Incidental Mutation 'R5792:Zap70'
ID |
446999 |
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? |
Possibly non essential
(E-score: 0.322)
|
Stock # |
R5792 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
1 |
Chromosomal Location |
36800879-36821899 bp(+) (GRCm39) |
Type of Mutation |
intron |
DNA Base Change (assembly) |
A to G
at 36818090 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000027291
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027291]
|
AlphaFold |
P43404 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000027291
|
SMART Domains |
Protein: ENSMUSP00000027291 Gene: ENSMUSG00000026117
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
|
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.9%
|
Validation Efficiency |
95% (56/59) |
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: 53 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930433I11Rik |
A |
T |
7: 40,642,945 (GRCm39) |
I296F |
possibly damaging |
Het |
Adamts19 |
C |
T |
18: 58,970,584 (GRCm39) |
T56M |
possibly damaging |
Het |
Axdnd1 |
T |
G |
1: 156,169,459 (GRCm39) |
E802D |
probably damaging |
Het |
Birc6 |
T |
C |
17: 74,938,048 (GRCm39) |
V2630A |
probably benign |
Het |
Capn5 |
A |
T |
7: 97,780,402 (GRCm39) |
F323I |
probably benign |
Het |
Ccn1 |
T |
C |
3: 145,354,413 (GRCm39) |
D166G |
probably benign |
Het |
Cdc25b |
A |
G |
2: 131,033,679 (GRCm39) |
E206G |
probably damaging |
Het |
Cmah |
T |
G |
13: 24,640,898 (GRCm39) |
N382K |
probably benign |
Het |
Col11a1 |
A |
T |
3: 113,925,242 (GRCm39) |
D25V |
probably damaging |
Het |
Cyp2d41-ps |
G |
T |
15: 82,663,421 (GRCm39) |
|
noncoding transcript |
Het |
Cyp3a59 |
A |
G |
5: 146,036,661 (GRCm39) |
K288E |
possibly damaging |
Het |
Dclre1a |
A |
C |
19: 56,518,022 (GRCm39) |
I1019S |
probably damaging |
Het |
Fat2 |
G |
T |
11: 55,153,151 (GRCm39) |
A3687D |
possibly damaging |
Het |
Flg2 |
T |
A |
3: 93,110,804 (GRCm39) |
V944E |
unknown |
Het |
Galntl5 |
T |
C |
5: 25,403,461 (GRCm39) |
V177A |
possibly damaging |
Het |
Gm12695 |
T |
C |
4: 96,616,520 (GRCm39) |
T438A |
probably benign |
Het |
Gm14295 |
A |
T |
2: 176,502,807 (GRCm39) |
N766Y |
probably benign |
Het |
Gm15433 |
T |
A |
1: 84,941,833 (GRCm39) |
|
noncoding transcript |
Het |
Gm2431 |
C |
T |
7: 141,812,069 (GRCm39) |
G8E |
unknown |
Het |
Gm5435 |
T |
A |
12: 82,542,200 (GRCm39) |
|
noncoding transcript |
Het |
Gprc5c |
G |
T |
11: 114,755,093 (GRCm39) |
V257L |
possibly damaging |
Het |
Grip1 |
T |
C |
10: 119,821,385 (GRCm39) |
I350T |
probably benign |
Het |
Guf1 |
T |
A |
5: 69,717,829 (GRCm39) |
F196I |
probably damaging |
Het |
Kcng4 |
G |
T |
8: 120,353,018 (GRCm39) |
D297E |
probably damaging |
Het |
Khdrbs2 |
G |
A |
1: 32,511,773 (GRCm39) |
R246Q |
probably damaging |
Het |
Layn |
T |
C |
9: 50,979,461 (GRCm39) |
E148G |
probably damaging |
Het |
Lrig3 |
T |
A |
10: 125,845,788 (GRCm39) |
V739E |
probably damaging |
Het |
Lyg1 |
A |
G |
1: 37,986,348 (GRCm39) |
W129R |
probably benign |
Het |
Nup210l |
C |
T |
3: 90,107,164 (GRCm39) |
T1567I |
probably damaging |
Het |
Nus1 |
T |
A |
10: 52,305,352 (GRCm39) |
L12* |
probably null |
Het |
Odad2 |
T |
C |
18: 7,217,965 (GRCm39) |
N583S |
probably benign |
Het |
Or1n2 |
A |
G |
2: 36,797,113 (GRCm39) |
I52V |
probably benign |
Het |
Or6a2 |
A |
T |
7: 106,600,650 (GRCm39) |
V139D |
possibly damaging |
Het |
Otop1 |
A |
G |
5: 38,455,260 (GRCm39) |
N218S |
probably benign |
Het |
Pcif1 |
T |
A |
2: 164,727,299 (GRCm39) |
N90K |
probably damaging |
Het |
Phf2 |
T |
C |
13: 48,973,518 (GRCm39) |
|
probably null |
Het |
Piezo2 |
T |
A |
18: 63,279,927 (GRCm39) |
I215F |
probably damaging |
Het |
Pitpnm2 |
G |
T |
5: 124,268,384 (GRCm39) |
C553* |
probably null |
Het |
Prdm1 |
A |
G |
10: 44,326,224 (GRCm39) |
V115A |
probably damaging |
Het |
Prkdc |
A |
G |
16: 15,634,616 (GRCm39) |
D3587G |
probably damaging |
Het |
Sez6l |
A |
T |
5: 112,569,890 (GRCm39) |
Y883* |
probably null |
Het |
Sh3rf2 |
A |
C |
18: 42,244,203 (GRCm39) |
H223P |
probably damaging |
Het |
Slco1a5 |
C |
T |
6: 142,187,839 (GRCm39) |
C500Y |
probably damaging |
Het |
Slf1 |
T |
A |
13: 77,214,856 (GRCm39) |
H610L |
probably benign |
Het |
Syn3 |
T |
C |
10: 86,130,492 (GRCm39) |
*244W |
probably null |
Het |
Sytl2 |
A |
T |
7: 90,024,897 (GRCm39) |
D295V |
probably damaging |
Het |
Tnfrsf1a |
T |
A |
6: 125,335,040 (GRCm39) |
C44S |
probably damaging |
Het |
Ttc6 |
T |
G |
12: 57,719,990 (GRCm39) |
L854V |
possibly damaging |
Het |
Ttn |
T |
C |
2: 76,596,602 (GRCm39) |
I18358V |
probably benign |
Het |
Vmn2r108 |
A |
G |
17: 20,683,398 (GRCm39) |
V602A |
probably damaging |
Het |
Zfhx2 |
T |
C |
14: 55,304,303 (GRCm39) |
E1227G |
possibly damaging |
Het |
Znhit3 |
G |
A |
11: 84,806,910 (GRCm39) |
|
probably null |
Het |
Zpbp2 |
A |
G |
11: 98,442,236 (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 |
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 |
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'- CTTTAGCCTCAGAGACGAGTG -3'
(R):5'- GGGACTCTCGTACACACTTG -3'
Sequencing Primer
(F):5'- AGTGGACACCCTGAACTCG -3'
(R):5'- ACACTTGTGTCCATGGGC -3'
|
Posted On |
2016-12-15 |