Incidental Mutation 'R1520:Zap70'
| ID |
167336 |
| 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 |
039564-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.246)
|
| Stock # |
R1520 (G1)
|
| Quality Score |
137 |
|
Status
|
Not validated
|
| Chromosome |
1 |
| Chromosomal Location |
36800879-36821899 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 36810036 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 49
(S49P)
|
| 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: S49P
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000027291
Gene: ENSMUSG00000026117
AA Change: S49P
| 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 damaging
Transcript: ENSMUST00000185871
AA Change: S49P
PolyPhen 2
Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000139990
Gene: ENSMUSG00000026117
AA Change: S49P
| Domain | Start | End | E-Value | Type |
|---|
|
SH2
|
8 |
85 |
1.9e-16 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000186624
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 94.4%
|
| 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: 59 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca7 |
A |
G |
10: 79,844,664 (GRCm39) |
N1491S |
possibly damaging |
Het |
| Abcb1b |
G |
A |
5: 8,864,768 (GRCm39) |
A249T |
probably damaging |
Het |
| Acacb |
A |
G |
5: 114,340,001 (GRCm39) |
D804G |
possibly damaging |
Het |
| Agpat3 |
A |
T |
10: 78,123,857 (GRCm39) |
M1K |
probably null |
Het |
| Akr1c12 |
A |
C |
13: 4,326,298 (GRCm39) |
I61R |
probably damaging |
Het |
| Antxr2 |
G |
A |
5: 98,108,551 (GRCm39) |
A320V |
probably benign |
Het |
| Aoc1l2 |
T |
A |
6: 48,908,231 (GRCm39) |
Y410* |
probably null |
Het |
| Arhgef1 |
A |
G |
7: 24,619,129 (GRCm39) |
R454G |
probably damaging |
Het |
| C1ql4 |
T |
C |
15: 98,985,548 (GRCm39) |
H21R |
probably benign |
Het |
| Celsr3 |
T |
C |
9: 108,725,857 (GRCm39) |
S3029P |
probably damaging |
Het |
| Chaf1a |
T |
C |
17: 56,354,302 (GRCm39) |
C191R |
unknown |
Het |
| Corin |
A |
C |
5: 72,488,238 (GRCm39) |
C627G |
probably damaging |
Het |
| Cyp3a11 |
T |
C |
5: 145,799,263 (GRCm39) |
Y308C |
probably damaging |
Het |
| Cyp4a32 |
A |
G |
4: 115,471,849 (GRCm39) |
N420S |
probably damaging |
Het |
| Eftud2 |
A |
G |
11: 102,730,266 (GRCm39) |
S889P |
probably damaging |
Het |
| Eng |
A |
G |
2: 32,562,953 (GRCm39) |
H267R |
probably benign |
Het |
| Ep400 |
A |
G |
5: 110,839,644 (GRCm39) |
|
probably benign |
Het |
| Fmo9 |
G |
T |
1: 166,495,024 (GRCm39) |
H292Q |
probably benign |
Het |
| Frmpd4 |
T |
C |
X: 166,275,949 (GRCm39) |
S373G |
probably damaging |
Het |
| Fsip2 |
T |
A |
2: 82,811,058 (GRCm39) |
I2459K |
possibly damaging |
Het |
| Gbp5 |
A |
T |
3: 142,213,775 (GRCm39) |
H523L |
probably damaging |
Het |
| Gpr65 |
T |
C |
12: 98,241,434 (GRCm39) |
V29A |
probably benign |
Het |
| Igkv7-33 |
T |
A |
6: 70,036,132 (GRCm39) |
|
probably benign |
Het |
| Iqcc |
G |
A |
4: 129,510,762 (GRCm39) |
T251I |
