Incidental Mutation 'IGL02164:Zap70'
ID282602
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Zap70
Ensembl Gene ENSMUSG00000026117
Gene Namezeta-chain (TCR) associated protein kinase
SynonymsZAP-70, TZK, Srk
Accession Numbers

Genbank: NM_009539; MGI: 99613

 

Is this an essential gene? Probably non essential (E-score: 0.197) question?
Stock #IGL02164
Quality Score
Status
Chromosome1
Chromosomal Location36761798-36782818 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 36771186 bp
ZygosityHeterozygous
Amino Acid Change Tyrosine to Histidine at position 126 (Y126H)
Ref Sequence ENSEMBL: ENSMUSP00000027291 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027291] [ENSMUST00000185871]
Predicted Effect probably damaging
Transcript: ENSMUST00000027291
AA Change: Y126H

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000027291
Gene: ENSMUSG00000026117
AA Change: Y126H

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 probably benign
Transcript: ENSMUST00000185871
SMART Domains Protein: ENSMUSP00000139990
Gene: ENSMUSG00000026117

DomainStartEndE-ValueType
SH2 8 85 1.9e-16 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000186624
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: 76 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700024P04Rik T C 13: 98,984,207 K104E probably damaging Het
4930578C19Rik T A X: 18,418,953 R421* probably null Het
5730480H06Rik T A 5: 48,380,182 V187E probably benign Het
Abcc12 T A 8: 86,527,404 D917V probably damaging Het
Abhd15 A T 11: 77,516,014 E272D probably benign Het
Adat3 T A 10: 80,606,627 S100T probably benign Het
Adgrg6 T C 10: 14,523,555 probably benign Het
Alpl C T 4: 137,753,979 V121M probably damaging Het
Ano1 A T 7: 144,637,181 Y388N possibly damaging Het
Arrdc4 C T 7: 68,739,537 probably benign Het
Asxl2 A G 12: 3,502,079 M1274V probably benign Het
BC048403 A G 10: 121,750,770 Y194C probably damaging Het
Bmt2 G T 6: 13,628,879 N268K possibly damaging Het
Bpifb2 C A 2: 153,883,562 L176M probably damaging Het
Brd8 C T 18: 34,602,727 S899N probably damaging Het
Cd14 T C 18: 36,725,785 R206G possibly damaging Het
Cfap65 G T 1: 74,928,145 T215K possibly damaging Het
Chd9 T C 8: 90,933,221 S270P possibly damaging Het
Cidea C T 18: 67,366,511 S156L probably damaging Het
Col5a3 A G 9: 20,792,643 probably null Het
Cspg5 T C 9: 110,251,036 V424A probably damaging Het
Ctc1 A G 11: 69,026,096 H272R probably damaging Het
D5Ertd579e A T 5: 36,614,959 S697R probably damaging Het
Dennd3 T C 15: 73,544,448 S516P probably benign Het
Dlgap4 G A 2: 156,711,139 R509H probably damaging Het
Dus3l T C 17: 56,767,943 probably benign Het
Dync1h1 G T 12: 110,662,559 W4183C probably damaging Het
Eif2s3x A T X: 94,205,072 M152K possibly damaging Het
Epb41l1 C T 2: 156,494,949 probably benign Het
Ephx2 A G 14: 66,103,720 probably benign Het
Fabp12 T A 3: 10,246,015 Y129F probably damaging Het
Fat3 A G 9: 16,031,424 probably benign Het
Fat4 T C 3: 38,996,205 probably null Het
Gnb1 T A 4: 155,557,174 probably null Het
Gpr107 C A 2: 31,178,286 Y253* probably null Het
Grb10 C T 11: 11,943,962 E320K probably damaging Het
Gucy2g G T 19: 55,238,023 H154N probably benign Het
Hemk1 T A 9: 107,331,536 H154L probably benign Het
Hk2 A T 6: 82,743,939 probably null Het
Htr5a A G 5: 27,842,465 N6S probably damaging Het
Htra3 T C 5: 35,653,066 D424G probably benign Het
Ift52 A G 2: 163,025,464 probably null Het
Igdcc4 A G 9: 65,124,782 probably benign Het
Itpr1 A G 6: 108,389,483 K124E probably benign Het
Kcnc2 T A 10: 112,455,685 N259K possibly damaging Het
Lmod2 A T 6: 24,603,910 I295F possibly damaging Het
Lrp1 T C 10: 127,563,667 E2324G probably benign Het
Lss T C 10: 76,536,260 S150P probably damaging Het
Macf1 T C 4: 123,480,272 N1515S probably benign Het
Mapk11 T C 15: 89,145,448 probably null Het
Mc3r T A 2: 172,249,394 F179I probably damaging Het
Mtmr9 T A 14: 63,530,288 N291Y probably damaging Het
Myo1h T C 5: 114,334,096 F396L probably damaging Het
Nek2 A G 1: 191,827,304 K307R probably benign Het
Olfr102 C A 17: 37,313,687 M232I probably benign Het
