Incidental Mutation 'R6825:Zap70'
ID |
534079 |
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 |
044937-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.322)
|
Stock # |
R6825 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
1 |
Chromosomal Location |
36800879-36821899 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 36817471 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Cysteine
at position 238
(Y238C)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000027291
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027291]
|
AlphaFold |
P43404 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000027291
AA Change: Y238C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000027291 Gene: ENSMUSG00000026117 AA Change: Y238C
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 |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.4%
- 20x: 98.1%
|
Validation Efficiency |
100% (62/62) |
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: 60 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930447C04Rik |
A |
T |
12: 72,954,654 (GRCm39) |
S206T |
probably benign |
Het |
Aasdh |
A |
T |
5: 77,036,696 (GRCm39) |
|
probably null |
Het |
Adam10 |
G |
T |
9: 70,668,884 (GRCm39) |
C400F |
probably damaging |
Het |
Ankle2 |
A |
T |
5: 110,398,635 (GRCm39) |
R561S |
probably null |
Het |
Arhgef5 |
C |
T |
6: 43,251,895 (GRCm39) |
T882I |
probably damaging |
Het |
Arpc1a |
A |
T |
5: 145,032,936 (GRCm39) |
K82* |
probably null |
Het |
Card11 |
C |
A |
5: 140,863,837 (GRCm39) |
R967L |
probably benign |
Het |
Ccdc82 |
G |
T |
9: 13,251,601 (GRCm39) |
|
probably benign |
Het |
Cebpz |
T |
C |
17: 79,227,392 (GRCm39) |
D1026G |
probably damaging |
Het |
Cit |
A |
T |
5: 116,119,833 (GRCm39) |
Q1321L |
probably damaging |
Het |
Clcn2 |
C |
A |
16: 20,528,408 (GRCm39) |
|
probably benign |
Het |
Csf3 |
G |
C |
11: 98,593,273 (GRCm39) |
G130A |
probably damaging |
Het |
Cul2 |
T |
A |
18: 3,434,946 (GRCm39) |
S737T |
probably damaging |
Het |
Cyp1a2 |
G |
A |
9: 57,584,543 (GRCm39) |
H504Y |
probably benign |
Het |
Cyp3a44 |
G |
A |
5: 145,716,396 (GRCm39) |
P398L |
probably damaging |
Het |
Dnah8 |
T |
C |
17: 30,960,147 (GRCm39) |
I2206T |
probably damaging |
Het |
Efr3a |
G |
A |
15: 65,701,679 (GRCm39) |
V198I |
probably benign |
Het |
Epb41l5 |
A |
T |
1: 119,547,931 (GRCm39) |
D157E |
possibly damaging |
Het |
Ercc8 |
T |
C |
13: 108,295,343 (GRCm39) |
S6P |
probably damaging |
Het |
Faxc |
T |
C |
4: 21,931,672 (GRCm39) |
S37P |
probably benign |
Het |
Fbxl19 |
T |
A |
7: 127,349,187 (GRCm39) |
I119K |
probably damaging |
Het |
Frmd4b |
A |
G |
6: 97,302,437 (GRCm39) |
V195A |
possibly damaging |
Het |
Fut9 |
A |
T |
4: 25,619,925 (GRCm39) |
S296R |
probably benign |
Het |
Gas6 |
T |
C |
8: 13,533,674 (GRCm39) |
N112D |
probably benign |
Het |
H2-Q1 |
T |
C |
17: 35,540,028 (GRCm39) |
L99P |
probably damaging |
