Incidental Mutation 'R8309:Clock'
ID 641249
Institutional Source Beutler Lab
Gene Symbol Clock
Ensembl Gene ENSMUSG00000029238
Gene Name clock circadian regulator
Synonyms bHLHe8, KAT13D, 5330400M04Rik
MMRRC Submission 067794-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.728) question?
Stock # R8309 (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 76402269 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Arginine at position 130 (S130R)
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: S130R

PolyPhen 2 Score 0.066 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000074656
Gene: ENSMUSG00000029238
AA Change: S130R

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: S130R

PolyPhen 2 Score 0.066 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000144022
Gene: ENSMUSG00000029238
AA Change: S130R

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: S130R

PolyPhen 2 Score 0.066 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000143939
Gene: ENSMUSG00000029238
AA Change: S130R

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: 99.3%
Validation Efficiency 100% (82/82)
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: 84 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930402F06Rik T A 2: 35,279,599 (GRCm39) Y34F possibly damaging Het
Abcb6 A T 1: 75,149,588 (GRCm39) S664T probably benign Het
Abcc4 C T 14: 118,853,804 (GRCm39) V443M probably damaging Het
Abhd2 G A 7: 78,998,095 (GRCm39) G209D probably damaging Het
Acte1 A G 7: 143,437,680 (GRCm39) N126S possibly damaging Het
Ampd2 C A 3: 107,987,432 (GRCm39) V134L probably benign Het
Apbb2 T A 5: 66,520,179 (GRCm39) M449L probably benign Het
Ccdc81 T A 7: 89,526,786 (GRCm39) probably null Het
Cd209b A T 8: 3,976,559 (GRCm39) C42* probably null Het
Cdhr18 G A 14: 13,814,954 (GRCm38) Q860* probably null Het
Clec18a A T 8: 111,808,689 (GRCm39) M11K probably benign Het
Col12a1 G A 9: 79,512,465 (GRCm39) A2910V possibly damaging Het
Col6a4 C T 9: 105,952,414 (GRCm39) A495T probably benign Het
Cyp4f37 A T 17: 32,853,952 (GRCm39) N467I probably damaging Het
Ddo G A 10: 40,513,375 (GRCm39) V106M possibly damaging Het
Dennd5a A G 7: 109,500,332 (GRCm39) L931P probably damaging Het
Dgcr6 A G 16: 17,884,598 (GRCm39) D82G probably damaging Het
Dnah7b T C 1: 46,179,032 (GRCm39) S902P probably damaging Het
Dnal4 T G 15: 79,646,711 (GRCm39) I57L probably benign Het
Dst T A 1: 34,156,592 (GRCm39) I174N probably damaging Het
Dync2i1 T C 12: 116,219,705 (GRCm39) E79G probably damaging Het
Dync2i2 A G 2: 29,922,201 (GRCm39) L420P probably damaging Het
Eeig2 G A 3: 108,934,658 (GRCm39) probably benign Het
Efhb T C 17: 53,756,563 (GRCm39) T363A probably damaging Het
Ehbp1l1 A G 19: 5,767,103 (GRCm39) F1245S probably damaging Het
Eif4g1 A G 16: 20,507,578 (GRCm39) D1453G probably benign Het
Fbp1 T C 13: 63,016,831 (GRCm39) I224V probably benign Het
Gm10782 T G 13: 56,510,948 (GRCm39) F79V noncoding transcript Het
Gpaa1 C G 15: 76,216,160 (GRCm39) R47G possibly damaging Het
Hs2st1 G A 3: 144,143,365 (GRCm39) S226L possibly damaging Het
Hydin A G 8: 111,334,534 (GRCm39) Y4992C probably benign Het
Ikbke A T 1: 131,191,065 (GRCm39) C549* probably null Het
Insrr G A 3: 87,717,749 (GRCm39) G817S probably benign Het
Itgb5 G A 16: 33,685,923 (GRCm39) V88I probably benign Het
