Incidental Mutation 'R3690:Zap70'
| ID |
269703 |
| 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 |
040685-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.246)
|
| Stock # |
R3690 (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 36820493 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Arginine
at position 563
(C563R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000027291
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027291]
|
| AlphaFold |
P43404 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000027291
AA Change: C563R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000027291
Gene: ENSMUSG00000026117
AA Change: C563R
| 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 |
0.9708 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.2%
- 20x: 95.0%
|
| Validation Efficiency |
98% (54/55) |
| 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: 54 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aass |
T |
A |
6: 23,091,328 (GRCm39) |
Y629F |
probably benign |
Het |
| Abcb5 |
T |
A |
12: 118,836,668 (GRCm39) |
D1081V |
probably damaging |
Het |
| Afdn |
A |
G |
17: 14,108,671 (GRCm39) |
E1398G |
probably damaging |
Het |
| Atp8b5 |
T |
C |
4: 43,368,055 (GRCm39) |
C893R |
probably damaging |
Het |
| Avl9 |
C |
T |
6: 56,713,812 (GRCm39) |
H357Y |
probably benign |
Het |
| Bclaf1 |
C |
T |
10: 20,201,143 (GRCm39) |
T423I |
possibly damaging |
Het |
| Btbd19 |
A |
T |
4: 116,977,789 (GRCm39) |
|
probably benign |
Het |
| Cap1 |
A |
G |
4: 122,758,419 (GRCm39) |
S254P |
probably damaging |
Het |
| Cdc42ep1 |
T |
C |
15: 78,731,629 (GRCm39) |
S25P |
probably benign |
Het |
| Cln6 |
T |
C |
9: 62,754,252 (GRCm39) |
I98T |
possibly damaging |
Het |
| Cul9 |
T |
C |
17: 46,814,957 (GRCm39) |
|
probably null |
Het |
| Dcx |
T |
C |
X: 142,660,240 (GRCm39) |
E268G |
possibly damaging |
Het |
| Ddias |
G |
A |
7: 92,509,366 (GRCm39) |
P183L |
probably benign |
Het |
| Dnase2b |
A |
T |
3: 146,299,326 (GRCm39) |
Y42* |
probably null |
Het |
| Dusp16 |
C |
T |
6: 134,738,082 (GRCm39) |
|
probably benign |
Het |
| Egfr |
T |
C |
11: 16,821,881 (GRCm39) |
|
probably benign |
Het |
| Fam171a1 |
T |
C |
2: 3,227,393 (GRCm39) |
V842A |
probably benign |
Het |
| Folr1 |
T |
C |
7: 101,507,745 (GRCm39) |
S232G |
probably benign |
Het |
| Foxj3 |
T |
C |
4: 119,473,839 (GRCm39) |
|
probably benign |
Het |
| Fpr-rs6 |
T |
C |
17: 20,403,137 (GRCm39) |
M75V |
probably benign |
Het |
| Fxyd5 |
G |
T |
7: 30,735,864 (GRCm39) |
L128M |
possibly damaging |
Het |
| Gigyf2 |
T |
C |
1: 87,349,238 (GRCm39) |
S500P |
possibly damaging |
Het |
| Inppl1 |
A |
G |
7: 101,481,275 (GRCm39) |
L268P |
probably damaging |
Het |
| Klk1b24 |
A |
T |
7: 43,841,243 (GRCm39) |
H192L |
probably benign |
Het |
| Llgl1 |
T |
G |
11: 60,597,828 (GRCm39) |
Y316D |
probably damaging |
Het |
| Lmbrd1 |
T |
A |
1: 24,801,374 (GRCm39) |
*143R |
probably null |
Het |
| Map3k15 |
T |
A |
X: 158,905,568 (GRCm39) |
N1295K |
possibly damaging |
Het |
| Mcm3ap |
A |
G |
10: 76,318,513 (GRCm39) |
E678G |
probably damaging |
Het |
| Mrpl44 |
T |
A |
1: 79,757,366 (GRCm39) |
Y270* |
probably null |
Het |
| Nav1 |
T |
A |
1: 135,395,382 (GRCm39) |
I996L |
probably benign |
Het |
| Neb |
T |
C |
2: 52,027,397 (GRCm39) |
E6868G |
probably damaging |
Het |
| Nexmif |
A |
T |
X: 103,131,213 (GRCm39) |
Y235N |
probably damaging |
Het |
| Nup50 |
C |
T |
15: 84,823,994 (GRCm39) |
T449M |
probably damaging |
Het |
| Or14a256 |
G |
A |
7: 86,265,686 (GRCm39) |
P56S |
probably damaging |
Het |
| Or2b6 |
A |
G |
13: 21,823,508 (GRCm39) |
F62L |
probably damaging |
Het |
| Or51aa2 |
T |
C |
7: 103,188,274 (GRCm39) |
T56A |
probably benign |
Het |
| Or52e8b |
A |
G |
7: 104,673,902 (GRCm39) |
L95P |
probably damaging |
Het |
| Or52n2 |
T |
C |
7: 104,542,724 (GRCm39) |
Y37C |
possibly damaging |
Het |
| Pald1 |
A |
T |
10: 61,191,587 (GRCm39) |
|
probably null |
Het |
| Pde11a |
T |
A |
2: 76,121,510 (GRCm39) |
K357I |
probably damaging |
Het |
| Ric3 |
A |
G |
7: 108,637,817 (GRCm39) |
V312A |
possibly damaging |
Het |
| Scaper |
C |
T |
9: 55,791,205 (GRCm39) |
G231D |
probably benign |
Het |
| Smc1b |
T |
A |
15: 85,001,464 (GRCm39) |
|
probably benign |
Het |
| Smcr8 |
A |
G |
11: 60,668,854 (GRCm39) |
M1V |
probably null |
Het |
| Smtn |
T |
C |
11: 3,477,687 (GRCm39) |
|
probably benign |
Het |
| Spatc1 |
A |
T |
15: 76,152,495 (GRCm39) |
K42* |
probably null |
Het |
| Taf7l |
A |
T |
X: 133,365,074 (GRCm39) |
I449K |
probably damaging |
Het |
| Tex47 |
A |
G |
5: 7,354,777 (GRCm39) |
|
probably benign |
Het |
| Tram2 |
T |
A |
1: 21,075,824 (GRCm39) |
Y198F |
probably damaging |
Het |
| Ttn |
C |
G |
2: 76,629,588 (GRCm39) |
W14284C |
probably damaging |
Het |
| Ube3a |
A |
G |
7: 58,926,547 (GRCm39) |
K442E |
probably damaging |
Het |
| Vmn2r116 |
T |
A |
17: 23,603,798 (GRCm39) |
F8I |
unknown |
Het |
| Vmn2r59 |
A |
G |
7: 41,661,370 (GRCm39) |
F815S |
possibly damaging |
Het |
| Zfp579 |
T |
C |
7: 4,997,719 (GRCm39) |
H64R |
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 |
|
|
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 |
|
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'- CGCCAGAGTGCATCAACTTTC -3'
(R):5'- TGTGACTCTGTGAGTGGAATAC -3'
Sequencing Primer
(F):5'- CCAGAGTGCATCAACTTTCGGAAG -3'
(R):5'- TGACTCTGTGAGTGGAATACTAAGG -3'
|
| Posted On |
2015-02-19 |
Incidental Mutation