Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01304:Clock'

73380

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Clock

Ensembl Gene

ENSMUSG00000029238

Gene Name

circadian locomotor output cycles kaput

Synonyms

5330400M04Rik, bHLHe8, KAT13D

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.631) question?

Stock #

IGL01304

Quality Score

Status

Chromosome

Chromosomal Location

76209868-76304792 bp(-) (GRCm38)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

A to G at 76266355 bp (GRCm38)

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: ENSMUST00000200957

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: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ablim1	A	T	19: 57,215,721	D79E	probably benign	Het
Aplf	A	C	6: 87,641,900	S421A	possibly damaging	Het
Arnt	T	G	3: 95,448,385	D13E	probably damaging	Het
Asap1	T	C	15: 64,312,449	E45G	probably damaging	Het
C2cd2l	T	C	9: 44,319,587	N101S	probably damaging	Het
Chmp7	G	A	14: 69,718,613	P402L	probably benign	Het
Cir1	A	T	2: 73,287,724		probably null	Het
Col18a1	T	G	10: 77,076,141		probably benign	Het
Csf2ra	G	A	19: 61,226,833	H115Y	possibly damaging	Het
Cspg5	T	A	9: 110,256,168	L469H	probably damaging	Het
Dapk2	T	C	9: 66,231,857		probably benign	Het
F13a1	T	C	13: 36,988,878	D176G	probably benign	Het
Fbn2	T	C	18: 58,061,745	E1448G	probably damaging	Het
Gtf2b	C	T	3: 142,781,598	S265L	probably benign	Het
Hmcn1	C	T	1: 150,622,924	G4068D	probably damaging	Het
Krt81	G	A	15: 101,463,388	H104Y	probably benign	Het
Ksr1	T	C	11: 79,027,642	Q562R	probably damaging	Het
Lrif1	C	T	3: 106,731,733	P20S	probably damaging	Het
Mamdc4	T	C	2: 25,563,576	T1194A	possibly damaging	Het
Med18	C	A	4: 132,459,619	A190S	probably damaging	Het
Mia2	G	A	12: 59,104,538	E105K	probably damaging	Het
Mnt	T	A	11: 74,842,185	Y48N	probably damaging	Het
Mpp4	A	C	1: 59,149,519		probably null	Het
Olfr1272	G	A	2: 90,282,081	P165S	possibly damaging	Het
Popdc3	T	G	10: 45,317,909	S269A	probably benign	Het
Ppp6r3	A	T	19: 3,467,261	M662K	probably damaging	Het
Qser1	C	A	2: 104,787,631	Q945H	probably damaging	Het
Rad52	A	G	6: 119,918,633	E198G	probably damaging	Het
Ranbp17	A	G	11: 33,266,147	V867A	possibly damaging	Het
Rdh16	G	T	10: 127,813,496	A274S	probably benign	Het
Slco1a5	G	T	6: 142,242,150	Q488K	probably benign	Het
Snai2	T	C	16: 14,706,771	I47T	probably benign	Het
Snw1	T	C	12: 87,453,915	D358G	possibly damaging	Het
Speg	T	C	1: 75,428,197	F2878L	probably benign	Het
Spert	T	A	14: 75,592,645	D36V	possibly damaging	Het
Spg11	T	C	2: 122,072,290	Y1386C	probably damaging	Het
Tgfb2	A	C	1: 186,625,473	I435S	probably damaging	Het
Ttc9b	G	A	7: 27,655,985	D227N	probably benign	Het
Txndc2	T	C	17: 65,638,453	E243G	possibly damaging	Het
Usp28	A	G	9: 49,026,819	D563G	probably damaging	Het
Vmn1r77	T	C	7: 12,042,035	V178A	probably damaging	Het
Zfp316	A	G	5: 143,254,426	F613L	probably benign	Het
Zfp870	A	T	17: 32,883,006	C450S	possibly damaging	Het

