Mutagenetix > Incidental Mutation

Incidental Mutation 'R7560:Clock'

586006

Institutional Source

Beutler Lab

Gene Symbol

Clock

Ensembl Gene

ENSMUSG00000029238

Gene Name

clock circadian regulator

Synonyms

bHLHe8, KAT13D, 5330400M04Rik

MMRRC Submission

045626-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.728) question?

Stock #

R7560 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

76357715-76452639 bp(-) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

A to T at 76390738 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000143939 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000075159] [ENSMUST00000202122] [ENSMUST00000202651]

AlphaFold

O08785

Predicted Effect

probably null
Transcript: ENSMUST00000075159

SMART Domains

Protein: ENSMUSP00000074656
Gene: ENSMUSG00000029238

Domain	Start	End	E-Value	Type
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 null
Transcript: ENSMUST00000202122

SMART Domains

Protein: ENSMUSP00000144022
Gene: ENSMUSG00000029238

Domain	Start	End	E-Value	Type
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 null
Transcript: ENSMUST00000202651

SMART Domains

Protein: ENSMUSP00000143939
Gene: ENSMUSG00000029238

Domain	Start	End	E-Value	Type
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: 99.4%

Validation Efficiency

100% (100/100)

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: 101 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acot12	A	G	13: 91,932,510 (GRCm39)	D502G	probably benign	Het
Adrb1	T	C	19: 56,711,120 (GRCm39)	V106A	probably damaging	Het
Ahcyl2	G	T	6: 29,886,139 (GRCm39)	G352W	probably damaging	Het
Ahnak2	T	G	12: 112,745,851 (GRCm39)	D446A		Het
Arhgap42	T	C	9: 9,035,532 (GRCm39)	D270G	probably benign	Het
Atp2a1	A	G	7: 126,058,828 (GRCm39)	V129A	possibly damaging	Het
B9d2	G	A	7: 25,380,784 (GRCm39)		probably benign	Het
Bace1	A	T	9: 45,767,437 (GRCm39)	I207F	possibly damaging	Het
Blnk	T	A	19: 40,940,834 (GRCm39)	I190F	possibly damaging	Het
Bmp7	C	T	2: 172,781,757 (GRCm39)	E36K	possibly damaging	Het
Brsk2	A	G	7: 141,554,597 (GRCm39)	E654G	probably benign	Het
Cacna2d3	T	C	14: 28,780,378 (GRCm39)	H661R	probably benign	Het
Cdh4	T	C	2: 179,532,695 (GRCm39)	V719A	probably benign	Het
Cdkn2d	G	T	9: 21,200,540 (GRCm39)	P77H	probably damaging	Het
Chd3	A	G	11: 69,247,096 (GRCm39)	V1024A	probably damaging	Het
Chsy1	T	A	7: 65,820,992 (GRCm39)	M409K	possibly damaging	Het
Chsy1	T	C	7: 65,821,319 (GRCm39)	L518P	probably damaging	Het
Cic	G	A	7: 24,972,278 (GRCm39)	V670M	probably damaging	Het
Coro1a	C	A	7: 126,302,306 (GRCm39)	V14L	probably damaging	Het
Ctcfl	C	A	2: 172,960,199 (GRCm39)	C128F	probably damaging	Het
