Incidental Mutation 'R8792:Clock'
ID 670989
Institutional Source Beutler Lab
Gene Symbol Clock
Ensembl Gene ENSMUSG00000029238
Gene Name clock circadian regulator
Synonyms bHLHe8, KAT13D, 5330400M04Rik
MMRRC Submission 068635-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.728) question?
Stock # R8792 (G1)
Quality Score 225.009
Status Validated
Chromosome 5
Chromosomal Location 76357715-76452639 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 76410574 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Valine at position 99 (D99V)
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: D99V

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000074656
Gene: ENSMUSG00000029238
AA Change: D99V

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: D99V

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000144022
Gene: ENSMUSG00000029238
AA Change: D99V

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: D99V

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000143939
Gene: ENSMUSG00000029238
AA Change: D99V

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: 100.0%
  • 10x: 99.8%
  • 20x: 99.5%
Validation Efficiency 100% (62/62)
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: 61 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aco2 T C 15: 81,793,697 (GRCm39) I382T probably damaging Het
Adam39 G T 8: 41,279,613 (GRCm39) R668L probably benign Het
Adam6b T C 12: 113,455,310 (GRCm39) I709T possibly damaging Het
Adgrl3 A G 5: 81,836,522 (GRCm39) E692G probably damaging Het
Asxl2 T C 12: 3,546,536 (GRCm39) L440P probably benign Het
Atosb G A 4: 43,033,546 (GRCm39) P536S probably damaging Het
Bmf A G 2: 118,377,386 (GRCm39) F121L probably damaging Het
Cblif C A 19: 11,727,599 (GRCm39) A141E probably damaging Het
Cdk9 A T 2: 32,598,269 (GRCm39) F262L probably benign Het
Dnah14 A T 1: 181,642,189 (GRCm39) T102S Het
Eps15 T C 4: 109,162,908 (GRCm39) V67A probably benign Het
Fam171b T A 2: 83,643,103 (GRCm39) L4H probably damaging Het
Fcho2 T A 13: 98,951,769 (GRCm39) probably benign Het
Gal3st4 C T 5: 138,269,251 (GRCm39) V70M probably damaging Het
Garin2 C T 12: 78,761,924 (GRCm39) T196M probably damaging Het
Got1l1 C A 8: 27,690,749 (GRCm39) probably null Het
Gpr146 A G 5: 139,378,549 (GRCm39) Y117C probably damaging Het
Gpr158 G A 2: 21,558,137 (GRCm39) V346M probably damaging Het
Herc1 C A 9: 66,372,768 (GRCm39) P3108Q probably damaging Het
Hoxc9 A G 15: 102,890,226 (GRCm39) S48G probably benign Het
I830077J02Rik T C 3: 105,835,104 (GRCm39) probably benign Het
Ift70a1 C A 2: 75,811,898 (GRCm39) E62* probably null Het
Lama4 T G 10: 38,924,048 (GRCm39) I485M probably benign Het
Lrp4 C T 2: 91,325,300 (GRCm39) T1375I possibly damaging Het
Lrp6 T C 6: 134,463,549 (GRCm39) Y544C probably damaging Het
Man2b1 C T 8: 85,821,773 (GRCm39) Q692* probably null Het
Mark2 G T 19: 7,258,580 (GRCm39) H570N probably benign Het
Mlph T C 1: 90,870,682 (GRCm39) probably benign Het
Mnx1 G A 5: 29,683,372 (GRCm39) probably benign Het
Nkx2-2 A T 2: 147,019,813 (GRCm39) V208E probably benign Het
Nlrp1b T C 11: 71,050,919 (GRCm39) I1058V probably benign Het
Nwd2 T C 5: 63,963,047 (GRCm39) I877T probably damaging Het
Olfml2b A T 1: 170,508,669 (GRCm39) N509I possibly damaging Het
Or1e27-ps1 T C 11: 73,555,471 (GRCm39) L12P probably damaging Het
Or4c121 T C 2: 89,024,231 (GRCm39) Y49C probably benign Het
Or4f14b G C 2: 111,775,073 (GRCm39) H243D probably damaging Het
Pabpc6 T C 17: 9,888,332 (GRCm39) N73S probably damaging Het
Parp12 A G 6: 39,065,984 (GRCm39) F580L probably benign Het
Parvg C A 15: 84,213,160 (GRCm39) H80Q probably damaging Het
Pcdhb14 T C 18: 37,582,541 (GRCm39) V549A probably damaging Het
Pde8b T A 13: 95,179,534 (GRCm39) H374L probably benign Het
Pgap4 T C 4: 49,587,067 (GRCm39) T34A possibly damaging Het
Phf2 C T 13: 48,970,981 (GRCm39) probably benign Het
Pld4 T C 12: 112,729,924 (GRCm39) F69L probably benign Het
Qrich2 T C 11: 116,347,456 (GRCm39) I1123V unknown Het
Rida C T 15: 34,495,242 (GRCm39) V8M possibly damaging Het
Rnf19b T A 4: 128,952,478 (GRCm39) C139S probably damaging Het
Rp1 T C 1: 4,095,091 (GRCm39) I1254M unknown Het
Rpl3l A G 17: 24,947,447 (GRCm39) T2A possibly damaging Het
Serpinb6e A T 13: 34,022,942 (GRCm39) I147N possibly damaging Het
Slc12a4 G A 8: 106,673,390 (GRCm39) T727I probably damaging Het
Slc25a16 C T 10: 62,764,119 (GRCm39) R59* probably null Het
Strc T A 2: 121,208,286 (GRCm39) I362F probably damaging Het
Tbc1d5 TTGCTGCTGCTGCTGCTG TTGCTGCTGCTGCTGCTGCTG 17: 51,106,962 (GRCm39) probably benign Het
Tll1 T A 8: 64,538,499 (GRCm39) T382S probably damaging Het
Tmprss6 T A 15: 78,328,328 (GRCm39) D556V probably damaging Het
Ttc13 A G 8: 125,401,099 (GRCm39) probably null Het
Usp43 T A 11: 67,767,244 (GRCm39) K709* probably null Het
Vcan A T 13: 89,840,230 (GRCm39) N1771K possibly damaging Het
Zfyve16 T C 13: 92,659,669 (GRCm39) I81V probably benign Het
Zxdc A G 6: 90,346,986 (GRCm39) T116A 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
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'- GCAGGGCTAATTACATTACACTG -3'
(R):5'- CAGAGTGTATCAAAGCCCTCCC -3'

Sequencing Primer
(F):5'- GTAATACTGCTAGAGCTATACTA -3'
(R):5'- AACATTTCACATTTTCAGAGCCTGGC -3'
Posted On 2021-04-30