Incidental Mutation 'IGL00466:Hck'
ID |
11210 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Hck
|
Ensembl Gene |
ENSMUSG00000003283 |
Gene Name |
hemopoietic cell kinase |
Synonyms |
Bmk, Hck-1 |
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.355)
|
Stock # |
IGL00466
|
Quality Score |
|
Status
|
|
Chromosome |
2 |
Chromosomal Location |
152950388-152993361 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 152978653 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Serine
at position 289
(T289S)
|
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 benign
Transcript: ENSMUST00000003370
AA Change: T289S
PolyPhen 2
Score 0.080 (Sensitivity: 0.93; Specificity: 0.85)
|
SMART Domains |
Protein: ENSMUSP00000003370 Gene: ENSMUSG00000003283 AA Change: T289S
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 benign
Transcript: ENSMUST00000109799
AA Change: T268S
PolyPhen 2
Score 0.080 (Sensitivity: 0.93; Specificity: 0.85)
|
SMART Domains |
Protein: ENSMUSP00000105423 Gene: ENSMUSG00000003283 AA Change: T268S
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 benign
Transcript: ENSMUST00000189688
AA Change: T268S
PolyPhen 2
Score 0.080 (Sensitivity: 0.93; Specificity: 0.85)
|
SMART Domains |
Protein: ENSMUSP00000141030 Gene: ENSMUSG00000003283 AA Change: T268S
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 benign
Transcript: ENSMUST00000191431
AA Change: T289S
PolyPhen 2
Score 0.080 (Sensitivity: 0.93; Specificity: 0.85)
|
SMART Domains |
Protein: ENSMUSP00000139988 Gene: ENSMUSG00000003283 AA Change: T289S
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 |
|
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: 21 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ablim1 |
C |
T |
19: 57,056,618 (GRCm39) |
A359T |
probably damaging |
Het |
Atm |
A |
G |
9: 53,410,412 (GRCm39) |
|
probably benign |
Het |
Ccdc59 |
G |
A |
10: 105,683,035 (GRCm39) |
S240N |
probably benign |
Het |
Ccdc59 |
A |
T |
10: 105,683,034 (GRCm39) |
S240C |
probably benign |
Het |
Chrm1 |
A |
T |
19: 8,655,438 (GRCm39) |
I48F |
probably benign |
Het |
Col28a1 |
T |
C |
6: 8,022,081 (GRCm39) |
|
probably benign |
Het |
Gys2 |
G |
A |
6: 142,409,016 (GRCm39) |
Q80* |
probably null |
Het |
Il1rapl2 |
A |
G |
X: 137,735,292 (GRCm39) |
D403G |
probably damaging |
Het |
Kif16b |
A |
T |
2: 142,689,955 (GRCm39) |
L319* |
probably null |
Het |
Kit |
T |
C |
5: 75,771,479 (GRCm39) |
I212T |
probably benign |
Het |
Mroh5 |
G |
A |
15: 73,664,638 (GRCm39) |
|
probably benign |
Het |
Muc6 |
T |
C |
7: 141,232,169 (GRCm39) |
Y986C |
possibly damaging |
Het |
Nln |
A |
C |
13: 104,172,153 (GRCm39) |
V641G |
probably damaging |
Het |
Nyap2 |
C |
A |
1: 81,169,695 (GRCm39) |
L151I |
probably damaging |
Het |
Plce1 |
A |
G |
19: 38,709,473 (GRCm39) |
Y1109C |
probably damaging |
Het |
Slc10a4 |
T |
C |
5: 73,169,263 (GRCm39) |
I296T |
probably damaging |
Het |
Slc35c1 |
T |
A |
2: 92,284,703 (GRCm39) |
I304F |
probably benign |
Het |
Stxbp2 |
C |
T |
8: 3,684,065 (GRCm39) |
A124V |
probably benign |
Het |
Stxbp5 |
A |
G |
10: 9,675,694 (GRCm39) |
Y642H |
probably damaging |
Het |
Tecta |
T |
C |
9: 42,243,844 (GRCm39) |
T2003A |
probably damaging |
Het |
Zfp804a |
C |
A |
2: 81,884,219 (GRCm39) |
L29I |
probably benign |
Het |
|
Other mutations in Hck |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
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 |
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 |
|
Posted On |
2012-12-06 |