Mutagenetix > Incidental Mutation

Incidental Mutation 'R4552:Noct'

333998

Institutional Source

Beutler Lab

Gene Symbol

Noct

Ensembl Gene

ENSMUSG00000023087

Gene Name

nocturnin

Synonyms

Ccr4, Ccrn4l

MMRRC Submission

041783-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.131) question?

Stock #

R4552 (G1)

Quality Score

188

Status

Validated

Chromosome

Chromosomal Location

51131868-51159065 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 51157589 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 309 (I309N)

Ref Sequence

ENSEMBL: ENSMUSP00000130347 (fasta)

Gene Model

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

AlphaFold

O35710

Predicted Effect

probably benign
Transcript: ENSMUST00000023849
AA Change: I309N

PolyPhen 2 Score 0.155 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000023849
Gene: ENSMUSG00000023087
AA Change: I309N

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 benign
Transcript: ENSMUST00000144826
AA Change: I245N

PolyPhen 2 Score 0.155 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000141416
Gene: ENSMUSG00000023087
AA Change: I245N

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

Predicted Effect

probably benign
Transcript: ENSMUST00000167780
AA Change: I309N

PolyPhen 2 Score 0.155 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000130347
Gene: ENSMUSG00000023087
AA Change: I309N

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

Meta Mutation Damage Score

0.1143

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 96.9%
20x: 94.4%

Validation Efficiency

97% (62/64)

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: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts16	G	A	13: 70,927,637 (GRCm39)		probably benign	Het
Arhgap33	A	T	7: 30,218,533 (GRCm39)		probably benign	Het
Arid1a	A	C	4: 133,423,010 (GRCm39)		probably benign	Het
C4bp	A	G	1: 130,564,464 (GRCm39)	Y407H	possibly damaging	Het
Camta1	T	C	4: 151,876,959 (GRCm39)	R79G	probably damaging	Het
Caskin1	G	A	17: 24,725,602 (GRCm39)	S1296N	probably benign	Het
Cep128	T	C	12: 91,260,936 (GRCm39)	E309G	probably damaging	Het
Chit1	A	G	1: 134,071,789 (GRCm39)	T100A	probably benign	Het
Dalrd3	A	G	9: 108,449,429 (GRCm39)	D454G	possibly damaging	Het
Ddx19a	G	A	8: 111,705,198 (GRCm39)	Q308*	probably null	Het
Dmxl2	T	C	9: 54,359,047 (GRCm39)	N395S	probably damaging	Het
Dnah17	T	C	11: 117,943,769 (GRCm39)	D3125G	possibly damaging	Het
Dnah5	T	C	15: 28,397,300 (GRCm39)	V3331A	probably benign	Het
Dnah9	T	C	11: 65,732,192 (GRCm39)	E4238G	probably damaging	Het
Dner	T	C	1: 84,361,578 (GRCm39)	Y677C	probably damaging	Het
Epgn	A	T	5: 91,175,421 (GRCm39)	K14*	probably null	Het
Hid1	G	A	11: 115,249,505 (GRCm39)	T240M	possibly damaging	Het
Igbp1b	T	A	6: 138,635,112 (GRCm39)	M111L	probably benign	Het
Kif26b	T	A	1: 178,711,600 (GRCm39)	I740N	probably damaging	Het
Klk4	C	A	7: 43,533,443 (GRCm39)	H101N	probably benign	Het
Mrgpra2b	C	A	7: 47,113,754 (GRCm39)	S300I	probably benign	Het
Mtss2	A	G	8: 111,465,137 (GRCm39)	T464A	probably damaging	Het
Nbas	T	C	12: 13,385,938 (GRCm39)		probably null	Het
Nif3l1	C	T	1: 58,488,483 (GRCm39)		probably benign	Het
Obscn	T	C	11: 59,022,472 (GRCm39)	R758G	possibly damaging	Het
Odf2l	A	T	3: 144,856,844 (GRCm39)	T600S	probably benign	Het
Odf4	C	T	11: 68,812,866 (GRCm39)	S264N	probably benign	Het
Or13a17	A	T	7: 140,271,655 (GRCm39)	Y279F	probably damaging	Het
Or1m1	A	G	9: 18,666,430 (GRCm39)	V167A	possibly damaging	Het
Or2y1e	A	T	11: 49,218,777 (GRCm39)	M180L	probably benign	Het
Or6c217	T	C	10: 129,737,992 (GRCm39)	M196V	probably benign	Het
Papolb	T	C	5: 142,514,933 (GRCm39)	I237V	probably benign	Het
Parpbp	T	A	10: 87,929,564 (GRCm39)	Q428L	possibly damaging	Het
Pclo	T	C	5: 14,719,285 (GRCm39)	S1141P	unknown	Het
Plcb1	T	C	2: 135,177,413 (GRCm39)	S582P	probably benign	Het
Ppargc1a	C	T	5: 51,620,557 (GRCm39)		probably benign	Het
Ptchd4	A	T	17: 42,813,346 (GRCm39)	I416L	probably benign	Het
Rhpn1	G	A	15: 75,585,968 (GRCm39)	R627H	probably benign	Het
Ric8a	G	A	7: 140,441,250 (GRCm39)	G182S	probably damaging	Het
Rims1	T	C	1: 22,443,718 (GRCm39)	D895G	probably damaging	Het
Rrp1b	G	A	17: 32,274,984 (GRCm39)		probably benign	Het
Rtf1	T	A	2: 119,561,210 (GRCm39)	D636E	probably benign	Het
Scn3a	T	C	2: 65,354,523 (GRCm39)	D333G	probably benign	Het
Sema6a	A	G	18: 47,424,990 (GRCm39)	L207P	probably damaging	Het
Shcbp1	A	T	8: 4,799,779 (GRCm39)	Y160*	probably null	Het
Slc27a1	A	T	8: 72,032,710 (GRCm39)		probably null	Het
Ston2	C	T	12: 91,608,646 (GRCm39)	R818Q	probably damaging	Het
Tipin	T	A	9: 64,195,385 (GRCm39)		probably null	Het
Tjap1	A	T	17: 46,570,953 (GRCm39)		probably null	Het
Vmn1r117	A	T	7: 20,617,517 (GRCm39)	F177Y	probably damaging	Het
Vmn1r57	A	G	7: 5,223,667 (GRCm39)	D64G	possibly damaging	Het
Vmn2r73	T	A	7: 85,525,055 (GRCm39)	D31V	probably benign	Het
Vmn2r-ps41	A	T	7: 9,180,063 (GRCm39)		noncoding transcript	Het

