Incidental Mutation 'R2039:Bmal1'
| ID |
225419 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Bmal1
|
| Ensembl Gene |
ENSMUSG00000055116 |
| Gene Name |
basic helix-loop-helix ARNT like 1 |
| Synonyms |
MOP3, Arntl, Arnt3, bHLHe5 |
| MMRRC Submission |
040046-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.791)
|
| Stock # |
R2039 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
112806672-112913333 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to G
at 112884319 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Arginine
at position 119
(L119R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000147823
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000047321]
[ENSMUST00000210074]
[ENSMUST00000210238]
[ENSMUST00000211770]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000047321
AA Change: L112R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000046235
Gene: ENSMUSG00000055116
AA Change: L112R
| Domain | Start | End | E-Value | Type |
|---|
|
HLH
|
78 |
131 |
2.92e-16 |
SMART |
|
PAS
|
146 |
213 |
4.41e-12 |
SMART |
|
PAS
|
328 |
394 |
1.66e-7 |
SMART |
|
PAC
|
401 |
444 |
2.92e-3 |
SMART |
|
low complexity region
|
511 |
521 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000210074
AA Change: L99R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000210238
AA Change: L112R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000211770
AA Change: L119R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Meta Mutation Damage Score |
0.9601 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.8%
- 20x: 93.9%
|
| Validation Efficiency |
96% (45/47) |
| MGI Phenotype |
FUNCTION: The protein encoded by this gene is a basic helix-loop-helix protein that forms a heterodimer with Clock. This heterodimer 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. Defects in this gene have been linked to infertility, problems with gluconeogenesis and lipogenesis, and altered sleep patterns. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2014]
PHENOTYPE: Homozygous mutation of this gene results in abnormal light/dark cycle activity and decreases overall activity levels. Mice homozygous for another knock-out allele exhibit loss of circadian rhythm in locomotor activity, dyslipidemia, ectopic fat formationand altered energy homeostasis. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A2m |
C |
A |
6: 121,636,908 (GRCm39) |
T757K |
probably benign |
Het |
| Abca14 |
T |
C |
7: 119,911,487 (GRCm39) |
V1357A |
probably damaging |
Het |
| Abca5 |
A |
G |
11: 110,190,755 (GRCm39) |
F785S |
probably damaging |
Het |
| Bltp1 |
T |
A |
3: 37,058,027 (GRCm39) |
F3206I |
possibly damaging |
Het |
| Cacna1h |
T |
C |
17: 25,610,819 (GRCm39) |
I554V |
probably benign |
Het |
| Cuzd1 |
A |
T |
7: 130,916,643 (GRCm39) |
|
probably benign |
Het |
| Cuzd1 |
T |
C |
7: 130,911,345 (GRCm39) |
S545G |
probably benign |
Het |
| Edrf1 |
T |
A |
7: 133,255,678 (GRCm39) |
Y574* |
probably null |
Het |
| Eef1d |
T |
C |
15: 75,767,618 (GRCm39) |
D252G |
probably damaging |
Het |
| Efna5 |
T |
G |
17: 63,188,061 (GRCm39) |
D22A |
probably benign |
Het |
| Esyt1 |
C |
T |
10: 128,347,820 (GRCm39) |
V957I |
probably benign |
Het |
| Etl4 |
T |
C |
2: 20,790,039 (GRCm39) |
S881P |
probably damaging |
Het |
| Exoc3 |
A |
G |
13: 74,341,096 (GRCm39) |
I236T |
probably benign |
Het |
| Far2 |
T |
C |
6: 148,067,075 (GRCm39) |
L320S |
probably benign |
Het |
| Fsd1l |
T |
A |
4: 53,679,972 (GRCm39) |
D223E |
probably benign |
Het |
| Fut1 |
C |
T |
7: 45,268,415 (GRCm39) |
A123V |
possibly damaging |
Het |
| Gap43 |
A |
T |
16: 42,112,715 (GRCm39) |
D15E |
possibly damaging |
Het |
| Gm12789 |
T |
C |
4: 101,846,183 (GRCm39) |
|
probably benign |
Het |
| Gm5114 |
T |
A |
7: 39,058,612 (GRCm39) |
T336S |
probably damaging |
Het |
| Hhla1 |
G |
A |
15: 65,808,226 (GRCm39) |
T273I |
possibly damaging |
Het |
| Hira |
A |
G |
16: 18,770,451 (GRCm39) |
H812R |
probably benign |
Het |
| Hsp90aa1 |
T |
C |
12: 110,660,216 (GRCm39) |
N360S |
probably damaging |
Het |
| Kmt2c |
A |
G |
5: 25,534,038 (GRCm39) |
L1463S |
possibly damaging |
Het |
| Lman2l |
A |
G |
1: 36,467,535 (GRCm39) |
F171S |
probably damaging |
Het |
| Lrfn5 |
T |
C |
12: 61,887,109 (GRCm39) |
