Incidental Mutation 'R4598:Clock'
| ID |
345347 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Clock
|
| Ensembl Gene |
ENSMUSG00000029238 |
| Gene Name |
clock circadian regulator |
| Synonyms |
bHLHe8, KAT13D, 5330400M04Rik |
| MMRRC Submission |
041814-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.728)
|
| Stock # |
R4598 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
5 |
| Chromosomal Location |
76357715-76452639 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 76383657 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Valine
at position 499
(M499V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000143939
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000075159]
[ENSMUST00000202122]
[ENSMUST00000202651]
|
| AlphaFold |
O08785 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000075159
AA Change: M499V
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000074656
Gene: ENSMUSG00000029238
AA Change: M499V
| Domain | Start | End | E-Value | Type |
|---|
|
HLH
|
40 |
90 |
7.77e-12 |
SMART |
|
PAS
|
109 |
175 |
1.88e-6 |
SMART |
|
PAS
|
264 |
330 |
3.65e-4 |
SMART |
|
PAC
|
336 |
379 |
7.63e-7 |
SMART |
|
low complexity region
|
426 |
446 |
N/A |
INTRINSIC |
|
low complexity region
|
478 |
493 |
N/A |
INTRINSIC |
|
coiled coil region
|
523 |
559 |
N/A |
INTRINSIC |
|
low complexity region
|
619 |
634 |
N/A |
INTRINSIC |
|
low complexity region
|
640 |
657 |
N/A |
INTRINSIC |
|
low complexity region
|
738 |
796 |
N/A |
INTRINSIC |
|
low complexity region
|
818 |
837 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000201768
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000202122
AA Change: M499V
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000144022
Gene: ENSMUSG00000029238
AA Change: M499V
| Domain | Start | End | E-Value | Type |
|---|
|
TFS2N
|
34 |
106 |
4.1e-3 |
SMART |
|
HLH
|
40 |
90 |
3.4e-14 |
SMART |
|
PAS
|
109 |
175 |
9.6e-9 |
SMART |
|
PAS
|
264 |
330 |
1.8e-6 |
SMART |
|
PAC
|
336 |
379 |
3.9e-9 |
SMART |
|
low complexity region
|
426 |
446 |
N/A |
INTRINSIC |
|
low complexity region
|
478 |
493 |
N/A |
INTRINSIC |
|
coiled coil region
|
523 |
559 |
N/A |
INTRINSIC |
|
low complexity region
|
619 |
633 |
N/A |
INTRINSIC |
|
low complexity region
|
639 |
656 |
N/A |
INTRINSIC |
|
low complexity region
|
737 |
795 |
N/A |
INTRINSIC |
|
low complexity region
|
817 |
836 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000202651
AA Change: M499V
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000143939
Gene: ENSMUSG00000029238
AA Change: M499V
| Domain | Start | End | E-Value | Type |
|---|
|
HLH
|
40 |
90 |
7.77e-12 |
SMART |
|
PAS
|
109 |
175 |
1.88e-6 |
SMART |
|
PAS
|
264 |
330 |
3.65e-4 |
SMART |
|
PAC
|
336 |
379 |
7.63e-7 |
SMART |
|
low complexity region
|
426 |
446 |
N/A |
INTRINSIC |
|
low complexity region
|
478 |
493 |
N/A |
INTRINSIC |
|
coiled coil region
|
523 |
559 |
N/A |
INTRINSIC |
|
low complexity region
|
619 |
634 |
N/A |
INTRINSIC |
|
low complexity region
|
640 |
657 |
N/A |
INTRINSIC |
|
low complexity region
|
738 |
796 |
N/A |
INTRINSIC |
|
low complexity region
|
818 |
837 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000202857
