Mutagenetix > Incidental Mutations

Incidental Mutation 'R4993:Noct'

384977

Institutional Source

Beutler Lab

Gene Symbol

Noct

Ensembl Gene

ENSMUSG00000023087

Gene Name

nocturnin

Synonyms

Ccrn4l, Ccr4

MMRRC Submission

042587-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.155) question?

Stock #

R4993 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

51224447-51251644 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 51250021 bp

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 260 (T260I)

Ref Sequence

ENSEMBL: ENSMUSP00000130347 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000023849] [ENSMUST00000144826] [ENSMUST00000167780] [ENSMUST00000193018] [ENSMUST00000194641]

Predicted Effect

probably damaging
Transcript: ENSMUST00000023849
AA Change: T260I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000023849
Gene: ENSMUSG00000023087
AA Change: T260I

Domain	Start	End	E-Value	Type
low complexity region	48	58	N/A	INTRINSIC
Pfam:Exo_endo_phos	144	412	3.6e-31	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000144826
AA Change: T196I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000141416
Gene: ENSMUSG00000023087
AA Change: T196I

Domain	Start	End	E-Value	Type
Pfam:Exo_endo_phos	80	348	6.7e-27	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000167780
AA Change: T260I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000130347
Gene: ENSMUSG00000023087
AA Change: T260I

Domain	Start	End	E-Value	Type
low complexity region	48	58	N/A	INTRINSIC
Pfam:Exo_endo_phos	144	412	5.7e-29	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000193018

SMART Domains

Protein: ENSMUSP00000142216
Gene: ENSMUSG00000023087

Domain	Start	End	E-Value	Type
SCOP:d1hd7a_	52	84	4e-3	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000194641

SMART Domains

Protein: ENSMUSP00000141197
Gene: ENSMUSG00000037174

Domain	Start	End	E-Value	Type
Pfam:Elf-1_N	2	108	1.2e-37	PFAM
low complexity region	142	154	N/A	INTRINSIC
low complexity region	172	181	N/A	INTRINSIC
ETS	207	294	1.28e-51	SMART
low complexity region	369	391	N/A	INTRINSIC
low complexity region	423	433	N/A	INTRINSIC

