Incidental Mutation 'R5271:Zap70'
ID |
400255 |
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 |
042861-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.322)
|
Stock # |
R5271 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
1 |
Chromosomal Location |
36800879-36821899 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 36820446 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Aspartic acid
at position 547
(V547D)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000027291
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027291]
|
AlphaFold |
P43404 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000027291
AA Change: V547D
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000027291 Gene: ENSMUSG00000026117 AA Change: V547D
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 |
0.9460 |
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.3%
- 10x: 96.6%
- 20x: 93.6%
|
Validation Efficiency |
97% (65/67) |
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: 57 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700003H04Rik |
T |
C |
3: 124,373,496 (GRCm39) |
K33R |
possibly damaging |
Het |
4632415L05Rik |
C |
T |
3: 19,949,311 (GRCm39) |
|
noncoding transcript |
Het |
4930542C16Rik |
A |
C |
14: 24,665,598 (GRCm39) |
|
noncoding transcript |
Het |
Adprh |
A |
T |
16: 38,266,416 (GRCm39) |
L242* |
probably null |
Het |
Anapc1 |
G |
A |
2: 128,527,905 (GRCm39) |
Q18* |
probably null |
Het |
Bfar |
T |
C |
16: 13,510,261 (GRCm39) |
|
probably benign |
Het |
Bmp1 |
T |
C |
14: 70,745,568 (GRCm39) |
I206V |
probably benign |
Het |
Cc2d1b |
T |
A |
4: 108,480,826 (GRCm39) |
|
probably benign |
Het |
Clock |
A |
G |
5: 76,389,801 (GRCm39) |
I349T |
probably damaging |
Het |
Cox11 |
A |
G |
11: 90,534,558 (GRCm39) |
Y60C |
probably damaging |
Het |
Cyp1a1 |
G |
A |
9: 57,610,121 (GRCm39) |
V512M |
probably benign |
Het |
Dcdc2a |
T |
C |
13: 25,371,671 (GRCm39) |
F311S |
probably benign |
Het |
Dnase1l3 |
T |
C |
14: 7,993,843 (GRCm38) |
D48G |
probably damaging |
Het |
Engase |
G |
T |
11: 118,372,223 (GRCm39) |
A172S |
probably damaging |
Het |
F2 |
T |
C |
2: 91,465,466 (GRCm39) |
|
probably benign |
Het |
Galnt2l |
A |
G |
8: 122,997,872 (GRCm39) |
|
probably benign |
Het |
Gcc2 |
T |
C |
10: 58,105,517 (GRCm39) |
V215A |
possibly damaging |
Het |
Gm11677 |
C |
T |
11: 111,615,537 (GRCm39) |
|
noncoding transcript |
Het |
Gm20671 |
T |
C |
5: 32,977,303 (GRCm39) |
K1817R |
possibly damaging |
Het |
Gm20939 |
T |
A |
17: 95,184,583 (GRCm39) |
Y410* |
probably null |
Het |
Gm27013 |
T |
C |
6: 130,653,878 (GRCm39) |
Y528C |
probably damaging |
Het |
Il23r |
T |
C |
6: 67,400,680 (GRCm39) |
H550R |
probably benign |
Het |
Iqgap1 |
A |
T |
7: 80,383,896 (GRCm39) |
V1056E |
probably damaging |
Het |
Lrit3 |
