Incidental Mutation 'IGL01635:Zap70'
| ID |
92962 |
| 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 # |
IGL01635
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
1 |
| Chromosomal Location |
36800879-36821899 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 36810238 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 116
(D116G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000027291
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027291]
[ENSMUST00000185871]
|
| AlphaFold |
P43404 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000027291
AA Change: D116G
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000027291
Gene: ENSMUSG00000026117
AA Change: D116G
| 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: 29 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abat |
A |
G |
16: 8,431,910 (GRCm39) |
I396V |
probably benign |
Het |
| Bag2 |
T |
A |
1: 33,786,013 (GRCm39) |
N103I |
possibly damaging |
Het |
| Cfap95 |
T |
C |
19: 23,536,379 (GRCm39) |
Y176C |
probably damaging |
Het |
| Chd1 |
T |
C |
17: 17,598,858 (GRCm39) |
S107P |
probably damaging |
Het |
| Chd3 |
A |
T |
11: 69,252,076 (GRCm39) |
|
probably benign |
Het |
| Cytip |
T |
C |
2: 58,038,243 (GRCm39) |
E106G |
probably damaging |
Het |
| Dcp1b |
T |
A |
6: 119,183,498 (GRCm39) |
I195N |
probably damaging |
Het |
| Ddhd1 |
C |
A |
14: 45,867,037 (GRCm39) |
V322F |
probably null |
Het |
| Esrrg |
A |
T |
1: 187,930,797 (GRCm39) |
D296V |
probably damaging |
Het |
| F5 |
A |
G |
1: 164,035,427 (GRCm39) |
K1867R |
probably benign |
Het |
| Gm10717 |
C |
A |
9: 3,025,511 (GRCm39) |
A32D |
probably damaging |
Het |
| Gm10717 |
C |
A |
9: 3,025,506 (GRCm39) |
F30L |
possibly damaging |
Het |
| Gstt1 |
G |
T |
10: 75,629,951 (GRCm39) |
T54K |
probably damaging |
Het |
| Ighmbp2 |
C |
T |
19: 3,317,265 (GRCm39) |
V536I |
possibly damaging |
Het |
| Mphosph8 |
A |
T |
14: 56,910,003 (GRCm39) |
R119W |
probably damaging |
Het |
| Negr1 |
A |
G |
3: 156,267,929 (GRCm39) |
D33G |
probably benign |
Het |
| Or2l13b |
A |
G |
16: 19,348,845 (GRCm39) |
V275A |
probably benign |
Het |
| Or7d10 |
A |
T |
9: 19,831,780 (GRCm39) |
I92L |
probably damaging |
Het |
| Plbd2 |
T |
C |
5: 120,637,114 (GRCm39) |
D116G |
probably damaging |
Het |
| Pold1 |
A |
T |
7: 44,185,401 (GRCm39) |
V733E |
probably damaging |
Het |
| Prorsd1 |
T |
A |
11: 29,463,467 (GRCm39) |
K98N |
probably benign |
Het |
| Rasal2 |
G |
T |
1: 156,991,394 (GRCm39) |
L611I |
probably damaging |
Het |
| Rffl |
G |
A |
11: 82,703,378 (GRCm39) |
R147C |
probably benign |
Het |
| Rpl27rt |
A |
T |
18: 34,870,795 (GRCm39) |
M110L |
probably benign |
Het |
| Sdad1 |
A |
G |
5: 92,445,019 (GRCm39) |
M315T |
probably damaging |
Het |
| Shprh |
T |
A |
10: 11,045,763 (GRCm39) |
Y861* |
probably null |
Het |
| Six4 |
G |
A |
12: 73,155,971 (GRCm39) |
A324V |
probably benign |
Het |
| Stab2 |
T |
C |
10: 86,816,992 (GRCm39) |
D135G |
probably benign |
Het |
| Tada3 |
T |
C |
6: 113,352,973 (GRCm39) |
H12R |
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 |
|
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 |
2013-12-09 |
Incidental Mutation