Mutagenetix > Incidental Mutation

Incidental Mutation 'R5913:Bhlhe40'

461114

Institutional Source

Beutler Lab

Gene Symbol

Bhlhe40

Ensembl Gene

ENSMUSG00000030103

Gene Name

basic helix-loop-helix family, member e40

Synonyms

C130042M06Rik, Clast5, DEC1, CR8, Stra14, cytokine response gene 8, Sharp2, eip1 (E47 interaction protein 1), Bhlhb2, Stra13

MMRRC Submission

044110-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5913 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

108637590-108643886 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 108642154 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Arginine at position 366 (M366R)

Ref Sequence

ENSEMBL: ENSMUSP00000032194 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000032194] [ENSMUST00000163617]

AlphaFold

O35185

Predicted Effect

possibly damaging
Transcript: ENSMUST00000032194
AA Change: M366R

PolyPhen 2 Score 0.791 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000032194
Gene: ENSMUSG00000030103
AA Change: M366R

Domain	Start	End	E-Value	Type
HLH	58	113	2.52e-11	SMART
ORANGE	140	184	5.91e-13	SMART
low complexity region	230	248	N/A	INTRINSIC
low complexity region	372	399	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000137478

Predicted Effect

probably benign
Transcript: ENSMUST00000163617

SMART Domains

Protein: ENSMUSP00000132157
Gene: ENSMUSG00000030103

Domain	Start	End	E-Value	Type
HLH	58	113	2.52e-11	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000166346

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000204550

Meta Mutation Damage Score

0.0734

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.0%
20x: 94.3%

Validation Efficiency

97% (75/77)

MGI Phenotype

FUNCTION: This gene encodes a basic helix-loop-helix protein expressed in various tissues. The encoded protein can interact with Arntl or compete for E-box binding sites in the promoter of Per1 and repress Clock/Arntl's transactivation of Per1. This gene is believed to be involved in the control of circadian rhythm and cell differentiation. [provided by RefSeq, Feb 2014]
PHENOTYPE: Homozygous mutation of this gene results in impaired immune function and hyperplasia of the lymphoid organs. Aging mutant animals exhibit autoimmune disease. [provided by MGI curators]

Allele List at MGI

All alleles(4) : Targeted, knock-out(2) Targeted, other(2)

