Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02677:Per1'

303179

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Per1

Ensembl Gene

ENSMUSG00000020893

Gene Name

period circadian clock 1

Synonyms

mPer1, m-rigui

Accession Numbers

Genbank: NM_011065; MGI:1098283

Is this an essential gene?

Possibly essential (E-score: 0.589) question?

Stock #

IGL02677

Quality Score

Status

Chromosome

Chromosomal Location

69095217-69109960 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 69106660 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 887 (V887A)

Ref Sequence

ENSEMBL: ENSMUSP00000132635 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000021271] [ENSMUST00000101004] [ENSMUST00000102605] [ENSMUST00000142392] [ENSMUST00000166748]

AlphaFold

O35973

Predicted Effect

probably benign
Transcript: ENSMUST00000021271
AA Change: V887A

PolyPhen 2 Score 0.072 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000021271
Gene: ENSMUSG00000020893
AA Change: V887A

Domain	Start	End	E-Value	Type
low complexity region	48	115	N/A	INTRINSIC
low complexity region	142	154	N/A	INTRINSIC
PAS	208	275	4.19e0	SMART
PAS	348	414	1.12e-4	SMART
PAC	422	465	1.6e0	SMART
low complexity region	473	481	N/A	INTRINSIC
low complexity region	513	543	N/A	INTRINSIC
low complexity region	571	578	N/A	INTRINSIC
low complexity region	652	666	N/A	INTRINSIC
low complexity region	747	772	N/A	INTRINSIC
low complexity region	794	808	N/A	INTRINSIC
low complexity region	817	844	N/A	INTRINSIC
low complexity region	852	877	N/A	INTRINSIC
low complexity region	890	901	N/A	INTRINSIC
low complexity region	945	972	N/A	INTRINSIC
low complexity region	996	1013	N/A	INTRINSIC
Pfam:Period_C	1031	1222	1.5e-78	PFAM
low complexity region	1270	1280	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000101004

SMART Domains

Protein: ENSMUSP00000098566
Gene: ENSMUSG00000020893

Domain	Start	End	E-Value	Type
low complexity region	48	115	N/A	INTRINSIC
low complexity region	142	154	N/A	INTRINSIC
PAS	208	275	4.19e0	SMART
PAS	348	414	1.12e-4	SMART
PAC	422	465	1.6e0	SMART
low complexity region	473	481	N/A	INTRINSIC
low complexity region	513	543	N/A	INTRINSIC
low complexity region	571	578	N/A	INTRINSIC
low complexity region	652	666	N/A	INTRINSIC
low complexity region	747	772	N/A	INTRINSIC
low complexity region	794	808	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000102605
AA Change: V867A

PolyPhen 2 Score 0.072 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000099665
Gene: ENSMUSG00000020893
AA Change: V867A

Domain	Start	End	E-Value	Type
low complexity region	48	115	N/A	INTRINSIC
low complexity region	142	154	N/A	INTRINSIC
Blast:PAS	203	255	1e-23	BLAST
PAS	328	394	1.12e-4	SMART
PAC	402	445	1.6e0	SMART
low complexity region	453	461	N/A	INTRINSIC
low complexity region	493	523	N/A	INTRINSIC
low complexity region	551	558	N/A	INTRINSIC
low complexity region	632	646	N/A	INTRINSIC
low complexity region	727	752	N/A	INTRINSIC
low complexity region	774	788	N/A	INTRINSIC
low complexity region	797	824	N/A	INTRINSIC
low complexity region	832	857	N/A	INTRINSIC
low complexity region	870	881	N/A	INTRINSIC
low complexity region	925	952	N/A	INTRINSIC
low complexity region	976	993	N/A	INTRINSIC
Pfam:Period_C	1011	1210	7.5e-75	PFAM
low complexity region	1250	1260	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000142392

SMART Domains

Protein: ENSMUSP00000121713
Gene: ENSMUSG00000020893

Domain	Start	End	E-Value	Type
low complexity region	48	115	N/A	INTRINSIC
low complexity region	142	154	N/A	INTRINSIC
PAS	208	275	4.19e0	SMART
PAS	348	414	1.12e-4	SMART
PAC	422	465	1.6e0	SMART
low complexity region	473	481	N/A	INTRINSIC
low complexity region	513	543	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000166748
AA Change: V887A

PolyPhen 2 Score 0.072 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000132635
Gene: ENSMUSG00000020893
AA Change: V887A

