Incidental Mutation 'IGL02164:Zap70'
| ID |
282602 |
| 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 # |
IGL02164
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
1 |
| Chromosomal Location |
36800879-36821899 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 36810267 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Histidine
at position 126
(Y126H)
|
| 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: Y126H
PolyPhen 2
Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000027291
Gene: ENSMUSG00000026117
AA Change: Y126H
| 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: 76 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 5730480H06Rik |
T |
A |
5: 48,537,524 (GRCm39) |
V187E |
probably benign |
Het |
| Abcc12 |
T |
A |
8: 87,254,033 (GRCm39) |
D917V |
probably damaging |
Het |
| Abhd15 |
A |
T |
11: 77,406,840 (GRCm39) |
E272D |
probably benign |
Het |
| Adat3 |
T |
A |
10: 80,442,461 (GRCm39) |
S100T |
probably benign |
Het |
| Adgrg6 |
T |
C |
10: 14,399,299 (GRCm39) |
|
probably benign |
Het |
| Alpl |
C |
T |
4: 137,481,290 (GRCm39) |
V121M |
probably damaging |
Het |
| Ano1 |
A |
T |
7: 144,190,918 (GRCm39) |
Y388N |
possibly damaging |
Het |
| Arrdc4 |
C |
T |
7: 68,389,285 (GRCm39) |
|
probably benign |
Het |
| Asxl2 |
A |
G |
12: 3,552,079 (GRCm39) |
M1274V |
probably benign |
Het |
| Bmt2 |
G |
T |
6: 13,628,878 (GRCm39) |
N268K |
possibly damaging |
Het |
| Bpifb2 |
C |
A |
2: 153,725,482 (GRCm39) |
L176M |
probably damaging |
Het |
| Brd8 |
C |
T |
18: 34,735,780 (GRCm39) |
S899N |
probably damaging |
Het |
| Cd14 |
T |
C |
18: 36,858,838 (GRCm39) |
R206G |
possibly damaging |
Het |
| Cfap65 |
G |
T |
1: 74,967,304 (GRCm39) |
T215K |
possibly damaging |
Het |
| Chd9 |
T |
C |
8: 91,659,849 (GRCm39) |
S270P |
possibly damaging |
Het |
| Cidea |
C |
T |
18: 67,499,581 (GRCm39) |
S156L |
probably damaging |
Het |
| Col5a3 |
A |
G |
9: 20,703,939 (GRCm39) |
|
probably null |
Het |
| Cspg5 |
T |
C |
9: 110,080,104 (GRCm39) |
V424A |
probably damaging |
Het |
| Ctc1 |
A |
G |
11: 68,916,922 (GRCm39) |
H272R |
probably damaging |
Het |
| D5Ertd579e |
A |
T |
5: 36,772,303 (GRCm39) |
S697R |
probably damaging |
Het |
| Dennd3 |
T |
C |
15: 73,416,297 (GRCm39) |
S516P |
probably benign |
Het |
| Dipk2b |
T |
A |
X: 18,285,192 (GRCm39) |
R421* |
probably null |
Het |
| Dlgap4 |
G |
A |
2: 156,553,059 (GRCm39) |
R509H |
probably damaging |
Het |
| Dus3l |
T |
C |
17: 57,074,943 (GRCm39) |
|
probably benign |
Het |
| Dync1h1 |
G |
T |
12: 110,628,993 (GRCm39) |
W4183C |
probably damaging |
Het |
| Eif2s3x |
A |
T |
X: 93,248,678 (GRCm39) |
M152K |
possibly damaging |
Het |
| Epb41l1 |
C |
T |
2: 156,336,869 (GRCm39) |
|
probably benign |
Het |
| Ephx2 |
A |
G |
14: 66,341,169 (GRCm39) |
|
probably benign |
Het |
| Fabp12 |
T |
A |
3: 10,311,075 (GRCm39) |
Y129F |
probably damaging |
Het |
| Fat3 |
A |
G |
9: 15,942,720 (GRCm39) |
|
probably benign |
Het |
| Fat4 |
T |
C |
3: 39,050,354 (GRCm39) |
|
probably null |
Het |
| Gnb1 |
T |
A |
4: 155,641,631 (GRCm39) |
|
probably null |
Het |
| Gpr107 |
C |
A |
2: 31,068,298 (GRCm39) |
Y253* |
probably null |
Het |
| Grb10 |
C |
T |
11: 11,893,962 (GRCm39) |
E320K |
probably damaging |
Het |
| Gucy2g |
G |
T |
