Incidental Mutation 'R8190:Clock'
ID 635065
Institutional Source Beutler Lab
Gene Symbol Clock
Ensembl Gene ENSMUSG00000029238
Gene Name clock circadian regulator
Synonyms bHLHe8, KAT13D, 5330400M04Rik
MMRRC Submission 067613-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.728) question?
Stock # R8190 (G1)
Quality Score 225.009
Status Not validated
Chromosome 5
Chromosomal Location 76357715-76452639 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 76375051 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Glutamic Acid at position 706 (V706E)
Ref Sequence ENSEMBL: ENSMUSP00000074656 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000075159] [ENSMUST00000202122] [ENSMUST00000202651]
AlphaFold O08785
PDB Structure Crystal Structure of the Heterodimeric CLOCK:BMAL1 Transcriptional Activator Complex [X-RAY DIFFRACTION]
Predicted Effect probably damaging
Transcript: ENSMUST00000075159
AA Change: V706E

PolyPhen 2 Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000074656
Gene: ENSMUSG00000029238
AA Change: V706E

DomainStartEndE-ValueType
HLH 40 90 7.77e-12 SMART
PAS 109 175 1.88e-6 SMART
PAS 264 330 3.65e-4 SMART
PAC 336 379 7.63e-7 SMART
low complexity region 426 446 N/A INTRINSIC
low complexity region 478 493 N/A INTRINSIC
coiled coil region 523 559 N/A INTRINSIC
low complexity region 619 634 N/A INTRINSIC
low complexity region 640 657 N/A INTRINSIC
low complexity region 738 796 N/A INTRINSIC
low complexity region 818 837 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000202122
AA Change: V705E

PolyPhen 2 Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000144022
Gene: ENSMUSG00000029238
AA Change: V705E

DomainStartEndE-ValueType
TFS2N 34 106 4.1e-3 SMART
HLH 40 90 3.4e-14 SMART
PAS 109 175 9.6e-9 SMART
PAS 264 330 1.8e-6 SMART
PAC 336 379 3.9e-9 SMART
low complexity region 426 446 N/A INTRINSIC
low complexity region 478 493 N/A INTRINSIC
coiled coil region 523 559 N/A INTRINSIC
low complexity region 619 633 N/A INTRINSIC
low complexity region 639 656 N/A INTRINSIC
low complexity region 737 795 N/A INTRINSIC
low complexity region 817 836 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000202651
AA Change: V706E

PolyPhen 2 Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000143939
Gene: ENSMUSG00000029238
AA Change: V706E