Domain	Start	End	E-Value	Type
low complexity region	48	115	N/A	INTRINSIC
low complexity region	142	154	N/A	INTRINSIC
PAS	208	275	4.19e0	SMART
PAS	348	414	1.12e-4	SMART
PAC	422	465	1.6e0	SMART
low complexity region	473	481	N/A	INTRINSIC
low complexity region	513	543	N/A	INTRINSIC
low complexity region	571	578	N/A	INTRINSIC
low complexity region	652	666	N/A	INTRINSIC
low complexity region	747	772	N/A	INTRINSIC
low complexity region	794	808	N/A	INTRINSIC
low complexity region	817	844	N/A	INTRINSIC
low complexity region	852	877	N/A	INTRINSIC
low complexity region	890	901	N/A	INTRINSIC
low complexity region	945	972	N/A	INTRINSIC
low complexity region	996	1013	N/A	INTRINSIC
Pfam:Period_C	1031	1230	5.2e-75	PFAM
low complexity region	1270	1280	N/A	INTRINSIC

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: This gene is a member of the Period family of genes and is expressed in a circadian pattern in the suprachiasmatic nucleus, the primary circadian pacemaker in the mammalian brain. Genes in this family encode components of the circadian rhythms of locomotor activity, metabolism, and behavior. This gene is upregulated by Clock/Arntl heterodimers but then represses this upregulation in a feedback loop using Per/Cry heterodimers to interact with Clock/Arntl. Polymorphisms in this gene may increase the risk of getting certain cancers. Two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jan 2014]
PHENOTYPE: Homozygous null mice display a persistent circadian rhythm, but they have a shorter period and their ability to maintain the precision and the stability of the period is impaired. [provided by MGI curators]

Allele List at MGI

All alleles(8) : Targeted, knock-out(3) Gene trapped(5)

Other mutations in this stock

Total: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4931406B18Rik	G	T	7: 43,501,095	Y84*	probably null	Het
4931406P16Rik	T	A	7: 34,242,409		probably benign	Het
Adam5	A	G	8: 24,812,379		probably benign	Het
Aipl1	T	C	11: 72,029,396	E282G	possibly damaging	Het
Akp3	A	G	1: 87,125,272	D61G	probably damaging	Het
Anpep	A	G	7: 79,838,730	S451P	probably damaging	Het
Csnka2ip	A	G	16: 64,478,312	L119P	probably damaging	Het
Ddx19a	T	C	8: 110,989,609	E53G	probably benign	Het
Ddx50	C	T	10: 62,616,293	R116Q	unknown	Het
Ddx60	A	T	8: 61,988,132	E1078D	probably damaging	Het
Dpy19l1	T	C	9: 24,485,072	D116G	probably damaging	Het
Dsg4	A	G	18: 20,464,876	T668A	possibly damaging	Het
Dspp	A	G	5: 104,175,977	T329A	possibly damaging	Het
Eftud2	T	C	11: 102,846,614	T554A	probably damaging	Het
Enpp1	T	C	10: 24,679,185		probably benign	Het
Ext2	A	T	2: 93,707,245	F599I	probably damaging	Het
Fahd1	A	T	17: 24,849,530	I191N	probably damaging	Het
Fcrls	A	T	3: 87,259,387	S100T	probably benign	Het
Fras1	T	A	5: 96,545,024	C181S	probably damaging	Het
Gcnt4	A	G	13: 96,947,233	I346V	probably benign	Het
Gfra1	G	A	19: 58,453,355	T48I	probably damaging	Het
Kcnma1	A	G	14: 23,463,156	Y392H	probably damaging	Het
Klc2	T	C	19: 5,111,668	Y298C	probably damaging	Het
Lamb3	G	A	1: 193,339,522	V1011I	probably benign	Het
Ldb1	T	C	19: 46,036,155		probably benign	Het
Mcph1	A	G	8: 18,625,593	K11E	probably damaging	Het
Myc	A	G	15: 61,989,664	H374R	probably damaging	Het
Myom1	A	G	17: 71,084,349	Y853C	probably damaging	Het
Olfr1282	A	T	2: 111,335,802	I92N	probably damaging	Het
Pakap	C	T	4: 57,856,263	P572S	probably benign	Het
Pclo	A	G	5: 14,676,929		probably benign	Het
Pde3a	G	A	6: 141,405,172		probably benign	Het
Prokr1	G	A	6: 87,588,368		probably benign	Het
Rb1cc1	A	G	1: 6,249,419	I1021V	probably benign	Het
Ryr1	T	C	7: 29,110,608	E344G	probably benign	Het
Sec24c	A	T	14: 20,689,642	D529V	probably damaging	Het
Slc1a6	T	C	10: 78,789,064	V101A	probably damaging	Het
Srrm1	G	A	4: 135,325,104	P658L	unknown	Het
Tap2	G	A	17: 34,212,047	V374M	probably benign	Het
Tex15	T	A	8: 33,571,080	D179E	probably benign	Het
Tmem8b	T	C	4: 43,686,092	L241P	probably damaging	Het
Tmprss11g	T	C	5: 86,492,290	D160G	probably benign	Het
Trim30a	C	T	7: 104,435,913	C30Y	probably damaging	Het
Ttn	A	G	2: 76,771,496		probably benign	Het
Ush2a	A	G	1: 188,734,685	R2849G	probably damaging	Het
Usp5	A	G	6: 124,819,426	V570A	probably damaging	Het
Vipr1	T	C	9: 121,660,283		probably benign	Het
Zc2hc1c	A	C	12: 85,290,076	D169A	probably benign	Het

