Incidental Mutation 'R4632:Zap70'
ID |
349238 |
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 |
041897-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.322)
|
Stock # |
R4632 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
1 |
Chromosomal Location |
36800879-36821899 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to T
at 36817539 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Alanine to Serine
at position 261
(A261S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000027291
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027291]
|
AlphaFold |
P43404 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000027291
AA Change: A261S
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000027291 Gene: ENSMUSG00000026117 AA Change: A261S
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: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.2%
|
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: 76 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcg1 |
T |
C |
17: 31,283,447 (GRCm39) |
V44A |
probably benign |
Het |
Abr |
C |
T |
11: 76,399,845 (GRCm39) |
G39R |
probably benign |
Het |
Adora2b |
TGGACCACTCCAGGACCACTC |
TGGACCACTC |
11: 62,156,208 (GRCm39) |
|
probably null |
Het |
Agbl1 |
A |
G |
7: 76,063,433 (GRCm39) |
T47A |
probably benign |
Het |
Akap13 |
G |
T |
7: 75,316,301 (GRCm39) |
A1389S |
possibly damaging |
Het |
Alkbh2 |
C |
T |
5: 114,262,287 (GRCm39) |
E148K |
probably damaging |
Het |
Ankar |
T |
A |
1: 72,686,343 (GRCm39) |
T1286S |
probably benign |
Het |
Ankrd13c |
A |
G |
3: 157,667,939 (GRCm39) |
H166R |
probably damaging |
Het |
Aopep |
T |
C |
13: 63,215,906 (GRCm39) |
S393P |
probably benign |
Het |
Arl16 |
A |
G |
11: 120,356,610 (GRCm39) |
S130P |
probably damaging |
Het |
Atp10a |
A |
T |
7: 58,457,186 (GRCm39) |
Q895L |
possibly damaging |
Het |
Atp13a5 |
T |
A |
16: 29,167,537 (GRCm39) |
R138W |
probably damaging |
Het |
Auts2 |
G |
A |
5: 131,501,113 (GRCm39) |
T309M |
probably damaging |
Het |
C6 |
A |
T |
15: 4,789,350 (GRCm39) |
K265I |
probably benign |
Het |
Casz1 |
A |
G |
4: 149,036,312 (GRCm39) |
T1525A |
possibly damaging |
Het |
Cd200l1 |
T |
G |
16: 45,238,271 (GRCm39) |
H181P |
probably benign |
Het |
Chpf2 |
A |
G |
5: 24,796,829 (GRCm39) |
T592A |
probably benign |
Het |
Cilp |
A |
T |
9: 65,187,162 (GRCm39) |
T1086S |
probably benign |
Het |
Cmip |
A |
G |
8: 118,174,150 (GRCm39) |
Y410C |
possibly damaging |
Het |
Csmd3 |
A |
G |
15: 47,874,605 (GRCm39) |
C560R |
probably damaging |
Het |
Dchs1 |
T |
A |
7: 105,403,562 (GRCm39) |
E2993D |
probably benign |
Het |
Dnah7a |
A |
G |
1: 53,467,110 (GRCm39) |
F3585L |
probably damaging |
Het |
Dspp |
A |
G |
5: 104,325,272 (GRCm39) |
D545G |
unknown |
Het |
Dusp7 |
T |
A |
9: 106,247,965 (GRCm39) |
S198T |
possibly damaging |
Het |
Ell2 |
A |
T |
13: 75,917,693 (GRCm39) |
Q541L |
possibly damaging |
Het |
Fzd1 |
A |
T |
5: 4,805,865 (GRCm39) |
Y572* |
probably null |
Het |
Galntl6 |
T |
A |
8: 58,880,857 (GRCm39) |
I99F |
probably damaging |
Het |
Gnat3 |
G |
A |
5: 18,220,364 (GRCm39) |
|
probably null |
Het |
Hykk |
T |
C |
9: 54,853,800 (GRCm39) |
I374T |
probably benign |
Het |
Kcnd3 |
C |
T |
3: 105,566,082 (GRCm39) |
A421V |
probably damaging |
Het |
Kcnt2 |
A |
G |
1: 140,450,886 (GRCm39) |
I722V |
possibly damaging |
Het |
Krt1 |
C |
T |
15: 101,754,622 (GRCm39) |
G543S |
unknown |
Het |
Krt13 |
A |
G |
11: 100,012,050 (GRCm39) |
L91P |
possibly damaging |
Het |
Krtap4-13 |
A |
C |