19: 55,226,455 (GRCm39) |
H154N |
probably benign |
Het |
| H2bl1 |
T |
C |
13: 99,120,715 (GRCm39) |
K104E |
probably damaging |
Het |
| Hemk1 |
T |
A |
9: 107,208,735 (GRCm39) |
H154L |
probably benign |
Het |
| Hk2 |
A |
T |
6: 82,720,920 (GRCm39) |
|
probably null |
Het |
| Htr5a |
A |
G |
5: 28,047,463 (GRCm39) |
N6S |
probably damaging |
Het |
| Htra3 |
T |
C |
5: 35,810,410 (GRCm39) |
D424G |
probably benign |
Het |
| Ift52 |
A |
G |
2: 162,867,384 (GRCm39) |
|
probably null |
Het |
| Igdcc4 |
A |
G |
9: 65,032,064 (GRCm39) |
|
probably benign |
Het |
| Itpr1 |
A |
G |
6: 108,366,444 (GRCm39) |
K124E |
probably benign |
Het |
| Kcnc2 |
T |
A |
10: 112,291,590 (GRCm39) |
N259K |
possibly damaging |
Het |
| Kics2 |
A |
G |
10: 121,586,675 (GRCm39) |
Y194C |
probably damaging |
Het |
| Lmod2 |
A |
T |
6: 24,603,909 (GRCm39) |
I295F |
possibly damaging |
Het |
| Lrp1 |
T |
C |
10: 127,399,536 (GRCm39) |
E2324G |
probably benign |
Het |
| Lss |
T |
C |
10: 76,372,094 (GRCm39) |
S150P |
probably damaging |
Het |
| Macf1 |
T |
C |
4: 123,374,065 (GRCm39) |
N1515S |
probably benign |
Het |
| Mapk11 |
T |
C |
15: 89,029,651 (GRCm39) |
|
probably null |
Het |
| Mc3r |
T |
A |
2: 172,091,314 (GRCm39) |
F179I |
probably damaging |
Het |
| Mtmr9 |
T |
A |
14: 63,767,737 (GRCm39) |
N291Y |
probably damaging |
Het |
| Myo1h |
T |
C |
5: 114,472,157 (GRCm39) |
F396L |
probably damaging |
Het |
| Nek2 |
A |
G |
1: 191,559,416 (GRCm39) |
K307R |
probably benign |
Het |
| Or12d2 |
C |
A |
17: 37,624,578 (GRCm39) |
M232I |
probably benign |
Het |
| Osmr |
G |
A |
15: 6,871,529 (GRCm39) |
T296I |
probably damaging |
Het |
| Pcdhb11 |
T |
G |
18: 37,556,412 (GRCm39) |
S581A |
probably benign |
Het |
| Pfkp |
C |
T |
13: 6,647,951 (GRCm39) |
V542M |
probably damaging |
Het |
| Pmpca |
C |
T |
2: 26,285,581 (GRCm39) |
S519L |
probably benign |
Het |
| Ptgds |
A |
T |
2: 25,359,124 (GRCm39) |
Y44N |
probably damaging |
Het |
| Raly |
T |
A |
2: 154,701,849 (GRCm39) |
Y116* |
probably null |
Het |
| Rock2 |
A |
G |
12: 17,015,530 (GRCm39) |
D809G |
probably damaging |
Het |
| Sgsm2 |
T |
G |
11: 74,756,242 (GRCm39) |
N369T |
possibly damaging |
Het |
| Slc6a15 |
A |
G |
10: 103,254,083 (GRCm39) |
D673G |
probably benign |
Het |
| Spire2 |
A |
T |
8: 124,059,703 (GRCm39) |
D67V |
probably damaging |
Het |
| St7l |
T |
C |
3: 104,829,597 (GRCm39) |
|
probably null |
Het |
| Stau2 |
A |
G |
1: 16,416,052 (GRCm39) |
L469P |
probably damaging |
Het |
| Tefm |
A |
G |
11: 80,030,915 (GRCm39) |
L107S |
probably damaging |
Het |
| Ticam1 |
A |
T |
17: 56,577,019 (GRCm39) |
V692D |
unknown |
Het |
| Tipin |
T |
A |
9: 64,201,631 (GRCm39) |
D143E |
probably damaging |
Het |
| Tmem132c |
C |
A |
5: 127,613,441 (GRCm39) |
T448K |
probably damaging |
Het |
| Trav8-1 |
A |
T |
14: 53,707,213 (GRCm39) |
M1L |
unknown |
Het |
| Ttn |
C |
A |
2: 76,569,141 (GRCm39) |
V27251F |
probably damaging |
Het |
| Uvrag |
A |
T |
7: 98,653,896 (GRCm39) |
C31* |
probably null |
Het |
| Zfp644 |
A |
G |
5: 106,785,965 (GRCm39) |
V194A |
probably benign |
Het |
| Zfp663 |
C |
T |
2: 165,200,968 (GRCm39) |
W22* |
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 |
|
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 |
2015-04-16 |
Incidental Mutation