Incidental Mutation 'R3623:Zap70'
ID |
268694 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Zap70
|
Ensembl Gene |
ENSMUSG00000026117 |
Gene Name |
zeta-chain (TCR) associated protein kinase |
Synonyms |
ZAP-70, TZK, Srk |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.246)
|
Stock # |
R3623 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
1 |
Chromosomal Location |
36800879-36821899 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 36818216 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Isoleucine
at position 301
(T301I)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000027291
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027291]
|
AlphaFold |
P43404 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000027291
AA Change: T301I
PolyPhen 2
Score 0.025 (Sensitivity: 0.95; Specificity: 0.81)
|
SMART Domains |
Protein: ENSMUSP00000027291 Gene: ENSMUSG00000026117 AA Change: T301I
Domain | Start | End | E-Value | Type |
SH2
|
8 |
93 |
6.73e-25 |
SMART |
SH2
|
161 |
245 |
1.59e-26 |
SMART |
low complexity region
|
257 |
265 |
N/A |
INTRINSIC |
TyrKc
|
337 |
592 |
1e-128 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000190128
|
Meta Mutation Damage Score |
0.0898 |
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.6%
|
Validation Efficiency |
100% (69/69) |
MGI Phenotype |
FUNCTION: This gene encodes a member of the protein tyrosine kinase family. The encoded protein is essential for development of T lymphocytes and thymocytes, and functions in the initial step of T lymphocyte receptor-mediated signal transduction. A mutation in this gene causes chronic autoimmune arthritis, similar to rheumatoid arthritis in humans. Mice lacking this gene are deficient in alpha-beta T lymphocytes in the thymus. In humans, mutations in this gene cause selective T-cell defect, a severe combined immunodeficiency disease characterized by a selective absence of CD8-positive T lymphocytes. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2014] PHENOTYPE: Mutant mice show T cell defects. Null mutants lack alpha-beta T cells in the thymus and have fewer T cells in dendritic and intestinal epithelium. Spontaneous and knock-in missense mutations affect T cell receptor signaling, one of the former resulting in severe chronic arthritis. [provided by MGI curators]
|
Allele List at MGI |
All alleles(15) : Targeted, knock-out(2) Targeted, other(7) Gene trapped(1) Spontaneous(2) Chemically induced(3) |
Other mutations in this stock |
Total: 71 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adcy1 |
A |
G |
11: 7,080,348 (GRCm39) |
T364A |
probably benign |
Het |
Adpgk |
G |
A |
9: 59,221,036 (GRCm39) |
V281I |
probably benign |
Het |
Akap9 |
C |
A |
5: 4,026,235 (GRCm39) |
Q1297K |
possibly damaging |
Het |
Ankrd13d |
T |
C |
19: 4,331,968 (GRCm39) |
E110G |
probably damaging |
Het |
Ankrd53 |
A |
G |
6: 83,740,244 (GRCm39) |
E104G |
possibly damaging |
Het |
Becn2 |
T |
C |
1: 175,748,197 (GRCm39) |
C88R |
possibly damaging |
Het |
Bscl2 |
T |
A |
19: 8,818,514 (GRCm39) |
C40S |
probably benign |
Het |
Btaf1 |
A |
G |
19: 36,958,486 (GRCm39) |
T668A |
probably benign |
Het |
Camk2g |
G |
A |