DomainStartEndE-ValueType
HLH 40 90 7.77e-12 SMART
PAS 109 175 1.88e-6 SMART
PAS 264 330 3.65e-4 SMART
PAC 336 379 7.63e-7 SMART
low complexity region 426 446 N/A INTRINSIC
low complexity region 478 493 N/A INTRINSIC
coiled coil region 523 559 N/A INTRINSIC
low complexity region 619 634 N/A INTRINSIC
low complexity region 640 657 N/A INTRINSIC
low complexity region 738 796 N/A INTRINSIC
low complexity region 818 837 N/A INTRINSIC
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.5%
  • 20x: 98.3%
Validation Efficiency
MGI Phenotype FUNCTION: The protein encoded by this gene plays a central role in the regulation of circadian rhythms. The protein encodes a transcription factor of the basic helix-loop-helix (bHLH) family and contains DNA binding histone acetyltransferase activity. The encoded protein forms a heterodimer with Arntl (Bmal1) that binds E-box enhancer elements upstream of Period (Per1, Per2, Per3) and Cryptochrome (Cry1, Cry2) genes and activates transcription of these genes. Per and Cry proteins heterodimerize and repress their own transcription by interacting in a feedback loop with Clock/Arntl complexes. Polymorphisms in this gene may be associated with behavioral changes, obesity, and metabolic syndrome. Two transcripts encoding the same protein have been found for this gene. [provided by RefSeq, Jan 2014]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit abnormal circadian phase. Mice homozygous for a spontaneous mutation exhibit abnormal circadian rhythm, reproduction, behavior, hair cycle, macronutrient absorption, and metabolism. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 73 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Actr8 T C 14: 29,706,030 (GRCm39) V113A possibly damaging Het
Adcy7 A G 8: 89,037,666 (GRCm39) M245V possibly damaging Het
Adgra1 G T 7: 139,456,034 (GRCm39) R554L probably benign Het
Agfg2 T A 5: 137,653,664 (GRCm39) M351L probably benign Het
Ahnak G A 19: 8,979,619 (GRCm39) G301D probably benign Het
Ambra1 C T 2: 91,602,697 (GRCm39) A227V possibly damaging Het
Ankrd24 T A 10: 81,474,152 (GRCm39) D166E unknown Het
Anks1 C T 17: 28,205,778 (GRCm39) P341S probably benign Het
Ano4 C T 10: 88,808,607 (GRCm39) D766N probably benign Het
Apol7e A T 15: 77,602,007 (GRCm39) T202S possibly damaging Het
Arhgap44 C A 11: 64,929,479 (GRCm39) C275F probably damaging Het
Arl6ip4 A C 5: 124,255,095 (GRCm39) K95T probably damaging Het
Bbs9 T C 9: 22,590,284 (GRCm39) L674P probably damaging Het
Bmp4 T A 14: 46,621,972 (GRCm39) M191L probably benign Het
Celsr1 A G 15: 85,787,090 (GRCm39) L2753P probably damaging Het
Cerkl T A 2: 79,163,901 (GRCm39) H473L probably benign Het
Cfap99 A T 5: 34,482,502 (GRCm39) T538S possibly damaging Het
Cpne6 T C 14: 55,749,485 (GRCm39) M15T probably benign Het
Deaf1 T C 7: 140,894,324 (GRCm39) D351G probably damaging Het
Dnajb8 C T 6: 88,199,940 (GRCm39) R159C possibly damaging Het
Eif3j1 A T 2: 121,877,969 (GRCm39) D119V probably damaging Het
Eps8l1 C A 7: 4,474,297 (GRCm39) S195Y probably benign Het
Exosc5 T C 7: 25,365,769 (GRCm39) probably null Het
Fabp2 A T 3: 122,690,419 (GRCm39) H34L probably benign Het
Fbln5 T A 12: 101,723,555 (GRCm39) Q382L probably damaging Het
Fbxo34 C A 14: 47,767,879 (GRCm39) T464K possibly damaging Het
Fndc8 T G 11: 82,788,686 (GRCm39) V172G probably damaging Het
Frs2 C T 10: 116,910,784 (GRCm39) V193I possibly damaging Het
Gadd45a A G 6: 67,013,813 (GRCm39) I44T possibly damaging Het
Gprin3 A G 6: 59,331,456 (GRCm39) S284P possibly damaging Het
Gsta4 T C 9: 78,105,654 (GRCm39) V28A possibly damaging Het
Herc1 T A 9: 66,325,733 (GRCm39) D1402E probably benign Het
Hipk2 A T 6: 38,795,728 (GRCm39) S180R possibly damaging Het
Hrg A T 16: 22,779,793 (GRCm39) H357L unknown Het
Htr4 A G 18: 62,570,971 (GRCm39) Q342R possibly damaging Het
Impa1 A G 3: 10,386,688 (GRCm39) S184P possibly damaging Het
