Incidental Mutation 'R8201:Noct'
| ID |
635659 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Noct
|
| Ensembl Gene |
ENSMUSG00000023087 |
| Gene Name |
nocturnin |
| Synonyms |
Ccr4, Ccrn4l |
| MMRRC Submission |
067624-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.131)
|
| Stock # |
R8201 (G1)
|
| Quality Score |
198.009 |
|
Status
|
Not validated
|
| Chromosome |
3 |
| Chromosomal Location |
51131868-51159065 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 51155444 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 135
(S135P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000023849
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023849]
[ENSMUST00000144826]
[ENSMUST00000167780]
[ENSMUST00000193018]
[ENSMUST00000194641]
|
| AlphaFold |
O35710 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000023849
AA Change: S135P
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000023849
Gene: ENSMUSG00000023087
AA Change: S135P
| 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: S71P
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000141416
Gene: ENSMUSG00000023087
AA Change: S71P
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Exo_endo_phos
|
80 |
348 |
6.7e-27 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000167780
AA Change: S135P
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000130347
Gene: ENSMUSG00000023087
AA Change: S135P
| 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
AA Change: S71P
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000142216
Gene: ENSMUSG00000023087
AA Change: S71P
| 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 |
0.0846 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.4%
- 20x: 97.9%
|
| 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: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700006A11Rik |
T |
C |
3: 124,195,046 (GRCm39) |
E543G |
probably benign |
Het |
| 2210408I21Rik |
T |
A |
13: 77,341,278 (GRCm39) |
N302K |
possibly damaging |
Het |
| Apbb2 |
T |
C |
5: 66,466,458 (GRCm39) |
N609S |
probably benign |
Het |
| Atp10a |
G |
T |
7: 58,469,424 (GRCm39) |
G1092* |
probably null |
Het |
| Ccdc150 |
A |
G |
1: 54,368,646 (GRCm39) |
N618S |
probably benign |
Het |
| Cct4 |
T |
A |
11: 22,949,115 (GRCm39) |
V287E |
probably damaging |
Het |
| Cyp2j7 |
A |
T |
4: 96,083,564 (GRCm39) |
I462N |
probably damaging |
Het |
| Dnajc6 |
C |
T |
4: 101,475,960 (GRCm39) |
A611V |
probably benign |
Het |
| Dusp10 |
C |
A |
1: 183,769,202 (GRCm39) |
A56E |
possibly damaging |
Het |
| Entrep3 |
T |
C |
3: 89,093,115 (GRCm39) |
V291A |
probably damaging |
Het |
| Fat3 |
A |
C |
9: 15,908,773 (GRCm39) |
C2410G |
possibly damaging |
Het |
| Fcgrt |
T |
A |
7: 44,744,634 (GRCm39) |
Q274L |
possibly damaging |
Het |
| Fdxacb1 |
G |
T |
9: 50,681,455 (GRCm39) |
|
probably benign |
Het |
| Fubp1 |
T |
A |
3: 151,927,823 (GRCm39) |
I424N |
probably damaging |
Het |
| Gm5114 |
T |
A |
7: 39,060,373 (GRCm39) |
T159S |
probably damaging |
Het |
| Gm7168 |
T |
C |
17: 14,170,042 (GRCm39) |
C470R |
probably benign |
Het |
| Hebp1 |
A |
G |
6: 135,114,906 (GRCm39) |
V185A |
possibly damaging |
Het |
| Il18rap |
G |
T |
1: 40,578,429 (GRCm39) |
R280I |
possibly damaging |
Het |
| Mamdc4 |
T |
C |
2: 25,456,093 (GRCm39) |
N771S |
probably damaging |
Het |
| Ndufaf4 |
A |
G |
4: 24,898,197 (GRCm39) |
N11D |
possibly damaging |
Het |
| Nkiras1 |
T |
C |
14: 18,276,908 (GRCm38) |
|
probably benign |
Het |
| Or1e23 |
T |
A |
11: 73,407,899 (GRCm39) |
N42I |
probably damaging |
Het |
| Or2t48 |
A |
T |
11: 58,419,865 (GRCm39) |
*316R |
noncoding transcript |
Het |
| Or2w3b |
A |
C |
11: 58,623,940 (GRCm39) |
F17C |
probably damaging |
Het |
| Or7e177 |
G |
T |
9: 20,212,317 (GRCm39) |
G271C |
probably damaging |
Het |
| Or7e178 |
T |
C |
9: 20,225,908 (GRCm39) |
M103V |
probably benign |
Het |
| Pcdhac1 |
A |
T |
18: 37,223,892 (GRCm39) |
H235L |
probably benign |
Het |
| Pcdhb22 |
G |
T |
18: 37,651,518 (GRCm39) |
|
probably benign |
Het |
| Pdlim1 |
A |
T |
19: 40,218,958 (GRCm39) |
D224E |
probably benign |
Het |
| Plpp3 |
G |
T |
4: 105,076,555 (GRCm39) |
G223W |
probably damaging |
Het |
| Rcan3 |
A |
G |
4: 135,147,684 (GRCm39) |
F81S |
probably damaging |
Het |
| Sel1l2 |
A |
C |
2: 140,108,312 (GRCm39) |
Y191D |
probably damaging |
Het |
| Supt16 |
A |
G |
14: 52,408,447 (GRCm39) |
F833L |
probably damaging |
Het |
| Tchh |
T |
C |
3: 93,350,781 (GRCm39) |
F74L |
probably damaging |
Het |
| Tgfbr3 |
T |
C |
5: 107,278,431 (GRCm39) |
D725G |
probably benign |
Het |
| Tmem14c |
C |
T |
13: 41,171,186 (GRCm39) |
P10S |
probably benign |
Het |
| Ubb |
G |
A |
11: 62,443,053 (GRCm39) |
A28T |
probably benign |
Het |
| Vars2 |
A |
T |
17: 35,969,202 (GRCm39) |
V833E |
probably benign |
Het |
| Zfyve9 |
T |
C |
4: 108,507,474 (GRCm39) |
D528G |
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 |
|
|
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 |
|
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 |
|
|
R9729:Noct
|
UTSW |
3 |
51,157,267 (GRCm39) |
nonsense |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TCTACAGTGCTCTCGCCAAG -3'
(R):5'- TGTCACAGACTCAGGCTGTAGG -3'
Sequencing Primer
(F):5'- GACCGTCAACAGCAGTGCAG -3'
(R):5'- CAACAGAATGCCTAAGGTTGTCCTG -3'
|
| Posted On |
2020-07-13 |
Incidental Mutation