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.1%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: The protein encoded by this gene plays a central role in the regulation of circadian rhythms. The protein encodes a transcription factor of the basic helix-loop-helix (bHLH) family and contains DNA binding histone acetyltransferase activity. The encoded protein forms a heterodimer with Arntl (Bmal1) that binds E-box enhancer elements upstream of Period (Per1, Per2, Per3) and Cryptochrome (Cry1, Cry2) genes and activates transcription of these genes. Per and Cry proteins heterodimerize and repress their own transcription by interacting in a feedback loop with Clock/Arntl complexes. Polymorphisms in this gene may be associated with behavioral changes, obesity, and metabolic syndrome. Two transcripts encoding the same protein have been found for this gene. [provided by RefSeq, Jan 2014]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit abnormal circadian phase. Mice homozygous for a spontaneous mutation exhibit abnormal circadian rhythm, reproduction, behavior, hair cycle, macronutrient absorption, and metabolism. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 67 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A830018L16Rik |
G |
A |
1: 11,818,188 (GRCm39) |
|
probably null |
Het |
| Abca14 |
T |
C |
7: 119,854,626 (GRCm39) |
V930A |
probably benign |
Het |
| Abcb7 |
A |
C |
X: 103,366,988 (GRCm39) |
D135E |
probably benign |
Het |
| Ace |
T |
A |
11: 105,872,585 (GRCm39) |
|
probably null |
Het |
| Acnat1 |
T |
C |
4: 49,450,781 (GRCm39) |
D110G |
probably benign |
Het |
| Ak9 |
C |
T |
10: 41,259,907 (GRCm39) |
P862S |
probably damaging |
Het |
| Atp1a3 |
A |
G |
7: 24,678,766 (GRCm39) |
S972P |
probably damaging |
Het |
| Bmf |
C |
A |
2: 118,379,609 (GRCm39) |
A56S |
probably benign |
Het |
| C6 |
T |
C |
15: 4,792,852 (GRCm39) |
L319P |
possibly damaging |
Het |
| Cab39 |
A |
G |
1: 85,776,050 (GRCm39) |
Y249C |
probably damaging |
Het |
| Cdc14b |
T |
C |
13: 64,395,088 (GRCm39) |
T69A |
probably benign |
Het |
| Cep162 |
A |
G |
9: 87,085,848 (GRCm39) |
Y1159H |
possibly damaging |
Het |
| Chrna7 |
A |
G |
7: 62,753,538 (GRCm39) |
M327T |
probably damaging |
Het |
| Clca3a2 |
A |
T |
3: 144,511,444 (GRCm39) |
N41K |
probably damaging |
Het |
| Col5a3 |
A |
G |
9: 20,685,855 (GRCm39) |
|
probably null |
Het |
| Coq6 |
T |
C |
12: 84,408,913 (GRCm39) |
V30A |
probably benign |
Het |
| Cyp3a57 |
A |
G |
5: 145,327,227 (GRCm39) |
I473V |
probably benign |
Het |
| D430041D05Rik |
A |
T |
2: 104,038,528 (GRCm39) |
V1547D |
probably damaging |
Het |
| Dhx9 |
TCC |
TC |
1: 153,342,797 (GRCm39) |
|
probably null |
Het |
| Dock2 |
T |
A |
11: 34,189,536 (GRCm39) |
Y1545F |
probably damaging |
Het |
| Eif4e3 |
T |
A |
6: 99,617,671 (GRCm39) |
I67L |
probably benign |
Het |
| Epor |
A |
G |
9: 21,873,155 (GRCm39) |
S86P |
probably benign |
Het |
| Esp31 |
T |
A |
17: 38,952,012 (GRCm39) |
|
probably null |
Het |
| Esrp2 |
A |
G |
8: 106,859,343 (GRCm39) |
M498T |
probably damaging |
Het |
| F5 |
T |
C |
1: 164,032,366 (GRCm39) |
I1771T |
probably benign |
Het |
| Fancd2 |
C |
A |
6: 113,562,438 (GRCm39) |
H1259Q |
probably benign |
Het |
| Gale |
C |
A |
4: 135,695,148 (GRCm39) |
S341* |
probably null |
Het |
| Ints12 |
T |
A |
3: 132,804,214 (GRCm39) |
