Incidental Mutation 'R7225:Txk'
ID 562085
Institutional Source Beutler Lab
Gene Symbol Txk
Ensembl Gene ENSMUSG00000054892
Gene Name TXK tyrosine kinase
Synonyms PTK4, A130089B16Rik, Rlk, Btkl
MMRRC Submission 045297-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7225 (G1)
Quality Score 225.009
Status Validated
Chromosome 5
Chromosomal Location 72853321-72910120 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 72858057 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Asparagine at position 418 (D418N)
Ref Sequence ENSEMBL: ENSMUSP00000109234 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000113604] [ENSMUST00000169534] [ENSMUST00000197313] [ENSMUST00000198464]
AlphaFold P42682
Predicted Effect probably damaging
Transcript: ENSMUST00000113604
AA Change: D418N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000109234
Gene: ENSMUSG00000054892
AA Change: D418N

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: D418N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000129397
Gene: ENSMUSG00000054892
AA Change: D418N

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: D396N

PolyPhen 2 Score 0.932 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000143476
Gene: ENSMUSG00000054892
AA Change: D396N

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 probably damaging
Transcript: ENSMUST00000198464
AA Change: D364N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000143002
Gene: ENSMUSG00000054892
AA Change: D364N

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency 98% (62/63)
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: 64 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700001K19Rik T C 12: 110,637,299 (GRCm39) probably benign Het
5730480H06Rik T A 5: 48,537,575 (GRCm39) probably null Het
Actn4 A T 7: 28,598,124 (GRCm39) V492D probably damaging Het
Alpk2 T C 18: 65,438,270 (GRCm39) E1041G probably benign Het
Asap1 G A 15: 64,002,099 (GRCm39) T404M probably damaging Het
Cd22 C T 7: 30,577,059 (GRCm39) A83T not run Het
Cdan1 T C 2: 120,555,393 (GRCm39) T783A probably benign Het
Cdh9 C T 15: 16,856,159 (GRCm39) S733F probably damaging Het
Cfap54 A G 10: 92,740,236 (GRCm39) F2282S unknown Het
Chst9 T C 18: 15,585,718 (GRCm39) K282E probably damaging Het
Clcn1 G A 6: 42,270,396 (GRCm39) D232N probably damaging Het
Clpb T A 7: 101,360,672 (GRCm39) L234Q probably damaging Het
Cluh T G 11: 74,557,232 (GRCm39) probably null Het
Cnp C T 11: 100,471,413 (GRCm39) Q352* probably null Het
Cyfip1 AGTGT AGT 7: 55,577,937 (GRCm39) probably null Het
Dtx3 C T 10: 127,027,358 (GRCm39) C272Y probably damaging Het
Dync2h1 A G 9: 7,142,756 (GRCm39) I1156T probably benign Het
Epg5 T A 18: 78,055,917 (GRCm39) V1697E probably benign Het
Exoc3l4 A G 12: 111,390,058 (GRCm39) D211G probably benign Het
Fank1 A G 7: 133,454,988 (GRCm39) K36R probably benign Het
Fat4 T C 3: 39,034,325 (GRCm39) I2659T possibly damaging Het
Fer1l5 T C 1: 36,460,033 (GRCm39) W1893R possibly damaging Het
Gorasp2 T A 2: 70,514,391 (GRCm39) L256Q probably damaging Het
Gpc5 T G 14: 115,789,710 (GRCm39) V528G probably damaging Het
Gria2 T A 3: 80,709,938 (GRCm39) probably benign Het
Htatip2 A G 7: 49,420,604 (GRCm39) E150G possibly damaging Het
Jak3 C A 8: 72,138,155 (GRCm39) Q869K probably benign Het
Jmjd1c T C 10: 67,061,844 (GRCm39) V1218A probably benign Het
Kcnf1 A G 12: 17,225,694 (GRCm39) C176R possibly damaging Het
Kcnq4 A G 4: 120,604,111 (GRCm39) V88A probably benign Het
Lmod3 T A 6: 97,224,345 (GRCm39) D492V probably benign Het
Lurap1l A C 4: 80,829,718 (GRCm39) S43R probably benign Het
Mamdc4 T C 2: 25,455,558 (GRCm39) H890R possibly damaging Het
Mertk T G 2: 128,643,482 (GRCm39) N960K possibly damaging Het
Nudt9 C A 5: 104,212,966 (GRCm39) D346E probably benign Het
Obi1 T C 14: 104,717,294 (GRCm39) T360A probably benign Het
Opa1 A G 16: 29,432,857 (GRCm39) probably null Het
Or5an1 A T 19: 12,260,831 (GRCm39) T140S probably benign Het
Oxr1 C T 15: 41,677,004 (GRCm39) P187L not run Het
Paxbp1 T C 16: 90,823,956 (GRCm39) E564G probably damaging Het
Pcdhb13 C T 18: 37,577,490 (GRCm39) R623C possibly damaging Het
Pkhd1l1 G T 15: 44,410,337 (GRCm39) V2615F probably damaging Het
Plin3 T C 17: 56,593,541 (GRCm39) T58A possibly damaging Het
Por A G 5: 135,761,441 (GRCm39) D309G probably benign Het
Ppp2r5e T C 12: 75,515,353 (GRCm39) K261R probably damaging Het
Ptpn18 C T 1: 34,511,927 (GRCm39) T366I possibly damaging Het
Ptprz1 G A 6: 23,000,928 (GRCm39) G1006E possibly damaging Het
Rpl12 C T 2: 32,851,909 (GRCm39) probably benign Het
Rpsa T G 9: 119,960,222 (GRCm39) F262V probably benign Het
Sh3pxd2a G T 19: 47,255,828 (GRCm39) N991K probably damaging Het
Shank2 T A 7: 143,838,762 (GRCm39) N19K probably benign Het
Sik1 T C 17: 32,073,274 (GRCm39) T61A probably benign Het
Sipa1l3 A C 7: 29,098,853 (GRCm39) V472G probably damaging Het
Sirt6 A G 10: 81,458,315 (GRCm39) S313P probably benign Het
Slc12a7 A G 13: 73,912,081 (GRCm39) probably benign Het
Sox13 A T 1: 133,314,862 (GRCm39) V266E probably benign Het
Spag9 T C 11: 93,988,184 (GRCm39) C833R probably damaging Het
Tcof1 T C 18: 60,961,520 (GRCm39) T812A unknown Het
Tnfsf4 A G 1: 161,244,821 (GRCm39) D170G possibly damaging Het
Tshz3 A G 7: 36,469,082 (GRCm39) N357S probably damaging Het
Ube2j2 A G 4: 156,033,773 (GRCm39) probably null Het
Vmn2r84 G A 10: 130,222,552 (GRCm39) P556L probably damaging Het
Zfp1007 T C 5: 109,825,015 (GRCm39) H145R possibly damaging Het
Zfp442 T C 2: 150,250,925 (GRCm39) N326D probably benign 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
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
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'- CAGGGCTATACAGAGAAACCCTG -3'
(R):5'- ACCTGGTTCTAGAGGAGAAAAC -3'

Sequencing Primer
(F):5'- GGCTATACAGAGAAACCCTGTCTTG -3'
(R):5'- GGCTGTTTTAGCAGATCC -3'
Posted On 2019-06-26