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) question?
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

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
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
GeneRefVarChr/LocMutationPredicted EffectZygosity
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
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
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