Incidental Mutation 'R8488:Hck'
| ID |
657833 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Hck
|
| Ensembl Gene |
ENSMUSG00000003283 |
| Gene Name |
hemopoietic cell kinase |
| Synonyms |
Bmk, Hck-1 |
| MMRRC Submission |
067931-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.355)
|
| Stock # |
R8488 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
152950388-152993361 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 152966130 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Glutamic Acid
at position 35
(K35E)
|
| 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: K35E
PolyPhen 2
Score 0.315 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000003370
Gene: ENSMUSG00000003283
AA Change: K35E
| 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: K14E
PolyPhen 2
Score 0.315 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000105423
Gene: ENSMUSG00000003283
AA Change: K14E
| 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: K14E
PolyPhen 2
Score 0.315 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000141030
Gene: ENSMUSG00000003283
AA Change: K14E
| 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: K35E
PolyPhen 2
Score 0.315 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000139988
Gene: ENSMUSG00000003283
AA Change: K35E
| 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: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
100% (39/39) |
| 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 |
|---|
| Actg1 |
A |
G |
11: 120,238,517 (GRCm39) |
V160A |
possibly damaging |
Het |
| Anapc5 |
A |
G |
5: 122,956,033 (GRCm39) |
*96Q |
probably null |
Het |
| Ano2 |
A |
G |
6: 125,957,133 (GRCm39) |
Y634C |
probably damaging |
Het |
| Appl2 |
T |
C |
10: 83,446,866 (GRCm39) |
K406R |
probably benign |
Het |
| Arhgef15 |
T |
A |
11: 68,838,496 (GRCm39) |
|
probably null |
Het |
| Atp13a4 |
C |
A |
16: 29,236,654 (GRCm39) |
E868D |
possibly damaging |
Het |
| BC005624 |
T |
C |
2: 30,871,857 (GRCm39) |
K6E |
possibly damaging |
Het |
| Cd200l2 |
A |
G |
16: 45,348,834 (GRCm39) |
Y113H |
probably damaging |
Het |
| Cenpe |
T |
A |
3: 134,965,002 (GRCm39) |
I2024N |
probably damaging |
Het |
| Clint1 |
T |
G |
11: 45,781,457 (GRCm39) |
Y176D |
probably damaging |
Het |
| Crxos |
T |
C |
7: 15,637,625 (GRCm39) |
S65P |
possibly damaging |
Het |
| Cyp4f15 |
A |
G |
17: 32,920,948 (GRCm39) |
T408A |
probably benign |
Het |
| Depdc1a |
A |
G |
3: 159,229,512 (GRCm39) |
M615V |
probably damaging |
Het |
| Dpysl2 |
T |
C |
14: 67,066,850 (GRCm39) |
I194M |
possibly damaging |
Het |
| Dsg2 |
A |
G |
18: 20,734,431 (GRCm39) |
Y803C |
probably damaging |
Het |
| Dtd2 |
A |
G |
12: 52,046,344 (GRCm39) |
L165P |
probably benign |
Het |
| Gabrb2 |
A |
T |
11: 42,517,491 (GRCm39) |
S438C |
possibly damaging |
Het |
| Gjb5 |
C |
A |
4: 127,250,078 (GRCm39) |
R22L |
probably damaging |
Het |
| Gls |
A |
G |
1: 52,239,012 (GRCm39) |
|
probably null |
Het |
| Gm10800 |
AAGAAAACTGAAAATCAT |
A |
2: 98,497,379 (GRCm39) |
|
probably benign |
Het |
| Gstt2 |
T |
A |
10: 75,667,823 (GRCm39) |
S211C |
possibly damaging |
Het |
| Idh2 |
GGTCCCAG |
GG |
7: 79,748,077 (GRCm39) |
|
probably benign |
Het |
| Igsf10 |
C |
T |
3: 59,227,431 (GRCm39) |
G2081R |
probably damaging |
Het |
| Lrp1 |
C |
T |
10: 127,396,356 (GRCm39) |
E2403K |
probably damaging |
Het |
| Or3a1 |
C |
T |
11: 74,225,932 (GRCm39) |
V42I |
probably benign |
Het |
| Or6c3b |
T |
A |
10: 129,527,343 (GRCm39) |
D189V |
probably damaging |
Het |
| Phlpp2 |
A |
T |
8: 110,640,202 (GRCm39) |
M456L |
probably benign |
Het |
| Pnp2 |
A |
G |
14: 51,201,836 (GRCm39) |
E274G |
possibly damaging |
Het |
| Pold3 |
T |
C |
7: 99,738,938 (GRCm39) |
Y303C |
probably benign |
Het |
| Prr5 |
C |
T |
15: 84,578,005 (GRCm39) |
R96C |
probably damaging |
Het |
| Repin1 |
A |
T |
6: 48,570,952 (GRCm39) |
D2V |
probably damaging |
Het |
| Sec23b |
T |
A |
2: 144,423,983 (GRCm39) |
V544E |
probably damaging |
Het |
| Slc6a17 |
A |
G |
3: 107,384,574 (GRCm39) |
F342S |
possibly damaging |
Het |
| Slco4c1 |
T |
C |
1: 96,759,736 (GRCm39) |
N532S |
probably benign |
Het |
| Slitrk3 |
T |
G |
3: 72,958,520 (GRCm39) |
Y84S |
probably benign |
Het |
| Srcin1 |
T |
C |
11: 97,416,686 (GRCm39) |
|
probably null |
Het |
| Syne2 |
C |
T |
12: 76,012,546 (GRCm39) |
A2580V |
probably benign |
Het |
| Tex48 |
C |
T |
4: 63,530,160 (GRCm39) |
E20K |
probably benign |
Het |
| Trip13 |
A |
T |
13: 74,081,032 (GRCm39) |
N111K |
probably benign |
Het |
| Ugcg |
T |
A |
4: 59,213,896 (GRCm39) |
N159K |
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 |
|
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 |
|
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'- ATGTGTGCTCTGGCTAAGCAC -3'
(R):5'- CAGGTAAGAAGCAGCTTCCAC -3'
Sequencing Primer
(F):5'- TAAGCACCGTGGCCGATGAG -3'
(R):5'- GTAAGAAGCAGCTTCCACGTCTG -3'
|
| Posted On |
2021-01-18 |
Incidental Mutation