Mutagenetix > Incidental Mutation

Incidental Mutation 'R7908:Bmal1'

610279

Institutional Source

Beutler Lab

Gene Symbol

Bmal1

Ensembl Gene

ENSMUSG00000055116

Gene Name

basic helix-loop-helix ARNT like 1

Synonyms

MOP3, Arntl, Arnt3, bHLHe5

Accession Numbers

Essential gene?

Probably essential (E-score: 0.791) question?

Stock #

R7908 (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 112912680 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Leucine at position 579 (I579L)

Ref Sequence

ENSEMBL: ENSMUSP00000046235 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000047091] [ENSMUST00000047321] [ENSMUST00000117577] [ENSMUST00000119278] [ENSMUST00000135510] [ENSMUST00000210074] [ENSMUST00000210238] [ENSMUST00000211770]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000047091

SMART Domains

Protein: ENSMUSP00000048530
Gene: ENSMUSG00000038187

Domain	Start	End	E-Value	Type
low complexity region	60	75	N/A	INTRINSIC
low complexity region	106	147	N/A	INTRINSIC
BTB	167	272	1.58e-4	SMART
low complexity region	311	322	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000047321
AA Change: I579L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000046235
Gene: ENSMUSG00000055116
AA Change: I579L

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 benign
Transcript: ENSMUST00000117577

SMART Domains

Protein: ENSMUSP00000113496
Gene: ENSMUSG00000038187

Domain	Start	End	E-Value	Type
low complexity region	68	83	N/A	INTRINSIC
low complexity region	114	155	N/A	INTRINSIC
BTB	175	280	1.58e-4	SMART
low complexity region	319	330	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000119278

SMART Domains

Protein: ENSMUSP00000113632
Gene: ENSMUSG00000038187

Domain	Start	End	E-Value	Type
low complexity region	12	27	N/A	INTRINSIC
low complexity region	58	99	N/A	INTRINSIC
BTB	119	224	1.58e-4	SMART
low complexity region	263	274	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000135510

SMART Domains

Protein: ENSMUSP00000114806
Gene: ENSMUSG00000038187

Domain	Start	End	E-Value	Type
low complexity region	60	75	N/A	INTRINSIC
low complexity region	106	147	N/A	INTRINSIC
SCOP:d1t1da_	167	198	3e-6	SMART
Blast:BTB	167	200	1e-15	BLAST

Predicted Effect

probably benign
Transcript: ENSMUST00000210074
AA Change: I566L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

Predicted Effect

probably benign
Transcript: ENSMUST00000210238
AA Change: I579L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

Predicted Effect

probably benign
Transcript: ENSMUST00000211770
AA Change: I586L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.6%

