Mutagenetix > Incidental Mutation

Incidental Mutation 'R4725:Bmal1'

358409

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

041960-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.788) question?

Stock #

R4725 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

112806672-112913333 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 112903566 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Proline to Glutamine at position 454 (P454Q)

Ref Sequence

ENSEMBL: ENSMUSP00000147989 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000047321] [ENSMUST00000210074] [ENSMUST00000210238] [ENSMUST00000211770]

AlphaFold

no structure available at present

Predicted Effect

possibly damaging
Transcript: ENSMUST00000047321
AA Change: P454Q

PolyPhen 2 Score 0.819 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000046235
Gene: ENSMUSG00000055116
AA Change: P454Q

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

possibly damaging
Transcript: ENSMUST00000210074
AA Change: P441Q

PolyPhen 2 Score 0.819 (Sensitivity: 0.84; Specificity: 0.93)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000210238
AA Change: P454Q

PolyPhen 2 Score 0.819 (Sensitivity: 0.84; Specificity: 0.93)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000211547

Predicted Effect

probably benign
Transcript: ENSMUST00000211770
AA Change: P461Q

PolyPhen 2 Score 0.233 (Sensitivity: 0.91; Specificity: 0.88)

Meta Mutation Damage Score

0.1265

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 95.1%

Validation Efficiency

96% (64/67)

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: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
5830454E08Rik	T	C	9: 120,406,769 (GRCm39)		probably benign	Het
Adamts20	T	C	15: 94,249,643 (GRCm39)	E458G	probably damaging	Het
Adgrl3	T	C	5: 81,914,052 (GRCm39)	I1220T	possibly damaging	Het
Aldh1a1	T	A	19: 20,617,445 (GRCm39)	M459K	probably benign	Het
Camta1	A	G	4: 151,232,953 (GRCm39)	V240A	probably benign	Het
Ccdc88b	C	T	19: 6,834,481 (GRCm39)	G149R	probably damaging	Het
Ceacam5	T	C	7: 17,494,602 (GRCm39)	V870A	probably benign	Het
Cep192	A	C	18: 67,949,837 (GRCm39)	Q307P	probably benign	Het
Cep63	T	C	9: 102,467,755 (GRCm39)		probably benign	Het
Cldn12	A	G	5: 5,558,385 (GRCm39)	F14S	probably damaging	Het
Ctdsp1	G	A	1: 74,433,823 (GRCm39)	V135I	possibly damaging	Het
Dcaf10	G	A	4: 45,372,769 (GRCm39)	R394Q	possibly damaging	Het
Dchs1	T	C	7: 105,404,460 (GRCm39)	D2694G	probably damaging	Het
Dchs1	C	G	7: 105,414,759 (GRCm39)	G761A	probably damaging	Het
Dennd5b	A	G	6: 148,946,277 (GRCm39)	Y445H	probably damaging	Het
Dock1	T	A	7: 134,346,743 (GRCm39)	L225*	probably null	Het
Drd3	G	T	16: 43,643,164 (GRCm39)	E467*	probably null	Het
Dysf	A	T	6: 84,074,738 (GRCm39)	N527I	probably damaging	Het
Erbb2	A	G	11: 98,315,970 (GRCm39)	T358A	possibly damaging	Het
Fhad1	A	T	4: 141,655,689 (GRCm39)		probably null	Het
Ganc	T	C	2: 120,265,754 (GRCm39)	I434T	probably damaging	Het
Gm5830	T	A	1: 78,945,549 (GRCm39)		noncoding transcript	Het
Gm6096	G	T	7: 33,950,484 (GRCm39)	E8*	probably null	Het
Gne	A	G	4: 44,066,806 (GRCm39)	F63S	probably benign	Het
Gpat2	T	C	2: 127,273,902 (GRCm39)	V315A	possibly damaging	Het
Gpr33	A	G	12: 52,070,892 (GRCm39)	L49P	probably damaging	Het
Heatr1	C	T	13: 12,439,543 (GRCm39)	Q1374*	probably null	Het
Hivep1	A	G	13: 42,316,887 (GRCm39)	I2032V	probably benign	Het
Igkv2-112	A	C	6: 68,197,450 (GRCm39)	I40L	probably benign	Het
Kcnab3	A	G	11: 69,221,294 (GRCm39)	N204D	probably benign	Het
Kcnj10	T	A	1: 172,196,726 (GRCm39)	F80Y	probably damaging	Het
Lcmt2	C	G	2: 120,969,911 (GRCm39)	V171L	probably benign	Het
Loxhd1	T	A	18: 77,483,153 (GRCm39)	Y1245N	probably damaging	Het
Lrrc7	GAAGTTGTTTGGAGATTCTTATCTTA	GA	3: 158,024,045 (GRCm39)		probably benign	Het
Mast1	A	G	8: 85,655,635 (GRCm39)	S170P	possibly damaging	Het
Mroh4	A	G	15: 74,487,956 (GRCm39)	L322P	probably damaging	Het
Npdc1	G	A	2: 25,298,957 (GRCm39)	D284N	probably damaging	Het
Nudcd3	A	T	11: 6,143,475 (GRCm39)	V1D	probably damaging	Het
Pah	T	A	10: 87,390,238 (GRCm39)	L25Q	probably damaging	Het
Pik3cg	A	T	12: 32,243,596 (GRCm39)		probably null	Het
Pira13	A	C	7: 3,824,547 (GRCm39)	S611A	probably benign	Het
Plekha6	C	A	1: 133,211,058 (GRCm39)	S625Y	probably damaging	Het
Rtn4	T	A	11: 29,658,362 (GRCm39)	S839T	probably damaging	Het
Rusc1	A	G	3: 88,998,736 (GRCm39)	S349P	possibly damaging	Het
Samsn1	A	T	16: 75,742,217 (GRCm39)		noncoding transcript	Het
Scimp	A	G	11: 70,691,539 (GRCm39)	V30A	probably damaging	Het
Serpinb13	C	T	1: 106,910,574 (GRCm39)	S66L	probably damaging	Het
Sgip1	A	G	4: 102,823,419 (GRCm39)	D680G	probably damaging	Het
Slc44a2	G	A	9: 21,259,691 (GRCm39)	V613M	probably damaging	Het
Smpdl3b	T	C	4: 132,472,489 (GRCm39)	T95A	probably damaging	Het
Spag6l	A	T	16: 16,610,395 (GRCm39)	L85H	probably damaging	Het
Sucla2	T	A	14: 73,806,429 (GRCm39)	Y167N	possibly damaging	Het
Svop	G	T	5: 114,203,546 (GRCm39)		probably benign	Het
Tnxb	A	T	17: 34,918,041 (GRCm39)	D2318V	probably damaging	Het
Trbv14	A	G	6: 41,112,332 (GRCm39)	D43G	probably benign	Het
Ubn2	A	G	6: 38,499,240 (GRCm39)		probably benign	Het
Ufsp1	T	C	5: 137,293,569 (GRCm39)	I173T	probably damaging	Het
Zbtb40	A	G	4: 136,746,072 (GRCm39)		probably benign	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
R2039:Bmal1	UTSW	7	112,884,319 (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
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'- AGCAGTGAGTCCAAAGCTGG -3'
(R):5'- TGTCAAGATCTGCTCCATAGAG -3'

Sequencing Primer
(F):5'- TGAGGAGACCTGTTCAGACACTC -3'
(R):5'- TCCATAGAGCATGACACCAGG -3'

Posted On

2015-11-11