Other mutations in this stock

Total: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Als2cl	A	T	9: 110,718,773 (GRCm39)		probably null	Het
Arhgef19	A	T	4: 140,976,609 (GRCm39)	H457L	probably benign	Het
Armc3	A	G	2: 19,314,858 (GRCm39)	Y856C	possibly damaging	Het
Bdp1	A	T	13: 100,187,612 (GRCm39)	V1585D	probably benign	Het
Bora	C	T	14: 99,305,948 (GRCm39)	S439L	probably benign	Het
Cacnb4	G	A	2: 52,324,796 (GRCm39)		probably benign	Het
Carm1	T	C	9: 21,498,848 (GRCm39)	S529P	probably benign	Het
Cd200r1	A	G	16: 44,610,034 (GRCm39)	I84M	possibly damaging	Het
Cd209a	A	G	8: 3,798,742 (GRCm39)	S22P	probably benign	Het
Celf2	A	T	2: 7,085,969 (GRCm39)	M1K	probably null	Het
Cep112	A	G	11: 108,648,514 (GRCm39)	T783A	probably damaging	Het
Cep95	T	C	11: 106,709,335 (GRCm39)		probably benign	Het
Clip4	G	A	17: 72,131,760 (GRCm39)	R366K	probably benign	Het
Csmd2	A	G	4: 128,445,781 (GRCm39)	K3284E	probably benign	Het
Csn3	T	A	5: 88,075,470 (GRCm39)	L12Q	probably damaging	Het
Ctdnep1	T	C	11: 69,879,691 (GRCm39)	L39P	probably damaging	Het
Cxcl17	C	T	7: 25,101,671 (GRCm39)	W55*	probably null	Het
Cyp2u1	G	A	3: 131,096,860 (GRCm39)		probably benign	Het
Dmgdh	A	T	13: 93,888,831 (GRCm39)	E823V	possibly damaging	Het
Dnah2	T	C	11: 69,339,256 (GRCm39)	I3078V	probably damaging	Het
Dpp10	A	C	1: 123,312,018 (GRCm39)	Y446D	probably damaging	Het
Eif2s3y	T	C	Y: 1,017,365 (GRCm39)	V290A	probably benign	Homo
Fktn	G	A	4: 53,735,035 (GRCm39)	W224*	probably null	Het
Gm37240	T	C	3: 84,874,905 (GRCm39)		probably benign	Het
Gpr3	A	G	4: 132,938,489 (GRCm39)	V61A	probably damaging	Het
Gulo	T	C	14: 66,237,470 (GRCm39)		probably null	Het
Hax1	GTCATCATCATCATCATC	GTCATCATCATCATCATCATC	3: 89,905,247 (GRCm39)		probably benign	Het
Hectd4	T	A	5: 121,462,037 (GRCm39)	I968K	possibly damaging	Het
Hmox2	G	T	16: 4,582,732 (GRCm39)	R155L	probably damaging	Het
Ifnlr1	C	A	4: 135,432,580 (GRCm39)	Q339K	probably damaging	Het
Ifnlr1	A	T	4: 135,432,581 (GRCm39)	Q339L	probably damaging	Het
Irf4	T	A	13: 30,941,741 (GRCm39)	S365T	probably benign	Het
Klrb1a	T	G	6: 128,595,472 (GRCm39)	D124A	probably damaging	Het
Macf1	A	T	4: 123,369,832 (GRCm39)	I78N	probably damaging	Het
Mctp1	G	T	13: 76,907,944 (GRCm39)		probably null	Het
Muc21	C	T	17: 35,934,123 (GRCm39)		probably benign	Het
Mxra8	A	T	4: 155,927,760 (GRCm39)		probably null	Het
Nlrp2	T	A	7: 5,327,902 (GRCm39)		probably null	Het
Or1e16	AGCGGTCGTAGGC	AGC	11: 73,286,480 (GRCm39)		probably null	Het
P2ry13	T	C	3: 59,116,786 (GRCm39)	T331A	probably benign	Het
Padi2	G	A	4: 140,644,952 (GRCm39)	R62H	probably benign	Het
Pcdhb15	A	T	18: 37,607,707 (GRCm39)	Q313L	probably benign	Het
Pcdhga11	A	G	18: 37,889,045 (GRCm39)	I18V	probably benign	Het
Pcdhga11	A	G	18: 37,891,142 (GRCm39)	R717G	probably benign	Het
Pcif1	C	A	2: 164,726,412 (GRCm39)		probably benign	Het
Pkd1l1	T	C	11: 8,813,849 (GRCm39)	T1501A	probably benign	Het
Plekhg2	C	A	7: 28,064,027 (GRCm39)	R473L	probably damaging	Het
Plekhn1	T	C	4: 156,307,152 (GRCm39)	Y466C	probably damaging	Het
Sec22c	A	G	9: 121,519,368 (GRCm39)	S83P	possibly damaging	Het
Sgcz	T	A	8: 37,993,425 (GRCm39)	Q224L	possibly damaging	Het
Slc27a1	C	T	8: 72,036,907 (GRCm39)	P381L	probably benign	Het
Slc8a1	T	A	17: 81,955,431 (GRCm39)	I536F	probably damaging	Het
Src	T	A	2: 157,307,950 (GRCm39)		probably null	Het
Sybu	T	A	15: 44,651,017 (GRCm39)	T96S	probably damaging	Het
Tbc1d22a	T	C	15: 86,235,929 (GRCm39)	Y363H	probably damaging	Het
Tdrd6	T	C	17: 43,939,302 (GRCm39)	E582G	possibly damaging	Het
Tmem131	C	A	1: 36,858,209 (GRCm39)	V713L	probably benign	Het
Tnfsf13b	T	A	8: 10,056,988 (GRCm39)	L49Q	probably damaging	Het
Trem2	T	A	17: 48,653,661 (GRCm39)		probably benign	Het
Tspyl3	T	A	2: 153,066,636 (GRCm39)	M201L	probably benign	Het
Ttl	A	G	2: 128,917,961 (GRCm39)	D141G	probably benign	Het
Ube2z	A	G	11: 95,951,889 (GRCm39)	V153A	possibly damaging	Het
Ubr3	A	G	2: 69,851,559 (GRCm39)	Y1842C	probably damaging	Het
Usp33	T	C	3: 152,086,229 (GRCm39)	V656A	probably damaging	Het
Vmn2r74	G	A	7: 85,601,098 (GRCm39)	R847C	probably damaging	Het
Vmo1	A	T	11: 70,405,241 (GRCm39)	V63D	probably damaging	Het
Zcwpw1	T	A	5: 137,798,269 (GRCm39)	D155E	probably benign	Het
Zeb1	T	G	18: 5,766,765 (GRCm39)	S425R	possibly damaging	Het

