Incidental Mutation 'IGL02502:Zap70'
| ID |
296126 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| 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 # |
IGL02502
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
1 |
| Chromosomal Location |
36800879-36821899 bp(+) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
A to G
at 36817887 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 |
|
| Validation Efficiency |
|
| 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: 59 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acoxl |
A |
G |
2: 127,917,804 (GRCm39) |
N216S |
probably damaging |
Het |
| Akap12 |
A |
G |
10: 4,303,163 (GRCm39) |
D96G |
probably damaging |
Het |
| Akna |
A |
G |
4: 63,286,440 (GRCm39) |
V1353A |
probably benign |
Het |
| Ambra1 |
A |
G |
2: 91,730,877 (GRCm39) |
D914G |
probably damaging |
Het |
| Ap1s3 |
A |
G |
1: 79,601,439 (GRCm39) |
V84A |
possibly damaging |
Het |
| Arhgef6 |
T |
C |
X: 56,325,623 (GRCm39) |
E282G |
probably damaging |
Het |
| C2cd2 |
G |
T |
16: 97,677,590 (GRCm39) |
S378Y |
possibly damaging |
Het |
| Cd101 |
C |
A |
3: 100,919,141 (GRCm39) |
A654S |
probably damaging |
Het |
| Cep295 |
A |
C |
9: 15,262,209 (GRCm39) |
|
probably benign |
Het |
| Csn1s1 |
A |
G |
5: 87,828,784 (GRCm39) |
I283V |
probably benign |
Het |
| Cst3 |
A |
G |
2: 148,717,065 (GRCm39) |
|
probably benign |
Het |
| Cyp2b9 |
T |
C |
7: 25,887,239 (GRCm39) |
|
probably null |
Het |
| Dffb |
A |
G |
4: 154,050,073 (GRCm39) |
|
probably benign |
Het |
| Dnah10 |
A |
G |
5: 124,898,351 (GRCm39) |
Y3711C |
probably damaging |
Het |
| Eif4g2 |
T |
C |
7: 110,680,748 (GRCm39) |
S3G |
probably damaging |
Het |
| Erbb3 |
C |
T |
10: 128,406,153 (GRCm39) |
R1088H |
probably benign |
Het |
| Evpl |
T |
C |
11: 116,113,544 (GRCm39) |
D1382G |
probably damaging |
Het |
| Fam168a |
A |
G |
7: 100,473,417 (GRCm39) |
D102G |
probably damaging |
Het |
| Fbxo7 |
A |
G |
10: 85,869,161 (GRCm39) |
Y284C |
probably damaging |
Het |
| G6pd2 |
T |
C |
5: 61,966,971 (GRCm39) |
Y249H |
probably damaging |
Het |
| Gm1123 |
A |
T |
9: 98,891,443 (GRCm39) |
Y335* |
probably null |
Het |
| Gm5624 |
C |
T |
14: 44,797,296 (GRCm39) |
|
probably null |
Het |
| Hectd1 |
A |
T |
12: 51,844,635 (GRCm39) |
M536K |
possibly damaging |
Het |
| Ikbkg |
T |
A |
X: 73,487,433 (GRCm39) |
V334E |
probably benign |
Het |
| Ipo7 |
T |
C |
7: 109,650,257 (GRCm39) |
L769P |
probably damaging |
Het |
| Jmjd1c |
A |
T |
10: 67,061,640 (GRCm39) |
K1331I |
probably benign |
Het |
| Krt32 |
T |
C |
11: 99,978,749 (GRCm39) |
K102E |
probably damaging |
Het |
| Lrrc34 |
A |
T |
3: 30,699,394 (GRCm39) |
N20K |
probably benign |
Het |
| Lrrc47 |
A |
G |
4: 154,100,471 (GRCm39) |
E349G |
probably benign |
Het |
| Mdn1 |
A |
G |
4: 32,670,579 (GRCm39) |
I415V |
possibly damaging |
Het |
| Myh10 |
A |
G |
11: 68,705,198 (GRCm39) |
|
probably null |
Het |
| Nbeal2 |
A |
G |
9: 110,462,836 (GRCm39) |
S1376P |
probably damaging |
Het |
| Nfx1 |
T |
C |
4: 40,976,345 (GRCm39) |
|
probably benign |
Het |
| Nherf4 |
G |
A |
9: 44,160,948 (GRCm39) |
A206V |
probably benign |
Het |
| Notch3 |
A |
T |
17: 32,377,252 (GRCm39) |
C246* |
probably null |
Het |
| Nr3c2 |
A |
G |
8: 77,969,143 (GRCm39) |
Y976C |
probably damaging |
Het |
| Or51b17 |
A |
G |
7: 103,542,696 (GRCm39) |
V82A |
probably damaging |
Het |
| Or52n4b |
T |
A |
7: 108,143,846 (GRCm39) |
M36K |
probably damaging |
Het |
| Or5b122 |
A |
G |
19: 13,563,112 (GRCm39) |
Y105C |
probably damaging |
Het |
| P2rx7 |
C |
T |
5: 122,819,050 (GRCm39) |
R491C |
possibly damaging |
Het |
| Phex |
T |
A |
X: 155,966,823 (GRCm39) |
Y625F |
possibly damaging |
Het |
| Pkhd1 |
T |
C |
1: 20,462,389 (GRCm39) |
D2055G |
probably damaging |
Het |
| Pmm2 |
T |
C |
16: 8,463,227 (GRCm39) |
|
probably benign |
Het |
| Prdm15 |
T |
C |
16: 97,640,539 (GRCm39) |
D16G |
probably damaging |
Het |
| Prune2 |
T |
A |
19: 17,101,245 (GRCm39) |
C2250S |
probably benign |
Het |
| Rasgef1a |
T |
A |
6: 118,057,443 (GRCm39) |
F48Y |
probably benign |
Het |
| Rhoq |
T |
C |
17: 87,271,077 (GRCm39) |
V15A |
probably damaging |
Het |
| Rnf216 |
G |
A |
5: 143,054,622 (GRCm39) |
A585V |
probably damaging |
Het |
| Septin9 |
T |
A |
11: 117,181,488 (GRCm39) |
I96N |
probably damaging |
Het |
| Shprh |
T |
A |
10: 11,070,101 (GRCm39) |
D1492E |
possibly damaging |
Het |
| Slc22a26 |
A |
T |
19: 7,768,125 (GRCm39) |
|
probably null |
Het |
| Tek |
T |
G |
4: 94,741,818 (GRCm39) |
|
probably null |
Het |
| Tenm3 |
T |
C |
8: 48,741,051 (GRCm39) |
E782G |
probably damaging |
Het |
| Trmt5 |
A |
G |
12: 73,328,001 (GRCm39) |
C401R |
probably benign |
Het |
| Tspear |
T |
G |
10: 77,688,792 (GRCm39) |
|
probably benign |
Het |
| Ubr5 |
G |
A |
15: 38,030,933 (GRCm39) |
T414I |
probably benign |
Het |
| Vcl |
A |
T |
14: 21,069,453 (GRCm39) |
T710S |
probably damaging |
Het |
| Vmn2r25 |
A |
T |
6: 123,816,392 (GRCm39) |
D396E |
probably damaging |
Het |
| Wtip |
A |
G |
7: 33,818,094 (GRCm39) |
|
probably null |
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 |
|
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 |
|
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 |
|
|
| Posted On |
2015-04-16 |
Incidental Mutation