Incidental Mutation 'IGL02682:Hck'
| ID |
303396 |
| 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 # |
IGL02682
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
152950388-152993361 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 152976054 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| 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]
|
| AlphaFold |
no structure available at present |
| 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
| 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: I177V
PolyPhen 2
Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000105423
Gene: ENSMUSG00000003283
AA Change: I177V
| 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: I177V
PolyPhen 2
Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000141030
Gene: ENSMUSG00000003283
AA Change: I177V
| 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: I198V
PolyPhen 2
Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000139988
Gene: ENSMUSG00000003283
AA Change: I198V
| 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: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acvr1 |
A |
G |
2: 58,367,823 (GRCm39) |
S113P |
probably benign |
Het |
| Arhgdib |
A |
T |
6: 136,901,166 (GRCm39) |
W188R |
probably damaging |
Het |
| Bcr |
T |
A |
10: 75,001,878 (GRCm39) |
N927K |
possibly damaging |
Het |
| Cd209c |
A |
G |
8: 3,990,324 (GRCm39) |
Y165H |
probably damaging |
Het |
| Cnnm2 |
A |
G |
19: 46,750,515 (GRCm39) |
K102E |
probably benign |
Het |
| Col12a1 |
T |
C |
9: 79,606,623 (GRCm39) |
E600G |
probably damaging |
Het |
| Ddx4 |
A |
T |
13: 112,758,720 (GRCm39) |
H280Q |
probably benign |
Het |
| Eya4 |
T |
C |
10: 22,992,498 (GRCm39) |
Y462C |
probably damaging |
Het |
| Fibcd1 |
T |
A |
2: 31,728,576 (GRCm39) |
I94F |
probably damaging |
Het |
| Gm4846 |
C |
A |
1: 166,322,195 (GRCm39) |
G124V |
probably damaging |
Het |
| Gm5624 |
A |
G |
14: 44,797,469 (GRCm39) |
I108T |
possibly damaging |
Het |
| Gpr179 |
A |
T |
11: 97,242,691 (GRCm39) |
M51K |
probably benign |
Het |
| Kcnd2 |
T |
A |
6: 21,216,924 (GRCm39) |
C209* |
probably null |
Het |
| Klhl1 |
T |
A |
14: 96,438,778 (GRCm39) |
I507F |
possibly damaging |
Het |
| Knl1 |
A |
T |
2: 118,908,450 (GRCm39) |
K1693N |
possibly damaging |
Het |
| Mcam |
T |
C |
9: 44,051,714 (GRCm39) |
V490A |
possibly damaging |
Het |
| Mrgprx1 |
A |
T |
7: 47,671,740 (GRCm39) |
D2E |
probably damaging |
Het |
| Mtg1 |
T |
C |
7: 139,724,642 (GRCm39) |
|
probably benign |
Het |
| Myof |
C |
A |
19: 37,909,929 (GRCm39) |
R1512L |
probably benign |
Het |
| Nrp2 |
C |
T |
1: 62,810,996 (GRCm39) |
T679I |
probably benign |
Het |
| Nwd2 |
C |
A |
5: 63,962,020 (GRCm39) |
L535I |
probably benign |
Het |
| Nwd2 |
T |
A |
5: 63,962,021 (GRCm39) |
L535H |
probably damaging |
Het |
| Or4f14b |
T |
A |
2: 111,775,285 (GRCm39) |
N172I |
probably damaging |
Het |
| Or52j3 |
A |
T |
7: 102,836,221 (GRCm39) |
I138F |
probably damaging |
Het |
| Or5b94 |
T |
C |
19: 12,652,033 (GRCm39) |
S155P |
probably damaging |
Het |
| Phkb |
A |
G |
8: 86,602,275 (GRCm39) |
*41W |
probably null |
Het |
| Prl5a1 |
T |
A |
13: 28,329,403 (GRCm39) |
N27K |
probably benign |
Het |
| Rims1 |
T |
C |
1: 22,358,708 (GRCm39) |
T1292A |
probably damaging |
Het |
| Rnf38 |
G |
A |
4: 44,133,745 (GRCm39) |
A376V |
probably damaging |
Het |
| Slc34a2 |
T |
C |
5: 53,216,580 (GRCm39) |
V117A |
possibly damaging |
Het |
| Slfn8 |
A |
T |
11: 82,894,517 (GRCm39) |
F707L |
probably damaging |
Het |
| Snx16 |
G |
A |
3: 10,503,235 (GRCm39) |
P4L |
probably damaging |
Het |
| Snx6 |
T |
C |
12: 54,801,130 (GRCm39) |
D289G |
probably damaging |
Het |
| St8sia3 |
G |
T |
18: 64,402,750 (GRCm39) |
V130F |
probably damaging |
Het |
| U2surp |
A |
G |
9: 95,363,704 (GRCm39) |
|
probably null |
Het |
| Ubqln3 |
A |
G |
7: 103,791,272 (GRCm39) |
F273L |
probably benign |
Het |
| Vmn2r101 |
A |
T |
17: 19,832,507 (GRCm39) |
R834S |
possibly damaging |
Het |
| Vmn2r18 |
G |
T |
5: 151,508,102 (GRCm39) |
H341N |
probably damaging |
Het |
| Vrk3 |
A |
G |
7: 44,403,244 (GRCm39) |
I2V |
probably benign |
Het |
| Zglp1 |
A |
G |
9: 20,977,534 (GRCm39) |
S94P |
probably benign |
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 |
|
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 |
2015-04-16 |
Incidental Mutation