Incidental Mutation 'R0487:Zap70'
| ID |
42318 |
| 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 |
038686-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.322)
|
| Stock # |
R0487 (G1)
|
| Quality Score |
190 |
|
Status
|
Not validated
|
| Chromosome |
1 |
| Chromosomal Location |
36800879-36821899 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 36818365 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Leucine
at position 351
(V351L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000027291
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027291]
|
| AlphaFold |
P43404 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000027291
AA Change: V351L
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000027291
Gene: ENSMUSG00000026117
AA Change: V351L
| 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
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.2%
- 10x: 95.9%
- 20x: 91.6%
|
| 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: 62 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca13 |
A |
T |
11: 9,281,687 (GRCm39) |
M3190L |
probably benign |
Het |
| Adgrv1 |
A |
T |
13: 81,637,154 (GRCm39) |
L3429H |
probably damaging |
Het |
| Ahnak |
A |
G |
19: 8,991,484 (GRCm39) |
D4256G |
probably damaging |
Het |
| Ahnak |
A |
G |
19: 8,984,515 (GRCm39) |
N1933S |
probably benign |
Het |
| Amacr |
A |
G |
15: 10,984,835 (GRCm39) |
D151G |
probably benign |
Het |
| Ano9 |
A |
T |
7: 140,687,762 (GRCm39) |
H255Q |
possibly damaging |
Het |
| Asphd2 |
A |
T |
5: 112,539,501 (GRCm39) |
Y111N |
possibly damaging |
Het |
| Cage1 |
T |
A |
13: 38,209,334 (GRCm39) |
K214N |
probably benign |
Het |
| Cdkn2c |
A |
G |
4: 109,518,606 (GRCm39) |
L116P |
probably damaging |
Het |
| Cltc |
C |
T |
11: 86,624,490 (GRCm39) |
R148H |
probably damaging |
Het |
| Cmbl |
A |
G |
15: 31,582,176 (GRCm39) |
N58D |
probably damaging |
Het |
| Cpa6 |
T |
C |
1: 10,479,487 (GRCm39) |
T249A |
possibly damaging |
Het |
| Cpsf1 |
T |
A |
15: 76,481,202 (GRCm39) |
N1218I |
probably damaging |
Het |
| Csf2rb |
T |
C |
15: 78,232,531 (GRCm39) |
S613P |
probably benign |
Het |
| Ctnnd1 |
A |
G |
2: 84,439,411 (GRCm39) |
S761P |
probably damaging |
Het |
| Cxcr6 |
A |
C |
9: 123,639,463 (GRCm39) |
I155L |
probably benign |
Het |
| Ecpas |
A |
G |
4: 58,819,155 (GRCm39) |
V1265A |
probably damaging |
Het |
| Fam216a |
A |
G |
5: 122,508,576 (GRCm39) |
|
probably null |
Het |
| Fgf10 |
T |
A |
13: 118,918,147 (GRCm39) |
|
probably null |
Het |
| Fgf17 |
T |
C |
14: 70,875,996 (GRCm39) |
T79A |
probably damaging |
Het |
| G3bp1 |
T |
C |
11: 55,389,452 (GRCm39) |
F383L |
probably damaging |
Het |
| Gm1527 |
G |
T |
3: 28,980,828 (GRCm39) |
V643L |
probably benign |
Het |
| Hmcn2 |
A |
T |
2: 31,276,689 (GRCm39) |
Q1556L |
possibly damaging |
Het |
| Hspa4l |
C |
T |
3: 40,738,758 (GRCm39) |
T616I |
possibly damaging |
Het |
| Irag2 |
A |
G |
6: 145,110,986 (GRCm39) |
S264G |
probably benign |
Het |
| Irgm1 |
T |
C |
11: 48,757,154 (GRCm39) |
D219G |
