Incidental Mutation 'R2408:Noct'
ID 248085
Institutional Source Beutler Lab
Gene Symbol Noct
Ensembl Gene ENSMUSG00000023087
Gene Name nocturnin
Synonyms Ccr4, Ccrn4l
MMRRC Submission 040374-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.131) question?
Stock # R2408 (G1)
Quality Score 91
Status Not validated
Chromosome 3
Chromosomal Location 51131868-51159065 bp(+) (GRCm39)
Type of Mutation critical splice donor site (2 bp from exon)
DNA Base Change (assembly) T to C at 51132710 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000130347 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023849] [ENSMUST00000167780]
AlphaFold O35710
Predicted Effect probably null
Transcript: ENSMUST00000023849
SMART Domains Protein: ENSMUSP00000023849
Gene: ENSMUSG00000023087

DomainStartEndE-ValueType
low complexity region 48 58 N/A INTRINSIC
Pfam:Exo_endo_phos 144 412 3.6e-31 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000167780
SMART Domains Protein: ENSMUSP00000130347
Gene: ENSMUSG00000023087

DomainStartEndE-ValueType
low complexity region 48 58 N/A INTRINSIC
Pfam:Exo_endo_phos 144 412 5.7e-29 PFAM
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.9%
  • 20x: 93.8%
Validation Efficiency 97% (33/34)
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: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrg1 T G 8: 95,730,121 (GRCm39) L103V probably null Het
BC051076 C T 5: 88,111,684 (GRCm39) noncoding transcript Het
Ccdc191 A T 16: 43,751,561 (GRCm39) Q239L probably benign Het
Dennd4b G T 3: 90,178,882 (GRCm39) G538* probably null Het
Dipk1a T C 5: 108,062,291 (GRCm39) D78G possibly damaging Het
Dusp7 C T 9: 106,246,361 (GRCm39) A122V probably benign Het
Exd2 T G 12: 80,531,015 (GRCm39) probably benign Het
Gm10782 C A 13: 56,510,944 (GRCm39) noncoding transcript Het
Gm5117 T C 8: 32,227,306 (GRCm39) noncoding transcript Het
Hhipl1 T A 12: 108,284,806 (GRCm39) D386E probably benign Het
Hnf1a C T 5: 115,098,070 (GRCm39) probably null Het
Ifi204 A G 1: 173,583,198 (GRCm39) F340S possibly damaging Het
Kalrn C T 16: 33,810,180 (GRCm39) D2525N possibly damaging Het
Med26 T C 8: 73,249,476 (GRCm39) D541G probably benign Het
Mgam T A 6: 40,663,456 (GRCm39) L1218Q probably damaging Het
Msh5 T C 17: 35,264,095 (GRCm39) D136G probably damaging Het
Nbl1 C T 4: 138,810,843 (GRCm39) C117Y probably damaging Het
Niban2 A G 2: 32,813,482 (GRCm39) Y565C probably damaging Het
Nsf C T 11: 103,821,578 (GRCm39) E26K possibly damaging Het
Prmt2 A T 10: 76,044,301 (GRCm39) M417K probably damaging Het
Rptor A G 11: 119,748,277 (GRCm39) E3G probably damaging Het
Sgms1 G A 19: 32,137,072 (GRCm39) R165* probably null Het
Slc13a5 A G 11: 72,152,902 (GRCm39) S60P probably damaging Het
Sycp1 T C 3: 102,832,575 (GRCm39) Y197C probably damaging Het
Tmem222 T C 4: 132,998,335 (GRCm39) H73R possibly damaging Het
Trmt1l G A 1: 151,315,267 (GRCm39) G151D possibly damaging Het
Ttc16 A G 2: 32,658,020 (GRCm39) F409L probably benign Het
Ubap2l T C 3: 89,916,439 (GRCm39) Q925R probably null Het
Ucn3 T G 13: 3,991,413 (GRCm39) I80L probably benign Het
Vwa3a T C 7: 120,372,517 (GRCm39) S302P probably benign Het
Zfp804b A T 5: 7,229,410 (GRCm39) probably benign Het
Zmynd19 A G 2: 24,848,937 (GRCm39) E144G possibly damaging Het
Other mutations in Noct
AlleleSourceChrCoordTypePredicted EffectPPH 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
R4413:Noct UTSW 3 51,157,756 (GRCm39) missense probably damaging 1.00
R4552:Noct UTSW 3 51,157,589 (GRCm39) missense probably benign 0.16
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'- GATCCAGACGGTCCATTCTC -3'
(R):5'- GCAAAACGTTAGCGACTGG -3'

Sequencing Primer
(F):5'- ATGTATCAGAGCCCGCGG -3'
(R):5'- AACGTTAGCGACTGGGGTCAC -3'
Posted On 2014-11-11