Other mutations in Noct

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01544:Noct	APN	3	51,155,469 (GRCm39)	missense	probably damaging	0.99
R0256:Noct	UTSW	3	51,157,895 (GRCm39)	missense	probably damaging	1.00
R1399:Noct	UTSW	3	51,157,897 (GRCm39)	splice site	probably null
R1539:Noct	UTSW	3	51,155,333 (GRCm39)	nonsense	probably null
R1618:Noct	UTSW	3	51,155,251 (GRCm39)	missense	probably damaging	1.00
R2001:Noct	UTSW	3	51,155,465 (GRCm39)	missense	probably damaging	1.00
R2176:Noct	UTSW	3	51,157,117 (GRCm39)	critical splice acceptor site	probably null
R2408:Noct	UTSW	3	51,132,710 (GRCm39)	critical splice donor site	probably null
R4413:Noct	UTSW	3	51,157,756 (GRCm39)	missense	probably damaging	1.00
R4690:Noct	UTSW	3	51,155,300 (GRCm39)	nonsense	probably null
R4993:Noct	UTSW	3	51,157,442 (GRCm39)	missense	probably damaging	1.00
R5009:Noct	UTSW	3	51,155,482 (GRCm39)	missense	probably damaging	1.00
R6467:Noct	UTSW	3	51,157,508 (GRCm39)	missense	possibly damaging	0.90
R6631:Noct	UTSW	3	51,157,621 (GRCm39)	missense	probably damaging	1.00
R7454:Noct	UTSW	3	51,157,151 (GRCm39)	missense	probably damaging	1.00
R7467:Noct	UTSW	3	51,132,622 (GRCm39)	missense	probably benign	0.01
R7911:Noct	UTSW	3	51,155,069 (GRCm39)	intron	probably benign
R8201:Noct	UTSW	3	51,155,444 (GRCm39)	missense	probably benign
R9729:Noct	UTSW	3	51,157,267 (GRCm39)	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- CAGCACCAATATTAGGCTGACAG -3'
(R):5'- GGAGTACCAGATATAGTCCAGCG -3'

Sequencing Primer
(F):5'- GCTGACAGCCATGACCC -3'
(R):5'- CTCGCCTGAGGTCCGGATC -3'

Posted On

2015-08-18