Incidental Mutation 'IGL01544:Noct'
| ID |
90250 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Noct
|
| Ensembl Gene |
ENSMUSG00000023087 |
| Gene Name |
nocturnin |
| Synonyms |
Ccr4, Ccrn4l |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.131)
|
| Stock # |
IGL01544
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
3 |
| Chromosomal Location |
51131868-51159065 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 51155469 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 79
(V79A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000142216
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023849]
[ENSMUST00000144826]
[ENSMUST00000167780]
[ENSMUST00000193018]
[ENSMUST00000194641]
|
| AlphaFold |
O35710 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000023849
AA Change: V143A
PolyPhen 2
Score 0.032 (Sensitivity: 0.95; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000023849
Gene: ENSMUSG00000023087
AA Change: V143A
| 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: V79A
PolyPhen 2
Score 0.032 (Sensitivity: 0.95; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000141416
Gene: ENSMUSG00000023087
AA Change: V79A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Exo_endo_phos
|
80 |
348 |
6.7e-27 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000167780
AA Change: V143A
PolyPhen 2
Score 0.032 (Sensitivity: 0.95; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000130347
Gene: ENSMUSG00000023087
AA Change: V143A
| 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 damaging
Transcript: ENSMUST00000193018
AA Change: V79A
PolyPhen 2
Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000142216
Gene: ENSMUSG00000023087
AA Change: V79A
| 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 |
|
| Coding Region Coverage |
|
| 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: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Arap3 |
G |
A |
18: 38,123,889 (GRCm39) |
R377C |
probably damaging |
Het |
| Bbx |
C |
A |
16: 50,095,140 (GRCm39) |
E59* |
probably null |
Het |
| Cep120 |
C |
T |
18: 53,819,033 (GRCm39) |
R886H |
probably benign |
Het |
| Cep350 |
C |
A |
1: 155,828,933 (GRCm39) |
V324L |
probably damaging |
Het |
| Cry1 |
T |
A |
10: 84,982,360 (GRCm39) |
K329* |
probably null |
Het |
| Dhtkd1 |
T |
C |
2: 5,918,342 (GRCm39) |
N627S |
probably benign |
Het |
| Dpp8 |
A |
T |
9: 64,962,270 (GRCm39) |
T437S |
probably benign |
Het |
| Elovl1 |
G |
A |
4: 118,288,107 (GRCm39) |
|
probably null |
Het |
| Heca |
A |
G |
10: 17,791,715 (GRCm39) |
Y114H |
probably damaging |
Het |
| Hrh4 |
A |
G |
18: 13,148,950 (GRCm39) |
N104S |
probably benign |
Het |
| Ift80 |
T |
A |
3: 68,898,115 (GRCm39) |
K73N |
probably benign |
Het |
| Ina |
T |
C |
19: 47,003,948 (GRCm39) |
V252A |
possibly damaging |
Het |
| Klhl36 |
A |
G |
8: 120,596,755 (GRCm39) |
E152G |
possibly damaging |
Het |
| Lamp5 |
T |
A |
2: 135,910,990 (GRCm39) |
L241Q |
probably damaging |
Het |
| Lrp4 |
G |
A |
2: 91,307,896 (GRCm39) |
R447H |
probably damaging |
Het |
| Mmp24 |
G |
A |
2: 155,641,807 (GRCm39) |
G212R |
probably damaging |
Het |
| Mpp3 |
A |
G |
11: 101,909,485 (GRCm39) |
V191A |
possibly damaging |
Het |
| Mtmr4 |
A |
G |
11: 87,488,437 (GRCm39) |
|
probably benign |
Het |
| Mynn |
C |
A |
3: 30,661,854 (GRCm39) |
S312* |
probably null |
Het |
| Neb |
T |
A |
2: 52,182,917 (GRCm39) |
I1010F |
possibly damaging |
Het |
| Nes |
T |
C |
3: 87,885,271 (GRCm39) |
S1177P |
possibly damaging |
Het |
| Rad1 |
A |
G |
15: 10,490,465 (GRCm39) |
D114G |
probably damaging |
Het |
| Slc26a9 |
T |
C |
1: 131,687,233 (GRCm39) |
|
probably null |
Het |
| Sqor |
G |
A |
2: 122,634,266 (GRCm39) |
|
probably benign |
Het |
| Sspo |
G |
T |
6: 48,467,953 (GRCm39) |
W4309L |
probably damaging |
Het |
| Thoc7 |
A |
C |
14: 13,953,435 (GRCm38) |
Y72D |
probably damaging |
Het |
| Thra |
A |
G |
11: 98,647,754 (GRCm39) |
I43V |
possibly damaging |
Het |
| Timm44 |
G |
T |
8: 4,325,888 (GRCm39) |
|
probably benign |
Het |
| Trmo |
C |
T |
4: 46,386,169 (GRCm39) |
G119R |
probably damaging |
Het |
| Trpc4 |
T |
C |
3: 54,209,567 (GRCm39) |
M644T |
probably damaging |
Het |
| Wdr72 |
C |
T |
9: 74,056,007 (GRCm39) |
L300F |
probably damaging |
Het |
| Wrn |
T |
C |
8: 33,814,554 (GRCm39) |
T54A |
probably benign |
Het |
|
| Other mutations in Noct |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
|
R8201:Noct
|
UTSW |
3 |
51,155,444 (GRCm39) |
missense |
probably benign |
|
|
R9729:Noct
|
UTSW |
3 |
51,157,267 (GRCm39) |
nonsense |
probably null |
|
|
| Posted On |
2013-12-03 |
Incidental Mutation