Incidental Mutation 'R7039:Zap70'
| ID |
546906 |
| 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 |
045139-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.246)
|
| Stock # |
R7039 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
1 |
| Chromosomal Location |
36800879-36821899 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 36817832 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Proline to Serine
at position 278
(P278S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000027291
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027291]
|
| AlphaFold |
P43404 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000027291
AA Change: P278S
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000027291
Gene: ENSMUSG00000026117
AA Change: P278S
| 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: 99.6%
- 20x: 98.6%
|
| 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: 72 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Actl7b |
A |
T |
4: 56,741,022 (GRCm39) |
L112Q |
probably damaging |
Het |
| Agap3 |
A |
C |
5: 24,688,399 (GRCm39) |
I396L |
probably benign |
Het |
| AI987944 |
G |
T |
7: 41,023,880 (GRCm39) |
S366R |
probably benign |
Het |
| Aox3 |
A |
G |
1: 58,215,714 (GRCm39) |
T1049A |
probably damaging |
Het |
| Ap1g2 |
A |
T |
14: 55,340,111 (GRCm39) |
L407* |
probably null |
Het |
| Baiap3 |
G |
A |
17: 25,462,814 (GRCm39) |
R1075C |
probably benign |
Het |
| Brd3 |
T |
C |
2: 27,346,929 (GRCm39) |
K402E |
probably damaging |
Het |
| Cc2d2b |
A |
T |
19: 40,790,845 (GRCm39) |
D935V |
probably damaging |
Het |
| Cenpe |
A |
G |
3: 134,961,217 (GRCm39) |
N1904D |
probably benign |
Het |
| Cfap74 |
G |
T |
4: 155,538,565 (GRCm39) |
|
probably null |
Het |
| Chrdl2 |
A |
G |
7: 99,677,879 (GRCm39) |
T261A |
probably damaging |
Het |
| Cyp4a14 |
G |
A |
4: 115,348,278 (GRCm39) |
R400C |
probably benign |
Het |
| Dhfr |
G |
A |
13: 92,491,791 (GRCm39) |
V9I |
probably benign |
Het |
| Epha4 |
A |
G |
1: 77,483,422 (GRCm39) |
S196P |
probably damaging |
Het |
| Evc2 |
T |
A |
5: 37,579,232 (GRCm39) |
L1115Q |
probably damaging |
Het |
| Fat3 |
T |
A |
9: 16,287,561 (GRCm39) |
E654V |
probably damaging |
Het |
| Fcgbpl1 |
G |
A |
7: 27,839,573 (GRCm39) |
R462Q |
possibly damaging |
Het |
| Fer1l4 |
C |
T |
2: 155,878,650 (GRCm39) |
V14I |
probably benign |
Het |
| Frmd5 |
A |
T |
2: 121,378,128 (GRCm39) |
|
probably benign |
Het |
| Helz |
T |
C |
11: 107,510,144 (GRCm39) |
|
probably null |
Het |
| Igkv6-13 |
T |
C |
6: 70,434,498 (GRCm39) |
S116G |
probably benign |
Het |
| Iscu |
T |
C |
5: 113,914,833 (GRCm39) |
V115A |
possibly damaging |
Het |
| Jade2 |
C |
A |
11: 51,719,186 (GRCm39) |
K253N |
probably damaging |
Het |
| Katnal2 |
A |
G |
18: 77,134,868 (GRCm39) |
|
probably null |
Het |
| Kif13a |
C |
T |
13: 46,905,931 (GRCm39) |
V671M |
possibly damaging |
Het |
| Magi3 |
T |
C |
3: 103,958,699 (GRCm39) |
D462G |
probably damaging |
Het |
| Map3k14 |
T |
C |
11: 103,111,861 (GRCm39) |
N940S |
probably damaging |
Het |
| Masp2 |
A |
T |
4: 148,687,043 (GRCm39) |
M1L |
probably benign |
Het |
| Mga |
G |
A |
2: 119,763,159 (GRCm39) |
V1272I |
probably benign |
Het |
| Mib2 |
T |
C |
4: 155,744,158 (GRCm39) |
D168G |
probably damaging |
Het |
| Mmp1a |
TG |
TGG |
9: 7,465,083 (GRCm38) |
|
probably null |
Het |
| Msto1 |
A |
C |
3: 88,818,697 (GRCm39) |
V287G |