Iqgap3 A T 3: 87,998,086 (GRCm39) Q281L probably damaging Het
Kcnh8 C T 17: 53,263,936 (GRCm39) P811L probably damaging Het
Lpin1 T C 12: 16,599,003 (GRCm39) I628V Het
Lrrc38 G A 4: 143,077,303 (GRCm39) G189R probably damaging Het
Mfn1 A T 3: 32,622,538 (GRCm39) I599F possibly damaging Het
Nalcn T A 14: 123,837,351 (GRCm39) R4S possibly damaging Het
Nbeal2 C T 9: 110,455,158 (GRCm39) R2580Q probably benign Het
Nlrp4b A G 7: 10,448,319 (GRCm39) N174S probably damaging Het
Or3a4 T A 11: 73,945,305 (GRCm39) R93S probably benign Het
Or4q3 A T 14: 50,583,179 (GRCm39) V240D probably damaging Het
Or52a5 A T 7: 103,426,802 (GRCm39) V250D probably damaging Het
Or5p63 A G 7: 107,811,014 (GRCm39) F241L possibly damaging Het
Pabpc2 G A 18: 39,908,520 (GRCm39) R595Q probably benign Het
Pak6 C T 2: 118,520,578 (GRCm39) Q190* probably null Het
Pds5a A T 5: 65,781,341 (GRCm39) H1046Q probably damaging Het
Plin1 A G 7: 79,373,028 (GRCm39) S314P probably benign Het
Pramel20 T G 4: 143,298,530 (GRCm39) Y158D probably benign Het
Ptpra G A 2: 30,328,351 (GRCm39) S224N probably damaging Het
Rbp1 T G 9: 98,326,709 (GRCm39) W107G probably damaging Het
Rgs7bp T C 13: 105,189,617 (GRCm39) N61D probably damaging Het
Slc1a6 A G 10: 78,627,067 (GRCm39) T135A probably damaging Het
Smarcc1 T A 9: 110,031,602 (GRCm39) D783E probably benign Het
Sufu G T 19: 46,389,636 (GRCm39) E86* probably null Het
Synm A T 7: 67,383,654 (GRCm39) M1336K probably benign Het
Tgm1 C T 14: 55,942,341 (GRCm39) G670D probably damaging Het
Tmc8 T G 11: 117,682,186 (GRCm39) probably null Het
Togaram1 T C 12: 65,053,686 (GRCm39) V1322A probably damaging Het
Uxs1 A T 1: 43,810,911 (GRCm39) I225K possibly damaging Het
Vil1 G T 1: 74,474,052 (GRCm39) E796* probably null Het
Vmn1r174 T C 7: 23,453,568 (GRCm39) F78S probably damaging Het
Vps13d T A 4: 144,879,321 (GRCm39) I1501F Het
Vps8 A T 16: 21,393,780 (GRCm39) T1216S possibly damaging Het
Yipf4 G T 17: 74,800,967 (GRCm39) R95L probably damaging Het
Zan T A 5: 137,465,346 (GRCm39) T470S probably damaging Het
Zfp113 G T 5: 138,143,258 (GRCm39) H331N probably damaging Het
Zfp62 A G 11: 49,106,902 (GRCm39) Y331C probably damaging Het
Zfyve26 T C 12: 79,327,610 (GRCm39) H580R probably benign Het
Other mutations in Clock
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00598:Clock APN 5 76,377,311 (GRCm39) missense probably benign 0.17
IGL00725:Clock APN 5 76,402,260 (GRCm39) nonsense probably null
IGL01304:Clock APN 5 76,414,202 (GRCm39) critical splice donor site probably null
IGL01369:Clock APN 5 76,384,933 (GRCm39) missense probably benign 0.30
IGL01542:Clock APN 5 76,379,322 (GRCm39) missense possibly damaging 0.82
IGL02541:Clock APN 5 76,410,519 (GRCm39) splice site probably null
IGL02602:Clock APN 5 76,402,274 (GRCm39) missense probably damaging 1.00
IGL02602:Clock APN 5 76,402,273 (GRCm39) missense probably null 1.00
IGL03186:Clock APN 5 76,390,929 (GRCm39) missense probably damaging 0.98
IGL03309:Clock APN 5 76,379,241 (GRCm39) critical splice donor site probably null
R6760_Clock_188 UTSW 5 76,374,823 (GRCm39) missense unknown
uhr UTSW 5 76,377,401 (GRCm39) nonsense probably null
R0304:Clock UTSW 5 76,374,832 (GRCm39) missense unknown
R0593:Clock UTSW 5 76,413,683 (GRCm39) missense probably benign 0.25
R0654:Clock UTSW 5 76,374,976 (GRCm39) missense possibly damaging 0.95
R0684:Clock UTSW 5 76,393,365 (GRCm39) missense probably damaging 0.96
R0707:Clock UTSW 5 76,374,976 (GRCm39) missense possibly damaging 0.95
R0751:Clock UTSW 5 76,377,208 (GRCm39) missense possibly damaging 0.75
R0865:Clock UTSW 5 76,414,271 (GRCm39) splice site probably benign
R0920:Clock UTSW 5 76,378,167 (GRCm39) missense possibly damaging 0.80
R1396:Clock UTSW 5 76,414,649 (GRCm39) missense probably benign 0.00
R1450:Clock UTSW 5 76,410,578 (GRCm39) nonsense probably null