probably damaging |
Het |
| Jcad |
A |
G |
18: 4,673,243 (GRCm39) |
D335G |
probably damaging |
Het |
| Kcnh4 |
A |
G |
11: 100,641,084 (GRCm39) |
F455S |
probably damaging |
Het |
| Khdrbs3 |
T |
C |
15: 68,889,210 (GRCm39) |
Y120H |
probably damaging |
Het |
| Kndc1 |
A |
T |
7: 139,493,939 (GRCm39) |
T507S |
probably null |
Het |
| Lepr |
G |
T |
4: 101,625,290 (GRCm39) |
E482* |
probably null |
Het |
| Mcemp1 |
T |
A |
8: 3,717,507 (GRCm39) |
M146K |
probably benign |
Het |
| Mllt10 |
A |
G |
2: 18,211,948 (GRCm39) |
T411A |
probably damaging |
Het |
| Myh8 |
A |
T |
11: 67,192,837 (GRCm39) |
I1543L |
probably benign |
Het |
| Myo1f |
T |
C |
17: 33,797,258 (GRCm39) |
S147P |
probably damaging |
Het |
| Myrf |
G |
C |
19: 10,195,526 (GRCm39) |
T428S |
probably benign |
Het |
| Or5j1 |
C |
T |
2: 86,878,837 (GRCm39) |
V248I |
probably damaging |
Het |
| Plaat1 |
G |
A |
16: 29,039,331 (GRCm39) |
|
probably null |
Het |
| Plch2 |
G |
A |
4: 155,093,469 (GRCm39) |
R57C |
probably damaging |
Het |
| Rbm20 |
G |
A |
19: 53,839,626 (GRCm39) |
G872R |
probably damaging |
Het |
| Retsat |
A |
T |
6: 72,583,414 (GRCm39) |
I373F |
probably damaging |
Het |
| Rnf145 |
T |
C |
11: 44,446,056 (GRCm39) |
F297L |
probably benign |
Het |
| Ros1 |
A |
T |
10: 52,031,204 (GRCm39) |
M479K |
possibly damaging |
Het |
| Rubcnl |
T |
A |
14: 75,273,521 (GRCm39) |
N244K |
probably benign |
Het |
| Samhd1 |
A |
G |
2: 156,952,535 (GRCm39) |
F406L |
probably damaging |
Het |
| Sdsl |
A |
T |
5: 120,597,533 (GRCm39) |
V258D |
probably damaging |
Het |
| Sec24c |
C |
G |
14: 20,733,467 (GRCm39) |
P166A |
probably benign |
Het |
| Sele |
C |
A |
1: 163,881,184 (GRCm39) |
Y461* |
probably null |
Het |
| Slc22a1 |
G |
T |
17: 12,881,487 (GRCm39) |
S334* |
probably null |
Het |
| Spem1 |
T |
G |
11: 69,712,691 (GRCm39) |
|
probably null |
Het |
| Stat3 |
T |
C |
11: 100,794,469 (GRCm39) |
E280G |
probably damaging |
Het |
| Stxbp4 |
T |
C |
11: 90,483,186 (GRCm39) |
H280R |
probably benign |
Het |
| Tas2r129 |
G |
A |
6: 132,928,906 (GRCm39) |
C281Y |
probably benign |
Het |
| Tas2r129 |
T |
G |
6: 132,928,907 (GRCm39) |
C281W |
probably benign |
Het |
| Tcp11 |
T |
A |
17: 28,298,897 (GRCm39) |
|
probably null |
Het |
| Tnrc6b |
G |
A |
15: 80,764,876 (GRCm39) |
V793M |
probably benign |
Het |
| Vmn2r59 |
A |
C |
7: 41,696,528 (GRCm39) |
Y71* |
probably null |
Het |
| Wdr35 |
T |
C |
12: 9,062,743 (GRCm39) |
|
probably null |
Het |
| Zan |
A |
G |
5: 137,411,620 (GRCm39) |
|
probably null |
Het |
| Zfp609 |
G |
T |
9: 65,609,916 (GRCm39) |
Q1016K |
unknown |
Het |
| Zfp641 |
C |
A |
15: 98,187,060 (GRCm39) |
V188L |
probably benign |
Het |
| Zpld2 |
A |
T |
4: 133,930,089 (GRCm39) |
L72Q |
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 |
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- ACAGCAATGCTTAGTCATCACGCC -3'
(R):5'- TCTCAGTCAGAGACACCTTCCCAG -3'
Sequencing Primer
(F):5'- TGTATATCCTAGTGTATGCCACG -3'
(R):5'- AGACACCTTCCCAGGGAGTG -3'
|
| Posted On |
2013-05-23 |
Incidental Mutation