possibly damaging |
Het |
| Jund |
A |
G |
8: 71,151,923 (GRCm39) |
T73A |
probably benign |
Het |
| Kif14 |
A |
G |
1: 136,431,062 (GRCm39) |
D1153G |
probably benign |
Het |
| Mcm8 |
T |
C |
2: 132,681,375 (GRCm39) |
V617A |
probably benign |
Het |
| Mdga1 |
A |
G |
17: 30,065,493 (GRCm39) |
F646L |
probably benign |
Het |
| Morc3 |
A |
G |
16: 93,641,129 (GRCm39) |
K54E |
probably damaging |
Het |
| Mutyh |
T |
C |
4: 116,674,749 (GRCm39) |
L357P |
probably damaging |
Het |
| Mylk4 |
T |
C |
13: 32,896,821 (GRCm39) |
|
probably null |
Het |
| Or4k41 |
G |
A |
2: 111,279,619 (GRCm39) |
V45I |
probably benign |
Het |
| Osbpl3 |
T |
A |
6: 50,323,411 (GRCm39) |
D224V |
possibly damaging |
Het |
| Parp4 |
T |
C |
14: 56,835,863 (GRCm39) |
I469T |
probably damaging |
Het |
| Pkd1l2 |
A |
G |
8: 117,772,898 (GRCm39) |
V1043A |
probably benign |
Het |
| Plod3 |
A |
G |
5: 137,020,165 (GRCm39) |
N460S |
probably damaging |
Het |
| Preb |
A |
G |
5: 31,115,868 (GRCm39) |
F192L |
probably benign |
Het |
| Prkra |
T |
C |
2: 76,469,622 (GRCm39) |
T146A |
possibly damaging |
Het |
| Pwwp4a |
G |
T |
X: 72,171,261 (GRCm39) |
G218C |
probably damaging |
Het |
| Rag2 |
T |
C |
2: 101,460,476 (GRCm39) |
I262T |
probably damaging |
Het |
| Rgr |
A |
G |
14: 36,766,672 (GRCm39) |
W125R |
probably damaging |
Het |
| Rit1 |
T |
A |
3: 88,636,620 (GRCm39) |
F211I |
probably benign |
Het |
| Sc5d |
C |
T |
9: 42,169,946 (GRCm39) |
V92I |
probably benign |
Het |
| Serinc2 |
C |
T |
4: 130,154,543 (GRCm39) |
V234I |
probably benign |
Het |
| Srp54b |
T |
C |
12: 55,304,354 (GRCm39) |
M434T |
possibly damaging |
Het |
| Srrt |
C |
A |
5: 137,297,028 (GRCm39) |
R69L |
probably damaging |
Het |
| Sv2b |
A |
G |
7: 74,807,077 (GRCm39) |
L191P |
probably damaging |
Het |
| Tcf12 |
C |
A |
9: 71,790,388 (GRCm39) |
|
probably null |
Het |
| Tmem273 |
A |
T |
14: 32,527,083 (GRCm39) |
|
probably benign |
Het |
| Tmem87b |
T |
C |
2: 128,681,176 (GRCm39) |
|
probably null |
Het |
| Ttn |
T |
C |
2: 76,647,392 (GRCm39) |
E11031G |
possibly damaging |
Het |
| Uaca |
A |
T |
9: 60,778,663 (GRCm39) |
T1017S |
probably benign |
Het |
| Urb1 |
C |
A |
16: 90,571,633 (GRCm39) |
V1059L |
probably benign |
Het |
| V1rd19 |
G |
A |
7: 23,702,623 (GRCm39) |
A30T |
probably damaging |
Het |
| Vldlr |
C |
T |
19: 27,217,943 (GRCm39) |
L91F |
probably damaging |
Het |
| Vldlr |
G |
T |
19: 27,224,466 (GRCm39) |
A770S |
possibly damaging |
Het |
| Vmn2r80 |
A |
G |
10: 79,030,594 (GRCm39) |
T807A |
probably damaging |
Het |
| Wwox |
C |
T |
8: 115,438,873 (GRCm39) |
P313L |
probably benign |
Het |
| Zfp317 |
A |
G |
9: 19,559,144 (GRCm39) |
I453V |
possibly 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 |
|
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'- TGAAACGCCTTTGCACCCACAG -3'
(R):5'- TAGTCGCGCACCATAGCATCAC -3'
Sequencing Primer
(F):5'- CACAGGGTCCAGCGATG -3'
(R):5'- TAGCATCACGCAGGCAGTC -3'
|
| Posted On |
2014-04-13 |
Incidental Mutation