Incidental Mutation 'R0960:Zap70'
ID |
81803 |
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 |
039089-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.322)
|
Stock # |
R0960 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
1 |
Chromosomal Location |
36800879-36821899 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 36818254 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Histidine
at position 314
(Y314H)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000027291
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027291]
|
AlphaFold |
P43404 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000027291
AA Change: Y314H
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000027291 Gene: ENSMUSG00000026117 AA Change: Y314H
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
|
Meta Mutation Damage Score |
0.0775 |
Coding Region Coverage |
- 1x: 99.5%
- 3x: 99.0%
- 10x: 97.8%
- 20x: 96.0%
|
Validation Efficiency |
98% (49/50) |
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: 48 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1810009A15Rik |
T |
C |
19: 8,867,792 (GRCm39) |
V256A |
probably benign |
Het |
4930433I11Rik |
A |
T |
7: 40,642,480 (GRCm39) |
T141S |
probably benign |
Het |
4930474N05Rik |
C |
A |
14: 35,818,367 (GRCm39) |
H122N |
probably benign |
Het |
Aamp |
T |
C |
1: 74,320,304 (GRCm39) |
T341A |
possibly damaging |
Het |
Adam26a |
A |
T |
8: 44,021,800 (GRCm39) |
H563Q |
probably damaging |
Het |
Ankrd13a |
G |
A |
5: 114,924,868 (GRCm39) |
E118K |
probably benign |
Het |
Asic5 |
A |
G |
3: 81,913,847 (GRCm39) |
I174V |
probably benign |
Het |
Atad2b |
G |
A |
12: 5,056,593 (GRCm39) |
|
probably benign |
Het |
Bub1b |
A |
G |
2: 118,437,161 (GRCm39) |
I120V |
probably benign |
Het |
Casp8 |
T |
C |
1: 58,868,172 (GRCm39) |
|
probably null |
Het |
Cdk5rap2 |
A |
G |
4: 70,161,745 (GRCm39) |
Y254H |
probably benign |
Het |
Clasp1 |
T |
C |
1: 118,479,756 (GRCm39) |
I996T |
probably benign |
Het |
Cntn6 |
A |
G |
6: 104,751,441 (GRCm39) |
I294V |
probably benign |
Het |
Flnc |
A |
G |
6: 29,441,511 (GRCm39) |
D431G |
probably damaging |
Het |
Gm4884 |
T |
A |
7: 40,692,232 (GRCm39) |
M67K |
possibly damaging |
Het |
Hmx3 |
T |
C |
7: 131,145,043 (GRCm39) |
Y118H |
probably benign |
Het |
Hsf2bp |
C |
T |
17: 32,226,743 (GRCm39) |
R204H |
probably damaging |
Het |
Il12b |
G |
T |
11: 44,299,315 (GRCm39) |
C128F |
probably damaging |
Het |
Ints6 |
T |
C |
14: 62,947,015 (GRCm39) |
M317V |
probably benign |
Het |
Iqca1 |
C |
A |
1: 90,070,453 (GRCm39) |
G133V |
probably null |
Het |
Kcnh2 |
C |
T |
5: 24,527,670 (GRCm39) |
R894H |
probably damaging |
Het |
Kif27 |
T |
C |
13: 58,471,781 (GRCm39) |
E769G |
probably damaging |
Het |
Kif28 |
G |
A |
1: 179,523,370 (GRCm39) |
Q987* |
probably null |
Het |
Klhdc3 |
T |
C |
17: 46,987,444 (GRCm39) |
H330R |
possibly damaging |
Het |
Leo1 |
G |
A |
9: 75,352,522 (GRCm39) |
E22K |
probably benign |
Het |
Lpcat2 |
C |
T |
8: 93,596,338 (GRCm39) |
T125M |
probably benign |
Het |
Map1a |
A |
G |
2: 121,132,124 (GRCm39) |
Y742C |
probably benign |
Het |
Mllt6 |
C |
T |
11: 97,555,772 (GRCm39) |
|
probably benign |
Het |
Mpp2 |
A |
G |
11: 101,952,411 (GRCm39) |
V354A |
possibly damaging |
Het |
Mroh2a |
C |
A |
1: 88,170,142 (GRCm39) |
A685D |
possibly damaging |
Het |
Myo10 |
A |
G |
15: 25,801,275 (GRCm39) |
E1488G |
probably damaging |
Het |
Neb |
A |
G |
2: 52,102,995 (GRCm39) |
V4461A |
probably benign |
Het |
Nudcd1 |
G |
T |
15: 44,291,047 (GRCm39) |
|
probably benign |
Het |
Or10ag59 |
T |
C |
2: 87,406,279 (GRCm39) |
Y284H |
probably benign |
Het |
Or2w1b |
A |
C |
13: 21,300,435 (GRCm39) |
D191A |
possibly damaging |
Het |
Pde1a |
G |
A |
2: 79,695,378 (GRCm39) |
|
probably benign |
Het |
Sdha |
A |
T |
13: 74,471,303 (GRCm39) |
|
probably benign |
Het |
Selenoo |
T |
G |
15: 88,980,957 (GRCm39) |
I432S |
probably benign |
Het |
Sh3gl2 |
A |
T |
4: 85,295,717 (GRCm39) |
I140F |
probably damaging |
Het |
Svopl |
G |
T |
6: 37,993,992 (GRCm39) |
Y346* |
probably null |
Het |
Tbc1d17 |
C |
T |
7: 44,497,852 (GRCm39) |
|
probably benign |
Het |
Tlr3 |
A |
C |
8: 45,850,452 (GRCm39) |
I815S |
probably damaging |
Het |
Tmem25 |
T |
A |
9: 44,706,809 (GRCm39) |
|
probably null |
Het |
Tpd52 |
A |
T |
3: 9,008,650 (GRCm39) |
|
probably null |
Het |
Tspoap1 |
A |
T |
11: 87,661,421 (GRCm39) |
|
probably benign |
Het |
Txndc11 |
A |
T |
16: 10,909,453 (GRCm39) |
D364E |
probably benign |
Het |
Unc5cl |
G |
T |
17: 48,766,624 (GRCm39) |
|
probably benign |
Het |
Vmn1r13 |
A |
G |
6: 57,186,996 (GRCm39) |
M52V |
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 |
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 |
|
|
Predicted Primers |
PCR Primer
(F):5'- ACAGCAATGCTTAGTCATCACGCC -3'
(R):5'- TCTCAGTCAGAGACACCTTCCCAG -3'
Sequencing Primer
(F):5'- TGTATATCCTAGTGTATGCCACG -3'
(R):5'- ATAACTTCATAAGCCCTCCTAGTGG -3'
|
Posted On |
2013-11-08 |