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.8%
20x: 94.0%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is highly similar to Nocturnin, a gene identified as a circadian clock regulated gene in Xenopus laevis. This protein and Nocturnin protein share similarity with the C-terminal domain of a yeast transcription factor, carbon catabolite repression 4 (CCR4). The mRNA abundance of a similar gene in mouse has been shown to exhibit circadian rhythmicity, which suggests a role for this protein in clock function or as a circadian clock effector. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a null allele are resistant to diet-induced obesity and fatty liver development, show increased circulating glucose levels and increased insulin sensitivity on a standard diet and have impaired glucose tolerance on a high fat diet. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 91 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930505A04Rik	C	T	11: 30,426,349	V173M	probably damaging	Het
9130008F23Rik	G	T	17: 40,880,161	Q126K	probably benign	Het
Abca15	C	A	7: 120,401,718	N1492K	probably damaging	Het
Afap1l2	C	T	19: 56,918,040	D402N	probably damaging	Het
Akap11	A	G	14: 78,512,968	F660L	probably damaging	Het
Bcl3	T	C	7: 19,820,177	T89A	probably benign	Het
Bub1b	T	C	2: 118,636,770	I858T	possibly damaging	Het
Cdk19	A	G	10: 40,476,218	D288G	possibly damaging	Het
Cyp2d34	T	A	15: 82,618,329	D202V	probably damaging	Het
Dip2c	T	G	13: 9,575,223	Y584*	probably null	Het
Dpf3	A	T	12: 83,331,861		probably null	Het
Drp2	G	A	X: 134,441,316	R567H	probably damaging	Homo
Emid1	G	T	11: 5,131,512	Q212K	probably benign	Het
Esm1	C	T	13: 113,213,399	Q118*	probably null	Het
Fahd2a	T	G	2: 127,436,364	I308L	probably benign	Het
Fam208a	T	A	14: 27,429,114	W16R	possibly damaging	Het
Fanci	T	C	7: 79,435,378	*851Q	probably null	Het
Fastkd1	C	A	2: 69,702,740	V428F	probably damaging	Het
Fat2	A	T	11: 55,283,092	I2265N	probably damaging	Het
Gale	C	A	4: 135,966,860	H191Q	probably damaging	Het
Ghsr	T	A	3: 27,372,254	V153E	possibly damaging	Het
Gm10696	C	T	3: 94,176,316	G63R	probably damaging	Het
Gpc6	A	G	14: 117,624,539	N289S	possibly damaging	Het
Hoxb6	A	T	11: 96,300,711	Y153F	probably damaging	Het
Ints3	T	C	3: 90,415,507	T139A	probably benign	Het
Irf2bp2	A	G	8: 126,592,671	S256P	probably benign	Het
Klf4	G	T	4: 55,530,640	P148Q	probably damaging	Het
Loxl1	T	G	9: 58,312,537	H117P	probably damaging	Het
Lpl	A	G	8: 68,895,793	K225E	probably benign	Het
Lrba	T	A	3: 86,360,037	V1678D	probably damaging	Het
Med1	A	T	11: 98,163,904	F398Y	probably damaging	Het
Mfap2	T	C	4: 141,015,578	*186Q	probably null	Het
Mfsd3	T	C	15: 76,701,982	L105P	probably damaging	Het
Mlxip	T	G	5: 123,395,294	I122S	probably damaging	Het
Mmrn2	A	T	14: 34,396,398	Y107F	probably damaging	Het
Mtg1	G	T	7: 140,140,283	D88Y	probably null	Het
Mutyh	T	A	4: 116,817,935	S426R	probably benign	Het
Myo16	C	T	8: 10,476,094	T878I	probably damaging	Het
Myo9a	T	A	9: 59,861,472	Y912*	probably null	Het
Ncor1	A	C	11: 62,343,341	I669R	probably damaging	Het
Ndufs1	T	C	1: 63,163,776	I210V	probably benign	Het
Nek9	A	G	12: 85,310,420	C657R	probably damaging	Het
Nr1h4	A	T	10: 89,498,180	M102K	probably benign	Het
Obscn	G	A	11: 59,124,761	R1054C	possibly damaging	Het
Olfr1124	T	A	2: 87,435,152	F222I	probably benign	Het
Olfr352	C	A	2: 36,869,988	Q141K	probably benign	Het
Olfr47	A	G	6: 43,236,456	M283V	possibly damaging	Het
Olfr501-ps1	G	A	7: 108,508,243	M62I	probably damaging	Het
Olfr615	T	A	7: 103,561,317	I280N	possibly damaging	Het
Olfr619	A	T	7: 103,603,656	M1L	probably benign	Het
Otol1	C	A	3: 70,018,878	Q129K	probably benign	Het
Otx1	A	T	11: 21,998,532		probably null	Het
Pcdhac2	C	A	18: 37,146,251	N761K	probably damaging	Het
Pde1c	A	T	6: 56,150,624	M452K	probably damaging	Het
Phkg2	T	C	7: 127,573,941	Y24H	probably damaging	Het
Pigr	G	A	1: 130,841,817	D122N	probably benign	Het
Prg4	C	T	1: 150,460,681	C97Y	probably damaging	Het
Ptdss1	T	C	13: 66,945,288	V64A	probably benign	Het
Ralgapa2	T	C	2: 146,447,311	K324E	probably damaging	Het
Rfx5	G	A	3: 94,955,815	V73I	probably benign	Het
Riiad1	T	C	3: 94,472,863	T42A	probably benign	Het
Rims2	T	C	15: 39,454,445	V640A	possibly damaging	Het
Rnpep	G	T	1: 135,263,032	S592Y	possibly damaging	Het
Scap	T	C	9: 110,378,390	L431P	probably damaging	Het
Siglec1	T	A	2: 131,073,361	I1437F	possibly damaging	Het
Skint1	T	C	4: 112,028,333		probably null	Het
Slc44a1	A	G	4: 53,543,644	E396G	probably damaging	Het
Slc4a2	T	C	5: 24,434,869	F521S	probably damaging	Het
Smarcc1	T	A	9: 110,175,061	S394R	probably damaging	Het
Socs1	A	G	16: 10,784,685	S63P	probably benign	Het
Sun1	T	G	5: 139,225,333	S20A	possibly damaging	Het
Tac4	A	T	11: 95,265,242	K50*	probably null	Het
Tcaf2	A	G	6: 42,642,640	I151T	probably damaging	Het
Tcf4	T	C	18: 69,681,769	V587A	probably damaging	Het
Ttc37	T	A	13: 76,182,936	M1495K	probably damaging	Het
Ttn	T	A	2: 76,740,909	K24801*	probably null	Het
Tuba3b	G	T	6: 145,621,273	M413I	possibly damaging	Het
Ufl1	C	T	4: 25,267,832	A280T	possibly damaging	Het
Ugt2b5	T	A	5: 87,139,673	I212L	probably benign	Het
Umodl1	A	G	17: 30,986,485	T685A	probably benign	Het
Uqcrc1	T	A	9: 108,944,810	V183D	probably damaging	Het
Ush2a	A	G	1: 188,910,720	N4093S	probably benign	Het
Vmn1r167	C	T	7: 23,505,228	S121N	probably damaging	Het
Vmn1r47	A	G	6: 90,022,758	S291G	possibly damaging	Het
Vmn2r108	A	G	17: 20,481,187	V17A	probably benign	Het
Vmn2r58	T	A	7: 41,837,752	H573L	probably benign	Het
Xirp1	C	T	9: 120,018,792	V342I	probably damaging	Het
Zfp462	A	G	4: 55,051,204	M2226V	possibly damaging	Het
Zfp467	G	A	6: 48,439,029	H230Y	probably damaging	Het
Zfp595	T	A	13: 67,316,401	K599N	probably damaging	Het
Zfp819	C	A	7: 43,617,296	T401K	probably benign	Het

