Mutagenetix > Incidental Mutation

Incidental Mutation 'R7218:Bmal1'

561597

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

045290-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.788) question?

Stock #

R7218 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

112806672-112913333 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 112886390 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Leucine at position 149 (H149L)

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: H149L

PolyPhen 2 Score 0.964 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000046235
Gene: ENSMUSG00000055116
AA Change: H149L

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: H136L

PolyPhen 2 Score 0.331 (Sensitivity: 0.90; Specificity: 0.89)

Predicted Effect

probably damaging
Transcript: ENSMUST00000210238
AA Change: H149L

PolyPhen 2 Score 0.964 (Sensitivity: 0.78; Specificity: 0.95)

Predicted Effect

probably benign
Transcript: ENSMUST00000211770
AA Change: H156L

PolyPhen 2 Score 0.192 (Sensitivity: 0.92; Specificity: 0.87)

Meta Mutation Damage Score

0.4461

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

100% (69/69)

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: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1600014C23Rik	T	C	17: 46,043,977 (GRCm39)	T94A	unknown	Het
1700025G04Rik	T	C	1: 151,791,259 (GRCm39)	R101G	probably damaging	Het
6430548M08Rik	T	A	8: 120,872,322 (GRCm39)	S83R	probably damaging	Het
Actn2	A	G	13: 12,293,799 (GRCm39)	S574P	probably benign	Het
Ank	A	T	15: 27,544,407 (GRCm39)	Y56F	probably damaging	Het
Ano7	A	G	1: 93,308,191 (GRCm39)	D74G	probably benign	Het
Apaf1	T	A	10: 90,872,864 (GRCm39)	T738S	probably damaging	Het
Apcs	A	T	1: 172,722,231 (GRCm39)	D38E	possibly damaging	Het
Asap1	G	A	15: 64,002,099 (GRCm39)	T404M	probably damaging	Het
Atp8a1	T	A	5: 67,860,324 (GRCm39)	D717V		Het
Baiap2l1	A	G	5: 144,212,687 (GRCm39)	S443P	probably benign	Het
Brix1	T	C	15: 10,483,378 (GRCm39)		probably null	Het
C1qtnf6	T	C	15: 78,411,574 (GRCm39)	E34G	probably benign	Het
Chil3	A	C	3: 106,067,853 (GRCm39)		probably null	Het
Chmp4c	T	A	3: 10,432,198 (GRCm39)	L36Q	probably damaging	Het
Chrna2	T	A	14: 66,381,320 (GRCm39)		probably null	Het
Clec1a	C	T	6: 129,413,918 (GRCm39)	C57Y	probably damaging	Het
Clec7a	G	T	6: 129,445,885 (GRCm39)	T95K	probably damaging	Het
Csf1r	C	A	18: 61,263,396 (GRCm39)	S926R	probably damaging	Het
Dnajc9	A	G	14: 20,438,507 (GRCm39)	I61T	probably benign	Het
Extl1	T	G	4: 134,087,080 (GRCm39)	S493R	probably benign	Het
Fance	A	G	17: 28,545,148 (GRCm39)	D143G	probably benign	Het
Fcho2	C	T	13: 98,890,121 (GRCm39)		probably null	Het
Filip1	T	C	9: 79,725,356 (GRCm39)	S1088G	probably benign	Het
Gnat1	A	C	9: 107,553,184 (GRCm39)	M319R	possibly damaging	Het
Gpr132	A	T	12: 112,816,049 (GRCm39)	V259E	probably damaging	Het
Gprc5d	T	A	6: 135,093,452 (GRCm39)	M152L	probably benign	Het
