Incidental Mutation 'R3689:Zap70'
ID 269645
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 040684-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.322) question?
Stock # R3689 (G1)
Quality Score 225
Status Validated
Chromosome 1
Chromosomal Location 36800879-36821899 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 36820493 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Arginine at position 563 (C563R)
Ref Sequence ENSEMBL: ENSMUSP00000027291 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027291]
AlphaFold P43404
Predicted Effect probably damaging
Transcript: ENSMUST00000027291
AA Change: C563R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000027291
Gene: ENSMUSG00000026117
AA Change: C563R

DomainStartEndE-ValueType
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 0.9708 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.2%
Validation Efficiency 100% (53/53)
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: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adcy2 A T 13: 68,779,088 (GRCm39) L984Q probably damaging Het
Atg16l1 T C 1: 87,713,626 (GRCm39) V427A probably damaging Het
Bclaf1 C T 10: 20,201,143 (GRCm39) T423I possibly damaging Het
Blm G C 7: 80,162,827 (GRCm39) P175A possibly damaging Het
Bpifb1 A G 2: 154,051,819 (GRCm39) D208G probably benign Het
Cdc42ep1 T C 15: 78,731,629 (GRCm39) S25P probably benign Het
Cep162 G A 9: 87,107,747 (GRCm39) Q548* probably null Het
Chchd10 T C 10: 75,771,835 (GRCm39) probably benign Het
Cog3 T C 14: 75,991,878 (GRCm39) M1V probably null Het
Dcx T C X: 142,660,240 (GRCm39) E268G possibly damaging Het
Erich2 T C 2: 70,371,097 (GRCm39) V419A unknown Het
Fam53c A G 18: 34,903,886 (GRCm39) D386G probably damaging Het
Fgd2 A G 17: 29,597,924 (GRCm39) T620A probably benign Het
G930045G22Rik A T 6: 50,823,535 (GRCm39) noncoding transcript Het
Grpel1 G A 5: 36,626,769 (GRCm39) probably null Het
Map3k15 T A X: 158,905,568 (GRCm39) N1295K possibly damaging Het
Mideas C T 12: 84,203,245 (GRCm39) G886S probably benign Het
Mrpl44 T A 1: 79,757,366 (GRCm39) Y270* probably null Het
Mtss1 A G 15: 58,825,385 (GRCm39) S272P probably damaging Het
Myo9b G A 8: 71,786,981 (GRCm39) R721Q probably benign Het
N4bp1 C T 8: 87,587,184 (GRCm39) D585N probably damaging Het
Napb T C 2: 148,544,977 (GRCm39) probably null Het
Nexmif A T X: 103,131,213 (GRCm39) Y235N probably damaging Het
Niban1 A G 1: 151,579,447 (GRCm39) probably null Het
Nms T C 1: 38,986,075 (GRCm39) probably benign Het
Nsun2 A G 13: 69,760,456 (GRCm39) N45D probably damaging Het
Or4c116 T A 2: 88,942,386 (GRCm39) I157L possibly damaging Het
Pak6 C T 2: 118,523,921 (GRCm39) Q359* probably null Het
Pcdhb12 C T 18: 37,569,127 (GRCm39) A91V probably benign Het
Pde11a T A 2: 76,121,510 (GRCm39) K357I probably damaging Het
Piwil4 T C 9: 14,637,259 (GRCm39) T352A probably damaging Het
Plscr1l1 A C 9: 92,234,673 (GRCm39) N60T probably damaging Het
Sec31a T A 5: 100,530,766 (GRCm39) D239V probably damaging Het
Slc13a4 T C 6: 35,245,845 (GRCm39) N600S possibly damaging Het
Smc1b T A 15: 85,001,464 (GRCm39) probably benign Het
Spatc1 A T 15: 76,152,495 (GRCm39) K42* probably null Het
Sprr2j-ps A G 3: 92,326,290 (GRCm39) H55R probably benign Het
Srsf9 A G 5: 115,465,387 (GRCm39) D7G probably benign Het
Stt3a T C 9: 36,670,618 (GRCm39) Y51C probably damaging Het
Taf5 A G 19: 47,067,224 (GRCm39) K519E probably damaging Het
Taf7l A T X: 133,365,074 (GRCm39) I449K probably damaging Het
Tnk1 C A 11: 69,746,425 (GRCm39) D263Y probably damaging Het
Ttc21b T A 2: 66,054,488 (GRCm39) I714F probably benign Het
Ttn C G 2: 76,629,588 (GRCm39) W14284C probably damaging Het
Txn1 T C 4: 57,950,846 (GRCm39) D61G probably benign Het
Ugcg T C 4: 59,211,883 (GRCm39) V83A probably benign Het
Ulk3 T C 9: 57,501,077 (GRCm39) V348A probably benign Het
Wdr93 A G 7: 79,421,333 (GRCm39) T409A possibly damaging Het
Wfikkn1 A G 17: 26,097,692 (GRCm39) C211R probably damaging Het
Zc3h12c C T 9: 52,027,256 (GRCm39) R721H probably benign Het
Zfp169 A G 13: 48,660,377 (GRCm39) probably benign Het
Other mutations in Zap70
AlleleSourceChrCoordTypePredicted EffectPPH 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
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'- CCTTCTCCTATGGCCAGAAG -3'
(R):5'- TGTTGGGAAGCCAAGCACAG -3'

Sequencing Primer
(F):5'- GCCAGAAGCCCTACAAGGTAG -3'
(R):5'- AAGAAGCCGGGTGTGACTCTG -3'
Posted On 2015-02-19