Incidental Mutation 'R7760:Tlk2'
ID 597809
Institutional Source Beutler Lab
Gene Symbol Tlk2
Ensembl Gene ENSMUSG00000020694
Gene Name tousled-like kinase 2 (Arabidopsis)
Synonyms PKUalpha, protein kinase U-alpha, 4933403M19Rik
MMRRC Submission 045816-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.748) question?
Stock # R7760 (G1)
Quality Score 225.009
Status Validated
Chromosome 11
Chromosomal Location 105069633-105174785 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 105169993 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Threonine at position 674 (I674T)
Ref Sequence ENSEMBL: ENSMUSP00000102554 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000015107] [ENSMUST00000092537] [ENSMUST00000106939] [ENSMUST00000106941] [ENSMUST00000126175] [ENSMUST00000145048]
AlphaFold O55047
Predicted Effect probably damaging
Transcript: ENSMUST00000015107
AA Change: I642T

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000015107
Gene: ENSMUSG00000020694
AA Change: I642T

DomainStartEndE-ValueType
low complexity region 55 66 N/A INTRINSIC
low complexity region 102 113 N/A INTRINSIC
coiled coil region 202 237 N/A INTRINSIC
coiled coil region 285 314 N/A INTRINSIC
coiled coil region 355 393 N/A INTRINSIC
S_TKc 408 687 1.63e-78 SMART
low complexity region 696 717 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000092537
SMART Domains Protein: ENSMUSP00000090198
Gene: ENSMUSG00000020694

DomainStartEndE-ValueType
low complexity region 55 66 N/A INTRINSIC
low complexity region 92 106 N/A INTRINSIC
low complexity region 134 145 N/A INTRINSIC
coiled coil region 234 269 N/A INTRINSIC
coiled coil region 317 346 N/A INTRINSIC
coiled coil region 387 425 N/A INTRINSIC
Pfam:Pkinase 440 675 9.4e-52 PFAM
Pfam:Pkinase_Tyr 441 669 3.5e-32 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000106939
AA Change: I642T

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000102552
Gene: ENSMUSG00000020694
AA Change: I642T

DomainStartEndE-ValueType
low complexity region 55 66 N/A INTRINSIC
low complexity region 102 113 N/A INTRINSIC
coiled coil region 202 237 N/A INTRINSIC
coiled coil region 285 314 N/A INTRINSIC
coiled coil region 355 393 N/A INTRINSIC
S_TKc 408 687 1.63e-78 SMART
low complexity region 696 717 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000106941
AA Change: I674T

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000102554
Gene: ENSMUSG00000020694
AA Change: I674T

DomainStartEndE-ValueType
low complexity region 55 66 N/A INTRINSIC
low complexity region 92 106 N/A INTRINSIC
low complexity region 134 145 N/A INTRINSIC
coiled coil region 234 269 N/A INTRINSIC
coiled coil region 317 346 N/A INTRINSIC
coiled coil region 387 425 N/A INTRINSIC
S_TKc 440 719 1.63e-78 SMART
low complexity region 728 749 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000126175
SMART Domains Protein: ENSMUSP00000120944
Gene: ENSMUSG00000020694

DomainStartEndE-ValueType
low complexity region 55 66 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000145048
SMART Domains Protein: ENSMUSP00000118520
Gene: ENSMUSG00000020694