I67N |
probably benign |
Het |
| Kat2b |
A |
G |
17: 53,977,826 (GRCm39) |
Y791C |
probably benign |
Het |
| Kazn |
A |
G |
4: 141,937,403 (GRCm39) |
V108A |
possibly damaging |
Het |
| Kcnma1 |
T |
C |
14: 23,853,228 (GRCm39) |
T109A |
probably damaging |
Het |
| Med13 |
T |
C |
11: 86,169,392 (GRCm39) |
T1955A |
probably damaging |
Het |
| Megf10 |
A |
T |
18: 57,420,884 (GRCm39) |
S841C |
probably damaging |
Het |
| Megf10 |
G |
A |
18: 57,322,675 (GRCm39) |
|
probably null |
Het |
| Mep1a |
A |
G |
17: 43,802,469 (GRCm39) |
|
probably null |
Het |
| Mrap2 |
A |
T |
9: 87,064,842 (GRCm39) |
E194D |
probably damaging |
Het |
| Msh2 |
A |
G |
17: 88,016,006 (GRCm39) |
K546R |
probably damaging |
Het |
| Ndc80 |
T |
C |
17: 71,828,063 (GRCm39) |
D88G |
probably damaging |
Het |
| Nrip1 |
A |
G |
16: 76,089,968 (GRCm39) |
F530L |
probably damaging |
Het |
| Or2y10 |
T |
C |
11: 49,455,545 (GRCm39) |
S266P |
probably damaging |
Het |
| Or52e7 |
A |
C |
7: 104,685,280 (GRCm39) |
I292L |
probably benign |
Het |
| Or6c216 |
T |
C |
10: 129,678,864 (GRCm39) |
T16A |
possibly damaging |
Het |
| Or9i16 |
A |
T |
19: 13,865,381 (GRCm39) |
H64Q |
probably damaging |
Het |
| Oxtr |
C |
T |
6: 112,466,713 (GRCm39) |
G16R |
probably benign |
Het |
| Pdgfrb |
A |
T |
18: 61,201,829 (GRCm39) |
K464N |
probably benign |
Het |
| Pja2 |
A |
T |
17: 64,620,025 (GRCm39) |
M1K |
probably null |
Het |
| Pkhd1 |
A |
T |
1: 20,573,280 (GRCm39) |
N1875K |
probably damaging |
Het |
| Pogz |
T |
C |
3: 94,787,491 (GRCm39) |
S1360P |
possibly damaging |
Het |
| Proc |
A |
T |
18: 32,256,512 (GRCm39) |
L385Q |
probably damaging |
Het |
| Ptprm |
A |
G |
17: 67,402,492 (GRCm39) |
I132T |
probably benign |
Het |
| Rpgr |
A |
G |
X: 10,062,255 (GRCm39) |
S343P |
probably benign |
Het |
| Rsu1 |
T |
C |
2: 13,174,815 (GRCm39) |
Y225C |
probably damaging |
Het |
| Scyl1 |
A |
G |
19: 5,820,481 (GRCm39) |
S118P |
probably damaging |
Het |
| Sec61a1 |
T |
C |
6: 88,483,131 (GRCm39) |
N414D |
probably benign |
Het |
| Secisbp2l |
C |
T |
2: 125,582,657 (GRCm39) |
G933D |
possibly damaging |
Het |
| Sema7a |
A |
G |
9: 57,860,834 (GRCm39) |
D65G |
probably benign |
Het |
| Slc25a45 |
A |
G |
19: 5,934,464 (GRCm39) |
Y144C |
probably damaging |
Het |
| Slc26a6 |
A |
G |
9: 108,733,579 (GRCm39) |
Y103C |
probably damaging |
Het |
| Stat3 |
C |
T |
11: 100,794,500 (GRCm39) |
D270N |
probably damaging |
Het |
| Taar8b |
T |
C |
10: 23,967,736 (GRCm39) |
S153G |
probably benign |
Het |
| Top1 |
A |
G |
2: 160,562,885 (GRCm39) |
E697G |
possibly damaging |
Het |
| Trappc11 |
G |
A |
8: 47,966,801 (GRCm39) |
T470I |
probably damaging |
Het |
| Ttc7b |
G |
A |
12: 100,466,376 (GRCm39) |
R79C |
probably damaging |
Het |
| Usp29 |
A |
G |
7: 6,965,479 (GRCm39) |
T441A |
probably benign |
Het |
| Vmn2r110 |
A |
T |
17: 20,804,029 (GRCm39) |
L182* |
probably null |
Het |
| Zgrf1 |
T |
C |
3: 127,394,679 (GRCm39) |
I1345T |
probably benign |
Het |
| Zscan25 |
G |
T |
5: 145,227,815 (GRCm39) |
R493L |
probably benign |
Het |
|
| Other mutations in Clock |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00598:Clock
|
APN |
5 |
76,377,311 (GRCm39) |
missense |
probably benign |
0.17 |
|
IGL00725:Clock
|
APN |
5 |
76,402,260 (GRCm39) |
