Mutagenetix > Incidental Mutation

Incidental Mutation 'R8260:Bmal1'

640002

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

067685-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.791) question?

Stock #

R8260 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

112806672-112913333 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 112884258 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 92 (I92F)

Ref Sequence

ENSEMBL: ENSMUSP00000046235 (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: I92F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000046235
Gene: ENSMUSG00000055116
AA Change: I92F

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: I79F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Predicted Effect

probably damaging
Transcript: ENSMUST00000210238
AA Change: I92F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Predicted Effect

probably damaging
Transcript: ENSMUST00000211770
AA Change: I99F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

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: 86 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930578I06Rik	G	C	14: 64,223,633 (GRCm39)	L48V	probably benign	Het
Acbd3	T	C	1: 180,566,095 (GRCm39)	Y263H	probably damaging	Het
Acot4	C	A	12: 84,088,809 (GRCm39)	P219Q	possibly damaging	Het
Adcy6	A	G	15: 98,498,919 (GRCm39)	F294S	probably damaging	Het
Ahcyl	T	C	16: 45,974,786 (GRCm39)	E197G	probably damaging	Het
Aplf	T	C	6: 87,606,987 (GRCm39)	R476G	probably benign	Het
Arid1b	A	G	17: 5,382,788 (GRCm39)	T1292A	probably benign	Het
Atp2c1	T	A	9: 105,295,778 (GRCm39)	I649F	probably damaging	Het
Bbs10	C	T	10: 111,136,104 (GRCm39)	Q406*	probably null	Het
Bcas3	T	A	11: 85,400,372 (GRCm39)	M447K	possibly damaging	Het
Cars1	T	C	7: 143,139,446 (GRCm39)	D214G	probably benign	Het
Ccdc88a	A	T	11: 29,443,934 (GRCm39)	I1410F	probably benign	Het
Cd55b	A	T	1: 130,316,415 (GRCm39)	L378H	probably damaging	Het
Cdh1	G	A	8: 107,330,979 (GRCm39)	E37K	probably benign	Het
Cep72	T	C	13: 74,206,465 (GRCm39)	Y119C	probably damaging	Het
Ctnnd2	A	G	15: 30,634,879 (GRCm39)	T176A	possibly damaging	Het
D630045J12Rik	T	A	6: 38,119,846 (GRCm39)		probably null	Het
Ddi1	A	T	9: 6,265,524 (GRCm39)	C282S	probably damaging	Het
Ddit4	T	C	10: 59,787,277 (GRCm39)	T20A	probably benign	Het
Dpp10	T	A	1: 123,614,024 (GRCm39)	T102S	probably benign	Het
Ep400	T	A	5: 110,903,478 (GRCm39)	K374*	probably null	Het
Epha3	A	G	16: 63,403,917 (GRCm39)	L728P	probably damaging	Het
Fbxw21	C	A	9: 108,975,614 (GRCm39)		probably null	Het
Frmpd1	A	G	4: 45,244,638 (GRCm39)	E109G	probably damaging	Het
Ggt1	C	T	10: 75,417,245 (GRCm39)	P332L	probably damaging	Het
Gm4779	G	C	X: 100,837,390 (GRCm39)	T171S	possibly damaging	Het
Gm5431	A	T	11: 48,785,556 (GRCm39)	I273K	probably benign	Het
Gon4l	A	G	3: 88,799,937 (GRCm39)	N861D	probably damaging	Het
Grm5	T	C	7: 87,724,340 (GRCm39)		probably null	Het
Helt	T	C	8: 46,745,745 (GRCm39)	N84S	possibly damaging	Het
Hnrnpa0	G	T	13: 58,275,228 (GRCm39)	Y300*	probably null	Het
Ints1	T	C	5: 139,750,968 (GRCm39)	T810A		Het
Irf2bp1	C	T	7: 18,740,079 (GRCm39)	A573V	possibly damaging	Het
Itgbl1	C	A	14: 124,065,246 (GRCm39)	D133E	probably benign	Het
Kctd15	A	G	7: 34,344,267 (GRCm39)	F128S	possibly damaging	Het
Klra17	T	A	6: 129,808,421 (GRCm39)	N271Y	probably damaging	Het