DomainStartEndE-ValueType
low complexity region 55 66 N/A INTRINSIC
low complexity region 102 113 N/A INTRINSIC
coiled coil region 170 205 N/A INTRINSIC
coiled coil region 253 282 N/A INTRINSIC
coiled coil region 323 361 N/A INTRINSIC
Pfam:Pkinase 376 611 2.4e-51 PFAM
Pfam:Pkinase_Tyr 377 605 8.5e-32 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.2%
Validation Efficiency 100% (55/55)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a nuclear serine/threonine kinase that was first identified in Arabidopsis. The encoded protein is thought to function in the regulation of chromatin assembly in the S phase of the cell cycle by regulating the levels of a histone H3/H4 chaperone. This protein is associated with double-strand break repair of DNA damage caused by radiation. Pseudogenes of this gene are present on chromosomes 10 and 17. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Sep 2013]
Allele List at MGI
Other mutations in this stock
Total: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Anxa11 C T 14: 25,873,251 (GRCm39) Q162* probably null Het
Arg1 T G 10: 24,803,361 (GRCm39) probably benign Het
Arl6 T C 16: 59,439,169 (GRCm39) D175G probably damaging Het
Capg A G 6: 72,534,769 (GRCm39) R199G probably damaging Het
Ceacam1 T A 7: 25,171,450 (GRCm39) E338V probably damaging Het
Clec4d A G 6: 123,247,300 (GRCm39) N148D probably benign Het
Ctr9 T G 7: 110,645,808 (GRCm39) I653R probably damaging Het
Dmwd C T 7: 18,814,660 (GRCm39) L437F probably damaging Het
Dnah7b T A 1: 46,240,413 (GRCm39) L1510Q probably damaging Het
Efcab5 T A 11: 77,042,752 (GRCm39) E136D probably benign Het
Elfn2 C T 15: 78,558,041 (GRCm39) A169T probably benign Het
Elp1 A G 4: 56,790,892 (GRCm39) V287A probably benign Het
Esrp2 T A 8: 106,860,102 (GRCm39) E326D probably benign Het
Fbrs T C 7: 127,088,572 (GRCm39) V718A probably damaging Het
Fbxl21 T C 13: 56,674,747 (GRCm39) S33P probably benign Het
Fbxl21 C T 13: 56,684,816 (GRCm39) R307C probably benign Het
Gatad2b C T 3: 90,261,776 (GRCm39) R461W probably damaging Het
Gm19410 T A 8: 36,269,491 (GRCm39) C1109S probably damaging Het
Gm6882 T A 7: 21,161,409 (GRCm39) D153V probably damaging Het
Golga3 A G 5: 110,353,716 (GRCm39) E918G probably benign Het
Greb1 T C 12: 16,773,417 (GRCm39) N219S probably benign Het
Grpel1 G T 5: 36,627,986 (GRCm39) R89L probably damaging Het
Ighv5-12 T A 12: 113,665,795 (GRCm39) Q101L probably benign Het
Ldb3 T A 14: 34,264,460 (GRCm39) N590I probably damaging Het
Man2c1 T C 9: 57,046,647 (GRCm39) V636A probably benign Het
Mblac2 G T 13: 81,859,996 (GRCm39) V117L probably benign Het
Muc6 T A 7: 141,237,322 (GRCm39) probably null Het
Nfatc3 A G 8: 106,834,973 (GRCm39) E773G possibly damaging Het
Ngef T C 1: 87,468,495 (GRCm39) D88G probably benign Het
Nipbl T C 15: 8,388,186 (GRCm39) E478G probably damaging Het
Or2t6 T C 14: 14,175,905 (GRCm38) Y59C probably damaging Het
Pbx4 C A 8: 70,285,445 (GRCm39) D29E probably benign Het
Pcdhgb5 A G 18: 37,864,690 (GRCm39) I162V not run Het
Pdcd11 G A 19: 47,101,637 (GRCm39) V941M possibly damaging Het
Pigr A T 1: 130,774,368 (GRCm39) R449S possibly damaging Het
Plcb2 T C 2: 118,541,869 (GRCm39) T914A probably benign Het
Ppp5c A G 7: 16,740,274 (GRCm39) S387P probably damaging Het
Rnf7l T C 10: 63,257,316 (GRCm39) K68R probably damaging Het
Rtkn2 T G 10: 67,841,439 (GRCm39) S196A probably damaging Het
Sec31a A G 5: 100,540,487 (GRCm39) F400L probably damaging Het
Senp7 A T 16: 55,959,442 (GRCm39) M251L probably benign Het
