Mutagenetix > Incidental Mutation

Incidental Mutation 'R7399:Bhlhe40'

574028

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

045481-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7399 (G1)

Quality Score

217.468

Status

Validated

Chromosome

Chromosomal Location

108637590-108643886 bp(+) (GRCm39)

Type of Mutation

frame shift

DNA Base Change (assembly)

TG to TGG at 108641818 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

at position 254 (254)

Ref Sequence

ENSEMBL: ENSMUSP00000032194 (fasta)

Gene Model

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

AlphaFold

O35185

Predicted Effect

probably null
Transcript: ENSMUST00000032194
AA Change: 254

SMART Domains

Protein: ENSMUSP00000032194
Gene: ENSMUSG00000030103
AA Change: 254

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

0.9755

Coding Region Coverage

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

Validation Efficiency

99% (74/75)

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: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acaca	T	G	11: 84,151,505 (GRCm39)	V801G	possibly damaging	Het
Actbl2	T	A	13: 111,392,127 (GRCm39)	M154K	probably benign	Het
Adam7	A	T	14: 68,741,915 (GRCm39)		probably null	Het
Arfgef1	T	A	1: 10,251,122 (GRCm39)	T888S	probably benign	Het
AW554918	C	T	18: 25,302,117 (GRCm39)	P10L	possibly damaging	Het
Bcap29	A	G	12: 31,680,881 (GRCm39)	I35T	probably damaging	Het
Cby2	A	G	14: 75,830,077 (GRCm39)	S39P	probably benign	Het
Cdc25b	A	G	2: 131,036,574 (GRCm39)	D458G	probably damaging	Het
Cdc42bpb	T	C	12: 111,272,101 (GRCm39)	K1104R	probably benign	Het
Cep89	A	G	7: 35,137,803 (GRCm39)	N729S	probably damaging	Het
Clec4a4	T	A	6: 122,968,788 (GRCm39)	M51K	possibly damaging	Het
Dcdc2b	A	G	4: 129,503,422 (GRCm39)	L270P	probably damaging	Het
Dennd5b	G	T	6: 148,937,981 (GRCm39)	H639N	probably damaging	Het
Dnah11	T	G	12: 117,991,212 (GRCm39)	T2385P	probably benign	Het
Dnah11	T	C	12: 118,089,520 (GRCm39)	E1182G	probably damaging	Het
Dok7	T	C	5: 35,223,815 (GRCm39)	V81A	probably damaging	Het
Dtx1	T	A	5: 120,820,458 (GRCm39)	M494L	possibly damaging	Het
Foxj1	A	T	11: 116,223,080 (GRCm39)	L241Q	possibly damaging	Het
Gbp10	G	A	5: 105,384,015 (GRCm39)		probably benign	Het
Hnmt	T	A	2: 23,893,892 (GRCm39)	T201S	probably benign	Het
Jup	G	T	11: 100,269,177 (GRCm39)	T412K	possibly damaging	Het
Kcnh2	G	A	5: 24,527,057 (GRCm39)	S954F	probably damaging	Het
Klhdc7b	A	C	15: 89,272,847 (GRCm39)	K585T	possibly damaging	Het
Klk7	T	A	7: 43,461,424 (GRCm39)	S14T	probably benign	Het
Lama4	G	A	10: 38,923,944 (GRCm39)	E451K	probably damaging	Het
Ldhb	A	G	6: 142,441,399 (GRCm39)	C164R	probably damaging	Het
Malrd1	G	A	2: 15,614,901 (GRCm39)	D239N		Het
Mgam	T	A	6: 40,643,788 (GRCm39)	V572E	probably damaging	Het
Mrgprb2	G	T	7: 48,201,890 (GRCm39)	N278K	probably damaging	Het
Msto1	A	G	3: 88,819,130 (GRCm39)	Y206H	probably damaging	Het
Myo6	A	G	9: 80,169,573 (GRCm39)	S467G	unknown	Het
