Incidental Mutation 'R8870:Clock'
ID 676194
Institutional Source Beutler Lab
Gene Symbol Clock
Ensembl Gene ENSMUSG00000029238
Gene Name clock circadian regulator
Synonyms bHLHe8, KAT13D, 5330400M04Rik
MMRRC Submission 068684-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.728) question?
Stock # R8870 (G1)
Quality Score 225.009
Status Validated
Chromosome 5
Chromosomal Location 76357715-76452639 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 76383632 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Asparagine at position 507 (I507N)
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 benign
Transcript: ENSMUST00000075159
AA Change: I507N

PolyPhen 2 Score 0.166 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000074656
Gene: ENSMUSG00000029238
AA Change: I507N

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 benign
Transcript: ENSMUST00000202122
AA Change: I507N

PolyPhen 2 Score 0.166 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000144022
Gene: ENSMUSG00000029238
AA Change: I507N

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 benign
Transcript: ENSMUST00000202651
AA Change: I507N

PolyPhen 2 Score 0.166 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000143939
Gene: ENSMUSG00000029238
AA Change: I507N

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: 99.6%
  • 20x: 98.8%
Validation Efficiency 100% (76/76)
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: 79 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2210408I21Rik A T 13: 77,471,840 (GRCm39) N1082Y possibly damaging Het
4930444P10Rik G A 1: 16,136,451 (GRCm39) Q122* probably null Het
Afg2a A G 3: 37,502,661 (GRCm39) N607D probably benign Het
Ak8 C T 2: 28,625,602 (GRCm39) T215M probably benign Het
Ano3 T A 2: 110,614,074 (GRCm39) I210F probably benign Het
Atg9b A G 5: 24,592,032 (GRCm39) F656L probably damaging Het
Bscl2 T C 19: 8,824,793 (GRCm39) M292T probably benign Het
Cachd1 G T 4: 100,754,978 (GRCm39) C143F probably damaging Het
Calcoco2 GGGCCTTCTCTTTCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTTCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTTCTCCCAGGAGGCCTTCTCTTCC GGGCCTTCTCTTTCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTTCTCCCAGGAGGCCTTCTCTTCC 11: 95,990,808 (GRCm39) probably benign Het
Ccnb1ip1 C T 14: 51,029,450 (GRCm39) G204E probably benign Het
Ccr1 T A 9: 123,764,022 (GRCm39) L169F probably benign Het
Cdc42bpg A G 19: 6,364,550 (GRCm39) N593D possibly damaging Het
Cdh20 T C 1: 104,873,048 (GRCm39) S265P probably damaging Het
Cenpk A G 13: 104,367,365 (GRCm39) E67G probably damaging Het
Cep76 A T 18: 67,773,190 (GRCm39) I36K probably benign Het
Cpne1 T C 2: 155,920,873 (GRCm39) T110A probably benign Het
Crybg2 A T 4: 133,818,525 (GRCm39) E1427V possibly damaging Het
Ctu1 A C 7: 43,324,746 (GRCm39) K62Q probably damaging Het
Dnai4 C T 4: 102,944,529 (GRCm39) probably null Het
Drd5 C A 5: 38,477,747 (GRCm39) Q247K possibly damaging Het
Ect2l A T 10: 18,014,608 (GRCm39) L808* probably null Het
Efcab3 A G 11: 104,791,500 (GRCm39) T2905A probably benign Het
Ficd A T 5: 113,876,248 (GRCm39) D141V probably damaging Het
Fnbp1 A G 2: 30,938,222 (GRCm39) Y148H Het
Gm49368 A G 7: 127,700,685 (GRCm39) K485R probably benign Het
Gpr75 C A 11: 30,841,860 (GRCm39) A255D probably benign Het
Hcrtr2 G T 9: 76,153,666 (GRCm39) A242D probably damaging Het
Iapp G T 6: 142,244,602 (GRCm39) V10F probably benign Het