R1487:Clock UTSW 5 76,414,201 (GRCm39) splice site probably null
R1574:Clock UTSW 5 76,390,679 (GRCm39) missense probably damaging 1.00
R1574:Clock UTSW 5 76,390,679 (GRCm39) missense probably damaging 1.00
R1858:Clock UTSW 5 76,388,756 (GRCm39) missense possibly damaging 0.92
R1872:Clock UTSW 5 76,396,309 (GRCm39) missense possibly damaging 0.67
R1905:Clock UTSW 5 76,414,735 (GRCm39) splice site probably benign
R1937:Clock UTSW 5 76,377,340 (GRCm39) missense probably damaging 0.99
R2411:Clock UTSW 5 76,379,360 (GRCm39) missense probably benign 0.08
R2887:Clock UTSW 5 76,393,120 (GRCm39) missense probably damaging 0.99
R3410:Clock UTSW 5 76,377,401 (GRCm39) nonsense probably null
R4514:Clock UTSW 5 76,378,046 (GRCm39) missense probably benign 0.00
R4598:Clock UTSW 5 76,383,657 (GRCm39) missense probably benign 0.00
R4599:Clock UTSW 5 76,383,657 (GRCm39) missense probably benign 0.00
R4795:Clock UTSW 5 76,413,763 (GRCm39) missense probably damaging 1.00
R4796:Clock UTSW 5 76,413,763 (GRCm39) missense probably damaging 1.00
R4973:Clock UTSW 5 76,402,258 (GRCm39) missense possibly damaging 0.62
R5204:Clock UTSW 5 76,391,017 (GRCm39) splice site probably null
R5271:Clock UTSW 5 76,389,801 (GRCm39) missense probably damaging 1.00
R5547:Clock UTSW 5 76,378,185 (GRCm39) missense probably benign 0.02
R5630:Clock UTSW 5 76,378,185 (GRCm39) missense probably benign 0.02
R5631:Clock UTSW 5 76,378,185 (GRCm39) missense probably benign 0.02
R5632:Clock UTSW 5 76,378,185 (GRCm39) missense probably benign 0.02
R5787:Clock UTSW 5 76,384,898 (GRCm39) missense probably damaging 1.00
R6274:Clock UTSW 5 76,385,000 (GRCm39) missense probably benign 0.45
R6578:Clock UTSW 5 76,364,556 (GRCm39) missense unknown
R6622:Clock UTSW 5 76,389,801 (GRCm39) missense probably damaging 1.00
R6760:Clock UTSW 5 76,374,823 (GRCm39) missense unknown
R6793:Clock UTSW 5 76,384,967 (GRCm39) frame shift probably null
R7406:Clock UTSW 5 76,414,692 (GRCm39) start codon destroyed probably null 0.26
R7414:Clock UTSW 5 76,410,611 (GRCm39) missense probably benign 0.00
R7560:Clock UTSW 5 76,390,738 (GRCm39) splice site probably null
R7593:Clock UTSW 5 76,384,145 (GRCm39) missense possibly damaging 0.80
R7640:Clock UTSW 5 76,396,225 (GRCm39) missense possibly damaging 0.71
R7708:Clock UTSW 5 76,414,256 (GRCm39) missense probably benign 0.00
R7713:Clock UTSW 5 76,393,267 (GRCm39) critical splice donor site probably null
R7807:Clock UTSW 5 76,390,982 (GRCm39) missense probably benign 0.01
R8171:Clock UTSW 5 76,414,261 (GRCm39) missense possibly damaging 0.94
R8225:Clock UTSW 5 76,389,759 (GRCm39) missense probably damaging 0.99
R8309:Clock UTSW 5 76,402,269 (GRCm39) missense probably benign 0.07
R8557:Clock UTSW 5 76,377,217 (GRCm39) missense probably damaging 1.00
R8792:Clock UTSW 5 76,410,574 (GRCm39) missense probably damaging 1.00
R8869:Clock UTSW 5 76,374,889 (GRCm39) small deletion probably benign
R8870:Clock UTSW 5 76,383,632 (GRCm39) missense probably benign 0.17
R8980:Clock UTSW 5 76,402,286 (GRCm39) missense probably benign 0.01
R8982:Clock UTSW 5 76,364,559 (GRCm39) missense unknown
R9177:Clock UTSW 5 76,377,256 (GRCm39) missense probably benign 0.00
R9208:Clock UTSW 5 76,384,871 (GRCm39) missense probably benign 0.00
R9213:Clock UTSW 5 76,393,376 (GRCm39) missense possibly damaging 0.94
R9307:Clock UTSW 5 76,364,671 (GRCm39) missense unknown
R9446:Clock UTSW 5 76,396,288 (GRCm39) missense probably benign 0.00
R9516:Clock UTSW 5 76,377,227 (GRCm39) missense possibly damaging 0.85
R9572:Clock UTSW 5 76,377,338 (GRCm39) missense probably benign 0.00
R9630:Clock UTSW 5 76,393,281 (GRCm39) missense probably benign 0.03
Predicted Primers PCR Primer
(F):5'- TAAGAACTGCTGTGGTGGC -3'
(R):5'- TTTGCCTCCAAGGACAGTC -3'

Sequencing Primer
(F):5'- ACTGAAGGAAGCTGCTGTTCC -3'
(R):5'- GTCTCTGAAAACTAAGAGCATATGC -3'
Posted On 2020-07-13