T |
A |
3: 129,581,950 (GRCm39) |
Y679F |
probably damaging |
Het |
Megf8 |
A |
T |
7: 25,041,131 (GRCm39) |
E1120V |
probably damaging |
Het |
Mta1 |
A |
G |
12: 113,095,577 (GRCm39) |
E518G |
probably damaging |
Het |
Myo9a |
A |
G |
9: 59,814,665 (GRCm39) |
I2200M |
probably damaging |
Het |
Ncoa7 |
T |
C |
10: 30,598,725 (GRCm39) |
H66R |
probably benign |
Het |
Ncor1 |
A |
G |
11: 62,231,371 (GRCm39) |
V812A |
probably damaging |
Het |
Ndnf |
T |
C |
6: 65,680,650 (GRCm39) |
Y310H |
possibly damaging |
Het |
Ndst1 |
G |
A |
18: 60,838,204 (GRCm39) |
T347I |
probably benign |
Het |
Or10a3m |
T |
C |
7: 108,313,424 (GRCm39) |
L276S |
probably damaging |
Het |
Or4c15b |
A |
T |
2: 89,113,297 (GRCm39) |
F60Y |
probably benign |
Het |
Pcdhb10 |
C |
A |
18: 37,546,222 (GRCm39) |
Q433K |
probably benign |
Het |
Pcdhb18 |
G |
A |
18: 37,624,649 (GRCm39) |
V660M |
possibly damaging |
Het |
Pds5b |
T |
A |
5: 150,646,818 (GRCm39) |
N202K |
possibly damaging |
Het |
Pira12 |
A |
T |
7: 3,900,566 (GRCm39) |
Y61* |
probably null |
Het |
Polk |
T |
C |
13: 96,620,047 (GRCm39) |
S718G |
probably benign |
Het |
Ptpdc1 |
T |
C |
13: 48,744,174 (GRCm39) |
D149G |
probably damaging |
Het |
Rb1cc1 |
T |
A |
1: 6,319,417 (GRCm39) |
C35* |
probably null |
Het |
Samd9l |
C |
T |
6: 3,376,156 (GRCm39) |
M368I |
probably benign |
Het |
Shroom3 |
T |
C |
5: 93,110,107 (GRCm39) |
M1739T |
probably damaging |
Het |
Slc18a3 |
A |
G |
14: 32,185,705 (GRCm39) |
L226P |
probably damaging |
Het |
St7l |
A |
T |
3: 104,775,376 (GRCm39) |
Y84F |
probably damaging |
Het |
Svil |
A |
T |
18: 5,062,329 (GRCm39) |
N392I |
probably benign |
Het |
Syngr1 |
T |
A |
15: 79,982,240 (GRCm39) |
M9K |
probably benign |
Het |
Taar2 |
T |
C |
10: 23,816,930 (GRCm39) |
S157P |
probably damaging |
Het |
Tagap1 |
G |
T |
17: 7,223,495 (GRCm39) |
Y400* |
probably null |
Het |
Tbc1d8 |
T |
A |
1: 39,412,848 (GRCm39) |
E976V |
probably damaging |
Het |
Tmem163 |
G |
A |
1: 127,419,289 (GRCm39) |
|
probably benign |
Het |
Tnfaip2 |
A |
G |
12: 111,414,894 (GRCm39) |
|
probably benign |
Het |
Ttn |
C |
T |
2: 76,536,861 (GRCm39) |
S34988N |
possibly damaging |
Het |
Tubg1 |
T |
G |
11: 101,011,064 (GRCm39) |
N15K |
probably damaging |
Het |
Unc93a2 |
T |
C |
17: 7,637,081 (GRCm39) |
N149S |
possibly damaging |
Het |
Vmn2r129 |
G |
T |
4: 156,686,692 (GRCm39) |
|
noncoding transcript |
Het |
Zfp146 |
G |
T |
7: 29,861,900 (GRCm39) |
N47K |
probably benign |
Het |
Znrf1 |
T |
G |
8: 112,335,976 (GRCm39) |
M159R |
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 |
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'- CAGAGTGCATCAACTTTCGGAAG -3'
(R):5'- CTAAGGGTAAAGGTAGCGCTGC -3'
Sequencing Primer
(F):5'- AAGTTCTCCAGCCGCAGTGAC -3'
(R):5'- TAAAGGTAGCGCTGCCTGGG -3'
|
Posted On |
2016-07-06 |