L299S |
possibly damaging |
Het |
| Msr1 |
A |
T |
8: 40,042,418 (GRCm39) |
W386R |
probably damaging |
Het |
| Myo1e |
T |
C |
9: 70,227,415 (GRCm39) |
V162A |
possibly damaging |
Het |
| Npy6r |
A |
G |
18: 44,409,070 (GRCm39) |
T164A |
probably benign |
Het |
| Or52e4 |
T |
C |
7: 104,705,597 (GRCm39) |
L48P |
possibly damaging |
Het |
| Rbak |
C |
A |
5: 143,158,930 (GRCm39) |
V708L |
probably benign |
Het |
| Rev3l |
A |
G |
10: 39,700,440 (GRCm39) |
I1646V |
probably damaging |
Het |
| Rsrc1 |
A |
G |
3: 66,901,951 (GRCm39) |
T34A |
unknown |
Het |
| Septin9 |
G |
A |
11: 117,242,443 (GRCm39) |
V53I |
probably damaging |
Het |
| Snrnp200 |
G |
A |
2: 127,076,904 (GRCm39) |
A1646T |
probably benign |
Het |
| Spata31h1 |
A |
G |
10: 82,120,510 (GRCm39) |
S4167P |
probably damaging |
Het |
| Sqor |
G |
A |
2: 122,634,324 (GRCm39) |
|
probably null |
Het |
| St7 |
T |
C |
6: 17,886,111 (GRCm39) |
Y358H |
probably damaging |
Het |
| Tafa1 |
C |
A |
6: 96,631,725 (GRCm39) |
|
probably null |
Het |
| Tas2r126 |
T |
A |
6: 42,411,557 (GRCm39) |
M30K |
probably benign |
Het |
| Thsd7a |
G |
A |
6: 12,408,922 (GRCm39) |
T700I |
possibly damaging |
Het |
| Ttn |
T |
G |
2: 76,698,810 (GRCm39) |
|
probably benign |
Het |
| Ugt1a10 |
T |
G |
1: 87,983,703 (GRCm39) |
I167S |
probably benign |
Het |
| Uhmk1 |
T |
C |
1: 170,039,836 (GRCm39) |
D88G |
probably damaging |
Het |
| Washc2 |
T |
A |
6: 116,201,400 (GRCm39) |
F332Y |
probably damaging |
Het |
| Wdr48 |
T |
A |
9: 119,738,453 (GRCm39) |
W38R |
probably damaging |
Het |
| Zfc3h1 |
A |
G |
10: 115,242,388 (GRCm39) |
D622G |
probably damaging |
Het |
|
| Other mutations in Bmal1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01320:Bmal1
|
APN |
7 |
112,902,614 (GRCm39) |
missense |
probably damaging |
0.99 |
|
diet
|
UTSW |
7 |
112,884,238 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0308:Bmal1
|
UTSW |
7 |
112,890,743 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3548:Bmal1
|
UTSW |
7 |
112,912,752 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4355:Bmal1
|
UTSW |
7 |
112,902,613 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R4718:Bmal1
|
UTSW |
7 |
112,902,568 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4725:Bmal1
|
UTSW |
7 |
112,903,566 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R4776:Bmal1
|
UTSW |
7 |
112,884,244 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4920:Bmal1
|
UTSW |
7 |
112,884,321 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4960:Bmal1
|
UTSW |
7 |
112,898,642 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4985:Bmal1
|
UTSW |
7 |
112,884,280 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5640:Bmal1
|
UTSW |
7 |
112,907,888 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5739:Bmal1
|
UTSW |
7 |
112,884,238 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6004:Bmal1
|
UTSW |
7 |
112,879,934 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R7201:Bmal1
|
UTSW |
7 |
112,884,349 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7214:Bmal1
|
UTSW |
7 |
112,898,610 (GRCm39) |
missense |
probably benign |
0.44 |
|
R7218:Bmal1
|
UTSW |
7 |
112,886,390 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R7378:Bmal1
|
UTSW |
7 |
112,898,415 (GRCm39) |
missense |
probably benign |
0.44 |
|
R7491:Bmal1
|
UTSW |
7 |
112,898,631 (GRCm39) |
missense |
probably benign |
0.43 |
|
R7908:Bmal1
|
UTSW |
7 |
112,912,680 (GRCm39) |
missense |
probably benign |
|
|
R7947:Bmal1
|
UTSW |
7 |
112,886,353 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8260:Bmal1
|
UTSW |
7 |
112,884,258 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8331:Bmal1
|
UTSW |
7 |
112,912,703 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8848:Bmal1
|
UTSW |
7 |
112,905,327 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
R9347:Bmal1
|
UTSW |
7 |
112,898,487 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
R9411:Bmal1
|
UTSW |
7 |
112,907,837 (GRCm39) |
nonsense |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TCAACGTTGTTTCGATGCTCG -3'
(R):5'- CTGGGGAAGTATTAGTGCAAATGAC -3'
Sequencing Primer
(F):5'- GCTCGTGTACATCTCAGATGAATC -3'
(R):5'- TCTTCTGCCAAGATGTACAGG -3'
|
| Posted On |
2014-08-25 |
Incidental Mutation