Incidental Mutation 'R3689:Zap70'
ID |
269645 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Zap70
|
Ensembl Gene |
ENSMUSG00000026117 |
Gene Name |
zeta-chain (TCR) associated protein kinase |
Synonyms |
ZAP-70, TZK, Srk |
MMRRC Submission |
040684-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.322)
|
Stock # |
R3689 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
1 |
Chromosomal Location |
36800879-36821899 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 36820493 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Cysteine to Arginine
at position 563
(C563R)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000027291
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027291]
|
AlphaFold |
P43404 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000027291
AA Change: C563R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000027291 Gene: ENSMUSG00000026117 AA Change: C563R
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 |
0.9708 |
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.2%
|
Validation Efficiency |
100% (53/53) |
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: 51 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adcy2 |
A |
T |
13: 68,779,088 (GRCm39) |
L984Q |
probably damaging |
Het |
Atg16l1 |
T |
C |
1: 87,713,626 (GRCm39) |
V427A |
probably damaging |
Het |
Bclaf1 |
C |
T |
10: 20,201,143 (GRCm39) |
T423I |
possibly damaging |
Het |
Blm |
G |
C |
7: 80,162,827 (GRCm39) |
P175A |
possibly damaging |
Het |
Bpifb1 |
A |
G |
2: 154,051,819 (GRCm39) |
D208G |
probably benign |
Het |
Cdc42ep1 |
T |
C |
15: 78,731,629 (GRCm39) |
S25P |
probably benign |
Het |
Cep162 |
G |
A |
9: 87,107,747 (GRCm39) |
Q548* |
probably null |
Het |
Chchd10 |
T |
C |
10: 75,771,835 (GRCm39) |
|
probably benign |
Het |
Cog3 |
T |
C |
14: 75,991,878 (GRCm39) |
M1V |
probably null |
Het |
Dcx |
T |
C |
X: 142,660,240 (GRCm39) |
E268G |
possibly damaging |
Het |
Erich2 |
T |
C |
2: 70,371,097 (GRCm39) |
V419A |
unknown |
Het |
Fam53c |
A |
G |
18: 34,903,886 (GRCm39) |
D386G |
probably damaging |
Het |
Fgd2 |
A |
G |
17: 29,597,924 (GRCm39) |
T620A |
probably benign |
Het |
G930045G22Rik |
A |
T |
6: 50,823,535 (GRCm39) |
|
noncoding transcript |
Het |
Grpel1 |
G |
A |
5: 36,626,769 (GRCm39) |
|
probably null |
Het |
Map3k15 |
T |
A |
X: 158,905,568 (GRCm39) |
N1295K |
possibly damaging |
Het |
Mideas |
C |
T |
12: 84,203,245 (GRCm39) |
G886S |
probably benign |
Het |
Mrpl44 |
T |
A |
1: 79,757,366 (GRCm39) |
Y270* |
probably null |
Het |
Mtss1 |
A |
G |
15: 58,825,385 (GRCm39) |
S272P |
probably damaging |
Het |
Myo9b |
G |
A |
8: 71,786,981 (GRCm39) |
R721Q |
probably benign |
Het |
N4bp1 |
C |
T |
8: 87,587,184 (GRCm39) |
D585N |
probably damaging |
Het |
Napb |
T |
C |
2: 148,544,977 (GRCm39) |
|
probably null |
Het |
Nexmif |
A |
T |
X: 103,131,213 (GRCm39) |
Y235N |
probably damaging |
Het |
Niban1 |
A |
G |
1: 151,579,447 (GRCm39) |
|
probably null |
Het |
Nms |
T |
C |
1: 38,986,075 (GRCm39) |
|
probably benign |
Het |
Nsun2 |
A |
G |
13: 69,760,456 (GRCm39) |
N45D |
probably damaging |
Het |
Or4c116 |
T |
A |
2: 88,942,386 (GRCm39) |
I157L |
possibly damaging |
Het |
Pak6 |
C |
T |
2: 118,523,921 (GRCm39) |
Q359* |
probably null |
Het |
Pcdhb12 |
C |
T |
18: 37,569,127 (GRCm39) |
A91V |
probably benign |
Het |
Pde11a |
T |
A |
2: 76,121,510 (GRCm39) |
K357I |
probably damaging |
Het |
Piwil4 |
T |
C |
9: 14,637,259 (GRCm39) |
T352A |
probably damaging |
Het |
Plscr1l1 |
A |
C |
9: 92,234,673 (GRCm39) |
N60T |
probably damaging |
Het |
Sec31a |
T |
A |
5: 100,530,766 (GRCm39) |
D239V |
probably damaging |
Het |
Slc13a4 |
T |
C |
6: 35,245,845 (GRCm39) |
N600S |
possibly damaging |
Het |
Smc1b |
T |
A |
15: 85,001,464 (GRCm39) |
|
probably benign |
Het |
Spatc1 |
A |
T |
15: 76,152,495 (GRCm39) |
K42* |
probably null |
Het |
Sprr2j-ps |
A |
G |
3: 92,326,290 (GRCm39) |
H55R |
probably benign |
Het |
Srsf9 |
A |
G |
5: 115,465,387 (GRCm39) |
D7G |
probably benign |
Het |
Stt3a |
T |
C |
9: 36,670,618 (GRCm39) |
Y51C |
probably damaging |
Het |
Taf5 |
A |
G |
19: 47,067,224 (GRCm39) |
K519E |
probably damaging |
Het |
Taf7l |
A |
T |
X: 133,365,074 (GRCm39) |
I449K |
probably damaging |
Het |
Tnk1 |
C |
A |
11: 69,746,425 (GRCm39) |
D263Y |
probably damaging |
Het |
Ttc21b |
T |
A |
2: 66,054,488 (GRCm39) |
I714F |
probably benign |
Het |
Ttn |
C |
G |
2: 76,629,588 (GRCm39) |
W14284C |
probably damaging |
Het |
Txn1 |
T |
C |
4: 57,950,846 (GRCm39) |
D61G |
probably benign |
Het |
Ugcg |
T |
C |
4: 59,211,883 (GRCm39) |
V83A |
probably benign |
Het |
Ulk3 |
T |
C |
9: 57,501,077 (GRCm39) |
V348A |
probably benign |
Het |
Wdr93 |
A |
G |
7: 79,421,333 (GRCm39) |
T409A |
possibly damaging |
Het |
Wfikkn1 |
A |
G |
17: 26,097,692 (GRCm39) |
C211R |
probably damaging |
Het |
Zc3h12c |
C |
T |
9: 52,027,256 (GRCm39) |
R721H |
probably benign |
Het |
Zfp169 |
A |
G |
13: 48,660,377 (GRCm39) |
|
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 |
|
R3623:Zap70
|
UTSW |
1 |
36,818,216 (GRCm39) |
missense |
probably benign |
0.03 |
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'- CCTTCTCCTATGGCCAGAAG -3'
(R):5'- TGTTGGGAAGCCAAGCACAG -3'
Sequencing Primer
(F):5'- GCCAGAAGCCCTACAAGGTAG -3'
(R):5'- AAGAAGCCGGGTGTGACTCTG -3'
|
Posted On |
2015-02-19 |