submission 067762-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.319) question?
Stock # R8399 (G1)
Quality Score 225.009
Status Not validated
Chromosome 2
Chromosomal Location 152950388-152993361 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 152980237 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Asparagine at position 355 (K355N)
Ref Sequence ENSEMBL: ENSMUSP00000003370 (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: K355N

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000003370
Gene: ENSMUSG00000003283
AA Change: K355N

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: K334N

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000105423
Gene: ENSMUSG00000003283
AA Change: K334N

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: K334N

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000141030
Gene: ENSMUSG00000003283
AA Change: K334N

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: K355N

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000139988
Gene: ENSMUSG00000003283
AA Change: K355N

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
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.2%
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: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrv1 A T 13: 81,637,289 (GRCm39) V3384D possibly damaging Het
Apba3 C A 10: 81,104,832 (GRCm39) T35N probably benign Het
Bcl6 T C 16: 23,791,698 (GRCm39) M219V probably benign Het
Bco2 T A 9: 50,452,418 (GRCm39) T217S probably benign Het
C1s1 C T 6: 124,512,252 (GRCm39) V277I probably benign Het
Ccdc162 T A 10: 41,415,517 (GRCm39) R2149W probably damaging Het
Cers6 T C 2: 68,692,115 (GRCm39) F46L probably benign Het
Chpf T C 1: 75,452,864 (GRCm39) I359V probably benign Het
Chrnb4 A C 9: 54,951,107 (GRCm39) L52R probably benign Het
Cox6a1 T C 5: 115,483,958 (GRCm39) T95A probably damaging Het
Def8 T A 8: 124,182,238 (GRCm39) Y197* probably null Het
Dmbt1 C G 7: 130,684,317 (GRCm39) D778E unknown Het
Dnaaf3 C T 7: 4,526,936 (GRCm39) probably null Het
Dnm1l T A 16: 16,139,536 (GRCm39) H484L probably damaging Het
Eml1 G A 12: 108,504,390 (GRCm39) S783N possibly damaging Het
Frmd4a T C 2: 4,577,244 (GRCm39) S367P probably damaging Het
Hexim2 G T 11: 103,029,329 (GRCm39) R127L probably damaging Het
Hivep2 T C 10: 14,008,178 (GRCm39) L1592P possibly damaging Het
Htr1d G A 4: 136,170,686 (GRCm39) G305E probably damaging Het
Ifi207 G A 1: 173,557,844 (GRCm39) S298L unknown Het
Ighv1-11 A G 12: 114,576,047 (GRCm39) V56A possibly damaging Het
Ighv7-1 G A 12: 113,860,532 (GRCm39) T12I unknown Het
Kctd14 T C 7: 97,106,811 (GRCm39) L22P probably damaging Het
Klra17 T C 6: 129,851,900 (GRCm39) probably benign Het
Kndc1 C T 7: 139,493,434 (GRCm39) R467W probably damaging Het
Maf T A 8: 116,433,251 (GRCm39) I118F unknown Het
Mppe1 T C 18: 67,358,946 (GRCm39) T341A probably benign Het
Mtmr2 T A 9: 13,703,363 (GRCm39) V186E probably benign Het
Nedd9 G T 13: 41,471,950 (GRCm39) Y176* probably null Het
Omd A G 13: 49,743,345 (GRCm39) I132V possibly damaging Het
Or12e10 A C 2: 87,640,568 (GRCm39) M135L probably damaging Het
Or4a39 T C 2: 89,237,028 (GRCm39) T132A probably benign Het
Pcnx4 T A 12: 72,620,985 (GRCm39) M935K probably benign Het
Pecr G A 1: 72,306,624 (GRCm39) T219I probably benign Het
Pkd1l3 C T 8: 110,350,520 (GRCm39) P455L possibly damaging Het
Plcg2 T C 8: 118,323,101 (GRCm39) Y719H probably damaging Het
Plk4 C T 3: 40,763,265 (GRCm39) R479* probably null Het
Pms1 T A 1: 53,307,091 (GRCm39) probably null Het
Raph1 C T 1: 60,528,477 (GRCm39) S928N unknown Het
Rtp4 G T 16: 23,339,164 (GRCm39) probably benign Het
Skor1 C T 9: 63,052,440 (GRCm39) V510I possibly damaging Het
Smg1 T C 7: 117,789,794 (GRCm39) T699A unknown Het
Tcp11l1 T C 2: 104,515,720 (GRCm39) D381G probably benign Het
Tnik T A 3: 28,548,159 (GRCm39) M56K unknown Het
Trappc9 G A 15: 72,924,131 (GRCm39) R204C probably damaging Het
Trmt10b A T 4: 45,305,870 (GRCm39) M184L possibly damaging Het
Vmn1r224 T A 17: 20,640,011 (GRCm39) I196N probably damaging Het
Vmn1r49 A T 6: 90,049,689 (GRCm39) C104* probably null Het
Vmn2r35 A C 7: 7,819,897 (GRCm39) S124R probably benign Het
Wdr62 T C 7: 29,957,486 (GRCm39) E547G probably damaging Het
Zfp68 A T 5: 138,606,082 (GRCm39) D80E probably benign 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
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
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 PCR Primer
(F):5'- AATCGGAGACCAGTCTGAACAA -3'
(R):5'- ATGAGTTGGTTCATATGAAGAACAG -3'

Sequencing Primer
(F):5'- GAAAGTCATACCTGGCTTGCC -3'
(R):5'- GTTAGATTCCATAGGCCAGCTAG -3'
Posted On 2020-09-02