Hif3a	C	T	7: 16,784,513 (GRCm39)	R244H	probably damaging	Het
Hivep3	T	C	4: 119,952,649 (GRCm39)	S322P	possibly damaging	Het
Il33	T	A	19: 29,936,325 (GRCm39)	F229I	probably damaging	Het
Il4ra	A	G	7: 125,174,950 (GRCm39)	D386G	probably benign	Het
Ino80	G	T	2: 119,288,608 (GRCm39)	H33N	probably benign	Het
Ip6k1	A	G	9: 107,922,781 (GRCm39)	D228G	unknown	Het
Mamdc2	C	T	19: 23,424,974 (GRCm39)	A40T	probably benign	Het
Meis3	T	C	7: 15,918,626 (GRCm39)	V357A	probably benign	Het
Mycbp2	T	C	14: 103,371,282 (GRCm39)	T4199A	probably benign	Het
Myo7b	A	T	18: 32,114,054 (GRCm39)	M1099K	probably benign	Het
Mzb1	A	T	18: 35,780,975 (GRCm39)	H104Q	probably benign	Het
Nfatc2	A	G	2: 168,413,184 (GRCm39)	L167P	probably benign	Het
Numa1	A	T	7: 101,650,117 (GRCm39)	S1283C	probably benign	Het
Nup98	T	G	7: 101,841,107 (GRCm39)		probably null	Het
Or13p4	T	C	4: 118,547,215 (GRCm39)	I145V	probably benign	Het
Or5p55	T	C	7: 107,566,874 (GRCm39)	L90P	probably benign	Het
Pkhd1l1	A	G	15: 44,386,091 (GRCm39)	T1243A	possibly damaging	Het
Pramel39-ps	C	A	5: 94,451,113 (GRCm39)	V338F	probably benign	Het
Ptpro	C	T	6: 137,431,596 (GRCm39)	R1152W	probably damaging	Het
Ptprt	T	C	2: 161,389,284 (GRCm39)	T1270A	probably damaging	Het
Pwwp2b	A	C	7: 138,836,049 (GRCm39)	T497P	probably damaging	Het
Rab44	T	A	17: 29,358,418 (GRCm39)	V202E		Het
Rbfox1	C	T	16: 7,111,947 (GRCm39)	T191I	probably damaging	Het
Rufy4	A	G	1: 74,172,174 (GRCm39)	K299R	probably damaging	Het
Snip1	T	A	4: 124,966,712 (GRCm39)	S381T	probably damaging	Het
Spen	T	C	4: 141,199,961 (GRCm39)	I2889V	possibly damaging	Het
Spopfm2	A	T	3: 94,082,856 (GRCm39)	H318Q	possibly damaging	Het
St3gal3	T	A	4: 117,814,639 (GRCm39)	D218V		Het
Sun1	A	G	5: 139,212,442 (GRCm39)	T70A	unknown	Het
Tbc1d23	C	T	16: 56,990,745 (GRCm39)	V678M	probably damaging	Het
Tdh	T	A	14: 63,733,206 (GRCm39)	Y195F	probably damaging	Het
Tescl	C	T	7: 24,033,286 (GRCm39)	R13H	possibly damaging	Het
Tfap2c	T	A	2: 172,399,277 (GRCm39)	M508K	probably benign	Het
Trappc4	A	G	9: 44,316,587 (GRCm39)	M136T	probably benign	Het
Tyk2	A	G	9: 21,016,350 (GRCm39)	C1207R	probably damaging	Het
Ugt2b36	T	C	5: 87,229,398 (GRCm39)	Y355C	probably damaging	Het
Vmn1r119	T	A	7: 20,745,572 (GRCm39)	H270L	probably benign	Het
Vmn2r20	G	A	6: 123,363,074 (GRCm39)	P570L	probably damaging	Het
Wnk1	A	C	6: 119,979,234 (GRCm39)	Y284*	probably null	Het
Yars2	C	T	16: 16,121,182 (GRCm39)	A112V	probably damaging	Het
Zer1	T	C	2: 29,995,024 (GRCm39)	N470S	probably damaging	Het
Zfp747l1	A	T	7: 126,983,852 (GRCm39)	S417T	probably benign	Het
Zfp879	A	C	11: 50,723,508 (GRCm39)	V516G	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
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'- TCCACCAAGATTTAGTGAGCG -3'
(R):5'- AAGGGATGTGAAATGTGCCC -3'

Sequencing Primer
(F):5'- TCCACCAAGATTTAGTGAGCGAGTAG -3'
(R):5'- GGATGTGAAATGTGCCCAAAATC -3'

Posted On

2019-06-26