Incidental Mutation 'IGL02141:Bmal2'
ID |
281573 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Bmal2
|
Ensembl Gene |
ENSMUSG00000040187 |
Gene Name |
basic helix-loop-helix ARNT like 2 |
Synonyms |
bHLHe6, MOP9, 4632430A05Rik, Arntl2 |
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.295)
|
Stock # |
IGL02141
|
Quality Score |
|
Status
|
|
Chromosome |
6 |
Chromosomal Location |
146697553-146735027 bp(+) (GRCm39) |
Type of Mutation |
splice site |
DNA Base Change (assembly) |
T to A
at 146729593 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000121170
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000080530]
[ENSMUST00000111636]
[ENSMUST00000111638]
[ENSMUST00000111639]
[ENSMUST00000129788]
|
AlphaFold |
Q2VPD4 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000080530
|
SMART Domains |
Protein: ENSMUSP00000079373 Gene: ENSMUSG00000040187
Domain | Start | End | E-Value | Type |
HLH
|
54 |
107 |
6.51e-14 |
SMART |
PAS
|
122 |
189 |
6.2e-7 |
SMART |
PAS
|
298 |
364 |
2.7e-7 |
SMART |
PAC
|
371 |
414 |
1.72e0 |
SMART |
low complexity region
|
427 |
438 |
N/A |
INTRINSIC |
low complexity region
|
472 |
483 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000111636
|
SMART Domains |
Protein: ENSMUSP00000107263 Gene: ENSMUSG00000040187
Domain | Start | End | E-Value | Type |
HLH
|
54 |
107 |
6.51e-14 |
SMART |
PAS
|
122 |
189 |
6.2e-7 |
SMART |
PAS
|
298 |
364 |
2.7e-7 |
SMART |
PAC
|
371 |
414 |
1.72e0 |
SMART |
low complexity region
|
427 |
438 |
N/A |
INTRINSIC |
low complexity region
|
472 |
483 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000111638
|
SMART Domains |
Protein: ENSMUSP00000107265 Gene: ENSMUSG00000040187
Domain | Start | End | E-Value | Type |
HLH
|
54 |
107 |
6.51e-14 |
SMART |
PAS
|
122 |
189 |
6.2e-7 |
SMART |
PAS
|
298 |
364 |
1.29e-4 |
SMART |
PAC
|
361 |
404 |
3.66e0 |
SMART |
low complexity region
|
417 |
428 |
N/A |
INTRINSIC |
low complexity region
|
462 |
473 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000111639
|
SMART Domains |
Protein: ENSMUSP00000107266 Gene: ENSMUSG00000040187
Domain | Start | End | E-Value | Type |
HLH
|
54 |
107 |
6.51e-14 |
SMART |
PAS
|
122 |
189 |
6.2e-7 |
SMART |
PAS
|
298 |
364 |
2.7e-7 |
SMART |
PAC
|
371 |
414 |
1.72e0 |
SMART |
low complexity region
|
427 |
438 |
N/A |
INTRINSIC |
low complexity region
|
472 |
483 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000129788
|
SMART Domains |
Protein: ENSMUSP00000121170 Gene: ENSMUSG00000040187
Domain | Start | End | E-Value | Type |
HLH
|
54 |
107 |
6.51e-14 |
SMART |
PAS
|
122 |
189 |
6.2e-7 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000136594
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000203818
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000204578
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: This gene encodes a basic helix-loop-helix transcription factor belonging to the PAS (Per, Arnt, Sim) superfamily. The PAS proteins play important roles in adaptation to low atmospheric and cellular oxygen levels, exposure to certain environmental pollutants, and diurnal oscillations in light and temperature. This protein forms a transcriptionally active heterodimer with the circadian Clock protein, the structurally related Mop4, and hypoxia-inducible factors, such as Hif1alpha. Consistent with its role as a biologically relevant partner of circadian and hypoxia factors, this protein is coexpressed in regions of the brain such as the thalamus, hypothalamus, and amygdala. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Feb 2014]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 57 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700001J03Rik |