Ikzf2 A G 1: 69,722,417 (GRCm39) S31P possibly damaging Het
Il18rap G A 1: 40,564,280 (GRCm39) probably benign Het
Irak2 A T 6: 113,663,902 (GRCm39) N423Y probably damaging Het
Itpkb A G 1: 180,159,744 (GRCm39) probably benign Het
Itpr1 A G 6: 108,365,172 (GRCm39) I874M probably damaging Het
Kif26b G T 1: 178,692,594 (GRCm39) V512F probably damaging Het
Lhx6 G A 2: 35,995,232 (GRCm39) probably benign Het
Lrfn1 A G 7: 28,158,918 (GRCm39) E279G possibly damaging Het
Masp1 A C 16: 23,314,882 (GRCm39) D126E probably damaging Het
Mef2a T C 7: 66,890,176 (GRCm39) I299V probably benign Het
Midn A G 10: 79,985,939 (GRCm39) S10G probably damaging Het
Mrps12 A T 7: 28,439,361 (GRCm39) L118Q probably damaging Het
Mxi1 G A 19: 53,360,126 (GRCm39) G283S probably damaging Het
Mzf1 A G 7: 12,786,836 (GRCm39) V78A probably benign Het
Ncoa6 A G 2: 155,263,078 (GRCm39) V452A probably damaging Het
Neb A G 2: 52,051,481 (GRCm39) Y6600H probably damaging Het
Nlgn2 A G 11: 69,716,297 (GRCm39) L748P possibly damaging Het
Nnmt A T 9: 48,514,801 (GRCm39) L72H probably damaging Het
Nrxn3 A G 12: 90,171,560 (GRCm39) T964A probably benign Het
Or12k7 A G 2: 36,958,982 (GRCm39) I222V probably benign Het
Or1e35 T G 11: 73,797,725 (GRCm39) M198L probably benign Het
Or2y16 T A 11: 49,335,350 (GRCm39) V224E probably damaging Het
Or4k35 T A 2: 111,100,464 (GRCm39) I83F possibly damaging Het
Or5h27 G A 16: 59,006,130 (GRCm39) P239S unknown Het
Or8c11 A G 9: 38,289,720 (GRCm39) N175S probably benign Het
Or8g33 A G 9: 39,337,548 (GRCm39) V273A probably damaging Het
Osbpl11 A G 16: 33,034,850 (GRCm39) N280D probably benign Het
Peg10 A T 6: 4,754,825 (GRCm39) Y202F probably damaging Het
Pick1 A G 15: 79,140,107 (GRCm39) R469G unknown Het
Rev3l A G 10: 39,738,786 (GRCm39) I2847V probably damaging Het
Rmc1 A G 18: 12,321,618 (GRCm39) E473G probably benign Het
Rnaseh2b T A 14: 62,569,617 (GRCm39) L18Q probably damaging Het
Rpl19 A G 11: 97,920,615 (GRCm39) Y122C probably benign Het
Selp A G 1: 163,964,787 (GRCm39) Y483C probably damaging Het
Setd2 T A 9: 110,423,321 (GRCm39) F347L Het
Snx14 A G 9: 88,295,541 (GRCm39) I208T probably benign Het
Spag16 T A 1: 70,036,017 (GRCm39) F348L probably benign Het
Spata22 A T 11: 73,231,091 (GRCm39) N115I probably damaging Het
Spata31 T C 13: 65,068,818 (GRCm39) V322A probably benign Het
Stc1 A T 14: 69,275,825 (GRCm39) H206L probably benign Het
Tas2r129 A G 6: 132,928,522 (GRCm39) D153G probably damaging Het
Tmem196 T A 12: 119,982,268 (GRCm39) N167K possibly damaging Het
Tmpo T C 10: 90,987,581 (GRCm39) T356A probably damaging Het
Tnks A G 8: 35,314,433 (GRCm39) probably null Het
Ttbk1 A C 17: 46,781,661 (GRCm39) L364R probably damaging Het
Vmn1r176 A T 7: 23,534,480 (GRCm39) N224K probably damaging Het
Vmn1r36 T A 6: 66,693,720 (GRCm39) M52L probably benign Het
Vmn2r93 A T 17: 18,525,320 (GRCm39) H326L possibly damaging Het
Wrn A T 8: 33,819,220 (GRCm39) M244K probably benign Het
Zcchc24 C T 14: 25,757,578 (GRCm39) A102T probably benign Het
Zfp1010 T A 2: 176,957,312 (GRCm39) Q62L 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
R8190:Clock UTSW 5 76,375,051 (GRCm39) missense probably damaging 0.98
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
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'- TGATTCTTTCTAGTAAGGGTCCAC -3'
(R):5'- GCAGCTCACTTTGTACTCAAC -3'

Sequencing Primer
(F):5'- GTAAGGGTCCACCAAAATCATTG -3'
(R):5'- TCAACAAAGTGAGGTTGATTGTCAG -3'
Posted On 2021-07-15