Other mutations in Bhlhe40

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00495:Bhlhe40	APN	6	108,638,139 (GRCm39)	missense	probably benign	0.25
IGL01146:Bhlhe40	APN	6	108,641,901 (GRCm39)	missense	possibly damaging	0.60
IGL02950:Bhlhe40	APN	6	108,641,503 (GRCm39)	missense	probably damaging	1.00
teedoff	UTSW	6	108,641,818 (GRCm39)	frame shift	probably null
R0360:Bhlhe40	UTSW	6	108,641,711 (GRCm39)	missense	probably damaging	1.00
R1486:Bhlhe40	UTSW	6	108,641,890 (GRCm39)	missense	probably damaging	1.00
R5041:Bhlhe40	UTSW	6	108,639,546 (GRCm39)	missense	probably damaging	0.99
R5179:Bhlhe40	UTSW	6	108,642,169 (GRCm39)	missense	possibly damaging	0.55
R6281:Bhlhe40	UTSW	6	108,641,423 (GRCm39)	splice site	probably null
R6283:Bhlhe40	UTSW	6	108,641,992 (GRCm39)	missense	probably damaging	1.00
R6405:Bhlhe40	UTSW	6	108,641,818 (GRCm39)	frame shift	probably null
R6406:Bhlhe40	UTSW	6	108,641,818 (GRCm39)	frame shift	probably null
R6595:Bhlhe40	UTSW	6	108,641,818 (GRCm39)	frame shift	probably null
R6654:Bhlhe40	UTSW	6	108,641,818 (GRCm39)	frame shift	probably null
R6656:Bhlhe40	UTSW	6	108,641,818 (GRCm39)	frame shift	probably null
R6657:Bhlhe40	UTSW	6	108,641,818 (GRCm39)	frame shift	probably null
R6659:Bhlhe40	UTSW	6	108,641,818 (GRCm39)	frame shift	probably null
R6734:Bhlhe40	UTSW	6	108,641,818 (GRCm39)	frame shift	probably null
R6968:Bhlhe40	UTSW	6	108,641,818 (GRCm39)	frame shift	probably null
R7105:Bhlhe40	UTSW	6	108,641,997 (GRCm39)	missense	possibly damaging	0.96
R7323:Bhlhe40	UTSW	6	108,642,242 (GRCm39)	missense	probably benign	0.42
R7395:Bhlhe40	UTSW	6	108,641,818 (GRCm39)	frame shift	probably null
R7399:Bhlhe40	UTSW	6	108,641,818 (GRCm39)	frame shift	probably null
R7472:Bhlhe40	UTSW	6	108,641,818 (GRCm39)	frame shift	probably null
R7563:Bhlhe40	UTSW	6	108,641,818 (GRCm39)	frame shift	probably null
R7726:Bhlhe40	UTSW	6	108,639,559 (GRCm39)	missense	probably benign
R8058:Bhlhe40	UTSW	6	108,641,818 (GRCm39)	frame shift	probably null
R8319:Bhlhe40	UTSW	6	108,641,818 (GRCm39)	frame shift	probably null
R8320:Bhlhe40	UTSW	6	108,641,818 (GRCm39)	frame shift	probably null
R8380:Bhlhe40	UTSW	6	108,641,818 (GRCm39)	frame shift	probably null
R8381:Bhlhe40	UTSW	6	108,641,818 (GRCm39)	frame shift	probably null
R8428:Bhlhe40	UTSW	6	108,641,818 (GRCm39)	frame shift	probably null
R8431:Bhlhe40	UTSW	6	108,641,818 (GRCm39)	frame shift	probably null
R8432:Bhlhe40	UTSW	6	108,641,818 (GRCm39)	frame shift	probably null
R8988:Bhlhe40	UTSW	6	108,639,518 (GRCm39)	missense	probably damaging	1.00
R9381:Bhlhe40	UTSW	6	108,642,244 (GRCm39)	missense	probably damaging	1.00
R9582:Bhlhe40	UTSW	6	108,638,467 (GRCm39)	missense	probably benign	0.04

Predicted Primers

PCR Primer
(F):5'- AGTGATCTGATGGGTTCCCC -3'
(R):5'- CTGATCTCTCTGCACTCAGG -3'

Sequencing Primer
(F):5'- CCATTTCTTGGGCCACACC -3'
(R):5'- GGTTTTTGGAATTAGGGAGGAAAG -3'

Posted On

2017-02-28