14: 20,805,775 (GRCm39) |
|
probably benign |
Het |
Cd109 |
A |
T |
9: 78,574,639 (GRCm39) |
D541V |
probably damaging |
Het |
Cep135 |
G |
A |
5: 76,772,586 (GRCm39) |
G657D |
probably benign |
Het |
Coch |
A |
G |
12: 51,649,609 (GRCm39) |
I307V |
probably benign |
Het |
D17H6S53E |
A |
G |
17: 35,346,512 (GRCm39) |
E141G |
probably benign |
Het |
Ddias |
T |
C |
7: 92,508,800 (GRCm39) |
T372A |
probably benign |
Het |
Dffb |
T |
C |
4: 154,049,976 (GRCm39) |
T296A |
probably damaging |
Het |
Dock8 |
A |
G |
19: 25,057,241 (GRCm39) |
Q216R |
probably benign |
Het |
Ep400 |
T |
C |
5: 110,867,102 (GRCm39) |
Y1014C |
unknown |
Het |
Ephx1 |
A |
G |
1: 180,817,498 (GRCm39) |
I391T |
probably benign |
Het |
Fcgbp |
A |
G |
7: 27,800,701 (GRCm39) |
Y1249C |
probably damaging |
Het |
Gm5592 |
T |
C |
7: 40,807,052 (GRCm39) |
|
probably benign |
Het |
Gm7964 |
A |
G |
7: 83,405,629 (GRCm39) |
N149S |
probably benign |
Het |
Greb1l |
T |
A |
18: 10,542,380 (GRCm39) |
I1325N |
probably damaging |
Het |
H2-T3 |
T |
C |
17: 36,500,957 (GRCm39) |
T20A |
possibly damaging |
Het |
Htr1d |
T |
C |
4: 136,170,815 (GRCm39) |
I348T |
probably damaging |
Het |
Hyal4 |
A |
T |
6: 24,765,737 (GRCm39) |
S364C |
probably damaging |
Het |
Igkv1-133 |
A |
T |
6: 67,701,944 (GRCm39) |
Q16L |
probably benign |
Het |
Irs2 |
C |
T |
8: 11,057,643 (GRCm39) |
G263D |
probably damaging |
Het |
Itga10 |
C |
T |
3: 96,559,054 (GRCm39) |
|
probably benign |
Het |
Kmt2a |
A |
G |
9: 44,760,263 (GRCm39) |
Y529H |
probably damaging |
Het |
Mdfic |
T |
A |
6: 15,770,319 (GRCm39) |
N108K |
probably damaging |
Het |
Met |
A |
T |
6: 17,549,085 (GRCm39) |
D979V |
probably damaging |
Het |
Mettl21e |
T |
A |
1: 44,245,857 (GRCm39) |
I130F |
probably damaging |
Het |
Mlh3 |
C |
T |
12: 85,315,169 (GRCm39) |
C339Y |
probably damaging |
Het |
Mog |
T |
C |
17: 37,323,338 (GRCm39) |
H200R |
possibly damaging |
Het |
Msrb3 |
C |
T |
10: 120,620,103 (GRCm39) |
R72H |
probably damaging |
Het |
Mtmr11 |
A |
G |
3: 96,072,583 (GRCm39) |
H324R |
probably damaging |
Het |
Myh7 |
T |
C |
14: 55,210,838 (GRCm39) |
E1693G |
probably damaging |
Het |
Nadk2 |
T |
A |
15: 9,084,303 (GRCm39) |
W139R |
probably damaging |
Het |
Ndufa9 |
A |
T |
6: 126,821,362 (GRCm39) |
M76K |
possibly damaging |
Het |
Nr1i2 |
A |
G |
16: 38,086,269 (GRCm39) |
|
probably benign |
Het |
Nsd3 |
A |
G |
8: 26,152,835 (GRCm39) |
T392A |
probably damaging |
Het |
Or14a259 |
A |
G |
7: 86,013,308 (GRCm39) |
F79S |
probably benign |
Het |
Or52d3 |
T |
C |
7: 104,229,149 (GRCm39) |
S99P |
probably damaging |
Het |
P2ry2 |
A |
T |
7: 100,647,706 (GRCm39) |
S200T |
probably benign |
Het |
Pcnt |
T |
A |
10: 76,269,584 (GRCm39) |
E228V |
probably benign |
Het |
Phka2 |
T |
A |
X: 159,327,291 (GRCm39) |
Y334* |
probably null |
Het |
Pkhd1l1 |
A |
T |
15: 44,390,265 (GRCm39) |
K1460N |
probably damaging |
Het |
Rpl7a-ps3 |
G |
A |
15: 36,308,429 (GRCm39) |
|
noncoding transcript |
Het |
Rspry1 |
A |
G |
8: 95,376,405 (GRCm39) |
D309G |
probably damaging |
Het |
Scap |
A |
G |
9: 110,209,271 (GRCm39) |
Y648C |
probably damaging |
Het |
Sgcz |
T |
C |
8: 38,420,201 (GRCm39) |
E17G |
probably damaging |
Het |
Slc17a5 |
A |
T |
