Incidental Mutation 'R4413:Noct'
| ID |
328002 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Noct
|
| Ensembl Gene |
ENSMUSG00000023087 |
| Gene Name |
nocturnin |
| Synonyms |
Ccr4, Ccrn4l |
| MMRRC Submission |
041136-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.131)
|
| Stock # |
R4413 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
51131868-51159065 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 51157756 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Tryptophan
at position 365
(R365W)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000130347
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023849]
[ENSMUST00000062009]
[ENSMUST00000144826]
[ENSMUST00000167780]
[ENSMUST00000183463]
[ENSMUST00000193018]
[ENSMUST00000194641]
|
| AlphaFold |
O35710 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000023849
AA Change: R365W
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000023849
Gene: ENSMUSG00000023087
AA Change: R365W
| 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: ENSMUST00000062009
|
| SMART Domains |
Protein: ENSMUSP00000061076
Gene: ENSMUSG00000037174
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Elf-1_N
|
2 |
108 |
2.2e-37 |
PFAM |
|
low complexity region
|
130 |
142 |
N/A |
INTRINSIC |
|
low complexity region
|
160 |
169 |
N/A |
INTRINSIC |
|
ETS
|
195 |
282 |
1.28e-51 |
SMART |
|
low complexity region
|
357 |
379 |
N/A |
INTRINSIC |
|
low complexity region
|
411 |
421 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000144826
AA Change: R301W
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000141416
Gene: ENSMUSG00000023087
AA Change: R301W
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Exo_endo_phos
|
80 |
348 |
6.7e-27 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000167780
AA Change: R365W
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000130347
Gene: ENSMUSG00000023087
AA Change: R365W
| 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: ENSMUST00000183463
|
| SMART Domains |
Protein: ENSMUSP00000139360
Gene: ENSMUSG00000037174
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Elf-1_N
|
2 |
85 |
2.2e-25 |
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 |
0.5458 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.0%
|
| Validation Efficiency |
93% (42/45) |
| 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: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adprhl1 |
T |
C |
8: 13,296,114 (GRCm39) |
K144E |
probably benign |
Het |
| Bcdin3d |
A |
G |
15: 99,368,614 (GRCm39) |
L195P |
probably damaging |
Het |
| Bltp1 |
A |
G |
3: 37,012,830 (GRCm39) |
|
probably null |
Het |
| Col11a1 |
T |
A |
3: 113,901,965 (GRCm39) |
S553R |
unknown |
Het |
| Cp |
A |
T |
3: 20,020,517 (GRCm39) |
D170V |
probably damaging |
Het |
| Dnah17 |
C |
T |
11: 117,915,994 (GRCm39) |
A4303T |
probably benign |
Het |
| Dpp4 |
G |
A |
2: 62,217,484 (GRCm39) |
R38C |
possibly damaging |
Het |
| Dusp6 |
C |
T |
10: 99,099,786 (GRCm39) |
T78M |
probably damaging |
Het |
| Exoc1 |
A |
G |
5: 76,689,866 (GRCm39) |
|
probably benign |
Het |
| Fbxl13 |
A |
T |
5: 21,787,051 (GRCm39) |
C295* |
probably null |
Het |
| Gpsm1 |
G |
A |
2: 26,209,843 (GRCm39) |
|
probably benign |
Het |
| Gstm4 |
T |
A |
3: 107,950,644 (GRCm39) |
D85V |
possibly damaging |
Het |
| Hectd4 |
A |
G |
5: 121,488,544 (GRCm39) |
N3612D |
possibly damaging |
Het |
| Izumo3 |
T |
C |
4: 92,035,136 (GRCm39) |
D27G |
probably damaging |
Het |
| Kcna4 |
T |
A |
2: 107,125,718 (GRCm39) |
C151S |
probably benign |
Het |
| Lrrc10 |
A |
G |
10: 116,881,719 (GRCm39) |
N131S |
probably damaging |
Het |
| Madd |
A |
G |
2: 90,997,932 (GRCm39) |
S699P |
probably damaging |
Het |
| Mcpt4 |
A |
T |
14: 56,297,993 (GRCm39) |
V186D |
probably damaging |
Het |
| Mrgprx3-ps |
T |
C |
7: 46,959,746 (GRCm39) |
|
noncoding transcript |
Het |
| Mrm1 |
G |
T |
11: 84,710,054 (GRCm39) |
R49S |
possibly damaging |
Het |
| Nav2 |
T |
A |
7: 49,047,857 (GRCm39) |
N91K |
probably benign |
Het |
| Ntn1 |
C |
T |
11: 68,276,736 (GRCm39) |
G71S |
probably damaging |
Het |
| Or10x1 |
T |
C |
1: 174,197,040 (GRCm39) |
S186P |
probably damaging |
Het |
| Plekhg3 |
A |
C |
12: 76,624,538 (GRCm39) |
T1127P |
probably damaging |
Het |
| Rhbdl2 |
A |
T |
4: 123,703,880 (GRCm39) |
M52L |
probably benign |
Het |
| Saxo5 |
T |
A |
8: 3,533,529 (GRCm39) |
H278Q |
probably damaging |
Het |
| Slc10a1 |
T |
C |
12: 81,004,906 (GRCm39) |
N212S |
probably benign |
Het |
| Sohlh2 |
C |
A |
3: 55,104,423 (GRCm39) |
T264K |
probably damaging |
Het |
| Srrm2 |
A |
G |
17: 24,029,442 (GRCm39) |
|
probably benign |
Het |
| Syn3 |
C |
A |
10: 85,891,456 (GRCm39) |
|
probably benign |
Het |
| Taf5 |
T |
A |
19: 47,059,453 (GRCm39) |
V199D |
probably damaging |
Het |
| Tas2r136 |
C |
A |
6: 132,754,972 (GRCm39) |
V52L |
probably damaging |
Het |
| Tnk2 |
C |
T |
16: 32,488,319 (GRCm39) |
R191C |
probably damaging |
Het |
| Ttn |
A |
G |
2: 76,556,120 (GRCm39) |
I21968T |
probably damaging |
Het |
| Ubxn6 |
A |
T |
17: 56,376,303 (GRCm39) |
V311E |
probably damaging |
Het |
| Usp7 |
C |
A |
16: 8,526,778 (GRCm39) |
D187Y |
probably damaging |
Het |
| Vmn1r115 |
C |
T |
7: 20,578,207 (GRCm39) |
R235K |
probably benign |
Het |
| Vmn2r50 |
A |
C |
7: 9,784,235 (GRCm39) |
F80V |
probably damaging |
Het |
| Vmn2r58 |
T |
A |
7: 41,511,360 (GRCm39) |
K481M |
possibly damaging |
Het |
| Vmn2r86 |
A |
G |
10: 130,288,469 (GRCm39) |
I344T |
possibly damaging |
Het |
| Vmn2r99 |
T |
A |
17: 19,599,522 (GRCm39) |
V402E |
probably damaging |
Het |
| Zfp462 |
A |
G |
4: 55,012,672 (GRCm39) |
D1546G |
probably 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 |
|
|
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'- TCACCCAGGGAGCAAAGATC -3'
(R):5'- CAGTTTCCCAAAACATCCCTGG -3'
Sequencing Primer
(F):5'- GGAGCAAAGATCCCCCTG -3'
(R):5'- TTAAAAGAGCTCATGGGGCTCCTC -3'
|
| Posted On |
2015-07-07 |
Incidental Mutation