Incidental Mutation 'IGL02597:Zap70'
| ID |
299915 |
| 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 # |
IGL02597
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
1 |
| Chromosomal Location |
36800879-36821899 bp(+) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
T to A
at 36811001 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Stop codon
at position 178
(Y178*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000027291
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027291]
[ENSMUST00000185871]
|
| AlphaFold |
P43404 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000027291
AA Change: Y178*
|
| SMART Domains |
Protein: ENSMUSP00000027291
Gene: ENSMUSG00000026117
AA Change: Y178*
| 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 |
probably benign
Transcript: ENSMUST00000185871
|
| SMART Domains |
Protein: ENSMUSP00000139990
Gene: ENSMUSG00000026117
| Domain | Start | End | E-Value | Type |
|---|
|
SH2
|
8 |
85 |
1.9e-16 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000186624
|
| 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: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abtb3 |
A |
G |
10: 85,469,665 (GRCm39) |
Y862C |
probably damaging |
Het |
| Anapc1 |
T |
C |
2: 128,465,851 (GRCm39) |
K1648E |
probably benign |
Het |
| Arhgef10 |
C |
T |
8: 14,980,198 (GRCm39) |
A146V |
probably benign |
Het |
| Atp7a |
A |
T |
X: 105,113,494 (GRCm39) |
N34I |
probably benign |
Het |
| Casq2 |
A |
G |
3: 102,033,953 (GRCm39) |
Y232C |
probably damaging |
Het |
| Cdan1 |
A |
T |
2: 120,555,720 (GRCm39) |
N738K |
probably benign |
Het |
| Cdh24 |
A |
G |
14: 54,870,972 (GRCm39) |
V132A |
possibly damaging |
Het |
| Chd5 |
C |
A |
4: 152,456,169 (GRCm39) |
T946K |
probably damaging |
Het |
| Clip4 |
T |
C |
17: 72,156,965 (GRCm39) |
|
probably benign |
Het |
| Copz2 |
T |
C |
11: 96,748,425 (GRCm39) |
|
probably benign |
Het |
| Cyp2c39 |
C |
A |
19: 39,549,331 (GRCm39) |
S283* |
probably null |
Het |
| Dlec1 |
A |
T |
9: 118,963,604 (GRCm39) |
S973C |
probably damaging |
Het |
| Far1 |
A |
T |
7: 113,150,463 (GRCm39) |
T264S |
probably benign |
Het |
| Iqgap1 |
A |
G |
7: 80,373,633 (GRCm39) |
L1452P |
probably damaging |
Het |
| Irx5 |
A |
C |
8: 93,087,400 (GRCm39) |
N444T |
possibly damaging |
Het |
| Kcnip2 |
A |
G |
19: 45,784,712 (GRCm39) |
|
probably benign |
Het |
| Kmt2d |
A |
T |
15: 98,761,712 (GRCm39) |
M546K |
unknown |
Het |
| Lrrc37a |
A |
G |
11: 103,395,113 (GRCm39) |
L104S |
probably benign |
Het |
| Med12 |
T |
C |
X: 100,328,538 (GRCm39) |
L1143P |
probably damaging |
Het |
| Mtcl1 |
T |
C |
17: 66,645,016 (GRCm39) |
H1477R |
probably benign |
Het |
| Nkap |
T |
A |
X: 36,411,437 (GRCm39) |
|
probably benign |
Het |
| Ntmt2 |
A |
G |
1: 163,544,656 (GRCm39) |
V109A |
probably benign |
Het |
| Or10a2 |
A |
T |
7: 106,673,646 (GRCm39) |
T204S |
possibly damaging |
Het |
| Osbpl6 |
C |
T |
2: 76,386,318 (GRCm39) |
Q214* |
probably null |
Het |
| Pex1 |
C |
T |
5: 3,685,865 (GRCm39) |
T1202I |
possibly damaging |
Het |
| Prrc2b |
A |
T |
2: 32,109,625 (GRCm39) |
N1066I |
probably damaging |
Het |
| Psmg1 |
T |
C |
16: 95,788,497 (GRCm39) |
E152G |
probably damaging |
Het |
| Scn10a |
A |
G |
9: 119,439,189 (GRCm39) |
I1560T |
probably damaging |
Het |
| Shd |
A |
G |
17: 56,280,987 (GRCm39) |
E221G |
possibly damaging |
Het |
| Slc39a4 |
T |
C |
15: 76,497,824 (GRCm39) |
T478A |
probably benign |
Het |
| Snx2 |
A |
G |
18: 53,343,444 (GRCm39) |
I281V |
probably benign |
Het |
| Srrm1 |
G |
A |
4: 135,052,415 (GRCm39) |
P658L |
unknown |
Het |
| Tmem161a |
A |
T |
8: 70,634,693 (GRCm39) |
R297S |
probably damaging |
Het |
| Tns1 |
A |
G |
1: 74,025,032 (GRCm39) |
|
probably null |
Het |
| Ugt2b36 |
G |
A |
5: 87,228,783 (GRCm39) |
T420M |
probably damaging |
Het |
| Wdfy4 |
G |
A |
14: 32,812,818 (GRCm39) |
R1652* |
probably null |
Het |
| Zdhhc3 |
A |
G |
9: 122,929,456 (GRCm39) |
F60L |
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 |
|
|
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