nonsense |
probably null |
|
|
IGL01304:Clock
|
APN |
5 |
76,414,202 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL01369:Clock
|
APN |
5 |
76,384,933 (GRCm39) |
missense |
probably benign |
0.30 |
|
IGL01542:Clock
|
APN |
5 |
76,379,322 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
IGL02541:Clock
|
APN |
5 |
76,410,519 (GRCm39) |
splice site |
probably null |
|
|
IGL02602:Clock
|
APN |
5 |
76,402,274 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02602:Clock
|
APN |
5 |
76,402,273 (GRCm39) |
missense |
probably null |
1.00 |
|
IGL03186:Clock
|
APN |
5 |
76,390,929 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL03309:Clock
|
APN |
5 |
76,379,241 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6760_Clock_188
|
UTSW |
5 |
76,374,823 (GRCm39) |
missense |
unknown |
|
|
uhr
|
UTSW |
5 |
76,377,401 (GRCm39) |
nonsense |
probably null |
|
|
R0304:Clock
|
UTSW |
5 |
76,374,832 (GRCm39) |
missense |
unknown |
|
|
R0593:Clock
|
UTSW |
5 |
76,413,683 (GRCm39) |
missense |
probably benign |
0.25 |
|
R0654:Clock
|
UTSW |
5 |
76,374,976 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R0684:Clock
|
UTSW |
5 |
76,393,365 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R0707:Clock
|
UTSW |
5 |
76,374,976 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R0751:Clock
|
UTSW |
5 |
76,377,208 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
R0865:Clock
|
UTSW |
5 |
76,414,271 (GRCm39) |
splice site |
probably benign |
|
|
R0920:Clock
|
UTSW |
5 |
76,378,167 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R1396:Clock
|
UTSW |
5 |
76,414,649 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1450:Clock
|
UTSW |
5 |
76,410,578 (GRCm39) |
nonsense |
probably null |
|
|
R1487:Clock
|
UTSW |
5 |
76,414,201 (GRCm39) |
splice site |
probably null |
|
|
R1574:Clock
|
UTSW |
5 |
76,390,679 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1574:Clock
|
UTSW |
5 |
76,390,679 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1858:Clock
|
UTSW |
5 |
76,388,756 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R1872:Clock
|
UTSW |
5 |
76,396,309 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R1905:Clock
|
UTSW |
5 |
76,414,735 (GRCm39) |
splice site |
probably benign |
|
|
R1937:Clock
|
UTSW |
5 |
76,377,340 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2411:Clock
|
UTSW |
5 |
76,379,360 (GRCm39) |
missense |
probably benign |
0.08 |
|
R2887:Clock
|
UTSW |
5 |
76,393,120 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R3410:Clock
|
UTSW |
5 |
76,377,401 (GRCm39) |
nonsense |
probably null |
|
|
R4514:Clock
|
UTSW |
5 |
76,378,046 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4599:Clock
|
UTSW |
5 |
76,383,657 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4795:Clock
|
UTSW |
5 |
76,413,763 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4796:Clock
|
UTSW |
5 |
76,413,763 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4973:Clock
|
UTSW |
5 |
76,402,258 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
R5204:Clock
|
UTSW |
5 |
76,391,017 (GRCm39) |
splice site |
probably null |
|
|
R5271:Clock
|
UTSW |
5 |
76,389,801 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5547:Clock
|
UTSW |
5 |
76,378,185 (GRCm39) |
missense |