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: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A4galt	A	G	15: 83,112,577 (GRCm39)	F69L	probably benign	Het
Acsf3	A	G	8: 123,512,562 (GRCm39)	M328V	probably damaging	Het
Adam10	T	G	9: 70,669,046 (GRCm39)	V454G	possibly damaging	Het
Adamts15	T	C	9: 30,813,522 (GRCm39)	D881G	probably benign	Het
Adamtsl1	T	C	4: 86,274,676 (GRCm39)	V1244A	probably benign	Het
Ankfn1	G	A	11: 89,296,360 (GRCm39)	P123L	probably damaging	Het
Aox1	T	C	1: 58,145,227 (GRCm39)	I1331T	possibly damaging	Het
Atg14	T	A	14: 47,806,050 (GRCm39)		probably benign	Het
Btnl4	A	G	17: 34,692,161 (GRCm39)	M147T	possibly damaging	Het
Camk1g	T	C	1: 193,042,082 (GRCm39)	K56E	probably damaging	Het
Capn7	T	C	14: 31,088,202 (GRCm39)		probably null	Het
Cbln1	T	A	8: 88,198,724 (GRCm39)	T49S	probably benign	Het
Cc2d2a	T	C	5: 43,864,188 (GRCm39)	V763A	probably benign	Het
Cdc40	A	G	10: 40,724,042 (GRCm39)	Y249H	probably damaging	Het
Cfap61	T	A	2: 145,944,019 (GRCm39)	L762H	probably damaging	Het
Cfap68	T	A	9: 50,675,248 (GRCm39)	T153S	possibly damaging	Het
Cfap73	T	C	5: 120,768,123 (GRCm39)	T212A	probably benign	Het
Cfi	A	G	3: 129,642,233 (GRCm39)	E29G	probably benign	Het
Chmp6	A	T	11: 119,804,656 (GRCm39)		probably benign	Het
Clec14a	T	C	12: 58,314,465 (GRCm39)	T386A	possibly damaging	Het
Coq6	T	A	12: 84,417,940 (GRCm39)	L268H	probably damaging	Het
Cpt1a	T	C	19: 3,412,202 (GRCm39)	S225P	probably benign	Het
Dhx58	C	A	11: 100,586,130 (GRCm39)	L630F	probably damaging	Het
Dlg2	T	A	7: 91,549,981 (GRCm39)	V158E	probably damaging	Het
Fcgbpl1	A	T	7: 27,846,921 (GRCm39)	Y1168F	probably benign	Het
Foxd3	A	G	4: 99,545,576 (GRCm39)	T239A	probably benign	Het
Galnt6	T	C	15: 100,601,242 (GRCm39)	T346A	probably damaging	Het
Guca1b	C	G	17: 47,702,102 (GRCm39)	T185S	unknown	Het
H2-M5	T	C	17: 37,298,571 (GRCm39)	T292A	probably benign	Het
Hlx	T	C	1: 184,459,773 (GRCm39)	H455R	probably benign	Het
Hydin	A	G	8: 111,237,499 (GRCm39)	Y1924C	probably benign	Het
Ighg2b	C	T	12: 113,270,074 (GRCm39)	V315M		Het
Ildr2	A	G	1: 166,135,369 (GRCm39)	K374E	probably damaging	Het
Jmjd1c	T	C	10: 67,061,621 (GRCm39)	S1144P	probably benign	Het
Kcnj8	T	C	6: 142,511,755 (GRCm39)	D284G	probably benign	Het
Kri1	TTCCTCCTCCTCCTCCTCCTCCTCCTCCTC	TTCCTCCTCCTCCTCCTCCTCCTCCTC	9: 21,192,352 (GRCm39)		probably benign	Het
Lingo4	A	G	3: 94,309,541 (GRCm39)	T160A	probably benign	Het
Lmod3	G	T	6: 97,225,434 (GRCm39)	A129E	probably benign	Het
Lrrk2	T	C	15: 91,610,355 (GRCm39)	C696R	probably damaging	Het
Mc2r	A	G	18: 68,541,036 (GRCm39)	F86L	probably benign	Het
Mppe1	T	G	18: 67,362,055 (GRCm39)	K170T	probably benign	Het
Mtcl1	A	G	17: 66,678,325 (GRCm39)	I667T	possibly damaging	Het
Mtnr1a	A	T	8: 45,540,863 (GRCm39)	I275F	probably benign	Het
Myh2	A	G	11: 67,088,197 (GRCm39)	I1938V	probably benign	Het
Npsr1	A	T	9: 24,201,096 (GRCm39)	E160V	probably damaging	Het
Or13c7b	T	A	4: 43,821,086 (GRCm39)	I92F	probably damaging	Het
Or5ac23	C	T	16: 59,149,606 (GRCm39)	D89N	possibly damaging	Het
Or6c3	T	A	10: 129,308,867 (GRCm39)	I102N	probably damaging	Het
Ovch2	T	A	7: 107,388,326 (GRCm39)	Y418F	probably damaging	Het
Pak5	A	G	2: 135,958,479 (GRCm39)	L203S	probably benign	Het
Pcdh15	A	T	10: 74,479,414 (GRCm39)	E508D	probably benign	Het
Prl7a1	T	C	13: 27,826,433 (GRCm39)	M1V	probably null	Het
Prorp	A	T	12: 55,426,250 (GRCm39)	K533N	possibly damaging	Het
Prpsap2	G	T	11: 61,647,098 (GRCm39)	N14K	possibly damaging	Het
Rad54b	T	A	4: 11,595,868 (GRCm39)	V215E	probably null	Het
Ryr2	G	A	13: 11,807,634 (GRCm39)	T845I	probably benign	Het
Scgb2b3	G	A	7: 31,061,439 (GRCm39)	T20I	probably damaging	Het
Serpina1b	T	C	12: 103,694,566 (GRCm39)	I393V	possibly damaging	Het
Slc13a5	T	C	11: 72,149,890 (GRCm39)	M207V	probably benign	Het
Slc49a3	T	C	5: 108,592,363 (GRCm39)	I276V	probably benign	Het
Smg1	A	T	7: 117,785,357 (GRCm39)	L843M	unknown	Het
Sp100	T	C	1: 85,635,788 (GRCm39)	V531A	possibly damaging	Het
Srsf6	T	C	2: 162,775,760 (GRCm39)	S190P	unknown	Het
Stil	A	G	4: 114,889,896 (GRCm39)	K795E	possibly damaging	Het
Sugp2	A	G	8: 70,704,577 (GRCm39)	R705G	probably benign	Het
Tnfrsf11a	T	A	1: 105,737,099 (GRCm39)	C69S	probably damaging	Het
Trim30a	A	T	7: 104,070,656 (GRCm39)	N252K	probably benign	Het
Tshz1	T	A	18: 84,032,732 (GRCm39)	K559*	probably null	Het
Ttbk1	C	T	17: 46,789,864 (GRCm39)	R133H	probably damaging	Het
Vmn1r1	T	C	1: 181,984,915 (GRCm39)	Y250C	probably benign	Het
Vmn2r12	A	G	5: 109,234,307 (GRCm39)	L635P	probably damaging	Het
Vmn2r52	C	A	7: 9,896,877 (GRCm39)	V532L	probably benign	Het
Vwa5b1	A	T	4: 138,296,481 (GRCm39)	L1182*	probably null	Het
Washc2	A	G	6: 116,225,106 (GRCm39)	D818G	probably benign	Het
Xylb	T	G	9: 119,210,611 (GRCm39)	S365A	probably benign	Het
Zcchc8	T	C	5: 123,858,783 (GRCm39)		probably benign	Het
Zdbf2	T	C	1: 63,345,986 (GRCm39)	I1455T	possibly 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
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
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'- GAACCAACTCTTGACTAACTCGTTAC -3'
(R):5'- CACTTTGATACTGCAGCTGTTG -3'

Sequencing Primer
(F):5'- GATGTTCTTTCTGAAAGGGTAGTAAC -3'
(R):5'- GCCAAAGCAAATGTAGTGTCTAC -3'

Posted On

2019-12-20