Incidental Mutation 'IGL00763:Zap70'
ID |
14904 |
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 # |
IGL00763
|
Quality Score |
|
Status
|
|
Chromosome |
1 |
Chromosomal Location |
36800879-36821899 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 36818333 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Valine
at position 340
(D340V)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000027291
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027291]
|
AlphaFold |
P43404 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000027291
AA Change: D340V
PolyPhen 2
Score 0.805 (Sensitivity: 0.84; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000027291 Gene: ENSMUSG00000026117 AA Change: D340V
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: 29 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Bmp3 |
A |
C |
5: 99,020,238 (GRCm39) |
R220S |
possibly damaging |
Het |
Bms1 |
A |
G |
6: 118,395,363 (GRCm39) |
|
probably benign |
Het |
Ccdc138 |
T |
A |
10: 58,411,537 (GRCm39) |
F635Y |
probably damaging |
Het |
Ccdc81 |
T |
C |
7: 89,518,823 (GRCm39) |
|
probably benign |
Het |
Cntnap5a |
T |
C |
1: 116,045,407 (GRCm39) |
I341T |
possibly damaging |
Het |
Cog5 |
C |
T |
12: 31,715,531 (GRCm39) |
|
probably benign |
Het |
Dcaf4 |
G |
A |
12: 83,586,107 (GRCm39) |
R358H |
probably damaging |
Het |
Ddx10 |
A |
C |
9: 53,071,326 (GRCm39) |
|
probably benign |
Het |
Fgf15 |
T |
A |
7: 144,453,629 (GRCm39) |
F201I |
probably damaging |
Het |
Galp |
A |
G |
7: 6,211,499 (GRCm39) |
Y40C |
probably damaging |
Het |
Ints6 |
A |
G |
14: 62,938,314 (GRCm39) |
|
probably benign |
Het |
Iqcb1 |
A |
T |
16: 36,676,649 (GRCm39) |
|
probably benign |
Het |
Kif19a |
G |
A |
11: 114,657,994 (GRCm39) |
V18I |
probably benign |
Het |
Lypd8l |
T |
G |
11: 58,503,707 (GRCm39) |
|
probably benign |
Het |
Morc1 |
A |
C |
16: 48,432,689 (GRCm39) |
Q719P |
probably damaging |
Het |
Pla2g4a |
T |
C |
1: 149,727,076 (GRCm39) |
D568G |
probably damaging |
Het |
Plscr4 |
A |
G |
9: 92,366,998 (GRCm39) |
E204G |
probably null |
Het |
Rasgrf1 |
A |
G |
9: 89,853,073 (GRCm39) |
T403A |
probably benign |
Het |
Sec16b |
A |
G |
1: 157,356,827 (GRCm39) |
T12A |
probably benign |
Het |
Slc12a7 |
A |
T |
13: 73,942,201 (GRCm39) |
N359I |
possibly damaging |
Het |
Slc14a2 |
G |
T |
18: 78,235,453 (GRCm39) |
D241E |
probably damaging |
Het |
Slc23a2 |
G |
T |
2: 131,943,420 (GRCm39) |
A27E |
probably benign |
Het |
Slc38a8 |
T |
C |
8: 120,220,958 (GRCm39) |
I200M |
probably benign |
Het |
Thrap3 |
C |
T |
4: 126,059,371 (GRCm39) |
G892S |
probably benign |
Het |
Tmc6 |
A |
G |
11: 117,669,872 (GRCm39) |
L20P |
probably damaging |
Het |
Tnfsfm13 |
T |
C |
11: 69,575,536 (GRCm39) |
D256G |
probably benign |
Het |
Tonsl |
C |
T |
15: 76,518,068 (GRCm39) |
A605T |
probably damaging |
Het |
Usp28 |
A |
G |
9: 48,939,463 (GRCm39) |
T240A |
probably benign |
Het |
Zfp512b |
A |
T |
2: 181,231,944 (GRCm39) |
F100I |
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 |
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 |
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 |
2012-12-06 |