Cyb5b	A	G	8: 107,896,491 (GRCm39)	T71A	probably damaging	Het
Cyp2c40	C	G	19: 39,795,658 (GRCm39)	V174L	possibly damaging	Het
D630045J12Rik	T	A	6: 38,173,562 (GRCm39)	Q202L	possibly damaging	Het
Dgkz	T	C	2: 91,773,160 (GRCm39)		probably benign	Het
Dlgap2	T	C	8: 14,872,697 (GRCm39)		probably null	Het
Dnah1	T	C	14: 31,026,940 (GRCm39)	I695V	probably benign	Het
Dst	T	A	1: 34,221,532 (GRCm39)	S2445R	possibly damaging	Het
Elob	T	C	17: 24,043,950 (GRCm39)	D83G	probably benign	Het
Elp4	T	A	2: 105,624,933 (GRCm39)	D320V	probably damaging	Het
Enpp5	G	A	17: 44,396,155 (GRCm39)	G356S	probably damaging	Het
Etfdh	T	C	3: 79,530,886 (GRCm39)	Y45C	probably damaging	Het
Exph5	A	G	9: 53,287,073 (GRCm39)	I1385V	probably benign	Het
Fat3	A	T	9: 15,908,138 (GRCm39)	D2621E	probably damaging	Het
Fbxl6	G	T	15: 76,422,669 (GRCm39)	A83D	probably benign	Het
Fmo2	A	G	1: 162,716,318 (GRCm39)	Y90H	probably damaging	Het
Fzd4	T	A	7: 89,056,761 (GRCm39)	Y269*	probably null	Het
Grik5	T	A	7: 24,757,951 (GRCm39)	I377F	probably damaging	Het
Havcr2	C	A	11: 46,349,889 (GRCm39)	P137Q	probably damaging	Het
Hectd4	A	G	5: 121,392,405 (GRCm39)	N223S	possibly damaging	Het
Hmcn2	A	G	2: 31,347,185 (GRCm39)	S4792G	probably benign	Het
Hps3	T	G	3: 20,084,616 (GRCm39)	I191L	probably benign	Het
Ica1l	T	A	1: 60,049,369 (GRCm39)	K195*	probably null	Het
Idh2	TCCCAGGGCC	TCC	7: 79,748,079 (GRCm39)		probably null	Het
Ift140	A	G	17: 25,311,315 (GRCm39)	D1170G	probably benign	Het
Igflr1	T	C	7: 30,266,776 (GRCm39)	F208S	possibly damaging	Het
Kcnma1	T	C	14: 23,580,310 (GRCm39)	T313A	probably benign	Het
Krt6a	T	A	15: 101,598,994 (GRCm39)	I524F	unknown	Het
Lce1d	G	T	3: 92,593,148 (GRCm39)	H88Q	unknown	Het
Lrmda	A	G	14: 22,878,770 (GRCm39)	E177G	probably benign	Het
Lrrn3	T	A	12: 41,502,712 (GRCm39)	N535I	possibly damaging	Het
Map2k4	T	A	11: 65,666,583 (GRCm39)	I40L	unknown	Het
Map7d1	A	G	4: 126,130,429 (GRCm39)	L459P	probably damaging	Het
Mipol1	A	T	12: 57,352,859 (GRCm39)	N66I	possibly damaging	Het
Mycn	A	C	12: 12,990,292 (GRCm39)	F35V	probably benign	Het
Mzt2	A	C	16: 15,680,669 (GRCm39)	M40R	possibly damaging	Het
N4bp2	T	G	5: 65,948,458 (GRCm39)	L363V	probably damaging	Het
Nfat5	T	A	8: 108,097,221 (GRCm39)	M1532K	probably benign	Het
Notch1	G	A	2: 26,350,177 (GRCm39)	T2321M	probably benign	Het
Nr1h4	T	C	10: 89,334,123 (GRCm39)	D89G	probably benign	Het
Nsun4	G	A	4: 115,908,691 (GRCm39)	T623I	possibly damaging	Het
Nup155	T	C	15: 8,184,531 (GRCm39)	S1309P	probably benign	Het
Or4e1	T	C	14: 52,700,851 (GRCm39)	N205S	probably damaging	Het
Or51f5	T	C	7: 102,430,889 (GRCm39)	S69P	probably damaging	Het
Or8h10	T	C	2: 86,809,122 (GRCm39)	Y6C	probably benign	Het