9: 78,445,556 (GRCm39) |
V433D |
probably damaging |
Het |
Smad9 |
C |
T |
3: 54,696,705 (GRCm39) |
R257W |
probably damaging |
Het |
Srcap |
T |
C |
7: 127,141,319 (GRCm39) |
S1639P |
probably damaging |
Het |
Strn3 |
T |
C |
12: 51,707,999 (GRCm39) |
Y132C |
possibly damaging |
Het |
Tas2r110 |
A |
T |
6: 132,845,433 (GRCm39) |
M155L |
probably benign |
Het |
Tasor2 |
T |
C |
13: 3,645,556 (GRCm39) |
T98A |
probably benign |
Het |
Thbd |
A |
G |
2: 148,248,893 (GRCm39) |
V325A |
probably damaging |
Het |
Trpd52l3 |
T |
A |
19: 29,981,333 (GRCm39) |
C29* |
probably null |
Het |
Trpm1 |
A |
G |
7: 63,894,601 (GRCm39) |
Y951C |
probably damaging |
Het |
Ube3a |
T |
A |
7: 58,921,860 (GRCm39) |
N77K |
probably damaging |
Het |
Upp2 |
G |
A |
2: 58,680,128 (GRCm39) |
R300Q |
possibly damaging |
Het |
Usp35 |
T |
C |
7: 96,961,827 (GRCm39) |
H533R |
probably damaging |
Het |
Veph1 |
C |
T |
3: 66,122,858 (GRCm39) |
V224I |
probably benign |
Het |
Vmn1r30 |
A |
T |
6: 58,412,437 (GRCm39) |
F132I |
probably benign |
Het |
Vmn2r24 |
A |
G |
6: 123,792,997 (GRCm39) |
R775G |
probably damaging |
Het |
Vps13c |
T |
A |
9: 67,883,189 (GRCm39) |
|
probably null |
Het |
Vps37c |
T |
A |
19: 10,683,569 (GRCm39) |
|
probably null |
Het |
Zfp341 |
A |
G |
2: 154,466,801 (GRCm39) |
K57E |
probably damaging |
Het |
Zfp60 |
T |
A |
7: 27,448,753 (GRCm39) |
F474I |
probably benign |
Het |
Zfp786 |
T |
C |
6: 47,798,357 (GRCm39) |
N194D |
probably benign |
Het |
|
Other mutations in Zap70 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
mrtless
|
APN |
1 |
36,820,230 (GRCm39) |
missense |
probably damaging |
1.00 |
murdock
|
APN |
1 |
36,818,785 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL00763:Zap70
|
APN |
1 |
36,818,333 (GRCm39) |
missense |
possibly damaging |
0.81 |
IGL01635:Zap70
|
APN |
1 |
36,810,238 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL01918:Zap70
|
APN |
1 |
36,817,868 (GRCm39) |
missense |
possibly damaging |
0.64 |
IGL02164:Zap70
|
APN |
1 |
36,810,267 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL02502:Zap70
|
APN |
1 |
36,817,887 (GRCm39) |
splice site |
probably benign |
|
IGL02597:Zap70
|
APN |
1 |
36,811,001 (GRCm39) |
nonsense |
probably null |
|
IGL03026:Zap70
|
APN |
1 |
36,818,798 (GRCm39) |
missense |
possibly damaging |
0.94 |
biscayne
|
UTSW |
1 |
36,820,493 (GRCm39) |
missense |
probably damaging |
1.00 |
mesa_verde
|
UTSW |
1 |
36,818,254 (GRCm39) |
missense |
probably damaging |
1.00 |
shazzam
|
UTSW |
1 |
36,820,218 (GRCm39) |
missense |
probably damaging |
1.00 |
trebia
|
UTSW |
1 |
36,820,106 (GRCm39) |
missense |
probably damaging |
1.00 |
wanna
|
UTSW |
1 |
36,810,064 (GRCm39) |
missense |
probably damaging |
1.00 |
wanna2
|
UTSW |
1 |
36,820,493 (GRCm39) |
missense |
probably damaging |
1.00 |
wanna3
|
UTSW |
1 |
36,817,299 (GRCm39) |
missense |
probably damaging |
0.99 |
wanna4
|
UTSW |
1 |
36,820,446 (GRCm39) |
missense |
probably damaging |
1.00 |
want_to
|
UTSW |
1 |
36,821,598 (GRCm39) |
missense |
probably damaging |
1.00 |
waterfowl
|
UTSW |
1 |
36,809,892 (GRCm39) |
start codon destroyed |
probably null |
0.03 |
zapatos
|
UTSW |
1 |
36,810,262 (GRCm39) |
missense |
