Mutagenetix > Incidental Mutation

Incidental Mutation 'PIT4466001:Hck'

555765

Institutional Source

Beutler Lab

Gene Symbol

Hck

Ensembl Gene

ENSMUSG00000003283

Gene Name

hemopoietic cell kinase

Synonyms

Bmk, Hck-1

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.319) question?

Stock #

PIT4466001 (G1)

Quality Score

189.009

Status

Not validated

Chromosome

Chromosomal Location

152950388-152993361 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 152966191 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Methionine at position 55 (T55M)

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: T55M

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000003370
Gene: ENSMUSG00000003283
AA Change: T55M

Domain	Start	End	E-Value	Type
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: T34M

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000105423
Gene: ENSMUSG00000003283
AA Change: T34M

Domain	Start	End	E-Value	Type
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: T34M

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000141030
Gene: ENSMUSG00000003283
AA Change: T34M

Domain	Start	End	E-Value	Type
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: T55M

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000139988
Gene: ENSMUSG00000003283
AA Change: T55M

Domain	Start	End	E-Value	Type
SH3	79	135	6e-20	SMART
SH2	140	230	2.51e-33	SMART
TyrKc	260	509	7.71e-130	SMART

Coding Region Coverage

1x: 93.5%
3x: 90.9%
10x: 85.1%
20x: 72.5%

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: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A4gnt	C	A	9: 99,502,613 (GRCm39)	P258T	probably damaging	Het
Adamts1	C	A	16: 85,593,579 (GRCm39)	G719*	probably null	Het
Ano5	G	T	7: 51,194,599 (GRCm39)	D111Y	probably damaging	Het
Arvcf	T	C	16: 18,221,699 (GRCm39)	V714A	possibly damaging	Het
AU021092	T	A	16: 5,038,253 (GRCm39)	S85C	probably damaging	Het
Capn5	T	C	7: 97,773,195 (GRCm39)	D603G	probably benign	Het
Cbr1	T	A	16: 93,406,692 (GRCm39)	V136E	probably damaging	Het
Ccdc27	T	C	4: 154,126,184 (GRCm39)	M102V	unknown	Het
Ccr1	T	C	9: 123,763,765 (GRCm39)	Y255C	probably damaging	Het
Cdr1	AAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCAGAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCAGAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCAGAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCAGAAGTCCAAGTCTTCCCAGAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCAGAAGTCCAAGTCTTCCCAGAAGTCCAAGTCTTCCCGAAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCC	AAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCAGAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCAGAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCAGAAGTCCAAGTCTTCCCAGAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCAGAAGTCCAAGTCTTCCCAGAAGTCCAAGTCTTCCCGAAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCC	X: 60,228,130 (GRCm39)		probably benign	Het
Cep112	A	G	11: 108,410,722 (GRCm39)	T553A	probably benign	Het
Chd7	C	T	4: 8,753,101 (GRCm39)	L533F	unknown	Het
Cntnap1	T	C	11: 101,068,131 (GRCm39)	F48L	probably benign	Het
Cyb5r3	T	C	15: 83,046,064 (GRCm39)	D84G	probably damaging	Het
Ddx47	T	C	6: 134,992,803 (GRCm39)	I154T	probably benign	Het
Dennd2b	G	A	7: 109,130,337 (GRCm39)	A888V	probably damaging	Het
Dnah6	A	G	6: 73,185,624 (GRCm39)	L99P	probably benign	Het
Dzank1	A	G	2: 144,325,293 (GRCm39)	I558T	probably benign	Het
Fbn1	T	C	2: 125,148,421 (GRCm39)	D2609G	possibly damaging	Het
Fhl5	C	A	4: 25,211,194 (GRCm39)	C166F	probably damaging	Het
Fndc1	A	G	17: 7,969,206 (GRCm39)	L1553P	probably damaging	Het
Frem1	G	A	4: 82,890,374 (GRCm39)	T1035I	probably benign	Het
Gm3099	A	G	14: 15,346,517 (GRCm39)	M128V	probably benign	Het
Gpaa1	C	T	15: 76,218,940 (GRCm39)	T594I	probably benign	Het
Hectd4	T	C	5: 121,471,123 (GRCm39)		probably null	Het
Ica1l	C	T	1: 60,054,995 (GRCm39)		probably null	Het
Ilf3	T	C	9: 21,314,662 (GRCm39)	Y765H	unknown	Het
Mast4	G	A	13: 102,941,226 (GRCm39)	T277M	probably damaging	Het
Mfsd6	T	C	1: 52,748,056 (GRCm39)	T270A	probably benign	Het
Mib1	G	A	18: 10,775,541 (GRCm39)	D498N	probably benign	Het
Naaladl1	A	T	19: 6,164,663 (GRCm39)	T576S	possibly damaging	Het
Ncoa6	A	T	2: 155,247,577 (GRCm39)	I1909N	probably benign	Het
Negr1	A	G	3: 156,565,235 (GRCm39)	D107G	probably benign	Het
Nlrc4	A	G	17: 74,734,114 (GRCm39)	M933T	probably benign	Het
Nmnat3	T	G	9: 98,292,306 (GRCm39)	F184V	probably benign	Het
Or4b12	A	T	2: 90,096,639 (GRCm39)	V45E	probably damaging	Het
Or5p81	T	C	7: 108,266,743 (GRCm39)	V40A	possibly damaging	Het
Or6c76	C	T	10: 129,612,142 (GRCm39)	R120C	probably benign	Het
Or7a42	C	A	10: 78,791,676 (GRCm39)	F212L	probably benign	Het
Pfkfb4	T	C	9: 108,828,222 (GRCm39)	Y86H	probably benign	Het
Pgm5	T	G	19: 24,801,693 (GRCm39)	Q178H	probably damaging	Het
Phrf1	C	T	7: 140,838,725 (GRCm39)	T640M	unknown	Het
Pramel34	A	C	5: 93,784,147 (GRCm39)	L439R	probably damaging	Het
Psg18	T	G	7: 18,083,241 (GRCm39)	T305P	probably benign	Het
Skil	T	A	3: 31,152,381 (GRCm39)	V301D	probably damaging	Het
Slc36a1	C	A	11: 55,109,895 (GRCm39)	P68T	probably damaging	Het
Smim6	T	C	11: 115,804,371 (GRCm39)	F53L	probably benign	Het
Tpgs2	G	A	18: 25,301,652 (GRCm39)	T5M	possibly damaging	Het
Trrap	T	A	5: 144,765,410 (GRCm39)	V2523D	probably benign	Het
Usp9y	A	T	Y: 1,432,197 (GRCm39)	D429E	probably damaging	Het
Vmn1r125	A	G	7: 21,006,818 (GRCm39)	T239A	probably benign	Het
Vmn1r168	T	C	7: 23,240,421 (GRCm39)	F93L	probably damaging	Het
Vmn1r88	A	G	7: 12,912,403 (GRCm39)	N253S	possibly damaging	Het
Zfp644	C	T	5: 106,784,343 (GRCm39)	A735T	probably damaging	Het

Other mutations in Hck

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
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

Predicted Primers

PCR Primer
(F):5'- GCTGAGGACCCAAGTACTTTC -3'
(R):5'- ACACTCATTTGACTGAGAGGC -3'

Sequencing Primer
(F):5'- AGTACTTTCACTCAAGGCTGTCAGG -3'
(R):5'- CAGGTAAGAAGCAGCTTC -3'

Posted On

2019-06-07