Other mutations in Per1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01817:Per1	APN	11	69104199	missense	probably damaging	1.00
IGL01907:Per1	APN	11	69105599	missense	probably benign	0.00
IGL02078:Per1	APN	11	69104299	missense	probably damaging	1.00
IGL02296:Per1	APN	11	69102175	missense	probably damaging	1.00
0152:Per1	UTSW	11	69104022	splice site	probably benign
IGL03048:Per1	UTSW	11	69104726	missense	probably damaging	0.99
P0043:Per1	UTSW	11	69102043	splice site	probably benign
R0089:Per1	UTSW	11	69104043	missense	probably benign	0.27
R0116:Per1	UTSW	11	69101880	splice site	probably benign
R0395:Per1	UTSW	11	69102277	missense	probably damaging	1.00
R0531:Per1	UTSW	11	69104190	missense	probably damaging	1.00
R0681:Per1	UTSW	11	69101201	missense	probably damaging	1.00
R0788:Per1	UTSW	11	69101359	splice site	probably benign
R1233:Per1	UTSW	11	69102211	missense	probably damaging	1.00
R1554:Per1	UTSW	11	69103627	missense	probably damaging	1.00
R3793:Per1	UTSW	11	69109301	missense	probably benign	0.30
R4706:Per1	UTSW	11	69100618	start gained	probably benign
R4716:Per1	UTSW	11	69101231	missense	probably damaging	1.00
R4965:Per1	UTSW	11	69104401	missense	probably benign	0.06
R5111:Per1	UTSW	11	69100786	missense	probably damaging	1.00
R5270:Per1	UTSW	11	69103598	missense	probably benign
R5583:Per1	UTSW	11	69103445	missense	probably damaging	1.00
R5588:Per1	UTSW	11	69107627	missense	probably damaging	1.00
R6184:Per1	UTSW	11	69102904	missense	probably damaging	1.00
R6430:Per1	UTSW	11	69104296	missense	probably damaging	1.00
R6819:Per1	UTSW	11	69101458	missense	probably damaging	1.00
R6911:Per1	UTSW	11	69103257	missense	probably damaging	1.00
R7158:Per1	UTSW	11	69104104	unclassified	probably benign
R7340:Per1	UTSW	11	69103182	missense	probably damaging	1.00
R7438:Per1	UTSW	11	69104735	missense	possibly damaging	0.79
R7513:Per1	UTSW	11	69105571	missense	probably benign	0.00
R7555:Per1	UTSW	11	69106513	missense	probably damaging	1.00
R7921:Per1	UTSW	11	69100779	missense	probably damaging	1.00
R8059:Per1	UTSW	11	69106483	missense	probably damaging	1.00
R8345:Per1	UTSW	11	69107556	missense	possibly damaging	0.63
R8408:Per1	UTSW	11	69109127	missense	possibly damaging	0.86
R9208:Per1	UTSW	11	69104810	missense	possibly damaging	0.50
R9424:Per1	UTSW	11	69108029	missense	probably damaging	0.98
R9555:Per1	UTSW	11	69104748	missense	probably benign	0.00
R9576:Per1	UTSW	11	69108029	missense	probably damaging	0.98
R9616:Per1	UTSW	11	69102728	missense	probably damaging	1.00
R9712:Per1	UTSW	11	69100649	missense	probably benign	0.38
X0023:Per1	UTSW	11	69103124	missense	probably damaging	1.00

Posted On

2015-04-16