Kmt2c	T	A	5: 25,610,514 (GRCm39)	E197D	possibly damaging	Het
Larp1	C	A	11: 57,949,515 (GRCm39)	T1048K	probably benign	Het
Macf1	A	G	4: 123,365,863 (GRCm39)	V2966A	probably benign	Het
Magi3	A	G	3: 103,922,625 (GRCm39)	L1364P	probably benign	Het
Malrd1	T	C	2: 15,619,017 (GRCm39)	S294P		Het
Med13l	C	T	5: 118,886,794 (GRCm39)	T1565I	possibly damaging	Het
Mov10l1	A	G	15: 88,896,313 (GRCm39)	D719G	probably benign	Het
Mtcl3	T	A	10: 29,024,270 (GRCm39)	H395Q	possibly damaging	Het
Muc4	CAC	CACTAC	16: 32,575,367 (GRCm39)		probably benign	Het
Myh14	T	C	7: 44,264,800 (GRCm39)	E1654G	probably damaging	Het
Myo1c	C	T	11: 75,546,942 (GRCm39)		probably benign	Het
Myo9a	A	G	9: 59,817,961 (GRCm39)	T2343A	probably benign	Het
Or1j12	A	G	2: 36,342,897 (GRCm39)	Q100R	probably damaging	Het
Or2ag18	A	T	7: 106,405,234 (GRCm39)	V145E	possibly damaging	Het
Or2d2b	A	T	7: 106,706,062 (GRCm39)	M2K	probably benign	Het
Or4m1	T	C	14: 50,557,615 (GRCm39)	K226E	probably benign	Het
Or52m2	T	A	7: 102,263,432 (GRCm39)	I255F	possibly damaging	Het
Or52n5	T	A	7: 104,587,879 (GRCm39)	Y49N	probably damaging	Het
Or6c2	T	A	10: 129,362,957 (GRCm39)	I287N	possibly damaging	Het
Or8k53	T	A	2: 86,177,276 (GRCm39)	Y278F	possibly damaging	Het
Or9g3	A	T	2: 85,589,820 (GRCm39)	L300Q	probably damaging	Het
Osmr	A	T	15: 6,844,897 (GRCm39)	D957E	probably benign	Het
Pappa	T	A	4: 65,234,419 (GRCm39)	V1408E	probably damaging	Het
Pcnx3	C	T	19: 5,715,412 (GRCm39)	G1946E	probably damaging	Het
Pdcd6ip	A	T	9: 113,501,865 (GRCm39)	D464E	probably benign	Het
Pde1c	T	C	6: 56,114,404 (GRCm39)	Y503C	probably benign	Het
Potefam3d	A	T	8: 69,972,400 (GRCm39)	D116E	possibly damaging	Het
Prob1	T	A	18: 35,787,210 (GRCm39)	E348V	possibly damaging	Het
Rnls	A	G	19: 33,180,048 (GRCm39)	L134S	probably damaging	Het
Scrn3	T	C	2: 73,166,202 (GRCm39)	Y412H	probably damaging	Het
Serpina3g	T	C	12: 104,205,362 (GRCm39)	S34P	probably benign	Het
Sertad3	G	A	7: 27,175,784 (GRCm39)	A73T	probably benign	Het
Sez6l	C	T	5: 112,609,122 (GRCm39)	A576T	probably benign	Het
Sh3tc2	G	A	18: 62,146,137 (GRCm39)	R1172H	probably damaging	Het
Sirt3	A	G	7: 140,456,319 (GRCm39)	V110A		Het
Smpd3	A	T	8: 106,984,047 (GRCm39)	D557E	probably benign	Het
Sptssb	A	T	3: 69,728,305 (GRCm39)	M44K	probably damaging	Het
Tars2	A	G	3: 95,662,132 (GRCm39)	W7R	probably damaging	Het
Tbc1d9b	A	G	11: 50,055,013 (GRCm39)	D964G	probably benign	Het
Tiam2	A	T	17: 3,568,594 (GRCm39)	D1580V	possibly damaging	Het
Tmeff2	T	A	1: 50,977,478 (GRCm39)	V130D	probably damaging	Het
Top2a	T	A	11: 98,891,595 (GRCm39)	E1176V	probably null	Het
Trappc9	C	A	15: 72,813,758 (GRCm39)	E680*	probably null	Het
Trip10	A	G	17: 57,564,314 (GRCm39)	N355S	probably benign	Het
Ttn	T	C	2: 76,596,337 (GRCm39)	E20192G	probably damaging	Het
Vmn2r96	A	G	17: 18,804,243 (GRCm39)	M306V	probably benign	Het
Wdr90	A	T	17: 26,064,141 (GRCm39)	H1860Q	probably damaging	Het
Wrnip1	A	G	13: 32,989,339 (GRCm39)	I276V	possibly damaging	Het
Zfp608	T	C	18: 55,030,821 (GRCm39)	K1040E	possibly damaging	Het
Zfp808	T	A	13: 62,320,552 (GRCm39)	C594S	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
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
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'- TGGAAGCAGTCACAACTCAG -3'
(R):5'- GTAGGCAAGAGTGGTCATACC -3'

Sequencing Primer
(F):5'- CTGGAACTCACTTTGTAGACCAGG -3'
(R):5'- CAAGAGTGGTCATACCTGTAGTC -3'

Posted On

2020-07-28