C |
T |
5: 146,120,275 (GRCm39) |
A188T |
probably benign |
Het |
2310022B05Rik |
A |
T |
8: 125,364,645 (GRCm39) |
|
probably benign |
Het |
Atf6b |
C |
A |
17: 34,872,251 (GRCm39) |
H539Q |
probably benign |
Het |
Bpifb5 |
G |
T |
2: 154,071,477 (GRCm39) |
|
probably null |
Het |
Cep89 |
T |
A |
7: 35,120,349 (GRCm39) |
M377K |
probably damaging |
Het |
Clpx |
G |
T |
9: 65,219,400 (GRCm39) |
|
probably null |
Het |
Cops5 |
T |
C |
1: 10,105,342 (GRCm39) |
K47E |
probably damaging |
Het |
Cryba2 |
T |
C |
1: 74,931,943 (GRCm39) |
N35S |
probably benign |
Het |
Ddx27 |
A |
G |
2: 166,862,443 (GRCm39) |
K162E |
possibly damaging |
Het |
Dhx36 |
A |
G |
3: 62,401,310 (GRCm39) |
S319P |
probably benign |
Het |
Dram2 |
A |
G |
3: 106,479,012 (GRCm39) |
|
probably benign |
Het |
Eci2 |
T |
A |
13: 35,162,656 (GRCm39) |
T300S |
probably benign |
Het |
Egf |
C |
A |
3: 129,533,631 (GRCm39) |
G70* |
probably null |
Het |
Eif5b |
T |
C |
1: 38,071,403 (GRCm39) |
V444A |
probably benign |
Het |
Elf3 |
T |
C |
1: 135,185,445 (GRCm39) |
D23G |
possibly damaging |
Het |
Epb41l4b |
A |
T |
4: 57,103,422 (GRCm39) |
|
probably null |
Het |
Fam167a |
T |
A |
14: 63,689,708 (GRCm39) |
S2T |
probably benign |
Het |
Flrt3 |
A |
G |
2: 140,502,608 (GRCm39) |
V340A |
probably damaging |
Het |
Gimap3 |
T |
C |
6: 48,742,312 (GRCm39) |
E206G |
probably benign |
Het |
Gp6 |
T |
C |
7: 4,397,103 (GRCm39) |
|
probably benign |
Het |
Gpr158 |
A |
T |
2: 21,788,101 (GRCm39) |
M581L |
probably damaging |
Het |
Hapln3 |
A |
G |
7: 78,767,893 (GRCm39) |
V167A |
probably damaging |
Het |
Hnrnpll |
G |
A |
17: 80,358,142 (GRCm39) |
T203I |
probably benign |
Het |
Ighv3-6 |
A |
G |
12: 114,251,982 (GRCm39) |
I47T |
probably damaging |
Het |
Iqgap1 |
G |
A |
7: 80,387,869 (GRCm39) |
T926M |
probably damaging |
Het |
Lonp1 |
A |
T |
17: 56,922,086 (GRCm39) |
S765T |
probably benign |
Het |
Lpp |
C |
T |
16: 24,580,365 (GRCm39) |
S27F |
probably damaging |
Het |
Lrit2 |
T |
C |
14: 36,790,031 (GRCm39) |
|
probably benign |
Het |
Luc7l |
C |
A |
17: 26,472,054 (GRCm39) |
T17K |
probably damaging |
Het |
Mmut |
A |
G |
17: 41,249,708 (GRCm39) |
T228A |
possibly damaging |
Het |
Mroh1 |
G |
T |
15: 76,330,799 (GRCm39) |
S1161I |
possibly damaging |
Het |
Muc5b |
T |
G |
7: 141,407,104 (GRCm39) |
C1091G |
unknown |
Het |
Nppb |
A |
T |
4: 148,070,463 (GRCm39) |
I11F |
probably benign |
Het |
Nsf |
A |
T |
11: 103,719,351 (GRCm39) |
D650E |
probably benign |
Het |
Ogdh |
A |
G |
11: 6,305,015 (GRCm39) |
K907E |
probably damaging |
Het |
Or1b1 |
G |
A |
2: 36,995,437 (GRCm39) |
S75F |
probably benign |
Het |
Or1j15 |
A |
G |
2: 36,458,820 (GRCm39) |
D70G |
probably damaging |
Het |
Or7a35 |
A |
G |
10: 78,853,555 (GRCm39) |
Y133C |
probably damaging |
Het |
Pcnx1 |
A |
T |
12: 81,907,156 (GRCm39) |
Q4L |
possibly damaging |
Het |
Pgc |
T |
A |
17: 48,037,856 (GRCm39) |
L9H |
probably damaging |
Het |
Pikfyve |
T |
A |
1: 65,285,556 (GRCm39) |
S887T |
probably benign |
Het |
Plec |
T |
C |
15: 76,059,815 (GRCm39) |
D3239G |
probably damaging |
Het |
Pole4 |
T |
C |
6: 82,625,015 (GRCm39) |
T116A |
probably benign |
Het |
Potegl |
T |
C |
2: 23,120,212 (GRCm39) |
F203L |
probably damaging |
Het |
Prpf8 |
A |
G |
11: 75,381,498 (GRCm39) |
N300D |
possibly damaging |
Het |
Rara |
T |
A |
11: 98,858,907 (GRCm39) |
Y119N |
probably damaging |
Het |
Rbck1 |
G |
T |
2: 152,160,294 (GRCm39) |
R462S |
possibly damaging |
Het |
Setdb2 |
C |
T |
14: 59,639,764 (GRCm39) |
R709Q |
probably damaging |
Het |
Slfn2 |