11: 99,700,354 (GRCm39) |
S102A |
unknown |
Het |
Lrp2 |
A |
G |
2: 69,319,473 (GRCm39) |
|
probably null |
Het |
Lrriq1 |
C |
T |
10: 103,057,288 (GRCm39) |
V171I |
probably damaging |
Het |
Map3k4 |
C |
G |
17: 12,451,391 (GRCm39) |
E1501Q |
probably damaging |
Het |
Mapk11 |
C |
T |
15: 89,030,579 (GRCm39) |
V105M |
probably damaging |
Het |
Mlph |
G |
A |
1: 90,867,108 (GRCm39) |
A377T |
probably damaging |
Het |
Myo9a |
G |
A |
9: 59,776,947 (GRCm39) |
C1115Y |
probably benign |
Het |
Nabp1 |
A |
T |
1: 51,513,761 (GRCm39) |
Y78* |
probably null |
Het |
Nos2 |
T |
C |
11: 78,848,417 (GRCm39) |
F1108S |
possibly damaging |
Het |
Oas2 |
T |
C |
5: 120,871,546 (GRCm39) |
K699R |
probably benign |
Het |
Olfm5 |
T |
C |
7: 103,810,100 (GRCm39) |
D87G |
probably benign |
Het |
Oog3 |
A |
G |
4: 143,884,698 (GRCm39) |
F413L |
probably benign |
Het |
Or2c1 |
C |
T |
16: 3,656,951 (GRCm39) |
T38M |
probably damaging |
Het |
Pik3r4 |
A |
G |
9: 105,532,098 (GRCm39) |
M557V |
probably benign |
Het |
Pkhd1l1 |
A |
G |
15: 44,347,796 (GRCm39) |
T224A |
probably benign |
Het |
Pknox2 |
A |
G |
9: 36,805,709 (GRCm39) |
S367P |
probably benign |
Het |
Ppfia2 |
A |
G |
10: 106,671,905 (GRCm39) |
|
probably null |
Het |
Ppm1e |
G |
A |
11: 87,122,356 (GRCm39) |
P534S |
probably damaging |
Het |
Prepl |
T |
C |
17: 85,390,659 (GRCm39) |
T100A |
probably benign |
Het |
Ptpn13 |
A |
G |
5: 103,717,726 (GRCm39) |
N1924S |
possibly damaging |
Het |
Rsf1 |
ATGGCG |
ATGGCGACGGTGGCG |
7: 97,229,111 (GRCm39) |
|
probably benign |
Het |
Samd12 |
T |
A |
15: 53,583,067 (GRCm39) |
H89L |
possibly damaging |
Het |
Sephs1 |
T |
A |
2: 4,901,571 (GRCm39) |
V211E |
probably benign |
Het |
Setx |
C |
T |
2: 29,038,627 (GRCm39) |
T1704I |
probably benign |
Het |
Sltm |
T |
C |
9: 70,486,651 (GRCm39) |
S439P |
possibly damaging |
Het |
Sort1 |
G |
T |
3: 108,253,994 (GRCm39) |
Q553H |
probably damaging |
Het |
Svs5 |
G |
T |
2: 164,079,667 (GRCm39) |
T80N |
probably benign |
Het |
Tanc1 |
C |
A |
2: 59,626,179 (GRCm39) |
T512K |
probably damaging |
Het |
Tas2r139 |
T |
A |
6: 42,118,432 (GRCm39) |
V188E |
probably damaging |
Het |
Tesk2 |
C |
T |
4: 116,598,909 (GRCm39) |
R6W |
probably benign |
Het |
Tex101 |
G |
T |
7: 24,367,793 (GRCm39) |
C186* |
probably null |
Het |
Timp2 |
C |
T |
11: 118,194,598 (GRCm39) |
S197N |
probably benign |
Het |
Tmem37 |
A |
T |
1: 119,995,979 (GRCm39) |
C33S |
probably damaging |
Het |
Tmem69 |
T |
C |
4: 116,410,235 (GRCm39) |
D245G |
probably benign |
Het |
Trak1 |
G |
A |
9: 121,283,491 (GRCm39) |
R419Q |
probably benign |
Het |
Ube2j2 |
T |
A |
4: 156,039,715 (GRCm39) |
I14N |
probably damaging |
Het |
Ush2a |
T |
A |
1: 188,128,071 (GRCm39) |
N694K |
possibly damaging |
Het |
Utp20 |
A |
G |
10: 88,614,123 (GRCm39) |
V1277A |
probably damaging |
Het |
Vmn2r100 |
C |
T |
17: 19,752,216 (GRCm39) |
S753F |
probably damaging |
Het |
Vmn2r103 |
T |
C |
17: 20,013,958 (GRCm39) |
I250T |
probably benign |
Het |
Zdhhc6 |
A |
G |
19: 55,302,741 (GRCm39) |
W87R |
probably damaging |
Het |
Zfp410 |
A |
T |
12: 84,372,510 (GRCm39) |
D112V |
probably damaging |
Het |
Zfp462 |
T |
C |
4: 55,012,981 (GRCm39) |
F501S |
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 |
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 |
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'- TCCCTGGTCTATGGGAAAACTG -3'
(R):5'- TCCCAGTGTCACGTCTCAAC -3'
Sequencing Primer
(F):5'- ACCAAGTTTGACACGCTCTGG -3'
(R):5'- TCAACGCTGAGGTGCCAC -3'
|
Posted On |
2015-10-08 |