Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03309:Clock'

416508

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Clock

Ensembl Gene

ENSMUSG00000029238

Gene Name

clock circadian regulator

Synonyms

bHLHe8, KAT13D, 5330400M04Rik

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.728) question?

Stock #

IGL03309

Quality Score

Status

Chromosome

Chromosomal Location

76357715-76452639 bp(-) (GRCm39)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

A to G at 76379241 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

noncoding transcript
Transcript: ENSMUST00000201768

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000202857

Coding Region Coverage

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: 33 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadac	A	G	3: 59,947,303 (GRCm39)	T334A	possibly damaging	Het
Armc9	A	G	1: 86,202,155 (GRCm39)	E771G	possibly damaging	Het
Cd207	G	T	6: 83,654,735 (GRCm39)	T16K	possibly damaging	Het
Cd44	C	T	2: 102,644,522 (GRCm39)	E421K	probably damaging	Het
Cfap221	A	G	1: 119,862,331 (GRCm39)	Y584H	probably damaging	Het
Clpx	T	G	9: 65,229,974 (GRCm39)	L474R	probably damaging	Het
Cntd1	T	C	11: 101,175,590 (GRCm39)	V143A	probably damaging	Het
Cttnbp2	A	G	6: 18,381,035 (GRCm39)	V877A	probably damaging	Het
Dlx6	G	T	6: 6,867,289 (GRCm39)	M158I	possibly damaging	Het
Fank1	A	G	7: 133,463,902 (GRCm39)	T33A	probably damaging	Het
Fbf1	A	G	11: 116,038,637 (GRCm39)	L828P	probably damaging	Het
Fh1	A	T	1: 175,431,609 (GRCm39)	S426T	probably benign	Het
Gabrg3	G	T	7: 56,632,433 (GRCm39)	Q172K	probably damaging	Het
Glipr1l1	A	G	10: 111,908,141 (GRCm39)		probably benign	Het
Hypk	T	A	2: 121,288,673 (GRCm39)	L113*	probably null	Het
Hypk	G	T	2: 121,288,674 (GRCm39)	L113F	probably damaging	Het
Ipo5	G	A	14: 121,157,416 (GRCm39)	V85I	probably benign	Het
Kif1a	A	T	1: 92,986,579 (GRCm39)	Y575*	probably null	Het
Morf4l1	T	A	9: 89,985,798 (GRCm39)	E60V	probably benign	Het
Or52ac1	A	G	7: 104,246,248 (GRCm39)	F47L	probably benign	Het
Or6c6	A	T	10: 129,187,178 (GRCm39)	T249S	probably benign	Het
Parp4	A	T	14: 56,825,265 (GRCm39)	T130S	probably benign	Het
Prkd1	A	G	12: 50,435,207 (GRCm39)	Y507H	probably damaging	Het
Psme2b	A	C	11: 48,836,626 (GRCm39)		probably null	Het
Rbm44	T	C	1: 91,096,562 (GRCm39)		probably null	Het
Rngtt	C	A	4: 33,339,091 (GRCm39)	R299S	probably damaging	Het
Ros1	A	G	10: 51,994,357 (GRCm39)	S1308P	possibly damaging	Het
Rpl3l	A	G	17: 24,954,998 (GRCm39)	K398E	possibly damaging	Het
Scube3	C	T	17: 28,383,331 (GRCm39)	R374*	probably null	Het
Srcap	A	G	7: 127,129,965 (GRCm39)	T616A	probably damaging	Het
Stk3	G	A	15: 35,099,697 (GRCm39)		probably benign	Het
Tas2r124	A	T	6: 132,731,898 (GRCm39)	D69V	probably benign	Het
Zbtb41	T	A	1: 139,359,816 (GRCm39)		probably null	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
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
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

Posted On

2016-08-02