probably damaging |
Het |
| Myo5b |
T |
A |
18: 74,834,599 (GRCm39) |
D886E |
probably benign |
Het |
| Nek10 |
T |
C |
14: 14,826,946 (GRCm38) |
I48T |
possibly damaging |
Het |
| Nek10 |
A |
T |
14: 14,986,700 (GRCm38) |
R1013W |
probably damaging |
Het |
| Nipsnap3a |
T |
C |
4: 53,000,130 (GRCm39) |
V194A |
probably damaging |
Het |
| Nlrp9a |
A |
T |
7: 26,267,367 (GRCm39) |
T766S |
probably benign |
Het |
| Nol10 |
T |
A |
12: 17,479,185 (GRCm39) |
S672T |
possibly damaging |
Het |
| Or4a80 |
A |
T |
2: 89,583,095 (GRCm39) |
F26I |
probably benign |
Het |
| Or4c121 |
A |
T |
2: 89,023,790 (GRCm39) |
I196N |
probably damaging |
Het |
| Or8d1b |
T |
A |
9: 38,887,283 (GRCm39) |
F104I |
probably damaging |
Het |
| Or8j3c |
A |
T |
2: 86,253,177 (GRCm39) |
I281K |
possibly damaging |
Het |
| Patj |
T |
A |
4: 98,457,315 (GRCm39) |
N1272K |
probably damaging |
Het |
| Peak1 |
T |
C |
9: 56,165,093 (GRCm39) |
E945G |
probably benign |
Het |
| Peg3 |
C |
T |
7: 6,720,858 (GRCm39) |
D16N |
probably damaging |
Het |
| Pik3r4 |
T |
G |
9: 105,554,089 (GRCm39) |
I1082M |
possibly damaging |
Het |
| Plekhg5 |
T |
A |
4: 152,192,242 (GRCm39) |
M472K |
possibly damaging |
Het |
| Plekhm1 |
T |
C |
11: 103,286,054 (GRCm39) |
D127G |
probably damaging |
Het |
| Ppfia4 |
G |
A |
1: 134,239,853 (GRCm39) |
S908L |
probably damaging |
Het |
| Psmc3 |
A |
G |
2: 90,885,391 (GRCm39) |
N60S |
probably benign |
Het |
| Rapgef1 |
T |
A |
2: 29,616,226 (GRCm39) |
D697E |
probably damaging |
Het |
| Rapgef3 |
T |
A |
15: 97,659,449 (GRCm39) |
H54L |
probably benign |
Het |
| Rhobtb3 |
G |
A |
13: 76,020,572 (GRCm39) |
R577* |
probably null |
Het |
| Safb2 |
T |
C |
17: 56,871,594 (GRCm39) |
E218G |
possibly damaging |
Het |
| Scaf1 |
C |
T |
7: 44,657,850 (GRCm39) |
R343H |
probably damaging |
Het |
| Snx24 |
G |
A |
18: 53,473,307 (GRCm39) |
|
probably null |
Het |
| Tbc1d1 |
T |
C |
5: 64,442,100 (GRCm39) |
F707L |
probably benign |
Het |
| Tcaf2 |
T |
C |
6: 42,603,074 (GRCm39) |
T829A |
probably damaging |
Het |
| Tcea2 |
C |
T |
2: 181,328,711 (GRCm39) |
Q248* |
probably null |
Het |
| Tcirg1 |
A |
T |
19: 3,946,666 (GRCm39) |
L729Q |
probably damaging |
Het |
| Thap3 |
A |
G |
4: 152,070,149 (GRCm39) |
F82L |
probably damaging |
Het |
| Ttk |
T |
A |
9: 83,750,145 (GRCm39) |
M700K |
probably damaging |
Het |
| Ubap2l |
G |
T |
3: 89,909,662 (GRCm39) |
P56H |
probably damaging |
Het |
| Ubr2 |
A |
G |
17: 47,321,139 (GRCm39) |
S3P |
probably benign |
Het |
| Uchl3 |
C |
T |
14: 101,923,128 (GRCm39) |
|
probably benign |
Het |
| Vmn2r111 |
T |
A |
17: 22,767,165 (GRCm39) |
E777D |
probably damaging |
Het |
| Vmn2r20 |
A |
T |
6: 123,363,082 (GRCm39) |
D567E |
probably damaging |
Het |
| Vps13c |
T |
G |
9: 67,845,045 (GRCm39) |
L2043R |
probably damaging |
Het |
| Zan |
T |
G |
5: 137,398,396 (GRCm39) |
D4212A |
unknown |
Het |
| Zbtb8b |
A |
T |
4: 129,321,478 (GRCm39) |
M461K |
possibly damaging |
Het |
| Zfat |
T |
G |
15: 68,052,211 (GRCm39) |
I528L |
probably benign |
Het |
| Zfp532 |
T |
G |
18: 65,771,834 (GRCm39) |
V784G |
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 |
|
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'- TTGCTCCCTAACAGTTGCTG -3'
(R):5'- GATGACTAAGCATTGCTGTGC -3'
Sequencing Primer
(F):5'- CCTAACAGTTGCTGCACCC -3'
(R):5'- GCATTGCTGTGCATGGGACAG -3'
|
| Posted On |
2019-05-13 |
Incidental Mutation