Mysm1	T	A	4: 94,849,964 (GRCm39)	I447L	probably benign	Het
Nav3	T	C	10: 109,688,795 (GRCm39)	E494G	possibly damaging	Het
Nol10	T	G	12: 17,452,174 (GRCm39)	V376G	probably damaging	Het
Nup205	T	A	6: 35,191,611 (GRCm39)	I1032N	probably damaging	Het
Oog2	A	G	4: 143,921,851 (GRCm39)	K254E	probably benign	Het
Or10ac1	A	G	6: 42,515,662 (GRCm39)	F98S	possibly damaging	Het
Or52z12	A	T	7: 103,233,588 (GRCm39)	I120L	possibly damaging	Het
Or5b98	A	G	19: 12,931,811 (GRCm39)	N286S	probably damaging	Het
Or5d41	A	T	2: 88,055,366 (GRCm39)	Y3*	probably null	Het
Or5g25	T	A	2: 85,477,768 (GRCm39)	D299V	possibly damaging	Het
Or5g27	A	G	2: 85,409,640 (GRCm39)	D19G	probably benign	Het
Or6b1	T	G	6: 42,815,680 (GRCm39)	Y288*	probably null	Het
Or6c6	A	T	10: 129,186,426 (GRCm39)		probably benign	Het
Or8h10	G	A	2: 86,808,501 (GRCm39)	T213I	probably benign	Het
Osbpl11	T	A	16: 33,056,649 (GRCm39)	D694E	probably benign	Het
Pcm1	T	A	8: 41,746,547 (GRCm39)	Y1210N	probably benign	Het
Pdxk	T	C	10: 78,276,697 (GRCm39)	M293V	probably benign	Het
Plcb3	T	C	19: 6,940,235 (GRCm39)	I451V	probably benign	Het
Plekhm2	A	G	4: 141,361,687 (GRCm39)	F272S	probably damaging	Het
Pramel32	C	A	4: 88,546,202 (GRCm39)	R380L	probably benign	Het
Ptgdr	A	T	14: 45,095,689 (GRCm39)		probably null	Het
Ptprf	C	T	4: 118,083,720 (GRCm39)	V788I	probably benign	Het
Ralbp1	C	T	17: 66,161,143 (GRCm39)	V467I	probably benign	Het
Ralgds	A	C	2: 28,433,667 (GRCm39)	Q229P	possibly damaging	Het
Recql	T	C	6: 142,320,610 (GRCm39)	D146G	probably damaging	Het
Reln	T	C	5: 22,256,365 (GRCm39)	N493S	probably damaging	Het
Rfxank	C	T	8: 70,587,936 (GRCm39)		probably null	Het
Scn5a	A	T	9: 119,315,596 (GRCm39)	M1704K	probably damaging	Het
Slc7a7	G	T	14: 54,611,725 (GRCm39)	A316E	possibly damaging	Het
Slco1a6	A	T	6: 142,036,794 (GRCm39)	C538S	probably benign	Het
Stard6	T	C	18: 70,631,718 (GRCm39)		probably null	Het
Strip2	T	A	6: 29,927,612 (GRCm39)	M219K	possibly damaging	Het
Tcam1	T	C	11: 106,174,911 (GRCm39)	V122A	probably damaging	Het
Tha1	A	G	11: 117,760,516 (GRCm39)	V236A	possibly damaging	Het
Tmem201	A	T	4: 149,815,554 (GRCm39)	I132N	possibly damaging	Het
Tnc	T	C	4: 63,938,894 (GRCm39)		probably benign	Het
Vmn1r42	T	C	6: 89,822,495 (GRCm39)	T25A	probably benign	Het
Vmn2r94	T	A	17: 18,464,765 (GRCm39)		probably null	Het
Wdfy4	A	C	14: 32,790,863 (GRCm39)	V2188G		Het
Zfp623	T	C	15: 75,819,247 (GRCm39)	S68P	probably damaging	Het
Zfp950	A	T	19: 61,107,593 (GRCm39)	C497S	probably damaging	Het
Zkscan2	C	T	7: 123,079,327 (GRCm39)	E877K	probably damaging	Het
Zp3r	C	A	1: 130,504,790 (GRCm39)	V536L	probably 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
R5913:Bhlhe40	UTSW	6	108,642,154 (GRCm39)	missense	possibly damaging	0.79
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
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'- ACCTGAAATCTTCCCAGCTCG -3'
(R):5'- GGAACCCATCAGATCACTGC -3'

Sequencing Primer
(F):5'- TGCTTCCAGGAAACCATTGG -3'
(R):5'- TCAGATCACTGCCCGCGAAG -3'

Posted On

2019-09-13