possibly damaging |
0.89 |
zipper
|
UTSW |
1 |
36,809,983 (GRCm39) |
missense |
probably benign |
0.09 |
PIT1430001:Zap70
|
UTSW |
1 |
36,818,250 (GRCm39) |
missense |
possibly damaging |
0.95 |
R0487:Zap70
|
UTSW |
1 |
36,818,365 (GRCm39) |
missense |
probably damaging |
1.00 |
R0701:Zap70
|
UTSW |
1 |
36,820,258 (GRCm39) |
missense |
probably damaging |
1.00 |
R0960:Zap70
|
UTSW |
1 |
36,818,254 (GRCm39) |
missense |
probably damaging |
1.00 |
R1520:Zap70
|
UTSW |
1 |
36,810,036 (GRCm39) |
missense |
probably damaging |
1.00 |
R2064:Zap70
|
UTSW |
1 |
36,818,215 (GRCm39) |
missense |
probably benign |
|
R3689:Zap70
|
UTSW |
1 |
36,820,493 (GRCm39) |
missense |
probably damaging |
1.00 |
R3690:Zap70
|
UTSW |
1 |
36,820,493 (GRCm39) |
missense |
probably damaging |
1.00 |
R3804:Zap70
|
UTSW |
1 |
36,810,223 (GRCm39) |
missense |
possibly damaging |
0.58 |
R3840:Zap70
|
UTSW |
1 |
36,817,498 (GRCm39) |
missense |
probably damaging |
1.00 |
R4260:Zap70
|
UTSW |
1 |
36,818,189 (GRCm39) |
splice site |
probably benign |
|
R4383:Zap70
|
UTSW |
1 |
36,820,042 (GRCm39) |
missense |
probably damaging |
1.00 |
R4632:Zap70
|
UTSW |
1 |
36,817,539 (GRCm39) |
missense |
probably benign |
|
R4783:Zap70
|
UTSW |
1 |
36,818,254 (GRCm39) |
missense |
probably damaging |
1.00 |
R5051:Zap70
|
UTSW |
1 |
36,820,532 (GRCm39) |
missense |
probably benign |
0.00 |
R5271:Zap70
|
UTSW |
1 |
36,820,446 (GRCm39) |
missense |
probably damaging |
1.00 |
R5304:Zap70
|
UTSW |
1 |
36,817,299 (GRCm39) |
missense |
probably damaging |
0.99 |
R5792:Zap70
|
UTSW |
1 |
36,818,090 (GRCm39) |
intron |
probably benign |
|
R5932:Zap70
|
UTSW |
1 |
36,820,227 (GRCm39) |
missense |
probably damaging |
1.00 |
R5941:Zap70
|
UTSW |
1 |
36,810,030 (GRCm39) |
missense |
probably damaging |
1.00 |
R6694:Zap70
|
UTSW |
1 |
36,821,598 (GRCm39) |
missense |
probably damaging |
1.00 |
R6825:Zap70
|
UTSW |
1 |
36,817,471 (GRCm39) |
missense |
probably damaging |
1.00 |
R7039:Zap70
|
UTSW |
1 |
36,817,832 (GRCm39) |
missense |
probably benign |
|
R7704:Zap70
|
UTSW |
1 |
36,818,395 (GRCm39) |
critical splice donor site |
probably null |
|
R7769:Zap70
|
UTSW |
1 |
36,809,983 (GRCm39) |
missense |
probably benign |
0.09 |
R8115:Zap70
|
UTSW |
1 |
36,820,287 (GRCm39) |
missense |
probably damaging |
1.00 |
R8140:Zap70
|
UTSW |
1 |
36,810,262 (GRCm39) |
missense |
possibly damaging |
0.89 |
R8289:Zap70
|
UTSW |
1 |
36,820,218 (GRCm39) |
missense |
probably damaging |
1.00 |
R9186:Zap70
|
UTSW |
1 |
36,818,832 (GRCm39) |
missense |
possibly damaging |
0.66 |
R9540:Zap70
|
UTSW |
1 |
36,817,869 (GRCm39) |
missense |
possibly damaging |
0.95 |
R9654:Zap70
|
UTSW |
1 |
36,818,327 (GRCm39) |
missense |
probably benign |
0.03 |
R9674:Zap70
|
UTSW |
1 |
36,810,150 (GRCm39) |
missense |
probably benign |
0.10 |
S24628:Zap70
|
UTSW |
1 |
36,809,892 (GRCm39) |
start codon destroyed |
probably null |
0.03 |
Z1176:Zap70
|
UTSW |
1 |
36,818,257 (GRCm39) |
nonsense |
probably null |
|
|
Predicted Primers |
PCR Primer
(F):5'- CCCATGGGCCTGTATATCCTAG -3'
(R):5'- GTCCATGGCTCCTACAACTC -3'
Sequencing Primer
(F):5'- GGCCTGTATATCCTAGTGTATGCC -3'
(R):5'- GCCATACTTGCGCATGC -3'
|
Posted On |
2015-02-19 |