Incidental Mutation 'R1366:Hck'
ID |
156026 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Hck
|
Ensembl Gene |
ENSMUSG00000003283 |
Gene Name |
hemopoietic cell kinase |
Synonyms |
Bmk, Hck-1 |
MMRRC Submission |
039431-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.355)
|
Stock # |
R1366 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
2 |
Chromosomal Location |
152950388-152993361 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 152980215 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glycine to Aspartic acid
at position 348
(G348D)
|
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: G348D
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000003370 Gene: ENSMUSG00000003283 AA Change: G348D
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: G327D
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000105423 Gene: ENSMUSG00000003283 AA Change: G327D
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: G327D
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000141030 Gene: ENSMUSG00000003283 AA Change: G327D
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: G348D
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000139988 Gene: ENSMUSG00000003283 AA Change: G348D
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 |
|
Meta Mutation Damage Score |
0.6475 |
Coding Region Coverage |
- 1x: 98.6%
- 3x: 97.1%
- 10x: 92.3%
- 20x: 80.8%
|
Validation Efficiency |
93% (43/46) |
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: 38 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aasdh |
A |
T |
5: 77,036,651 (GRCm39) |
S297T |
probably benign |
Het |
Acsm1 |
T |
C |
7: 119,257,511 (GRCm39) |
|
probably benign |
Het |
Ankar |
T |
A |
1: 72,737,808 (GRCm39) |
N125Y |
probably damaging |
Het |
Ccdc121 |
T |
A |
5: 31,644,861 (GRCm39) |
C205S |
probably benign |
Het |
Chd1l |
T |
C |
3: 97,488,465 (GRCm39) |
D517G |
probably damaging |
Het |
Cir1 |
A |
T |
2: 73,136,757 (GRCm39) |
|
probably benign |
Het |
Cpxm1 |
G |
A |
2: 130,238,042 (GRCm39) |
R136W |
probably damaging |
Het |
Dnah10 |
A |
T |
5: 124,830,390 (GRCm39) |
E761D |
probably benign |
Het |
Fam186a |
T |
A |
15: 99,841,270 (GRCm39) |
E1658V |
possibly damaging |
Het |
Fam98a |
A |
G |
17: 75,846,381 (GRCm39) |
|
probably benign |
Het |
Fanca |
G |
A |
8: 124,031,020 (GRCm39) |
|
probably benign |
Het |
Frmd6 |
T |
C |
12: 70,934,663 (GRCm39) |
|
probably benign |
Het |
Gmpr2 |
T |
C |
14: 55,914,200 (GRCm39) |
|
probably benign |
Het |
Ifnab |
T |
A |
4: 88,609,337 (GRCm39) |
Q43L |
possibly damaging |
Het |
Ilkap |
A |
G |
1: 91,314,937 (GRCm39) |
I142T |
possibly damaging |
Het |
Lamc3 |
T |
C |
2: 31,818,859 (GRCm39) |
S1206P |
probably damaging |
Het |
Mfsd13a |
C |
T |
19: 46,354,943 (GRCm39) |
T40I |
probably benign |
Het |
Mid1 |
A |
C |
X: 168,769,090 (GRCm39) |
N215H |
probably damaging |
Het |
Mkrn1 |
T |
C |
6: 39,382,851 (GRCm39) |
T134A |
probably benign |
Het |
Mmp9 |
T |
A |
2: 164,795,262 (GRCm39) |
V628E |
probably damaging |
Het |
Msi2 |
A |
T |
11: 88,607,406 (GRCm39) |
V67D |
probably damaging |
Het |
Ncapd3 |
T |
A |
9: 26,969,236 (GRCm39) |
V630E |
probably damaging |
Het |
Nkain1 |
A |
G |
4: 130,537,316 (GRCm38) |
V73A |
probably damaging |
Het |
Nphp4 |
T |
A |
4: 152,587,383 (GRCm39) |
D245E |
probably damaging |
Het |
Or14j3 |
T |
C |
17: 37,900,655 (GRCm39) |
I196M |
probably benign |
Het |
Or7a41 |
T |
G |
10: 78,870,876 (GRCm39) |
M82R |
probably damaging |
Het |
Or9g8 |
G |
A |
2: 85,607,348 (GRCm39) |
C140Y |
probably benign |
Het |
Pkd1l1 |
T |
C |
11: 8,891,038 (GRCm39) |
|
probably benign |
Het |
Plcxd1 |
A |
C |
5: 110,250,096 (GRCm39) |
I184L |
probably damaging |
Het |
Prl3b1 |
G |
A |
13: 27,427,848 (GRCm39) |
A53T |
probably benign |
Het |
Rasl10b |
G |
A |
11: 83,308,665 (GRCm39) |
|
probably null |
Het |
Scube2 |
A |
G |
7: 109,403,821 (GRCm39) |
Y890H |
probably damaging |
Het |
Slco6c1 |
T |
A |
1: 97,055,928 (GRCm39) |
|
probably null |
Het |
Tnfaip2 |
T |
G |
12: 111,415,756 (GRCm39) |
F485V |
probably benign |
Het |
Tpd52 |
T |
C |
3: 9,028,993 (GRCm39) |
D17G |
probably damaging |
Het |
Ube4b |
T |
C |
4: 149,419,606 (GRCm39) |
D1034G |
probably damaging |
Het |
Vmn2r118 |
G |
A |
17: 55,900,237 (GRCm39) |
Q556* |
probably null |
Het |
Zftraf1 |
T |
C |
15: 76,533,169 (GRCm39) |
R190G |
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 |
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 |
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 |
|
Posted On |
2014-02-11 |