Incidental Mutation 'IGL03024:Tlk1'
ID408091
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Tlk1
Ensembl Gene ENSMUSG00000041997
Gene Nametousled-like kinase 1
Synonyms4930545J15Rik
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL03024
Quality Score
Status
Chromosome2
Chromosomal Location70712407-70825728 bp(-) (GRCm38)
Type of Mutationnonsense
DNA Base Change (assembly) A to T at 70746036 bp
ZygosityHeterozygous
Amino Acid Change Cysteine to Stop codon at position 247 (C247*)
Ref Sequence ENSEMBL: ENSMUSP00000035961 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000038584]
Predicted Effect probably null
Transcript: ENSMUST00000038584
AA Change: C247*
SMART Domains Protein: ENSMUSP00000035961
Gene: ENSMUSG00000041997
AA Change: C247*

DomainStartEndE-ValueType
low complexity region 20 33 N/A INTRINSIC
low complexity region 68 85 N/A INTRINSIC
low complexity region 170 192 N/A INTRINSIC
coiled coil region 248 277 N/A INTRINSIC
coiled coil region 403 441 N/A INTRINSIC
S_TKc 456 734 4.41e-75 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000124629
Predicted Effect noncoding transcript
Transcript: ENSMUST00000132542
Predicted Effect noncoding transcript
Transcript: ENSMUST00000133734
Predicted Effect noncoding transcript
Transcript: ENSMUST00000135128
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a serine/threonine kinase that may be involved in the regulation of chromatin assembly. The encoded protein is only active when it is phosphorylated, and this phosphorylation is cell cycle-dependent, with the maximal activity of this protein coming during S phase. The catalytic activity of this protein is diminished by DNA damage and by blockage of DNA replication. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2011]
Allele List at MGI
Other mutations in this stock
Total: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700010I14Rik T C 17: 8,993,632 F257L probably benign Het
Aaas A G 15: 102,350,491 probably benign Het
AI661453 C T 17: 47,446,588 R57W probably damaging Het
Ank2 C A 3: 126,955,870 E503D probably damaging Het
Bahd1 T C 2: 118,916,116 V72A probably damaging Het
Bcl3 A G 7: 19,809,134 probably benign Het
Blnk A T 19: 40,994,002 probably benign Het
Cd81 T C 7: 143,067,352 I230T probably benign Het
Cdc20b A T 13: 113,091,042 R485S possibly damaging Het
Cenpp C A 13: 49,464,254 A273S probably benign Het
Cep295 A G 9: 15,325,572 V2022A probably benign Het
Ces1d C A 8: 93,169,718 probably null Het
Cfap61 C A 2: 145,939,999 probably benign Het
Col8a1 T A 16: 57,628,364 H261L unknown Het
Cyp2j5 A T 4: 96,629,523 M484K probably benign Het
D930020B18Rik T C 10: 121,685,622 probably benign Het
Dhdds A T 4: 133,982,849 L203Q probably damaging Het
Dusp6 A G 10: 99,266,294 T381A probably damaging Het
Fnbp4 A G 2: 90,751,179 D192G probably benign Het
Gbp2 G T 3: 142,632,019 V299F probably damaging Het
Gfpt1 G T 6: 87,053,831 V66F probably damaging Het
Heatr1 T C 13: 12,407,509 probably benign Het
Ikbkap A G 4: 56,774,686 probably null Het
Irf8 T A 8: 120,753,358 S112T probably damaging Het
Jmy G T 13: 93,499,199 N36K probably damaging Het
Kcnt2 T C 1: 140,570,455 I866T probably benign Het
Kif1c A T 11: 70,705,189 M210L probably damaging Het
Kng1 G A 16: 23,074,692 V272I possibly damaging Het
Lrig2 A C 3: 104,494,073 M166R probably damaging Het
Mastl A G 2: 23,139,919 L265P probably damaging Het
Mmp27 A G 9: 7,581,376 T547A probably benign Het
Myh4 T C 11: 67,248,479 C541R probably damaging Het
Naip2 A T 13: 100,189,354 F15L possibly damaging Het
Nipal1 G T 5: 72,663,625 probably null Het
Nrp2 A T 1: 62,771,734 N645Y probably damaging Het
Olfr1284 T A 2: 111,379,590 F197I possibly damaging Het
Olfr348 T A 2: 36,786,846 F107Y possibly damaging Het
Olfr39 T A 9: 20,285,984 M103K probably benign Het
Plcl1 T A 1: 55,695,787 S96T probably damaging Het
Prl2c1 A C 13: 27,856,541 D139A probably benign Het
Prmt5 A T 14: 54,516,598 M43K possibly damaging Het
Ptpn21 T A 12: 98,680,056 M1048L probably benign Het
Ptprq T C 10: 107,685,566 E653G possibly damaging Het
Rbm6 A G 9: 107,787,368 S689P probably damaging Het
Rtn3 A G 19: 7,483,090 probably benign Het
Shoc2 T C 19: 54,003,027 I241T probably benign Het
Sipa1 A T 19: 5,656,161 D380E probably damaging Het
Slc1a6 T C 10: 78,814,608 V560A probably benign Het
Speer2 T C 16: 69,858,115 H154R possibly damaging Het
Trim15 A G 17: 36,866,893 L70P probably damaging Het
Ttc9b T C 7: 27,654,933 L148P probably damaging Het
Vwa8 C T 14: 78,995,098 P627S probably benign Het
Other mutations in Tlk1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00673:Tlk1 APN 2 70745516 missense probably damaging 1.00
IGL01087:Tlk1 APN 2 70752316 missense possibly damaging 0.64
IGL01514:Tlk1 APN 2 70752266 missense probably benign 0.00
IGL02976:Tlk1 APN 2 70721591 nonsense probably null
aku-aku UTSW 2 70738445 missense probably damaging 0.98
Heyerdahl UTSW 2 70738426 nonsense probably null
K3955:Tlk1 UTSW 2 70721701 missense possibly damaging 0.85
R0107:Tlk1 UTSW 2 70713989 makesense probably null
R0226:Tlk1 UTSW 2 70714169 unclassified probably benign
R0332:Tlk1 UTSW 2 70745565 synonymous probably null
R0601:Tlk1 UTSW 2 70714158 missense probably benign 0.44
R1739:Tlk1 UTSW 2 70721077 missense probably damaging 1.00
R2080:Tlk1 UTSW 2 70738445 missense probably damaging 0.98
R2422:Tlk1 UTSW 2 70770005 missense probably damaging 1.00
R3843:Tlk1 UTSW 2 70749327 missense probably benign 0.05
R3970:Tlk1 UTSW 2 70716652 missense probably damaging 1.00
R4191:Tlk1 UTSW 2 70725547 missense probably damaging 1.00
R4867:Tlk1 UTSW 2 70721571 nonsense probably null
R5022:Tlk1 UTSW 2 70742065 missense probably benign 0.10
R5275:Tlk1 UTSW 2 70752205 intron probably benign
R5469:Tlk1 UTSW 2 70721668 missense probably benign 0.15
R6531:Tlk1 UTSW 2 70742083 missense probably benign 0.00
R6592:Tlk1 UTSW 2 70714153 missense probably damaging 1.00
R6797:Tlk1 UTSW 2 70738426 nonsense probably null
R7030:Tlk1 UTSW 2 70721928 missense probably damaging 1.00
X0028:Tlk1 UTSW 2 70746031 missense probably damaging 1.00
Posted On2016-08-02