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)
|
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
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 null
Transcript: ENSMUST00000167780
|
SMART Domains |
Protein: ENSMUSP00000130347 Gene: ENSMUSG00000023087
Domain | Start | End | E-Value | Type |
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
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
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 |
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 |
|
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 |