Incidental Mutation 'R0960:Zap70'
ID 81803
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 039089-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.322) question?
Stock # R0960 (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 36818254 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Histidine at position 314 (Y314H)
Ref Sequence ENSEMBL: ENSMUSP00000027291 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027291]
AlphaFold P43404
Predicted Effect probably damaging
Transcript: ENSMUST00000027291
AA Change: Y314H

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000027291
Gene: ENSMUSG00000026117
AA Change: Y314H

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 0.0775 question?
Coding Region Coverage
  • 1x: 99.5%
  • 3x: 99.0%
  • 10x: 97.8%
  • 20x: 96.0%
Validation Efficiency 98% (49/50)
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: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1810009A15Rik T C 19: 8,867,792 (GRCm39) V256A probably benign Het
4930433I11Rik A T 7: 40,642,480 (GRCm39) T141S probably benign Het
4930474N05Rik C A 14: 35,818,367 (GRCm39) H122N probably benign Het
Aamp T C 1: 74,320,304 (GRCm39) T341A possibly damaging Het
Adam26a A T 8: 44,021,800 (GRCm39) H563Q probably damaging Het
Ankrd13a G A 5: 114,924,868 (GRCm39) E118K probably benign Het
Asic5 A G 3: 81,913,847 (GRCm39) I174V probably benign Het
Atad2b G A 12: 5,056,593 (GRCm39) probably benign Het
Bub1b A G 2: 118,437,161 (GRCm39) I120V probably benign Het
Casp8 T C 1: 58,868,172 (GRCm39) probably null Het
Cdk5rap2 A G 4: 70,161,745 (GRCm39) Y254H probably benign Het
Clasp1 T C 1: 118,479,756 (GRCm39) I996T probably benign Het
Cntn6 A G 6: 104,751,441 (GRCm39) I294V probably benign Het
Flnc A G 6: 29,441,511 (GRCm39) D431G probably damaging Het
Gm4884 T A 7: 40,692,232 (GRCm39) M67K possibly damaging Het
Hmx3 T C 7: 131,145,043 (GRCm39) Y118H probably benign Het
Hsf2bp C T 17: 32,226,743 (GRCm39) R204H probably damaging Het
Il12b G T 11: 44,299,315 (GRCm39) C128F probably damaging Het
Ints6 T C 14: 62,947,015 (GRCm39) M317V probably benign Het
Iqca1 C A 1: 90,070,453 (GRCm39) G133V probably null Het
Kcnh2 C T 5: 24,527,670 (GRCm39) R894H probably damaging Het
Kif27 T C 13: 58,471,781 (GRCm39) E769G probably damaging Het
Kif28 G A 1: 179,523,370 (GRCm39) Q987* probably null Het
Klhdc3 T C 17: 46,987,444 (GRCm39) H330R possibly damaging Het
Leo1 G A 9: 75,352,522 (GRCm39) E22K probably benign Het
Lpcat2 C T 8: 93,596,338 (GRCm39) T125M probably benign Het
Map1a A G 2: 121,132,124 (GRCm39) Y742C probably benign Het
Mllt6 C T 11: 97,555,772 (GRCm39) probably benign Het
Mpp2 A G 11: 101,952,411 (GRCm39) V354A possibly damaging Het
Mroh2a C A 1: 88,170,142 (GRCm39) A685D possibly damaging Het
Myo10 A G 15: 25,801,275 (GRCm39) E1488G probably damaging Het
Neb A G 2: 52,102,995 (GRCm39) V4461A probably benign Het
Nudcd1 G T 15: 44,291,047 (GRCm39) probably benign Het
Or10ag59 T C 2: 87,406,279 (GRCm39) Y284H probably benign Het
Or2w1b A C 13: 21,300,435 (GRCm39) D191A possibly damaging Het
Pde1a G A 2: 79,695,378 (GRCm39) probably benign Het
Sdha A T 13: 74,471,303 (GRCm39) probably benign Het
Selenoo T G 15: 88,980,957 (GRCm39) I432S probably benign Het
Sh3gl2 A T 4: 85,295,717 (GRCm39) I140F probably damaging Het
Svopl G T 6: 37,993,992 (GRCm39) Y346* probably null Het
Tbc1d17 C T 7: 44,497,852 (GRCm39) probably benign Het
Tlr3 A C 8: 45,850,452 (GRCm39) I815S probably damaging Het
Tmem25 T A 9: 44,706,809 (GRCm39) probably null Het
Tpd52 A T 3: 9,008,650 (GRCm39) probably null Het
Tspoap1 A T 11: 87,661,421 (GRCm39) probably benign Het
Txndc11 A T 16: 10,909,453 (GRCm39) D364E probably benign Het
Unc5cl G T 17: 48,766,624 (GRCm39) probably benign Het
Vmn1r13 A G 6: 57,186,996 (GRCm39) M52V 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
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
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'- ACAGCAATGCTTAGTCATCACGCC -3'
(R):5'- TCTCAGTCAGAGACACCTTCCCAG -3'

Sequencing Primer
(F):5'- TGTATATCCTAGTGTATGCCACG -3'
(R):5'- ATAACTTCATAAGCCCTCCTAGTGG -3'
Posted On 2013-11-08