probably benign |
0.02 |
|
R5630:Clock
|
UTSW |
5 |
76,378,185 (GRCm39) |
missense |
probably benign |
0.02 |
|
R5631:Clock
|
UTSW |
5 |
76,378,185 (GRCm39) |
missense |
probably benign |
0.02 |
|
R5632:Clock
|
UTSW |
5 |
76,378,185 (GRCm39) |
missense |
probably benign |
0.02 |
|
R5787:Clock
|
UTSW |
5 |
76,384,898 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6274:Clock
|
UTSW |
5 |
76,385,000 (GRCm39) |
missense |
probably benign |
0.45 |
|
R6578:Clock
|
UTSW |
5 |
76,364,556 (GRCm39) |
missense |
unknown |
|
|
R6622:Clock
|
UTSW |
5 |
76,389,801 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6760:Clock
|
UTSW |
5 |
76,374,823 (GRCm39) |
missense |
unknown |
|
|
R6793:Clock
|
UTSW |
5 |
76,384,967 (GRCm39) |
frame shift |
probably null |
|
|
R7406:Clock
|
UTSW |
5 |
76,414,692 (GRCm39) |
start codon destroyed |
probably null |
0.26 |
|
R7414:Clock
|
UTSW |
5 |
76,410,611 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7560:Clock
|
UTSW |
5 |
76,390,738 (GRCm39) |
splice site |
probably null |
|
|
R7593:Clock
|
UTSW |
5 |
76,384,145 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R7640:Clock
|
UTSW |
5 |
76,396,225 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R7708:Clock
|
UTSW |
5 |
76,414,256 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7713:Clock
|
UTSW |
5 |
76,393,267 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7807:Clock
|
UTSW |
5 |
76,390,982 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8171:Clock
|
UTSW |
5 |
76,414,261 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R8190:Clock
|
UTSW |
5 |
76,375,051 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8225:Clock
|
UTSW |
5 |
76,389,759 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8309:Clock
|
UTSW |
5 |
76,402,269 (GRCm39) |
missense |
probably benign |
0.07 |
|
R8557:Clock
|
UTSW |
5 |
76,377,217 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8792:Clock
|
UTSW |
5 |
76,410,574 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8869:Clock
|
UTSW |
5 |
76,374,889 (GRCm39) |
small deletion |
probably benign |
|
|
R8870:Clock
|
UTSW |
5 |
76,383,632 (GRCm39) |
missense |
probably benign |
0.17 |
|
R8980:Clock
|
UTSW |
5 |
76,402,286 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8982:Clock
|
UTSW |
5 |
76,364,559 (GRCm39) |
missense |
unknown |
|
|
R9177:Clock
|
UTSW |
5 |
76,377,256 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9208:Clock
|
UTSW |
5 |
76,384,871 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9213:Clock
|
UTSW |
5 |
76,393,376 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R9307:Clock
|
UTSW |
5 |
76,364,671 (GRCm39) |
missense |
unknown |
|
|
R9446:Clock
|
UTSW |
5 |
76,396,288 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9516:Clock
|
UTSW |
5 |
76,377,227 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R9572:Clock
|
UTSW |
5 |
76,377,338 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9630:Clock
|
UTSW |
5 |
76,393,281 (GRCm39) |
missense |
probably benign |
0.03 |
|
| Predicted Primers |
PCR Primer
(F):5'- GTGATTCTTTCTAGTAAGGGTCCACC -3'
(R):5'- GGCAGCTCACTTTGTACTCAAC -3'
Sequencing Primer
(F):5'- GTAAGGGTCCACCAAAATCATTG -3'
(R):5'- TCAACAAAGTGAGGTTGATTGTCAG -3'
|
| Posted On |
2015-09-25 |
Incidental Mutation