Incidental Mutation 'R2981:Timeless'
ID 257080
Institutional Source Beutler Lab
Gene Symbol Timeless
Ensembl Gene ENSMUSG00000039994
Gene Name timeless circadian clock 1
Synonyms tim
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R2981 (G1)
Quality Score 225
Status Not validated
Chromosome 10
Chromosomal Location 128067934-128088810 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 128084327 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 791 (T791A)
Ref Sequence ENSEMBL: ENSMUSP00000100879 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000055539] [ENSMUST00000105242] [ENSMUST00000105243] [ENSMUST00000105244] [ENSMUST00000105245]
AlphaFold Q9R1X4
Predicted Effect probably benign
Transcript: ENSMUST00000055539
AA Change: T791A

PolyPhen 2 Score 0.337 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000058021
Gene: ENSMUSG00000039994
AA Change: T791A

DomainStartEndE-ValueType
Pfam:TIMELESS 21 285 2.2e-102 PFAM
low complexity region 381 395 N/A INTRINSIC
low complexity region 528 537 N/A INTRINSIC
low complexity region 653 682 N/A INTRINSIC
Pfam:TIMELESS_C 722 1197 1.9e-186 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000105240
Predicted Effect probably benign
Transcript: ENSMUST00000105242
AA Change: T791A

PolyPhen 2 Score 0.337 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000100876
Gene: ENSMUSG00000039994
AA Change: T791A

DomainStartEndE-ValueType
Pfam:TIMELESS 21 285 2.1e-102 PFAM
low complexity region 381 395 N/A INTRINSIC
low complexity region 528 537 N/A INTRINSIC
low complexity region 653 682 N/A INTRINSIC
Pfam:TIMELESS_C 722 1196 4.4e-187 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000105243
SMART Domains Protein: ENSMUSP00000100877
Gene: ENSMUSG00000039994

DomainStartEndE-ValueType
Pfam:TIMELESS 21 285 7.8e-104 PFAM
low complexity region 381 395 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000105244
AA Change: T791A

PolyPhen 2 Score 0.337 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000100878
Gene: ENSMUSG00000039994
AA Change: T791A

DomainStartEndE-ValueType
Pfam:TIMELESS 21 285 2.3e-103 PFAM
low complexity region 381 395 N/A INTRINSIC
low complexity region 528 537 N/A INTRINSIC
low complexity region 653 682 N/A INTRINSIC
Pfam:TIMELESS_C 722 1196 5e-187 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000105245
AA Change: T791A

PolyPhen 2 Score 0.337 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000100879
Gene: ENSMUSG00000039994
AA Change: T791A

