Incidental Mutation 'R2913:Txk'
ID 254744
Institutional Source Beutler Lab
Gene Symbol Txk
Ensembl Gene ENSMUSG00000054892
Gene Name TXK tyrosine kinase
Synonyms PTK4, A130089B16Rik, Rlk, Btkl
MMRRC Submission 040500-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R2913 (G1)
Quality Score 225
Status Validated
Chromosome 5
Chromosomal Location 72853321-72910120 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 72881794 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Serine at position 154 (N154S)
Ref Sequence ENSEMBL: ENSMUSP00000129397 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000113604] [ENSMUST00000169534] [ENSMUST00000197313] [ENSMUST00000198464]
AlphaFold P42682
Predicted Effect probably damaging
Transcript: ENSMUST00000113604
AA Change: N154S

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000109234
Gene: ENSMUSG00000054892
AA Change: N154S

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 damaging
Transcript: ENSMUST00000169534
AA Change: N154S

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000129397
Gene: ENSMUSG00000054892
AA Change: N154S

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: ENSMUST00000197313
AA Change: N132S

PolyPhen 2 Score 0.778 (Sensitivity: 0.85; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000143476
Gene: ENSMUSG00000054892
AA Change: N132S

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: N100S

PolyPhen 2 Score 0.767 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000143002
Gene: ENSMUSG00000054892
AA Change: N100S

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: ENSMUST00000198684
Predicted Effect noncoding transcript
Transcript: ENSMUST00000198970
Predicted Effect noncoding transcript
Transcript: ENSMUST00000198798
Meta Mutation Damage Score 0.1066 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.5%
  • 20x: 95.7%
Validation Efficiency 100% (58/58)
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: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acap2 T C 16: 30,934,887 (GRCm39) Q357R probably damaging Het
Adap1 C T 5: 139,260,576 (GRCm39) probably null Het
Adgrf3 A G 5: 30,401,992 (GRCm39) S679P probably damaging Het
Aldh3b1 T C 19: 3,971,275 (GRCm39) probably benign Het
Arih2 A G 9: 108,521,275 (GRCm39) S68P probably damaging Het
Cdcp3 T C 7: 130,783,753 (GRCm39) S49P possibly damaging Het
Col1a2 C T 6: 4,519,923 (GRCm39) probably benign Het
Cplane1 T C 15: 8,300,169 (GRCm39) S3159P unknown Het
Crocc C T 4: 140,747,661 (GRCm39) R1496H probably damaging Het
Cryl1 T C 14: 57,513,375 (GRCm39) E282G probably benign Het
Cyp11b1 T C 15: 74,708,270 (GRCm39) T402A probably damaging Het
Etfa C A 9: 55,389,613 (GRCm39) A254S probably damaging Het
Fcgbpl1 A T 7: 27,863,732 (GRCm39) L2501F probably damaging Het
Fdxacb1 C T 9: 50,679,699 (GRCm39) A39V probably benign Het
Fras1 G A 5: 96,881,774 (GRCm39) R2502K probably benign Het
Gpr157 G A 4: 150,183,222 (GRCm39) V131I probably benign Het
Hbb-bh1 C T 7: 103,492,254 (GRCm39) E22K possibly damaging Het
Hmcn2 A G 2: 31,350,222 (GRCm39) T5040A possibly damaging Het
Hprt1 T C X: 52,109,016 (GRCm39) Y174H probably damaging Het
Igsf10 T A 3: 59,239,157 (GRCm39) L341F possibly damaging Het
Ints1 A G 5: 139,743,668 (GRCm39) S1592P possibly damaging Het
Itgam T C 7: 127,711,578 (GRCm39) I641T probably damaging Het
Macf1 T A 4: 123,369,704 (GRCm39) I121F probably damaging Het
Mapk3 T A 7: 126,359,978 (GRCm39) C19* probably null Het
Mapk4 C T 18: 74,068,236 (GRCm39) A232T probably benign Het
Med26 T G 8: 73,249,956 (GRCm39) K381T possibly damaging Het
Mki67 T C 7: 135,302,415 (GRCm39) E873G possibly damaging Het
Mrgpra9 T C 7: 46,884,828 (GRCm39) I280V probably benign Het
Mroh9 T C 1: 162,871,572 (GRCm39) Y637C probably damaging Het
Nktr T C 9: 121,578,670 (GRCm39) probably benign Het
Or4c11 A T 2: 88,695,458 (GRCm39) N170Y probably benign Het
Or5j3 A G 2: 86,128,733 (GRCm39) D191G probably damaging Het
Pam A C 1: 97,850,854 (GRCm39) L168R probably damaging Het
Pikfyve G A 1: 65,292,676 (GRCm39) V1376M probably damaging Het
Pomt2 A T 12: 87,175,743 (GRCm39) N400K probably damaging Het
Pramel13 T C 4: 144,119,304 (GRCm39) E421G probably damaging Het
Rbm45 C T 2: 76,205,798 (GRCm39) P217S probably benign Het
Rc3h2 A G 2: 37,268,971 (GRCm39) S832P possibly damaging Het
Ric3 A G 7: 108,653,660 (GRCm39) F144L possibly damaging Het
Rrh G T 3: 129,609,258 (GRCm39) A83E probably damaging Het
Rspo2 T A 15: 42,941,510 (GRCm39) T138S probably benign Het
Skint5 A G 4: 113,381,289 (GRCm39) probably benign Het
Snx29 C T 16: 11,265,317 (GRCm39) R516W probably damaging Het
Spata31d1d T C 13: 59,874,769 (GRCm39) E922G possibly damaging Het
Spc25 T C 2: 69,030,331 (GRCm39) H104R probably benign Het
Sptssa A T 12: 54,703,267 (GRCm39) M1K probably null Het
Srrm2 G T 17: 24,034,658 (GRCm39) probably benign Het
Tcof1 T C 18: 60,949,156 (GRCm39) D1253G possibly damaging Het
Tmem181c-ps A G 17: 6,888,608 (GRCm39) noncoding transcript Het
Tmprss15 T C 16: 78,759,078 (GRCm39) N880S probably benign Het
Trio T A 15: 27,854,998 (GRCm39) Q728L probably damaging Het
Vwf T A 6: 125,662,809 (GRCm39) V2731E probably benign Het
Yes1 T C 5: 32,797,926 (GRCm39) S82P probably benign Het
Zgrf1 T C 3: 127,392,356 (GRCm39) V1292A possibly damaging Het
Other mutations in Txk
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02337:Txk APN 5 72,864,889 (GRCm39) missense possibly damaging 0.94
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
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
Predicted Primers PCR Primer
(F):5'- TTTCTGAAATGATGAAGGCAGTCAG -3'
(R):5'- ACTTCATGGGCCAGAAGAGG -3'

Sequencing Primer
(F):5'- GGTGATCTTATGAAGACACATCAG -3'
(R):5'- GGGATGTGAGCTATGGTAGAATAATC -3'
Posted On 2014-12-29