Pcsk5	A	G	19: 17,814,336 (GRCm39)	F61L	probably benign	Het
Phrf1	A	T	7: 140,811,138 (GRCm39)		probably null	Het
Pkd1	G	A	17: 24,792,605 (GRCm39)	E1431K	probably benign	Het
Pkd2	T	A	5: 104,628,219 (GRCm39)	I431N	probably damaging	Het
Plcb2	A	G	2: 118,546,124 (GRCm39)	L557P	probably damaging	Het
Poteg	A	G	8: 27,984,988 (GRCm39)	N449S	probably benign	Het
Ppargc1b	C	A	18: 61,445,281 (GRCm39)	G192W	probably damaging	Het
Rab13	T	C	3: 90,132,206 (GRCm39)	S178P	probably benign	Het
Ralgds	A	G	2: 28,437,607 (GRCm39)	D571G	probably damaging	Het
Ror2	A	G	13: 53,264,849 (GRCm39)	S748P	probably benign	Het
Sart1	A	T	19: 5,434,905 (GRCm39)	L167Q	probably damaging	Het
Septin12	A	G	16: 4,810,055 (GRCm39)	V160A	possibly damaging	Het
Sgo1	T	C	17: 53,986,295 (GRCm39)	S299G	probably benign	Het
Shoc1	T	C	4: 59,076,140 (GRCm39)	N601S	possibly damaging	Het
Slc35b4	T	A	6: 34,140,296 (GRCm39)	D152V	probably benign	Het
Spata31h1	T	C	10: 82,120,449 (GRCm39)	Y4187C	probably damaging	Het
Specc1	T	A	11: 62,019,235 (GRCm39)		probably null	Het
Synj1	G	A	16: 90,737,371 (GRCm39)	T1308I	probably benign	Het
Thap12	T	G	7: 98,359,438 (GRCm39)	L106V	probably damaging	Het
Togaram1	T	C	12: 65,057,916 (GRCm39)	M1501T	possibly damaging	Het
Top2a	G	T	11: 98,891,663 (GRCm39)	N1153K	probably benign	Het
Trpm5	A	G	7: 142,634,723 (GRCm39)	L658P	probably damaging	Het
Ttc21b	G	A	2: 66,047,548 (GRCm39)	A849V	possibly damaging	Het
Vcf1	C	T	11: 113,554,215 (GRCm39)	G160D	probably damaging	Het
Vmn1r80	A	T	7: 11,927,750 (GRCm39)	I287F	probably damaging	Het
Vmn1r87	T	C	7: 12,865,745 (GRCm39)	S181G	probably damaging	Het
Vmn2r71	A	T	7: 85,273,115 (GRCm39)	H643L	probably benign	Het
Washc5	G	A	15: 59,238,041 (GRCm39)	R228C	probably damaging	Het
Wdr72	T	C	9: 74,117,408 (GRCm39)	S719P	probably damaging	Het
Xrcc3	G	T	12: 111,774,336 (GRCm39)	D164E	probably benign	Het
Zc2hc1b	G	A	10: 13,044,529 (GRCm39)	R45C	probably damaging	Het
Zfp335	A	G	2: 164,737,912 (GRCm39)	Y900H	probably damaging	Het
Zfp512b	G	A	2: 181,228,875 (GRCm39)	R697C	probably damaging	Het
Zfp60	T	C	7: 27,448,561 (GRCm39)	Y410H	probably damaging	Het
Zfp60	T	A	7: 27,448,696 (GRCm39)	C455S	probably damaging	Het
Zfp605	C	T	5: 110,275,157 (GRCm39)	Q92*	probably null	Het
Zfp64	C	T	2: 168,767,585 (GRCm39)	D676N	probably damaging	Het

Other mutations in Clock

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
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
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'- AGAACAAAGCGTCTACTTCTGTG -3'
(R):5'- GGAAATGTGTACTGTTGAAGAACC -3'

Sequencing Primer
(F):5'- AGCGTCTACTTCTGTGTTTTTAAAC -3'
(R):5'- CATCTAGACACAGTTTAGAATGGAAG -3'

Posted On

2019-10-18