Incidental Mutation 'IGL03353:Txk'
ID419810
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Txk
Ensembl Gene ENSMUSG00000054892
Gene NameTXK tyrosine kinase
SynonymsA130089B16Rik, PTK4, Btkl, Rlk
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL03353
Quality Score
Status
Chromosome5
Chromosomal Location72695978-72752777 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 72736402 bp
ZygosityHeterozygous
Amino Acid Change Valine to Isoleucine at position 12 (V12I)
Ref Sequence ENSEMBL: ENSMUSP00000129397 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000113604] [ENSMUST00000169534] [ENSMUST00000197313] [ENSMUST00000198464]
Predicted Effect unknown
Transcript: ENSMUST00000113604
AA Change: V12I
SMART Domains Protein: ENSMUSP00000109234
Gene: ENSMUSG00000054892
AA Change: V12I

DomainStartEndE-ValueType
low complexity region 8 28 N/A INTRINSIC
low complexity region 72 81 N/A INTRINSIC
SH3 85 141 9.99e-17 SMART
SH2 148 237 8.27e-34 SMART
TyrKc 271 520 2.52e-134 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000169534
AA Change: V12I

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000129397
Gene: ENSMUSG00000054892
AA Change: V12I

DomainStartEndE-ValueType
low complexity region 8 28 N/A INTRINSIC
low complexity region 72 81 N/A INTRINSIC
SH3 85 141 9.99e-17 SMART
SH2 148 237 8.27e-34 SMART
TyrKc 271 520 2.52e-134 SMART
Predicted Effect unknown
Transcript: ENSMUST00000197313
AA Change: V12I
SMART Domains Protein: ENSMUSP00000143476
Gene: ENSMUSG00000054892
AA Change: V12I

DomainStartEndE-ValueType
low complexity region 8 28 N/A INTRINSIC
low complexity region 72 81 N/A INTRINSIC
SH3 85 138 1.2e-9 SMART
SH2 126 215 3.1e-35 SMART
TyrKc 249 498 1.2e-136 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000197843
Predicted Effect probably benign
Transcript: ENSMUST00000198464
SMART Domains Protein: ENSMUSP00000143002
Gene: ENSMUSG00000054892

DomainStartEndE-ValueType
low complexity region 18 27 N/A INTRINSIC
SH3 31 87 6.3e-19 SMART
SH2 94 183 5.4e-36 SMART
TyrKc 217 466 1.2e-136 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000198798
Predicted Effect noncoding transcript
Transcript: ENSMUST00000198970
Coding Region Coverage
Validation Efficiency
MGI Phenotype PHENOTYPE: Homozygous mutation of this gene results in increased susceptibility to parasitic (Toxoplasma gondii) infection and decreased cytokine secretion in stimulated splenocytes. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aco1 A G 4: 40,175,893 I176V probably damaging Het
Aldh1l2 T C 10: 83,522,913 T73A probably benign Het
Btaf1 G T 19: 36,992,500 L1191F probably damaging Het
Caskin1 G A 17: 24,499,357 probably benign Het
Clcn3 T C 8: 60,922,988 T624A probably benign Het
Dicer1 A G 12: 104,713,107 V537A probably damaging Het
Dock4 A G 12: 40,817,758 probably null Het
Dsp A T 13: 38,186,695 Y858F probably damaging Het
Eya1 A G 1: 14,179,527 Y550H probably damaging Het
Frmpd1 A G 4: 45,261,926 K204E probably damaging Het
Frrs1l G A 4: 56,968,121 T217M probably damaging Het
Fsip2 G A 2: 82,977,393 S1352N possibly damaging Het
Hfm1 T C 5: 106,856,929 D1177G probably damaging Het
Itih4 G A 14: 30,887,844 V44I probably damaging Het
Kif2c A G 4: 117,166,336 M393T probably benign Het
Klhdc10 T A 6: 30,447,992 probably benign Het
Lrch1 G T 14: 74,858,042 H119Q probably damaging Het
Ncam2 A T 16: 81,434,900 N84I probably benign Het
Nlrx1 A G 9: 44,256,593 V669A probably benign Het
Pdcl3 A G 1: 38,995,836 N158S probably benign Het
Polk C T 13: 96,489,211 A362T probably damaging Het
Rnf40 T A 7: 127,592,891 L403* probably null Het
Skint5 T C 4: 113,742,182 D720G unknown Het
Snx6 A G 12: 54,765,684 probably benign Het
St6galnac2 A T 11: 116,690,302 probably benign Het
Stk26 A T X: 50,870,398 D62V probably damaging Het
Tgds G A 14: 118,127,507 Q101* probably null Het
Tmem135 C A 7: 89,141,953 R421L probably damaging Het
Tspyl4 T A 10: 34,298,139 V209E probably damaging Het
Tulp2 C A 7: 45,516,272 P98Q probably damaging Het
Usp30 A G 5: 114,121,058 T398A probably benign Het
Vmn1r8 A G 6: 57,036,791 T276A probably benign Het
Xdh G A 17: 73,895,786 A1123V possibly damaging Het
Zfp60 T A 7: 27,748,334 Y142* probably null Het
Other mutations in Txk
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02337:Txk APN 5 72707546 missense possibly damaging 0.94
IGL02602:Txk APN 5 72707720 missense possibly damaging 0.89
BB007:Txk UTSW 5 72735193 missense probably damaging 1.00
BB017:Txk UTSW 5 72735193 missense probably damaging 1.00
R0402:Txk UTSW 5 72731762 critical splice donor site probably null
R1509:Txk UTSW 5 72699110 missense probably damaging 1.00
R1511:Txk UTSW 5 72707671 missense probably damaging 1.00
R1785:Txk UTSW 5 72696579 missense probably damaging 1.00
R1786:Txk UTSW 5 72696579 missense probably damaging 1.00
R2131:Txk UTSW 5 72696579 missense probably damaging 1.00
R2913:Txk UTSW 5 72724451 missense probably damaging 1.00
R2914:Txk UTSW 5 72724451 missense probably damaging 1.00
R3722:Txk UTSW 5 72707735 nonsense probably null
R4080:Txk UTSW 5 72700663 missense probably damaging 1.00
R5341:Txk UTSW 5 72696621 missense probably benign 0.08
R5580:Txk UTSW 5 72707589 missense probably damaging 1.00
R6155:Txk UTSW 5 72700726 missense probably damaging 1.00
R6310:Txk UTSW 5 72736417 missense probably benign 0.01
R6382:Txk UTSW 5 72736480 intron probably benign
R6938:Txk UTSW 5 72699149 missense probably damaging 0.99
R7225:Txk UTSW 5 72700714 missense probably damaging 1.00
R7327:Txk UTSW 5 72715883 missense probably damaging 0.98
R7337:Txk UTSW 5 72731766 nonsense probably null
R7436:Txk UTSW 5 72696579 missense probably damaging 1.00
R7510:Txk UTSW 5 72736383 missense unknown
R7709:Txk UTSW 5 72707575 missense probably damaging 1.00
R7725:Txk UTSW 5 72707557 missense probably damaging 0.96
R7930:Txk UTSW 5 72735193 missense probably damaging 1.00
R8124:Txk UTSW 5 72703263 splice site probably null
Z1176:Txk UTSW 5 72735211 missense unknown
Posted On2016-08-02