Other mutations in Noct

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01544:Noct	APN	3	51248048	missense	probably damaging	0.99
R0256:Noct	UTSW	3	51250474	missense	probably damaging	1.00
R1399:Noct	UTSW	3	51250476	splice site	probably null
R1539:Noct	UTSW	3	51247912	nonsense	probably null
R1618:Noct	UTSW	3	51247830	missense	probably damaging	1.00
R2001:Noct	UTSW	3	51248044	missense	probably damaging	1.00
R2176:Noct	UTSW	3	51249696	critical splice acceptor site	probably null
R2408:Noct	UTSW	3	51225289	critical splice donor site	probably null
R4413:Noct	UTSW	3	51250335	missense	probably damaging	1.00
R4552:Noct	UTSW	3	51250168	missense	probably benign	0.16
R4690:Noct	UTSW	3	51247879	nonsense	probably null
R5009:Noct	UTSW	3	51248061	missense	probably damaging	1.00
R6467:Noct	UTSW	3	51250087	missense	possibly damaging	0.90
R6631:Noct	UTSW	3	51250200	missense	probably damaging	1.00
R7454:Noct	UTSW	3	51249730	missense	probably damaging	1.00
R7467:Noct	UTSW	3	51225201	missense	probably benign	0.01
R7911:Noct	UTSW	3	51247648	intron	probably benign
R8201:Noct	UTSW	3	51248023	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- GTGGACCACTACTTTGACACCTTC -3'
(R):5'- TTGGCTCTGCGTTGAAGTCC -3'

Sequencing Primer
(F):5'- TCCAGCCACTCCTCAGTAG -3'
(R):5'- TTGAAGTCCCCGCAGACGATC -3'

Posted On

2016-05-10