Incidental Mutation 'IGL02337:Txk'
ID 288887
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Txk
Ensembl Gene ENSMUSG00000054892
Gene Name TXK tyrosine kinase
Synonyms PTK4, A130089B16Rik, Rlk, Btkl
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL02337
Quality Score
Status
Chromosome 5
Chromosomal Location 72853321-72910120 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 72864889 bp (GRCm39)
Zygosity Heterozygous
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]
AlphaFold P42682
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: 102,247,662 (GRCm39) V403A probably benign Het
Afm A G 5: 90,695,770 (GRCm39) T426A probably benign Het
Atp8a2 T C 14: 60,235,451 (GRCm39) D697G probably benign Het
Barhl1 G T 2: 28,801,431 (GRCm39) S204R probably damaging Het
Ceacam11 T A 7: 17,707,550 (GRCm39) S111R probably benign Het
Cenpe A G 3: 134,926,037 (GRCm39) probably benign Het
Cnot11 G A 1: 39,583,964 (GRCm39) probably benign Het
Ctc1 A G 11: 68,916,957 (GRCm39) T284A probably damaging Het
Ephb3 A G 16: 21,040,253 (GRCm39) probably null Het
Fsip1 T A 2: 118,082,195 (GRCm39) K80* probably null Het
Gaa G T 11: 119,168,429 (GRCm39) G220C probably damaging Het
Gna15 T C 10: 81,350,244 (GRCm39) S53G probably damaging Het
Hfm1 A T 5: 107,052,133 (GRCm39) M321K possibly damaging Het
Hgfac C A 5: 35,199,722 (GRCm39) T68K probably benign Het
Hmgxb4 C T 8: 75,726,259 (GRCm39) R35W probably damaging Het
Itfg2 T C 6: 128,390,533 (GRCm39) D184G probably benign Het
Kirrel1 G A 3: 86,996,519 (GRCm39) T360I possibly damaging Het
Lrp1 T C 10: 127,412,756 (GRCm39) Q1240R possibly damaging Het
Lrrk1 G T 7: 65,929,164 (GRCm39) T1156N possibly damaging Het
Olfm1 A G 2: 28,119,697 (GRCm39) Y429C probably damaging Het
Or4k77 T G 2: 111,199,496 (GRCm39) V173G probably benign Het
Or5t5 T A 2: 86,616,518 (GRCm39) M148K probably damaging Het
Pafah1b2 C T 9: 45,884,287 (GRCm39) V122I probably benign Het
Pdcd1 T C 1: 93,968,582 (GRCm39) T151A probably benign Het
Pkd1l1 T C 11: 8,892,079 (GRCm39) S697G probably damaging Het
Rgs12 T A 5: 35,177,697 (GRCm39) F96I probably damaging Het
Sptbn4 T C 7: 27,127,672 (GRCm39) D176G probably benign Het
Tarbp2 C A 15: 102,430,428 (GRCm39) Q148K probably damaging Het
Unc79 T A 12: 103,122,705 (GRCm39) probably benign Het
Vmn1r73 C A 7: 11,490,640 (GRCm39) P153T possibly damaging Het
Zeb2 G A 2: 44,887,242 (GRCm39) T605I probably damaging Het
Zfp654 A G 16: 64,605,512 (GRCm39) S897P probably benign Het
Other mutations in Txk
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02602:Txk APN 5 72,865,063 (GRCm39) missense possibly damaging 0.89
IGL03353:Txk APN 5 72,893,745 (GRCm39) missense probably benign
BB007:Txk UTSW 5 72,892,536 (GRCm39) missense probably damaging 1.00
BB017:Txk UTSW 5 72,892,536 (GRCm39) missense probably damaging 1.00
R0402:Txk UTSW 5 72,889,105 (GRCm39) critical splice donor site probably null
R1509:Txk UTSW 5 72,856,453 (GRCm39) missense probably damaging 1.00
R1511:Txk UTSW 5 72,865,014 (GRCm39) missense probably damaging 1.00
R1785:Txk UTSW 5 72,853,922 (GRCm39) missense probably damaging 1.00
R1786:Txk UTSW 5 72,853,922 (GRCm39) missense probably damaging 1.00
R2131:Txk UTSW 5 72,853,922 (GRCm39) missense probably damaging 1.00
R2913:Txk UTSW 5 72,881,794 (GRCm39) missense probably damaging 1.00
R2914:Txk UTSW 5 72,881,794 (GRCm39) missense probably damaging 1.00
R3722:Txk UTSW 5 72,865,078 (GRCm39) nonsense probably null
R4080:Txk UTSW 5 72,858,006 (GRCm39) missense probably damaging 1.00
R5341:Txk UTSW 5 72,853,964 (GRCm39) missense probably benign 0.08
R5580:Txk UTSW 5 72,864,932 (GRCm39) missense probably damaging 1.00
R6155:Txk UTSW 5 72,858,069 (GRCm39) missense probably damaging 1.00
R6310:Txk UTSW 5 72,893,760 (GRCm39) missense probably benign 0.01
R6382:Txk UTSW 5 72,893,823 (GRCm39) intron probably benign
R6938:Txk UTSW 5 72,856,492 (GRCm39) missense probably damaging 0.99
R7225:Txk UTSW 5 72,858,057 (GRCm39) missense probably damaging 1.00
R7327:Txk UTSW 5 72,873,226 (GRCm39) missense probably damaging 0.98
R7337:Txk UTSW 5 72,889,109 (GRCm39) nonsense probably null
R7436:Txk UTSW 5 72,853,922 (GRCm39) missense probably damaging 1.00
R7510:Txk UTSW 5 72,893,726 (GRCm39) missense unknown
R7709:Txk UTSW 5 72,864,918 (GRCm39) missense probably damaging 1.00
R7725:Txk UTSW 5 72,864,900 (GRCm39) missense probably damaging 0.96
R7930:Txk UTSW 5 72,892,536 (GRCm39) missense probably damaging 1.00
R8124:Txk UTSW 5 72,860,606 (GRCm39) splice site probably null
R8531:Txk UTSW 5 72,893,720 (GRCm39) missense possibly damaging 0.73
R8754:Txk UTSW 5 72,889,122 (GRCm39) missense probably damaging 1.00
R8901:Txk UTSW 5 72,858,050 (GRCm39) missense probably damaging 1.00
R9245:Txk UTSW 5 72,891,610 (GRCm39) missense probably damaging 1.00
Z1176:Txk UTSW 5 72,892,554 (GRCm39) missense unknown
Posted On 2015-04-16