Slc6a5 T C 7: 49,596,365 (GRCm39) F612L probably benign Het
Slc7a9 T C 7: 35,156,500 (GRCm39) I314T possibly damaging Het
Smc5 A C 19: 23,213,254 (GRCm39) S553A probably benign Het
Spaca3 T A 11: 80,755,389 (GRCm39) V133D probably damaging Het
Taco1 T A 11: 105,963,938 (GRCm39) D232E possibly damaging Het
Tarbp1 C T 8: 127,179,546 (GRCm39) R664H not run Het
Tnxb A T 17: 34,931,911 (GRCm39) E2148V probably damaging Het
Tom1l2 T C 11: 60,165,791 (GRCm39) S59G probably benign Het
Traj46 A T 14: 54,409,813 (GRCm39) H7L Het
Traj46 T G 14: 54,409,814 (GRCm39) H7Q Het
Trav6-4 T A 14: 53,692,103 (GRCm39) L70Q possibly damaging Het
Trmt1l C T 1: 151,318,425 (GRCm39) T245I possibly damaging Het
Wac T A 18: 7,921,913 (GRCm39) C601S probably benign Het
Wnt3 T A 11: 103,702,266 (GRCm39) H145Q probably benign Het
Zfp948 T C 17: 21,808,628 (GRCm39) C607R probably damaging Het
Other mutations in Tlk2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00815:Tlk2 APN 11 105,137,621 (GRCm39) nonsense probably null
IGL00956:Tlk2 APN 11 105,138,418 (GRCm39) missense probably benign 0.01
IGL01083:Tlk2 APN 11 105,112,050 (GRCm39) missense probably benign 0.11
IGL02523:Tlk2 APN 11 105,166,773 (GRCm39) missense probably damaging 0.99
IGL02694:Tlk2 APN 11 105,112,061 (GRCm39) missense probably benign 0.19
H8786:Tlk2 UTSW 11 105,145,805 (GRCm39) missense possibly damaging 0.93
PIT4378001:Tlk2 UTSW 11 105,172,046 (GRCm39) missense unknown
R0310:Tlk2 UTSW 11 105,145,799 (GRCm39) missense probably benign 0.15
R1457:Tlk2 UTSW 11 105,147,778 (GRCm39) critical splice donor site probably null
R1505:Tlk2 UTSW 11 105,151,121 (GRCm39) missense probably damaging 1.00
R1856:Tlk2 UTSW 11 105,112,124 (GRCm39) missense probably benign 0.00
R2069:Tlk2 UTSW 11 105,131,266 (GRCm39) missense probably benign 0.22
R2305:Tlk2 UTSW 11 105,132,417 (GRCm39) missense possibly damaging 0.47
R2351:Tlk2 UTSW 11 105,100,656 (GRCm39) missense probably damaging 1.00
R3724:Tlk2 UTSW 11 105,138,390 (GRCm39) missense probably benign 0.01
R4607:Tlk2 UTSW 11 105,145,844 (GRCm39) missense probably damaging 1.00
R4641:Tlk2 UTSW 11 105,166,809 (GRCm39) missense probably benign 0.41
R4738:Tlk2 UTSW 11 105,147,708 (GRCm39) missense probably benign 0.22
R4803:Tlk2 UTSW 11 105,171,926 (GRCm39) missense probably damaging 1.00
R4957:Tlk2 UTSW 11 105,144,185 (GRCm39) critical splice donor site probably null
R5407:Tlk2 UTSW 11 105,131,201 (GRCm39) missense probably damaging 0.98
R5551:Tlk2 UTSW 11 105,112,133 (GRCm39) missense probably benign 0.05
R6456:Tlk2 UTSW 11 105,112,099 (GRCm39) missense probably benign 0.05
R6922:Tlk2 UTSW 11 105,147,779 (GRCm39) critical splice donor site probably null
R7183:Tlk2 UTSW 11 105,112,185 (GRCm39) splice site probably null
R7265:Tlk2 UTSW 11 105,075,070 (GRCm39) nonsense probably null
R7797:Tlk2 UTSW 11 105,101,444 (GRCm39) missense probably benign 0.00
R7823:Tlk2 UTSW 11 105,144,133 (GRCm39) missense probably damaging 1.00
R8786:Tlk2 UTSW 11 105,172,059 (GRCm39) missense unknown
R9287:Tlk2 UTSW 11 105,147,722 (GRCm39) missense probably benign 0.01
R9614:Tlk2 UTSW 11 105,138,328 (GRCm39) missense probably benign 0.27
R9659:Tlk2 UTSW 11 105,131,263 (GRCm39) missense probably benign
Z1177:Tlk2 UTSW 11 105,075,116 (GRCm39) missense probably benign 0.03
Predicted Primers PCR Primer
(F):5'- AGAGACAGCGGGCTTCTTTC -3'
(R):5'- GAACACTAATTTGTCCCATCCTG -3'

Sequencing Primer
(F):5'- AGAGAGGGTTTCTACTTCTCTGTCC -3'
(R):5'- CATCCTGCTGCTTAATAATGGC -3'
Posted On 2019-11-26