Incidental Mutation 'IGL02694:Tlk2'
ID 303866
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Tlk2
Ensembl Gene ENSMUSG00000020694
Gene Name tousled-like kinase 2 (Arabidopsis)
Synonyms PKUalpha, protein kinase U-alpha, 4933403M19Rik
Accession Numbers
Essential gene? Possibly essential (E-score: 0.748) question?
Stock # IGL02694
Quality Score
Status
Chromosome 11
Chromosomal Location 105069633-105174785 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 105112061 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 138 (E138G)
Ref Sequence ENSEMBL: ENSMUSP00000090198 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000015107] [ENSMUST00000092537] [ENSMUST00000106939] [ENSMUST00000106941] [ENSMUST00000126175] [ENSMUST00000145048]
AlphaFold O55047
Predicted Effect probably benign
Transcript: ENSMUST00000015107
AA Change: E106G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000015107
Gene: ENSMUSG00000020694
AA Change: E106G

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
AA Change: E138G

PolyPhen 2 Score 0.187 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000090198
Gene: ENSMUSG00000020694
AA Change: E138G

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 benign
Transcript: ENSMUST00000106939
AA Change: E106G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000102552
Gene: ENSMUSG00000020694
AA Change: E106G

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: ENSMUST00000106941
AA Change: E138G

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
SMART Domains Protein: ENSMUSP00000102554
Gene: ENSMUSG00000020694
AA Change: E138G

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 noncoding transcript
Transcript: ENSMUST00000123050
Predicted Effect silent
Transcript: ENSMUST00000126175
SMART Domains Protein: ENSMUSP00000120944
Gene: ENSMUSG00000020694

DomainStartEndE-ValueType
low complexity region 55 66 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000145048
AA Change: E106G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000118520
Gene: ENSMUSG00000020694
AA Change: E106G

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
Predicted Effect unknown
Transcript: ENSMUST00000152404
AA Change: E86G
SMART Domains Protein: ENSMUSP00000123179
Gene: ENSMUSG00000020694
AA Change: E86G

DomainStartEndE-ValueType
low complexity region 4 15 N/A INTRINSIC
low complexity region 41 55 N/A INTRINSIC
low complexity region 83 94 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
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: 26 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acer3 A G 7: 97,866,084 (GRCm39) I213T probably benign Het
Alox8 T A 11: 69,077,455 (GRCm39) T432S probably damaging Het
Col4a3 T C 1: 82,688,515 (GRCm39) probably benign Het
Cyp2c54 A G 19: 40,035,987 (GRCm39) Y308H possibly damaging Het
Dscam A G 16: 96,394,476 (GRCm39) V1942A probably benign Het
F11 T C 8: 45,705,196 (GRCm39) Y115C probably damaging Het
Fam13b A G 18: 34,584,259 (GRCm39) probably null Het
Gykl1 A G 18: 52,827,257 (GRCm39) H155R probably benign Het
Lmo7 T A 14: 102,124,606 (GRCm39) V355D probably damaging Het
Lrtm2 T A 6: 119,297,846 (GRCm39) D65V possibly damaging Het
Ly6g6f C T 17: 35,300,144 (GRCm39) V235M possibly damaging Het
Mlxipl G A 5: 135,152,872 (GRCm39) probably null Het
Or11j4 A G 14: 50,630,257 (GRCm39) I15V probably benign Het
Or13a20 A G 7: 140,232,093 (GRCm39) N67S probably damaging Het
Or14a256 C T 7: 86,265,518 (GRCm39) V112I probably benign Het
Ppp2r1a A G 17: 21,171,702 (GRCm39) probably benign Het
Psmb2 A G 4: 126,603,351 (GRCm39) N193S probably benign Het
Rassf2 A T 2: 131,851,641 (GRCm39) Y34N possibly damaging Het
Ryr2 A G 13: 11,620,075 (GRCm39) F3841L probably damaging Het
Skint2 A G 4: 112,473,792 (GRCm39) probably benign Het
Spdl1 T C 11: 34,704,448 (GRCm39) I462V probably benign Het
Spopfm1 A G 3: 94,173,459 (GRCm39) M152V probably benign Het
Vmn1r89 A G 7: 12,954,056 (GRCm39) E196G probably benign Het
Zfp142 A G 1: 74,609,307 (GRCm39) L1496P probably damaging Het
Zfp689 T C 7: 127,047,573 (GRCm39) D94G possibly damaging Het
Zfp944 A G 17: 22,558,899 (GRCm39) V116A probably benign 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
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
R7760:Tlk2 UTSW 11 105,169,993 (GRCm39) missense probably damaging 1.00
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
Posted On 2015-04-16