C |
A |
11: 82,960,670 (GRCm39) |
N216K |
probably benign |
Het |
Suox |
A |
G |
10: 128,507,967 (GRCm39) |
|
probably benign |
Het |
Tars1 |
T |
A |
15: 11,391,280 (GRCm39) |
Y283F |
probably damaging |
Het |
Trpm4 |
A |
T |
7: 44,967,603 (GRCm39) |
|
probably null |
Het |
Ubtd2 |
A |
T |
11: 32,449,262 (GRCm39) |
K36N |
probably benign |
Het |
Unkl |
T |
C |
17: 25,448,408 (GRCm39) |
L327P |
probably damaging |
Het |
Vmn1r11 |
T |
A |
6: 57,114,364 (GRCm39) |
Y9* |
probably null |
Het |
Vps13b |
T |
C |
15: 35,572,227 (GRCm39) |
V948A |
probably benign |
Het |
Zbtb17 |
A |
G |
4: 141,192,264 (GRCm39) |
H403R |
probably damaging |
Het |
|
Other mutations in Bmal2 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00477:Bmal2
|
APN |
6 |
146,728,827 (GRCm39) |
splice site |
probably benign |
|
IGL00481:Bmal2
|
APN |
6 |
146,711,164 (GRCm39) |
missense |
probably benign |
0.11 |
IGL02402:Bmal2
|
APN |
6 |
146,711,266 (GRCm39) |
missense |
possibly damaging |
0.90 |
R0054:Bmal2
|
UTSW |
6 |
146,731,216 (GRCm39) |
missense |
probably benign |
0.01 |
R0054:Bmal2
|
UTSW |
6 |
146,731,216 (GRCm39) |
missense |
probably benign |
0.01 |
R0131:Bmal2
|
UTSW |
6 |
146,729,601 (GRCm39) |
missense |
probably benign |
0.00 |
R0403:Bmal2
|
UTSW |
6 |
146,724,153 (GRCm39) |
missense |
probably damaging |
1.00 |
R0716:Bmal2
|
UTSW |
6 |
146,731,218 (GRCm39) |
missense |
possibly damaging |
0.82 |
R0799:Bmal2
|
UTSW |
6 |
146,724,751 (GRCm39) |
splice site |
probably benign |
|
R0834:Bmal2
|
UTSW |
6 |
146,724,185 (GRCm39) |
missense |
probably damaging |
1.00 |
R1909:Bmal2
|
UTSW |
6 |
146,712,308 (GRCm39) |
missense |
probably benign |
0.01 |
R2270:Bmal2
|
UTSW |
6 |
146,723,612 (GRCm39) |
missense |
probably damaging |
1.00 |
R2272:Bmal2
|
UTSW |
6 |
146,723,612 (GRCm39) |
missense |
probably damaging |
1.00 |
R3715:Bmal2
|
UTSW |
6 |
146,724,187 (GRCm39) |
missense |
probably damaging |
0.97 |
R4370:Bmal2
|
UTSW |
6 |
146,711,149 (GRCm39) |
missense |
probably damaging |
1.00 |
R5399:Bmal2
|
UTSW |
6 |
146,724,159 (GRCm39) |
missense |
probably damaging |
0.99 |
R5894:Bmal2
|
UTSW |
6 |
146,724,732 (GRCm39) |
missense |
possibly damaging |
0.93 |
R5972:Bmal2
|
UTSW |
6 |
146,711,187 (GRCm39) |
missense |
probably damaging |
0.99 |
R6090:Bmal2
|
UTSW |
6 |
146,731,194 (GRCm39) |
missense |
possibly damaging |
0.90 |
R6111:Bmal2
|
UTSW |
6 |
146,722,097 (GRCm39) |
missense |
probably benign |
0.16 |
R6279:Bmal2
|
UTSW |
6 |
146,723,444 (GRCm39) |
missense |
probably damaging |
1.00 |
R6300:Bmal2
|
UTSW |
6 |
146,723,444 (GRCm39) |
missense |
probably damaging |
1.00 |
R6452:Bmal2
|
UTSW |
6 |
146,724,705 (GRCm39) |
missense |
probably benign |
0.00 |
R6722:Bmal2
|
UTSW |
6 |
146,720,398 (GRCm39) |
missense |
probably damaging |
0.99 |
R7296:Bmal2
|
UTSW |
6 |
146,723,632 (GRCm39) |
missense |
not run |
|
R7335:Bmal2
|
UTSW |
6 |
146,711,217 (GRCm39) |
missense |
probably benign |
0.01 |
R7481:Bmal2
|
UTSW |
6 |
146,720,369 (GRCm39) |
missense |
not run |
|
R7655:Bmal2
|
UTSW |
6 |
146,707,940 (GRCm39) |
missense |
probably benign |
0.31 |
R7656:Bmal2
|
UTSW |
6 |
146,707,940 (GRCm39) |
missense |
probably benign |
0.31 |
R7951:Bmal2
|
UTSW |
6 |
146,714,732 (GRCm39) |
missense |
probably damaging |
1.00 |
R8015:Bmal2
|
UTSW |
6 |
146,722,088 (GRCm39) |
missense |
probably damaging |
1.00 |
R8876:Bmal2
|
UTSW |
6 |
146,723,492 (GRCm39) |
missense |
probably benign |
0.00 |
R8959:Bmal2
|
UTSW |
6 |
146,722,142 (GRCm39) |
missense |
probably benign |
0.00 |
R9794:Bmal2
|
UTSW |
6 |
146,734,033 (GRCm39) |
missense |
probably benign |
0.04 |
|
Posted On |
2015-04-16 |