Osmr G A 15: 6,842,048 T296I probably damaging Het
Pcdhb11 T G 18: 37,423,359 S581A probably benign Het
Pfkp C T 13: 6,597,915 V542M probably damaging Het
Pmpca C T 2: 26,395,569 S519L probably benign Het
Ptgds A T 2: 25,469,112 Y44N probably damaging Het
Raly T A 2: 154,859,929 Y116* probably null Het
Rock2 A G 12: 16,965,529 D809G probably damaging Het
Sgsm2 T G 11: 74,865,416 N369T possibly damaging Het
Slc6a15 A G 10: 103,418,222 D673G probably benign Het
Spire2 A T 8: 123,332,964 D67V probably damaging Het
St7l T C 3: 104,922,281 probably null Het
Stau2 A G 1: 16,345,828 L469P probably damaging Het
Tefm A G 11: 80,140,089 L107S probably damaging Het
Ticam1 A T 17: 56,270,019 V692D unknown Het
Tipin T A 9: 64,294,349 D143E probably damaging Het
Tmem132c C A 5: 127,536,377 T448K probably damaging Het
Trav8-1 A T 14: 53,469,756 M1L unknown Het
Ttn C A 2: 76,738,797 V27251F probably damaging Het
Uvrag A T 7: 99,004,689 C31* probably null Het
Zfp644 A G 5: 106,638,099 V194A probably benign Het
Zfp663 C T 2: 165,359,048 W22* probably null Het
Other mutations in Zap70
AlleleSourceChrCoordTypePredicted EffectPPH Score
mrtless APN 1 36781149 missense probably damaging 1.00
murdock APN 1 36779704 missense probably damaging 0.99
IGL00763:Zap70 APN 1 36779252 missense possibly damaging 0.81
IGL01635:Zap70 APN 1 36771157 missense probably damaging 0.99
IGL01918:Zap70 APN 1 36778787 missense possibly damaging 0.64
IGL02502:Zap70 APN 1 36778806 splice site probably benign
IGL02597:Zap70 APN 1 36771920 nonsense probably null
IGL03026:Zap70 APN 1 36779717 missense possibly damaging 0.94
biscayne UTSW 1 36781412 missense probably damaging 1.00
mesa_verde UTSW 1 36779173 missense probably damaging 1.00
trebia UTSW 1 36781025 missense probably damaging 1.00
wanna UTSW 1 36770983 missense probably damaging 1.00
wanna2 UTSW 1 36781412 missense probably damaging 1.00
wanna3 UTSW 1 36778218 missense probably damaging 0.99
wanna4 UTSW 1 36781365 missense probably damaging 1.00
want_to UTSW 1 36782517 missense probably damaging 1.00
waterfowl UTSW 1 36770811 start codon destroyed probably null 0.03
zipper UTSW 1 36770902 missense probably benign 0.09
PIT1430001:Zap70 UTSW 1 36779169 missense possibly damaging 0.95
R0487:Zap70 UTSW 1 36779284 missense probably damaging 1.00
R0701:Zap70 UTSW 1 36781177 missense probably damaging 1.00
R0960:Zap70 UTSW 1 36779173 missense probably damaging 1.00
R1520:Zap70 UTSW 1 36770955 missense probably damaging 1.00
R2064:Zap70 UTSW 1 36779134 missense probably benign
R3623:Zap70 UTSW 1 36779135 missense probably benign 0.03
R3689:Zap70 UTSW 1 36781412 missense probably damaging 1.00
R3690:Zap70 UTSW 1 36781412 missense probably damaging 1.00
R3804:Zap70 UTSW 1 36771142 missense possibly damaging 0.58
R3840:Zap70 UTSW 1 36778417 missense probably damaging 1.00
R4260:Zap70 UTSW 1 36779108 splice site probably benign
R4383:Zap70 UTSW 1 36780961 missense probably damaging 1.00
R4632:Zap70 UTSW 1 36778458 missense probably benign
R4783:Zap70 UTSW 1 36779173 missense probably damaging 1.00
R5051:Zap70 UTSW 1 36781451 missense probably benign 0.00
R5271:Zap70 UTSW 1 36781365 missense probably damaging 1.00
R5304:Zap70 UTSW 1 36778218 missense probably damaging 0.99
R5792:Zap70 UTSW 1 36779009 intron probably benign
R5932:Zap70 UTSW 1 36781146 missense probably damaging 1.00
R5941:Zap70 UTSW 1 36770949 missense probably damaging 1.00
R6694:Zap70 UTSW 1 36782517 missense probably damaging 1.00
R6825:Zap70 UTSW 1 36778390 missense probably damaging 1.00
R7039:Zap70 UTSW 1 36778751 missense probably benign
R7704:Zap70 UTSW 1 36779314 critical splice donor site probably null
R7769:Zap70 UTSW 1 36770902 missense probably benign 0.09
R8115:Zap70 UTSW 1 36781206 missense probably damaging 1.00
R8140:Zap70 UTSW 1 36771181 missense possibly damaging 0.89
R8289:Zap70 UTSW 1 36781137 missense probably damaging 1.00
S24628:Zap70 UTSW 1 36770811 start codon destroyed probably null 0.03
Z1176:Zap70 UTSW 1 36779176 nonsense probably null
Posted On2015-04-16