Het |
Helq |
A |
T |
5: 100,940,561 (GRCm39) |
I346N |
probably damaging |
Het |
Hepacam |
A |
G |
9: 37,278,976 (GRCm39) |
K2E |
possibly damaging |
Het |
Itgae |
T |
C |
11: 73,009,322 (GRCm39) |
M502T |
possibly damaging |
Het |
Kmt2a |
G |
A |
9: 44,729,704 (GRCm39) |
|
probably benign |
Het |
Lhx9 |
ACC |
ACCC |
1: 138,769,544 (GRCm39) |
|
probably null |
Het |
Macf1 |
A |
T |
4: 123,277,015 (GRCm39) |
|
probably null |
Het |
Mgat4a |
T |
A |
1: 37,503,515 (GRCm39) |
K220* |
probably null |
Het |
Or2t43 |
T |
C |
11: 58,457,476 (GRCm39) |
R232G |
possibly damaging |
Het |
Or4c104 |
T |
C |
2: 88,586,255 (GRCm39) |
I255V |
possibly damaging |
Het |
Or5b3 |
G |
A |
19: 13,388,514 (GRCm39) |
V194I |
probably benign |
Het |
Pex5 |
A |
T |
6: 124,391,340 (GRCm39) |
M18K |
probably damaging |
Het |
Phlda3 |
T |
C |
1: 135,694,562 (GRCm39) |
*126Q |
probably null |
Het |
Plxna1 |
G |
T |
6: 89,297,597 (GRCm39) |
D1862E |
probably benign |
Het |
Pold4 |
A |
T |
19: 4,282,164 (GRCm39) |
I7F |
possibly damaging |
Het |
Prkaa1 |
A |
T |
15: 5,173,432 (GRCm39) |
I19F |
possibly damaging |
Het |
Prl7d1 |
T |
G |
13: 27,894,125 (GRCm39) |
E148A |
probably benign |
Het |
Prr14l |
A |
T |
5: 32,985,892 (GRCm39) |
V1201E |
possibly damaging |
Het |
Rab3gap1 |
T |
C |
1: 127,858,158 (GRCm39) |
C510R |
probably damaging |
Het |
Rhbdf1 |
C |
T |
11: 32,159,970 (GRCm39) |
R802H |
probably damaging |
Het |
Rpl18a |
A |
C |
8: 71,348,836 (GRCm39) |
F47V |
probably damaging |
Het |
Sema5b |
C |
A |
16: 35,448,377 (GRCm39) |
|
probably null |
Het |
Sspo |
G |
A |
6: 48,442,459 (GRCm39) |
G1985R |
probably benign |
Het |
Tcaf2 |
C |
T |
6: 42,606,452 (GRCm39) |
A501T |
probably benign |
Het |
Tcerg1 |
A |
G |
18: 42,681,542 (GRCm39) |
D563G |
probably damaging |
Het |
Tdh |
G |
A |
14: 63,733,281 (GRCm39) |
T155M |
probably damaging |
Het |
Tenm2 |
T |
C |
11: 35,937,711 (GRCm39) |
N1654S |
probably benign |
Het |
Tlr5 |
A |
T |
1: 182,800,609 (GRCm39) |
|
probably benign |
Het |
Tns1 |
G |
T |
1: 74,041,482 (GRCm39) |
C136* |
probably null |
Het |
Tomm5 |
A |
T |
4: 45,106,443 (GRCm39) |
|
probably null |
Het |
Trio |
A |
T |
15: 27,889,394 (GRCm39) |
F512I |
probably damaging |
Het |
Ttll5 |
A |
T |
12: 85,930,102 (GRCm39) |
|
probably null |
Het |
Upp1 |
T |
A |
11: 9,081,707 (GRCm39) |
H81Q |
probably benign |
Het |
Usp42 |
A |
G |
5: 143,713,562 (GRCm39) |
S71P |
probably damaging |
Het |
Vamp5 |
G |
A |
6: 72,357,424 (GRCm39) |
|
probably benign |
Het |
Zfp398 |
A |
G |
6: 47,843,265 (GRCm39) |
D307G |
probably damaging |
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 |
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 |
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'- TATCTCATCAGCCAGGACAAGG -3'
(R):5'- TCCCAGTGTCACGTCTCAAC -3'
Sequencing Primer
(F):5'- ACAAGGCTGGCAAGTACTG -3'
(R):5'- TCAACGCTGAGGTGCCAC -3'
|
Posted On |
2018-09-12 |