Incidental Mutation 'R7704:Zap70'
| ID |
594164 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zap70
|
| Ensembl Gene |
ENSMUSG00000026117 |
| Gene Name |
zeta-chain (TCR) associated protein kinase |
| Synonyms |
ZAP-70, TZK, Srk |
| MMRRC Submission |
045765-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.322)
|
| Stock # |
R7704 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
1 |
| Chromosomal Location |
36800879-36821899 bp(+) (GRCm39) |
| Type of Mutation |
critical splice donor site (2 bp from exon) |
| DNA Base Change (assembly) |
T to C
at 36818395 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 null
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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 98.9%
|
| 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: 49 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc8 |
C |
A |
7: 45,756,068 (GRCm39) |
W1458L |
probably damaging |
Het |
| Actn4 |
A |
T |
7: 28,596,467 (GRCm39) |
I676N |
possibly damaging |
Het |
| Adamts10 |
T |
C |
17: 33,770,126 (GRCm39) |
C1002R |
probably damaging |
Het |
| Agbl2 |
A |
C |
2: 90,619,349 (GRCm39) |
N58T |
probably benign |
Het |
| Akap12 |
A |
T |
10: 4,306,082 (GRCm39) |
D1069V |
probably damaging |
Het |
| Bltp2 |
C |
A |
11: 78,159,570 (GRCm39) |
Q540K |
probably benign |
Het |
| Cfap65 |
T |
A |
1: 74,967,527 (GRCm39) |
T184S |
probably benign |
Het |
| Chd1 |
T |
C |
17: 15,987,737 (GRCm39) |
V1517A |
probably benign |
Het |
| CN725425 |
T |
A |
15: 91,119,993 (GRCm39) |
V38D |
possibly damaging |
Het |
| Copg1 |
T |
A |
6: 87,884,940 (GRCm39) |
L712Q |
probably benign |
Het |
| Ctsf |
T |
G |
19: 4,906,567 (GRCm39) |
F165V |
probably damaging |
Het |
| Ddx21 |
T |
C |
10: 62,429,865 (GRCm39) |
Y293C |
probably damaging |
Het |
| Ddx46 |
C |
T |
13: 55,821,832 (GRCm39) |
P839S |
probably benign |
Het |
| Dennd5a |
A |
G |
7: 109,496,174 (GRCm39) |
V1164A |
possibly damaging |
Het |
| Dync1h1 |
T |
A |
12: 110,632,200 (GRCm39) |
I4490N |
probably damaging |
Het |
| Ecm1 |
A |
C |
3: 95,643,843 (GRCm39) |
Y236D |
probably damaging |
Het |
| Fat2 |
T |
C |
11: 55,175,173 (GRCm39) |
T1847A |
probably benign |
Het |
| Galc |
T |
A |
12: 98,175,102 (GRCm39) |
I567L |
probably benign |
Het |
| Gask1a |
C |
T |
9: 121,780,151 (GRCm39) |
|
probably benign |
Het |
| H6pd |
T |
C |
4: 150,067,360 (GRCm39) |
D350G |
probably benign |
Het |
| Ifi44 |
A |
G |
3: 151,438,061 (GRCm39) |
Y409H |
probably benign |
Het |
| Kdm5a |
T |
G |
6: 120,404,025 (GRCm39) |
F1210C |
probably damaging |
Het |
| Kdm5b |
C |
T |
1: 134,515,669 (GRCm39) |
R98C |
probably damaging |
Het |
| Lipt1 |
T |
A |
1: 37,915,043 (GRCm39) |
C366* |
probably null |
Het |
| Med13 |
G |
A |
11: 86,236,744 (GRCm39) |
R138* |
probably null |
Het |
| Mterf1a |
A |
G |
5: 3,941,845 (GRCm39) |
C8R |
probably benign |
Het |
| Ncapg2 |
A |
T |
12: 116,382,897 (GRCm39) |
I243F |
probably damaging |
Het |
| Nop58 |
T |
C |
1: 59,744,754 (GRCm39) |
S304P |
probably damaging |
Het |
| Nsd2 |
T |
C |
5: 34,028,811 (GRCm39) |
*167Q |
probably null |
Het |
| Or1e30 |
T |
G |
11: 73,678,616 (GRCm39) |
M284R |
probably damaging |
Het |
| Or2t35 |
T |
A |
14: 14,407,867 (GRCm38) |
I213N |
probably damaging |
Het |
| Or52ab2 |
T |
A |
7: 102,969,978 (GRCm39) |
M120K |
|
Het |
| Pramel29 |
C |
T |
4: 143,935,091 (GRCm39) |
V217I |
possibly damaging |
Het |
| Prdm16 |
C |
T |
4: 154,425,947 (GRCm39) |
G613R |
probably damaging |
Het |
| Prss46 |
T |
C |
9: 110,679,065 (GRCm39) |
S89P |
probably damaging |
Het |
| Scin |
T |
C |
12: 40,174,687 (GRCm39) |
N132S |
possibly damaging |
Het |
| Sec14l2 |
T |
C |
11: 4,058,574 (GRCm39) |
K196R |
probably benign |
Het |
| Sox17 |
C |
A |
1: 4,563,895 (GRCm39) |
|
probably benign |
Het |
| Tango6 |
A |
G |
8: 107,425,621 (GRCm39) |
T394A |
probably benign |
Het |
| Tbc1d22a |
T |
A |
15: 86,250,876 (GRCm39) |
I398N |
probably damaging |
Het |
| Tdpoz8 |
A |
G |
3: 92,981,752 (GRCm39) |
I183V |
probably benign |
Het |
| Tmem8b |
T |
C |
4: 43,689,461 (GRCm39) |
V285A |
probably damaging |
Het |
| Tnfrsf11b |
T |
A |
15: 54,123,497 (GRCm39) |
T35S |
probably benign |
Het |
| Unc13c |
T |
A |
9: 73,606,494 (GRCm39) |
I1289F |
probably benign |
Het |
| Ust |
C |
T |
10: 8,205,987 (GRCm39) |
V99I |
probably benign |
Het |
| Vmn1r76 |
A |
G |
7: 11,664,344 (GRCm39) |
V290A |
probably benign |
Het |
| Vmn2r50 |
T |
C |
7: 9,781,665 (GRCm39) |
N360S |
probably benign |
Het |
| Vmn2r93 |
T |
C |
17: 18,536,910 (GRCm39) |
I531T |
probably benign |
Het |
| Zfp932 |
A |
G |
5: 110,157,630 (GRCm39) |
N443D |
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 |
|
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 |
|
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TGACACCCGTATGTATACCCAGC -3'
(R):5'- AGTCAGAGACACCTTCCCAG -3'
Sequencing Primer
(F):5'- GTATGTATACCCAGCACGCTTAG -3'
(R):5'- AGACACCTTCCCAGGGAGTG -3'
|
| Posted On |
2019-11-12 |
Incidental Mutation