Incidental Mutation 'IGL01083:Tlk2'
ID52247
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Tlk2
Ensembl Gene ENSMUSG00000020694
Gene Nametousled-like kinase 2 (Arabidopsis)
Synonymsprotein kinase U-alpha, 4933403M19Rik, PKUalpha
Accession Numbers
Is this an essential gene? Possibly essential (E-score: 0.734) question?
Stock #IGL01083
Quality Score
Status
Chromosome11
Chromosomal Location105178807-105283959 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 105221224 bp
ZygosityHeterozygous
Amino Acid Change Cysteine to Serine at position 88 (C88S)
Ref Sequence ENSEMBL: ENSMUSP00000120944 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000015107] [ENSMUST00000092537] [ENSMUST00000106939] [ENSMUST00000106941] [ENSMUST00000126175] [ENSMUST00000145048]
Predicted Effect probably benign
Transcript: ENSMUST00000015107
AA Change: S102R

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000015107
Gene: ENSMUSG00000020694
AA Change: S102R

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: S134R

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000090198
Gene: ENSMUSG00000020694
AA Change: S134R

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: S102R

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000102552
Gene: ENSMUSG00000020694
AA Change: S102R

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: S134R

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000102554
Gene: ENSMUSG00000020694
AA Change: S134R

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 probably benign
Transcript: ENSMUST00000126175
AA Change: C88S

PolyPhen 2 Score 0.114 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000120944
Gene: ENSMUSG00000020694
AA Change: C88S

DomainStartEndE-ValueType
low complexity region 55 66 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000145048
AA Change: S102R

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000118520
Gene: ENSMUSG00000020694
AA Change: S102R

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: S82R
SMART Domains Protein: ENSMUSP00000123179
Gene: ENSMUSG00000020694
AA Change: S82R

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: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adcy8 T C 15: 64,787,342 D533G probably benign Het
Adgb A G 10: 10,407,554 V136A possibly damaging Het
Aggf1 A G 13: 95,356,409 V564A probably damaging Het
Atp1a2 T C 1: 172,284,619 T570A probably benign Het
B020004J07Rik T A 4: 101,835,532 M424L probably benign Het
Bicdl2 A G 17: 23,668,131 Q464R probably damaging Het
Cacng5 C T 11: 107,881,705 V106I probably benign Het
Chd8 C A 14: 52,221,420 R792L probably damaging Het
Crybg2 A T 4: 134,075,444 I844F possibly damaging Het
Dock4 G A 12: 40,788,381 probably benign Het
Ergic2 T C 6: 148,195,271 T166A probably benign Het
Flrt2 A T 12: 95,780,347 R486S probably benign Het
Flt3 T C 5: 147,354,870 Y590C probably damaging Het
Fubp1 A G 3: 152,222,234 E441G probably damaging Het
Gfpt1 A G 6: 87,054,696 S107G probably damaging Het
Klra9 A G 6: 130,189,766 L45P possibly damaging Het
Mfsd5 A G 15: 102,281,090 Y299C probably damaging Het
Myo5b T A 18: 74,733,903 probably benign Het
Obscn G A 11: 59,036,093 T5532M probably damaging Het
Olfr209 G A 16: 59,361,835 P128S probably damaging Het
Palld A G 8: 61,538,807 S165P probably benign Het
Prokr1 A T 6: 87,588,784 H26Q probably benign Het
Prrc2a G T 17: 35,156,201 R1158S possibly damaging Het
Rasgrp1 A G 2: 117,285,068 W680R probably benign Het
Ryr3 A G 2: 112,751,846 probably benign Het
Sars A G 3: 108,426,858 L528P probably damaging Het
Serpinb3b T A 1: 107,157,743 L89F possibly damaging Het
Slc38a6 T C 12: 73,288,493 V70A possibly damaging Het
Son G A 16: 91,657,391 E1009K probably damaging Het
Thoc3 A C 13: 54,467,820 probably benign Het
Tmem182 T A 1: 40,805,817 F21Y probably damaging Het
Tmem214 G A 5: 30,876,093 V557M probably benign Het
Zfp507 T C 7: 35,794,038 T527A probably benign Het
Other mutations in Tlk2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00815:Tlk2 APN 11 105246795 nonsense probably null
IGL00956:Tlk2 APN 11 105247592 missense probably benign 0.01
IGL02523:Tlk2 APN 11 105275947 missense probably damaging 0.99
IGL02694:Tlk2 APN 11 105221235 missense probably benign 0.19
H8786:Tlk2 UTSW 11 105254979 missense possibly damaging 0.93
PIT4378001:Tlk2 UTSW 11 105281220 missense unknown
R0310:Tlk2 UTSW 11 105254973 missense probably benign 0.15
R1457:Tlk2 UTSW 11 105256952 critical splice donor site probably null
R1505:Tlk2 UTSW 11 105260295 missense probably damaging 1.00
R1856:Tlk2 UTSW 11 105221298 missense probably benign 0.00
R2069:Tlk2 UTSW 11 105240440 missense probably benign 0.22
R2305:Tlk2 UTSW 11 105241591 missense possibly damaging 0.47
R2351:Tlk2 UTSW 11 105209830 missense probably damaging 1.00
R3724:Tlk2 UTSW 11 105247564 missense probably benign 0.01
R4607:Tlk2 UTSW 11 105255018 missense probably damaging 1.00
R4641:Tlk2 UTSW 11 105275983 missense probably benign 0.41
R4738:Tlk2 UTSW 11 105256882 missense probably benign 0.22
R4803:Tlk2 UTSW 11 105281100 missense probably damaging 1.00
R4957:Tlk2 UTSW 11 105253359 critical splice donor site probably null
R5407:Tlk2 UTSW 11 105240375 missense probably damaging 0.98
R5551:Tlk2 UTSW 11 105221307 missense probably benign 0.05
R6456:Tlk2 UTSW 11 105221273 missense probably benign 0.05
R6922:Tlk2 UTSW 11 105256953 critical splice donor site probably null
R7183:Tlk2 UTSW 11 105221359 splice site probably null
R7265:Tlk2 UTSW 11 105184244 nonsense probably null
Posted On2013-06-21