Incidental Mutation 'IGL02337:Txk'
ID288887
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 #IGL02337
Quality Score
Status
Chromosome5
Chromosomal Location72695978-72752777 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 72707546 bp
ZygosityHeterozygous
Amino Acid Change Arginine to Glycine at position 329 (R329G)
Ref Sequence ENSEMBL: ENSMUSP00000143002 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000113604] [ENSMUST00000169534] [ENSMUST00000197313] [ENSMUST00000198464]
Predicted Effect possibly damaging
Transcript: ENSMUST00000113604
AA Change: R383G

PolyPhen 2 Score 0.945 (Sensitivity: 0.80; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000109234
Gene: ENSMUSG00000054892
AA Change: R383G

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 possibly damaging
Transcript: ENSMUST00000169534
AA Change: R383G

PolyPhen 2 Score 0.905 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000129397
Gene: ENSMUSG00000054892
AA Change: R383G

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: ENSMUST00000197313
AA Change: R361G

PolyPhen 2 Score 0.429 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000143476
Gene: ENSMUSG00000054892
AA Change: R361G

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 possibly damaging
Transcript: ENSMUST00000198464
AA Change: R329G

PolyPhen 2 Score 0.945 (Sensitivity: 0.80; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000143002
Gene: ENSMUSG00000054892
AA Change: R329G

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: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aaas A G 15: 102,339,227 V403A probably benign Het
Afm A G 5: 90,547,911 T426A probably benign Het
Atp8a2 T C 14: 59,998,002 D697G probably benign Het
Barhl1 G T 2: 28,911,419 S204R probably damaging Het
Ceacam11 T A 7: 17,973,625 S111R probably benign Het
Cenpe A G 3: 135,220,276 probably benign Het
Cnot11 G A 1: 39,544,883 probably benign Het
Ctc1 A G 11: 69,026,131 T284A probably damaging Het
Ephb3 A G 16: 21,221,503 probably null Het
Fsip1 T A 2: 118,251,714 K80* probably null Het
Gaa G T 11: 119,277,603 G220C probably damaging Het
Gna15 T C 10: 81,514,410 S53G probably damaging Het
Hfm1 A T 5: 106,904,267 M321K possibly damaging Het
Hgfac C A 5: 35,042,378 T68K probably benign Het
Hmgxb4 C T 8: 74,999,631 R35W probably damaging Het
Itfg2 T C 6: 128,413,570 D184G probably benign Het
Kirrel G A 3: 87,089,212 T360I possibly damaging Het
Lrp1 T C 10: 127,576,887 Q1240R possibly damaging Het
Lrrk1 G T 7: 66,279,416 T1156N possibly damaging Het
Olfm1 A G 2: 28,229,685 Y429C probably damaging Het
Olfr1093 T A 2: 86,786,174 M148K probably damaging Het
Olfr1283 T G 2: 111,369,151 V173G probably benign Het
Pafah1b2 C T 9: 45,972,989 V122I probably benign Het
Pdcd1 T C 1: 94,040,857 T151A probably benign Het
Pkd1l1 T C 11: 8,942,079 S697G probably damaging Het
Rgs12 T A 5: 35,020,353 F96I probably damaging Het
Sptbn4 T C 7: 27,428,247 D176G probably benign Het
Tarbp2 C A 15: 102,521,993 Q148K probably damaging Het
Unc79 T A 12: 103,156,446 probably benign Het
Vmn1r73 C A 7: 11,756,713 P153T possibly damaging Het
Zeb2 G A 2: 44,997,230 T605I probably damaging Het
Zfp654 A G 16: 64,785,149 S897P probably benign Het
Other mutations in Txk
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02602:Txk APN 5 72707720 missense possibly damaging 0.89
IGL03353:Txk APN 5 72736402 missense probably benign
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 On2015-04-16