Incidental Mutation 'IGL02602:Txk'
ID300121
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 #IGL02602
Quality Score
Status
Chromosome5
Chromosomal Location72695978-72752777 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 72707720 bp
ZygosityHeterozygous
Amino Acid Change Arginine to Glycine at position 271 (R271G)
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: R325G

PolyPhen 2 Score 0.889 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000109234
Gene: ENSMUSG00000054892
AA Change: R325G

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: R325G

PolyPhen 2 Score 0.889 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000129397
Gene: ENSMUSG00000054892
AA Change: R325G

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: R303G

PolyPhen 2 Score 0.288 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000143476
Gene: ENSMUSG00000054892
AA Change: R303G

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: R271G

PolyPhen 2 Score 0.889 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000143002
Gene: ENSMUSG00000054892
AA Change: R271G

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: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acsf2 A G 11: 94,570,465 probably benign Het
Arhgap20 A T 9: 51,825,843 I148F probably damaging Het
Arhgef10 C T 8: 14,930,198 A146V probably benign Het
Cdk13 A G 13: 17,727,160 F997L probably damaging Het
Cep162 G A 9: 87,246,153 H170Y probably benign Het
Clasp1 T C 1: 118,471,785 F220L probably damaging Het
Clock C A 5: 76,254,426 G129V probably null Het
Clock C T 5: 76,254,427 G129R probably damaging Het
Cybrd1 T C 2: 71,118,148 L10P probably damaging Het
Cyp7a1 A G 4: 6,272,871 I114T possibly damaging Het
Epha7 T A 4: 28,871,877 V402D possibly damaging Het
Fam228a G A 12: 4,732,808 T95I probably benign Het
Gm7589 C T 9: 59,146,158 noncoding transcript Het
Klf4 C A 4: 55,530,595 R172L probably damaging Het
Macf1 A G 4: 123,355,163 S7190P probably damaging Het
Mga A G 2: 119,931,884 T1119A possibly damaging Het
Nmur2 T A 11: 56,027,063 T367S probably benign Het
Ogfr A G 2: 180,595,437 D605G possibly damaging Het
Olfr1314 A G 2: 112,092,561 F47L probably benign Het
Pcdhb1 A T 18: 37,266,796 N600I probably damaging Het
Pkhd1l1 T C 15: 44,557,931 S3032P probably damaging Het
Ppp2r5e A G 12: 75,493,439 L144P probably damaging Het
Rnf123 G A 9: 108,068,302 R390* probably null Het
Ryr2 T C 13: 11,554,511 probably benign Het
Scarb2 A G 5: 92,448,556 Y410H probably benign Het
Slc12a1 A G 2: 125,154,242 Y105C probably damaging Het
Srrm1 G A 4: 135,325,104 P658L unknown Het
Stt3b A T 9: 115,276,778 S210T probably damaging Het
Sulf2 T C 2: 166,081,300 H635R probably benign Het
Tmem167 C A 13: 90,104,380 R52S probably damaging Het
Tsga13 G A 6: 30,902,277 T167I possibly damaging Het
Vmn1r191 T C 13: 22,179,465 K40E probably damaging Het
Vmn1r69 T A 7: 10,579,974 N277Y probably benign Het
Other mutations in Txk
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02337:Txk APN 5 72707546 missense possibly damaging 0.94
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
Z1176:Txk UTSW 5 72735211 missense unknown
Posted On2015-04-16