Krt78 A G 15: 101,854,922 (GRCm39) V963A probably benign Het
Lars1 T C 18: 42,376,093 (GRCm39) Y239C possibly damaging Het
Map2k5 A G 9: 63,246,361 (GRCm39) probably null Het
Mfn2 A T 4: 147,974,693 (GRCm39) W118R probably benign Het
Mga T A 2: 119,791,411 (GRCm39) I2550N probably damaging Het
Mgam A G 6: 40,722,111 (GRCm39) I401V possibly damaging Het
Mrps18c A G 5: 100,952,264 (GRCm39) Y141C probably damaging Het
Myo1e A T 9: 70,254,045 (GRCm39) I565L possibly damaging Het
Nfatc4 G A 14: 56,063,848 (GRCm39) E112K probably damaging Het
Nubp1 A G 16: 10,239,486 (GRCm39) M255V probably benign Het
Or13n4 A C 7: 106,423,620 (GRCm39) S38A probably benign Het
Or52a33 A G 7: 103,288,658 (GRCm39) S230P probably damaging Het
Or8g33 C T 9: 39,337,966 (GRCm39) V134I probably benign Het
Pask A T 1: 93,240,573 (GRCm39) C1264* probably null Het
Pcgf2 T C 11: 97,582,569 (GRCm39) T173A probably benign Het
Plcg1 T C 2: 160,595,853 (GRCm39) I574T probably benign Het
Plin4 T C 17: 56,411,437 (GRCm39) T865A probably damaging Het
Pnpt1 T C 11: 29,103,277 (GRCm39) V514A probably benign Het
Ppp1r3a T A 6: 14,719,700 (GRCm39) I405F probably benign Het
Qpctl A G 7: 18,882,398 (GRCm39) V86A probably benign Het
Rab3gap1 G T 1: 127,837,655 (GRCm39) W239L possibly damaging Het
Ralgapa2 T A 2: 146,246,786 (GRCm39) T939S possibly damaging Het
Rapgef2 G T 3: 78,990,509 (GRCm39) T923N possibly damaging Het
Rit2 T A 18: 31,286,898 (GRCm39) I96F probably damaging Het
Rnase13 A T 14: 52,159,893 (GRCm39) I82N probably damaging Het
Rp1 C A 1: 4,417,312 (GRCm39) V1267L probably benign Het
Serpinb9b G A 13: 33,223,554 (GRCm39) E249K probably damaging Het
Serpinb9c G T 13: 33,334,094 (GRCm39) T344K possibly damaging Het
Serpinh1 T C 7: 98,998,151 (GRCm39) I160V possibly damaging Het
Sipa1 A G 19: 5,704,964 (GRCm39) S544P probably damaging Het
Slc17a5 A T 9: 78,478,311 (GRCm39) Y231* probably null Het
Srcap T C 7: 127,148,529 (GRCm39) V1959A probably damaging Het
Srrm4 G A 5: 116,729,626 (GRCm39) probably benign Het
Stat1 T C 1: 52,190,404 (GRCm39) I553T possibly damaging Het
Stpg1 A G 4: 135,256,903 (GRCm39) I231M probably benign Het
Szt2 G GC 4: 118,232,679 (GRCm39) probably null Het
Trpv3 C T 11: 73,170,747 (GRCm39) T209M probably damaging Het
Tsc22d2 G T 3: 58,324,544 (GRCm39) G479C unknown Het
Ttc3 A G 16: 94,267,838 (GRCm39) H1950R probably damaging Het
Tusc3 A G 8: 39,617,882 (GRCm39) *348W probably null Het
Utp4 A T 8: 107,642,853 (GRCm39) T504S probably benign Het
Vmn1r15 A G 6: 57,235,635 (GRCm39) M168V probably benign Het
Wdsub1 C T 2: 59,704,578 (GRCm39) probably benign Het
Xrcc5 T A 1: 72,358,286 (GRCm39) M207K possibly damaging Het
Zc3h7a A T 16: 10,964,417 (GRCm39) probably benign Het
Zdbf2 T A 1: 63,345,750 (GRCm39) N1376K possibly damaging Het
Zfp558 A C 9: 18,368,213 (GRCm39) S192A probably benign Het
Zfp764l1 C T 7: 126,992,496 (GRCm39) C38Y probably null Het
Zfp964 A G 8: 70,115,924 (GRCm39) T175A possibly damaging Het
Zfp988 A G 4: 147,416,765 (GRCm39) R400G probably damaging 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
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'- TGGAATTTGTGCCCCAACCC -3'
(R):5'- CCAGCTTCCAGTAGATAGCC -3'

Sequencing Primer
(F):5'- AATTTGTGCCCCAACCCTTCAAC -3'
(R):5'- AGCCAGAGTAATAATTTTCCTTCAG -3'
Posted On 2020-07-28