DomainStartEndE-ValueType
Pfam:TIMELESS 24 284 1.1e-81 PFAM
low complexity region 381 395 N/A INTRINSIC
low complexity region 528 537 N/A INTRINSIC
low complexity region 653 682 N/A INTRINSIC
Pfam:TIMELESS_C 722 1197 1.9e-186 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000145710
Predicted Effect noncoding transcript
Transcript: ENSMUST00000142484
Predicted Effect noncoding transcript
Transcript: ENSMUST00000142149
Predicted Effect noncoding transcript
Transcript: ENSMUST00000129147
Predicted Effect noncoding transcript
Transcript: ENSMUST00000146945
Predicted Effect noncoding transcript
Transcript: ENSMUST00000136854
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 97.2%
  • 20x: 94.8%
Validation Efficiency
MGI Phenotype FUNCTION: The protein encoded by this gene is highly conserved and is involved in cell survival after damage or stress, increase in DNA polymerase epsilon activity, maintenance of telomere length, and epithelial cell morphogenesis. The encoded protein also plays a role in the circadian rhythm autoregulatory loop, interacting with the PERIOD genes (PER1, PER2, and PER3) and others to downregulate activation of PER1 by CLOCK/ARNTL. Changes in this gene or its expression may promote prostate cancer, lung cancer, breast cancer, and mental disorders. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2014]
PHENOTYPE: Mice homozygous for a targeted mutation exhibit early embryonic lethality at aprroximately the time of implantation. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 19 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933434E20Rik A G 3: 89,965,938 (GRCm39) T163A probably benign Het
Adgrg7 C T 16: 56,570,769 (GRCm39) probably null Het
Ahnak C A 19: 8,977,512 (GRCm39) Q17K probably damaging Het
Cacna2d3 T C 14: 28,785,875 (GRCm39) Y604C probably damaging Het
Carf A T 1: 60,178,391 (GRCm39) E268V probably damaging Het
Dmxl2 C A 9: 54,300,986 (GRCm39) R2375L probably damaging Het
Fabp3 C T 4: 130,206,180 (GRCm39) T57I probably benign Het
Fer1l6 A G 15: 58,435,926 (GRCm39) K440E probably damaging Het
Grin2a A T 16: 9,462,087 (GRCm39) F682I possibly damaging Het
Irf3 C A 7: 44,648,124 (GRCm39) probably null Het
Kif1b C T 4: 149,304,998 (GRCm39) probably null Het
Pcdha5 A G 18: 37,094,529 (GRCm39) N346S probably damaging Het
Prex2 T A 1: 11,252,186 (GRCm39) V1077D probably damaging Het
Rptor T C 11: 119,756,420 (GRCm39) L71S probably damaging Het
Trim58 T A 11: 58,542,387 (GRCm39) V449D probably damaging Het
Ttc23l CT CTTGGATT 15: 10,537,648 (GRCm39) probably benign Het
Ttc23l G A 15: 10,537,652 (GRCm39) S206L probably benign Het
Vrk1 A G 12: 106,018,052 (GRCm39) Y107C probably damaging Het
Yeats2 C T 16: 20,005,051 (GRCm39) P400S probably damaging Het
Other mutations in Timeless
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00091:Timeless APN 10 128,077,577 (GRCm39) missense probably damaging 1.00
IGL02157:Timeless APN 10 128,078,255 (GRCm39) missense probably benign 0.01
IGL02300:Timeless APN 10 128,080,676 (GRCm39) missense probably benign 0.00
IGL02587:Timeless APN 10 128,075,785 (GRCm39) missense probably damaging 0.99
IGL02588:Timeless APN 10 128,079,203 (GRCm39) missense probably damaging 1.00
IGL02892:Timeless APN 10 128,080,120 (GRCm39) missense probably damaging 1.00
IGL02930:Timeless APN 10 128,083,060 (GRCm39) missense probably benign 0.00
IGL02986:Timeless APN 10 128,085,629 (GRCm39) missense possibly damaging 0.82
IGL03345:Timeless APN 10 128,083,455 (GRCm39) missense probably benign 0.04
IGL03393:Timeless APN 10 128,087,924 (GRCm39) missense probably damaging 1.00
R0388:Timeless UTSW 10 128,077,294 (GRCm39) splice site probably null
R0607:Timeless UTSW 10 128,082,203 (GRCm39) missense probably benign
R0638:Timeless UTSW 10 128,080,542 (GRCm39) nonsense probably null
R0734:Timeless UTSW 10 128,085,929 (GRCm39) missense probably damaging 1.00
R1346:Timeless UTSW 10 128,078,234 (GRCm39) missense possibly damaging 0.83
R1625:Timeless UTSW 10 128,076,493 (GRCm39) missense probably damaging 0.99
R1771:Timeless UTSW 10 128,083,477 (GRCm39) missense probably benign 0.11
R1860:Timeless UTSW 10 128,081,983 (GRCm39) missense probably benign 0.00
R1920:Timeless UTSW 10 128,077,583 (GRCm39) missense probably damaging 1.00
R1988:Timeless UTSW 10 128,080,056 (GRCm39) missense probably damaging 0.98
R4359:Timeless UTSW 10 128,083,211 (GRCm39) missense probably benign 0.00
R4647:Timeless UTSW 10 128,075,825 (GRCm39) missense possibly damaging 0.80
R4753:Timeless UTSW 10 128,075,889 (GRCm39) utr 5 prime probably benign
R4868:Timeless UTSW 10 128,083,230 (GRCm39) missense probably benign
R4901:Timeless UTSW 10 128,086,631 (GRCm39) missense probably damaging 1.00
R4956:Timeless UTSW 10 128,077,520 (GRCm39) missense probably damaging 1.00
R5341:Timeless UTSW 10 128,083,047 (GRCm39) missense possibly damaging 0.81
R5439:Timeless UTSW 10 128,077,604 (GRCm39) missense probably damaging 1.00
R5585:Timeless UTSW 10 128,076,112 (GRCm39) missense probably damaging 0.97
R5842:Timeless UTSW 10 128,083,328 (GRCm39) critical splice donor site probably null
R5843:Timeless UTSW 10 128,080,113 (GRCm39) splice site probably null
R6005:Timeless UTSW 10 128,080,069 (GRCm39) missense probably damaging 0.99
R6271:Timeless UTSW 10 128,086,593 (GRCm39) missense probably damaging 1.00
R6558:Timeless UTSW 10 128,085,432 (GRCm39) missense probably benign 0.01
R6694:Timeless UTSW 10 128,075,868 (GRCm39) critical splice donor site probably null
R6738:Timeless UTSW 10 128,076,504 (GRCm39) missense probably damaging 1.00
R6760:Timeless UTSW 10 128,081,986 (GRCm39) missense probably benign 0.38
R7213:Timeless UTSW 10 128,079,158 (GRCm39) missense probably benign
R7248:Timeless UTSW 10 128,087,870 (GRCm39) missense probably benign
R7345:Timeless UTSW 10 128,085,623 (GRCm39) missense probably damaging 1.00
R7463:Timeless UTSW 10 128,086,295 (GRCm39) missense probably benign 0.00
R7513:Timeless UTSW 10 128,085,399 (GRCm39) missense probably damaging 0.99
R7574:Timeless UTSW 10 128,080,538 (GRCm39) missense probably damaging 1.00
R8220:Timeless UTSW 10 128,082,265 (GRCm39) missense probably damaging 0.98
R8418:Timeless UTSW 10 128,086,605 (GRCm39) missense probably benign 0.02
R8742:Timeless UTSW 10 128,083,107 (GRCm39) missense probably benign 0.00
R8765:Timeless UTSW 10 128,080,412 (GRCm39) critical splice donor site probably null
R9508:Timeless UTSW 10 128,076,096 (GRCm39) missense probably benign 0.01
X0028:Timeless UTSW 10 128,086,194 (GRCm39) missense probably benign 0.01
Predicted Primers PCR Primer
(F):5'- GTCAGCAGGCAGGTTGAGG -3'
(R):5'- CATGAGACTACGCCCTTGTCT -3'

Sequencing Primer
(F):5'- CAGGTTGAGGAAGACGCATG -3'
(R):5'- GACTACGCCCTTGTCTCAGAAG -3'
Posted On 2015-01-11