Incidental Mutation 'IGL03026:Zap70'
ID 408186
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 # IGL03026
Quality Score
Status
Chromosome 1
Chromosomal Location 36800879-36821899 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 36818798 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Arginine at position 371 (K371R)
Ref Sequence ENSEMBL: ENSMUSP00000027291 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027291]
AlphaFold P43404
Predicted Effect possibly damaging
Transcript: ENSMUST00000027291
AA Change: K371R

PolyPhen 2 Score 0.944 (Sensitivity: 0.80; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000027291
Gene: ENSMUSG00000026117
AA Change: K371R

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: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acly A G 11: 100,410,516 (GRCm39) V154A possibly damaging Het
Adcy4 T C 14: 56,015,467 (GRCm39) Y481C probably damaging Het
Adcy5 T C 16: 34,977,412 (GRCm39) V315A probably benign Het
Atf7ip G A 6: 136,582,380 (GRCm39) S1130N possibly damaging Het
Ctss A G 3: 95,446,141 (GRCm39) D87G probably benign Het
Cwf19l2 A T 9: 3,428,777 (GRCm39) K254N probably benign Het
Dnajc10 A G 2: 80,179,647 (GRCm39) D727G probably damaging Het
Dsg3 G A 18: 20,670,029 (GRCm39) probably null Het
Ehmt1 T C 2: 24,742,746 (GRCm39) M478V probably benign Het
Enam A T 5: 88,651,158 (GRCm39) N889I probably benign Het
Exo1 G T 1: 175,736,003 (GRCm39) *148L probably null Het
Fam133b G T 5: 3,609,646 (GRCm39) probably benign Het
Foxj2 G A 6: 122,815,139 (GRCm39) A392T probably benign Het
Gbp4 G T 5: 105,267,866 (GRCm39) A460E possibly damaging Het
H1f5 G A 13: 21,964,117 (GRCm39) probably benign Het
Has3 A T 8: 107,605,242 (GRCm39) I483F probably benign Het
Irak2 T A 6: 113,653,612 (GRCm39) V260E probably damaging Het
Kcnj8 T C 6: 142,512,199 (GRCm39) probably null Het
Lama5 A G 2: 179,837,760 (GRCm39) V936A probably benign Het
Lmo7 C T 14: 102,166,769 (GRCm39) probably benign Het
Morc3 T A 16: 93,659,612 (GRCm39) probably benign Het
Muc6 T C 7: 141,226,414 (GRCm39) probably benign Het
Nkx2-2 T C 2: 147,027,742 (GRCm39) Y66C probably damaging Het
Oaz1 G A 10: 80,664,634 (GRCm39) probably benign Het
Or2y1f A T 11: 49,184,285 (GRCm39) I46F probably damaging Het
Or6c38 G A 10: 128,929,057 (GRCm39) A262V possibly damaging Het
Or6c65 A T 10: 129,603,910 (GRCm39) M182L probably benign Het
Pkd2 A T 5: 104,642,753 (GRCm39) probably benign Het
Plcb4 A G 2: 135,792,349 (GRCm39) probably benign Het
Ralgapa2 C A 2: 146,302,695 (GRCm39) probably benign Het
Rfx7 T C 9: 72,526,967 (GRCm39) S1386P probably damaging Het
Ric1 T G 19: 29,577,233 (GRCm39) W1046G probably benign Het
Rrp12 C A 19: 41,861,436 (GRCm39) R957L probably damaging Het
Scn7a T C 2: 66,506,442 (GRCm39) I1482M probably damaging Het
Sema3b T C 9: 107,479,262 (GRCm39) N236S probably damaging Het
Skint6 T A 4: 112,848,441 (GRCm39) probably null Het
Slfn5 T C 11: 82,847,387 (GRCm39) Y91H probably benign Het
Sptbn2 T A 19: 4,774,261 (GRCm39) probably null Het
Szt2 A G 4: 118,249,046 (GRCm39) L546P probably benign Het
Tas1r3 A G 4: 155,946,300 (GRCm39) probably benign Het
Trim75 A G 8: 65,436,438 (GRCm39) V4A probably benign Het
Usp19 T C 9: 108,370,344 (GRCm39) L56P probably damaging Het
Vmn1r181 T G 7: 23,684,000 (GRCm39) I155S possibly damaging Het
Vmn2r43 G T 7: 8,258,096 (GRCm39) D372E probably benign Het
Vstm2b C A 7: 40,551,945 (GRCm39) S99* probably null Het
Wdr11 A G 7: 129,226,060 (GRCm39) D735G probably damaging Het
Wee2 T A 6: 40,438,915 (GRCm39) M346K probably benign Het
Zfp990 A T 4: 145,263,680 (GRCm39) H226L possibly 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
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 2016-08-02