Incidental Mutation 'IGL01918:Zap70'
ID 180012
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Zap70
Ensembl Gene ENSMUSG00000026117
Gene Name zeta-chain (TCR) associated protein kinase
Synonyms ZAP-70, TZK, Srk
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.322) question?
Stock # IGL01918
Quality Score
Status
Chromosome 1
Chromosomal Location 36800879-36821899 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 36817868 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Histidine at position 290 (Y290H)
Ref Sequence ENSEMBL: ENSMUSP00000027291 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027291]
AlphaFold P43404
Predicted Effect possibly damaging
Transcript: ENSMUST00000027291
AA Change: Y290H

PolyPhen 2 Score 0.641 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000027291
Gene: ENSMUSG00000026117
AA Change: Y290H

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
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: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933421I07Rik T C 7: 42,097,098 (GRCm39) Q71R probably benign Het
Ankfy1 T C 11: 72,631,281 (GRCm39) V409A probably benign Het
Ap4m1 A G 5: 138,171,106 (GRCm39) T69A probably damaging Het
B3gat2 A T 1: 23,884,209 (GRCm39) K306* probably null Het
Calr A G 8: 85,569,479 (GRCm39) probably benign Het
Ccdc54 C T 16: 50,411,215 (GRCm39) W17* probably null Het
Cd68 T C 11: 69,555,927 (GRCm39) S204G possibly damaging Het
Cep128 A T 12: 91,200,984 (GRCm39) I342K probably damaging Het
Ces1d T A 8: 93,904,703 (GRCm39) I346L probably benign Het
Cfap70 T A 14: 20,475,467 (GRCm39) D418V possibly damaging Het
Cntnap4 A T 8: 113,478,866 (GRCm39) R197S possibly damaging Het
Ddx31 G T 2: 28,764,176 (GRCm39) V461F probably damaging Het
Eps15l1 T C 8: 73,121,756 (GRCm39) M714V possibly damaging Het
Fshb A T 2: 106,889,272 (GRCm39) F11I probably benign Het
Fsip2 T G 2: 82,822,482 (GRCm39) C6072G possibly damaging Het
Fuz T G 7: 44,546,383 (GRCm39) L93R probably damaging Het
Gm10718 A T 9: 3,025,118 (GRCm39) Y194F probably benign Het
Gm21738 G A 14: 19,416,979 (GRCm38) S144L probably benign Het
Gm8991 G A 5: 16,935,678 (GRCm39) noncoding transcript Het
Itga11 C A 9: 62,680,278 (GRCm39) N973K probably benign Het
Lca5 T A 9: 83,305,201 (GRCm39) T202S probably damaging Het
Lrp1 G A 10: 127,390,458 (GRCm39) L3053F probably damaging Het
Mapk13 T C 17: 28,994,304 (GRCm39) Y129H probably damaging Het
Mast1 T A 8: 85,647,838 (GRCm39) H512L probably damaging Het
Mlip T C 9: 77,081,281 (GRCm39) N213S probably damaging Het
Mtcl1 C T 17: 66,675,263 (GRCm39) G734R possibly damaging Het
Myo9a T A 9: 59,686,985 (GRCm39) I30N probably damaging Het
Or4b13 A G 2: 90,082,675 (GRCm39) I219T probably damaging Het
Pctp T C 11: 89,878,162 (GRCm39) D124G probably benign Het
Phc3 A G 3: 30,968,565 (GRCm39) probably null Het
Plat T A 8: 23,270,453 (GRCm39) F457I possibly damaging Het
Snw1 T C 12: 87,502,438 (GRCm39) K319E probably benign Het
Sox8 A G 17: 25,789,111 (GRCm39) L129P probably damaging Het
Sp140l2 A G 1: 85,231,907 (GRCm39) probably benign Het
Stc1 A T 14: 69,269,103 (GRCm39) probably benign Het
Szt2 A G 4: 118,241,450 (GRCm39) probably benign Het
Tmem81 T A 1: 132,435,698 (GRCm39) V168D probably damaging Het
Ttc41 C A 10: 86,549,054 (GRCm39) Q83K probably damaging Het
Ugt1a5 T C 1: 88,094,267 (GRCm39) V165A probably damaging Het
Vmn2r129 C T 4: 156,690,549 (GRCm39) noncoding transcript Het
Vps33b A G 7: 79,937,560 (GRCm39) probably null 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
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
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
Posted On 2014-05-07