Mutagenetix > Incidental Mutation

Incidental Mutation 'R8848:Bmal1'

674825

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

068671-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.788) question?

Stock #

R8848 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

112806672-112913333 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 112905327 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 506 (I506T)

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

possibly damaging
Transcript: ENSMUST00000047321
AA Change: I506T

PolyPhen 2 Score 0.622 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000046235
Gene: ENSMUSG00000055116
AA Change: I506T

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: ENSMUST00000210074
AA Change: I493T

PolyPhen 2 Score 0.020 (Sensitivity: 0.95; Specificity: 0.80)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000210238
AA Change: I506T

PolyPhen 2 Score 0.622 (Sensitivity: 0.87; Specificity: 0.91)

Predicted Effect

probably benign
Transcript: ENSMUST00000211770
AA Change: I513T

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)

Meta Mutation Damage Score

0.0968

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

100% (61/61)

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: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110059G10Rik	T	C	9: 122,778,106 (GRCm39)	D46G	probably benign	Het
Abcc8	A	T	7: 45,766,769 (GRCm39)	W1004R	possibly damaging	Het
Acbd3	T	A	1: 180,562,084 (GRCm39)		probably null	Het
Adh1	G	T	3: 137,986,262 (GRCm39)	C83F	probably benign	Het
Arhgef18	T	C	8: 3,477,481 (GRCm39)	V20A	probably benign	Het
Brf2	T	C	8: 27,616,140 (GRCm39)	I82V	probably benign	Het
C7	A	G	15: 5,088,911 (GRCm39)	V10A	probably damaging	Het
Cacna1d	C	T	14: 29,845,283 (GRCm39)	V651M	possibly damaging	Het
Cacna2d2	T	C	9: 107,391,855 (GRCm39)	I458T	possibly damaging	Het
Cadps2	C	A	6: 23,344,256 (GRCm39)	W897L	probably damaging	Het
Cdhr1	T	A	14: 36,802,531 (GRCm39)	N644I	probably benign	Het
Cox7c	A	T	13: 86,193,900 (GRCm39)	I55K	possibly damaging	Het
Cox8c	T	A	12: 102,865,577 (GRCm39)		probably benign	Het
Cyp2c40	G	A	19: 39,801,244 (GRCm39)	R4C	unknown	Het
Ehd3	A	T	17: 74,136,911 (GRCm39)		probably null	Het
Eif2b4	A	T	5: 31,348,210 (GRCm39)	C227S	probably damaging	Het
Erlec1	T	C	11: 30,898,411 (GRCm39)	Y213C	probably damaging	Het
F11	G	T	8: 45,695,281 (GRCm39)	Y562*	probably null	Het
Fam186a	A	G	15: 99,838,034 (GRCm39)	S2737P	possibly damaging	Het
Fat3	T	C	9: 15,878,398 (GRCm39)	E3361G	probably damaging	Het
Fbxl7	T	A	15: 26,552,902 (GRCm39)	M122L	probably benign	Het
Fras1	T	A	5: 96,929,207 (GRCm39)	N3870K	probably damaging	Het
Gm12185	T	A	11: 48,806,280 (GRCm39)	T304S	possibly damaging	Het
Grin3b	A	T	10: 79,809,667 (GRCm39)	D391V	probably benign	Het
Hao2	T	A	3: 98,784,528 (GRCm39)	D279V	probably damaging	Het
Il4i1	C	A	7: 44,489,175 (GRCm39)	D313E	probably damaging	Het
Kcnk7	T	A	19: 5,756,743 (GRCm39)	L244Q	probably damaging	Het
Lingo4	A	T	3: 94,310,840 (GRCm39)	M593L	probably benign	Het
Lix1	G	A	17: 17,663,955 (GRCm39)	A98T	probably damaging	Het
Lpo	T	A	11: 87,708,603 (GRCm39)	I132L	probably benign	Het
Mymx	A	T	17: 45,912,935 (GRCm39)		probably null	Het
Nms	T	C	1: 38,978,391 (GRCm39)	S9P	probably benign	Het
Nom1	A	G	5: 29,645,137 (GRCm39)	D535G	probably damaging	Het
Or2t43	T	A	11: 58,457,902 (GRCm39)	I90F	probably damaging	Het
Or5p81	T	A	7: 108,266,929 (GRCm39)	I102N	probably benign	Het
Or8k25	T	C	2: 86,243,821 (GRCm39)	T192A	probably benign	Het
Pgbd1	A	G	13: 21,607,052 (GRCm39)	C381R	probably damaging	Het
Pkp1	T	C	1: 135,807,652 (GRCm39)	S539G	probably damaging	Het
Plcd3	C	A	11: 102,971,446 (GRCm39)	R66L	probably benign	Het
Polr3a	A	T	14: 24,500,834 (GRCm39)	L1318Q	probably damaging	Het
Ppara	T	A	15: 85,673,188 (GRCm39)	F126L	possibly damaging	Het
Rab11a	T	C	9: 64,624,264 (GRCm39)	Y173C	probably damaging	Het
Rev3l	T	A	10: 39,722,705 (GRCm39)	M2566K	probably damaging	Het
Rwdd1	A	G	10: 33,884,987 (GRCm39)		probably null	Het
Scn7a	G	A	2: 66,530,393 (GRCm39)	R651*	probably null	Het
Slc15a4	T	G	5: 127,679,021 (GRCm39)	I440L	probably benign	Het
Slc28a2	A	G	2: 122,290,902 (GRCm39)	T623A	probably benign	Het
Snd1	T	A	6: 28,874,962 (GRCm39)	S628T	possibly damaging	Het
Speg	T	C	1: 75,404,082 (GRCm39)		probably null	Het
Spta1	G	A	1: 174,025,310 (GRCm39)	R725K	probably benign	Het
Stag3	A	G	5: 138,288,528 (GRCm39)	E185G	probably null	Het
Svop	G	T	5: 114,183,687 (GRCm39)	T195K		Het
Tbc1d5	A	T	17: 51,226,082 (GRCm39)	F254I	probably damaging	Het
Ulk3	T	C	9: 57,496,890 (GRCm39)	L8P	probably benign	Het
Unc13c	T	C	9: 73,433,263 (GRCm39)	I1973V	probably benign	Het
Upb1	T	A	10: 75,264,178 (GRCm39)		probably null	Het
Usp53	C	T	3: 122,742,825 (GRCm39)	G704S	probably benign	Het
Usp53	T	C	3: 122,743,235 (GRCm39)	D567G	probably benign	Het
Vmn1r72	T	A	7: 11,404,269 (GRCm39)	I60F	probably damaging	Het
Vmn2r34	C	T	7: 7,675,307 (GRCm39)	V694I	probably benign	Het
Vmn2r60	T	C	7: 41,786,169 (GRCm39)	F324S	probably damaging	Het
Vps37d	A	G	5: 135,102,519 (GRCm39)	S238P	probably damaging	Het
Zfp407	T	A	18: 84,578,819 (GRCm39)	I765F	probably damaging	Het
Zfp455	A	G	13: 67,356,089 (GRCm39)	I387M	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
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
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'- CTGCCAGAACTGTTTTCCTGAC -3'
(R):5'- GGAACGGAATAGTCCTGTGTG -3'

Sequencing Primer
(F):5'- CCAGAACTGTTTTCCTGACAAGGTAG -3'
(R):5'- TGGTATACACAGCATCCCTGG -3'

Posted On

2021-07-15