Other mutations in Clock

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00598:Clock	APN	5	76229464	missense	probably benign	0.17
IGL00725:Clock	APN	5	76254413	nonsense	probably null
IGL01369:Clock	APN	5	76237086	missense	probably benign	0.30
IGL01542:Clock	APN	5	76231475	missense	possibly damaging	0.82
IGL02541:Clock	APN	5	76262672	splice site	probably null
IGL02602:Clock	APN	5	76254426	missense	probably null	1.00
IGL02602:Clock	APN	5	76254427	missense	probably damaging	1.00
IGL03186:Clock	APN	5	76243082	missense	probably damaging	0.98
IGL03309:Clock	APN	5	76231394	critical splice donor site	probably null
R6760_Clock_188	UTSW	5	76226976	missense	unknown
uhr	UTSW	5	76229554	nonsense	probably null
R0304:Clock	UTSW	5	76226985	missense	unknown
R0593:Clock	UTSW	5	76265836	missense	probably benign	0.25
R0654:Clock	UTSW	5	76227129	missense	possibly damaging	0.95
R0684:Clock	UTSW	5	76245518	missense	probably damaging	0.96
R0707:Clock	UTSW	5	76227129	missense	possibly damaging	0.95
R0751:Clock	UTSW	5	76229361	missense	possibly damaging	0.75
R0865:Clock	UTSW	5	76266424	splice site	probably benign
R0920:Clock	UTSW	5	76230320	missense	possibly damaging	0.80
R1396:Clock	UTSW	5	76266802	missense	probably benign	0.00
R1450:Clock	UTSW	5	76262731	nonsense	probably null
R1487:Clock	UTSW	5	76266354	splice site	probably null
R1574:Clock	UTSW	5	76242832	missense	probably damaging	1.00
R1574:Clock	UTSW	5	76242832	missense	probably damaging	1.00
R1858:Clock	UTSW	5	76240909	missense	possibly damaging	0.92
R1872:Clock	UTSW	5	76248462	missense	possibly damaging	0.67
R1905:Clock	UTSW	5	76266888	splice site	probably benign
R1937:Clock	UTSW	5	76229493	missense	probably damaging	0.99
R2411:Clock	UTSW	5	76231513	missense	probably benign	0.08
R2887:Clock	UTSW	5	76245273	missense	probably damaging	0.99
R3410:Clock	UTSW	5	76229554	nonsense	probably null
R4514:Clock	UTSW	5	76230199	missense	probably benign	0.00
R4598:Clock	UTSW	5	76235810	missense	probably benign	0.00
R4599:Clock	UTSW	5	76235810	missense	probably benign	0.00
R4795:Clock	UTSW	5	76265916	missense	probably damaging	1.00
R4796:Clock	UTSW	5	76265916	missense	probably damaging	1.00
R4973:Clock	UTSW	5	76254411	missense	possibly damaging	0.62
R5204:Clock	UTSW	5	76243170	splice site	probably null
R5271:Clock	UTSW	5	76241954	missense	probably damaging	1.00
R5547:Clock	UTSW	5	76230338	missense	probably benign	0.02
R5630:Clock	UTSW	5	76230338	missense	probably benign	0.02
R5631:Clock	UTSW	5	76230338	missense	probably benign	0.02
R5632:Clock	UTSW	5	76230338	missense	probably benign	0.02
R5787:Clock	UTSW	5	76237051	missense	probably damaging	1.00
R6274:Clock	UTSW	5	76237153	missense	probably benign	0.45
R6578:Clock	UTSW	5	76216709	missense	unknown
R6622:Clock	UTSW	5	76241954	missense	probably damaging	1.00
R6760:Clock	UTSW	5	76226976	missense	unknown
R6793:Clock	UTSW	5	76237120	frame shift	probably null
R7406:Clock	UTSW	5	76266845	start codon destroyed	probably null	0.26
R7414:Clock	UTSW	5	76262764	missense	probably benign	0.00
R7560:Clock	UTSW	5	76242891	splice site	probably null
R7593:Clock	UTSW	5	76236298	missense	possibly damaging	0.80
R7640:Clock	UTSW	5	76248378	missense	possibly damaging	0.71
R7708:Clock	UTSW	5	76266409	missense	probably benign	0.00
R7713:Clock	UTSW	5	76245420	critical splice donor site	probably null
R7807:Clock	UTSW	5	76243135	missense	probably benign	0.01
R8171:Clock	UTSW	5	76266414	missense	possibly damaging	0.94
R8190:Clock	UTSW	5	76227204	missense	probably damaging	0.98
R8225:Clock	UTSW	5	76241912	missense	probably damaging	0.99
R8309:Clock	UTSW	5	76254422	missense	probably benign	0.07
R8557:Clock	UTSW	5	76229370	missense	probably damaging	1.00
R8792:Clock	UTSW	5	76262727	missense	probably damaging	1.00
R8869:Clock	UTSW	5	76227042	small deletion	probably benign
R8870:Clock	UTSW	5	76235785	missense	probably benign	0.17
R8980:Clock	UTSW	5	76254439	missense	probably benign	0.01
R8982:Clock	UTSW	5	76216712	missense	unknown
R9177:Clock	UTSW	5	76229409	missense	probably benign	0.00
R9208:Clock	UTSW	5	76237024	missense	probably benign	0.00
R9213:Clock	UTSW	5	76245529	missense	possibly damaging	0.94
R9307:Clock	UTSW	5	76216824	missense	unknown
R9446:Clock	UTSW	5	76248441	missense	probably benign	0.00
R9516:Clock	UTSW	5	76229380	missense	possibly damaging	0.85
R9572:Clock	UTSW	5	76229491	missense	probably benign	0.00
R9630:Clock	UTSW	5	76245434	missense	probably benign	0.03

Posted On

2013-10-07