Mutagenetix > Incidental Mutation

Incidental Mutation 'R0360:Bhlhe40'

30041

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

038566-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0360 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

108637590-108643886 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 108641711 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 218 (N218K)

Ref Sequence

ENSEMBL: ENSMUSP00000032194 (fasta)

Gene Model

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

AlphaFold

O35185

Predicted Effect

probably damaging
Transcript: ENSMUST00000032194
AA Change: N218K

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000032194
Gene: ENSMUSG00000030103
AA Change: N218K

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

0.1095

Coding Region Coverage

1x: 99.2%
3x: 98.3%
10x: 96.2%
20x: 92.6%

Validation Efficiency

98% (93/95)

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: 95 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acp7	G	A	7: 28,310,553 (GRCm39)		probably benign	Het
Adcyap1r1	G	T	6: 55,452,508 (GRCm39)		probably benign	Het
Ankrd6	T	C	4: 32,836,424 (GRCm39)	T44A	probably damaging	Het
Ano7	A	G	1: 93,316,380 (GRCm39)	D221G	probably benign	Het
Bms1	A	G	6: 118,382,251 (GRCm39)	V429A	probably benign	Het
C7	T	A	15: 5,018,444 (GRCm39)	T800S	probably benign	Het
Camta2	G	A	11: 70,574,136 (GRCm39)	T127I	probably damaging	Het
Ccdc13	T	A	9: 121,627,282 (GRCm39)	N665I	probably damaging	Het
Ccdc157	T	C	11: 4,096,663 (GRCm39)	E362G	probably damaging	Het
Ccdc73	T	A	2: 104,811,352 (GRCm39)	N310K	probably damaging	Het
Cfap91	T	A	16: 38,118,659 (GRCm39)		probably null	Het
Cmklr1	A	T	5: 113,752,578 (GRCm39)	L141H	probably damaging	Het
Cnst	C	A	1: 179,407,100 (GRCm39)	A49E	probably benign	Het
Col5a3	C	T	9: 20,683,762 (GRCm39)	R1498Q	unknown	Het
Crybb3	T	A	5: 113,223,819 (GRCm39)	I197F	probably damaging	Het
Cryzl1	G	A	16: 91,504,155 (GRCm39)	P97S	probably benign	Het
Cubn	T	C	2: 13,315,318 (GRCm39)		probably benign	Het
Cyp2d37-ps	T	C	15: 82,574,253 (GRCm39)		noncoding transcript	Het
Cyp4a12b	C	A	4: 115,290,117 (GRCm39)	N223K	probably benign	Het
D16Ertd472e	A	T	16: 78,344,773 (GRCm39)	C112S	probably benign	Het
Dennd2a	T	C	6: 39,485,233 (GRCm39)	T349A	probably benign	Het
Dock5	G	A	14: 68,060,129 (GRCm39)		probably benign	Het
Dpp6	T	C	5: 27,857,267 (GRCm39)	L404P	probably damaging	Het
Dsc3	T	A	18: 20,104,639 (GRCm39)	T563S	possibly damaging	Het
Dync2h1	T	A	9: 7,113,182 (GRCm39)	E214D	possibly damaging	Het
Elac2	A	G	11: 64,870,136 (GRCm39)	Y67C	probably damaging	Het
Elmo1	A	T	13: 20,748,663 (GRCm39)	K503*	probably null	Het
Eng	T	C	2: 32,569,149 (GRCm39)	S559P	probably benign	Het
Epc2	T	A	2: 49,427,145 (GRCm39)	V563E	possibly damaging	Het
Fancm	A	G	12: 65,122,724 (GRCm39)	Y82C	probably damaging	Het
Flt4	A	T	11: 49,527,818 (GRCm39)	M924L	probably benign	Het
Gabpa	T	A	16: 84,654,275 (GRCm39)	N317K	possibly damaging	Het
Gchfr	T	G	2: 118,998,327 (GRCm39)	Y3*	probably null	Het
Gli3	G	T	13: 15,899,349 (GRCm39)	G912V	probably benign	Het
Gm10295	C	A	7: 71,000,361 (GRCm39)	C73F	unknown	Het
Gm10382	G	T	5: 125,466,728 (GRCm39)		probably benign	Het
Gp1ba	T	C	11: 70,531,284 (GRCm39)		probably benign	Het
Gpr146	G	A	5: 139,364,933 (GRCm39)		probably benign	Het
Hexd	T	A	11: 121,102,969 (GRCm39)	H62Q	probably benign	Het
Hgd	T	A	16: 37,431,546 (GRCm39)		probably benign	Het
Hs6st1	G	A	1: 36,108,266 (GRCm39)		probably null	Het
Icam4	A	G	9: 20,941,117 (GRCm39)	Y123C	probably damaging	Het
Il24	A	G	1: 130,811,674 (GRCm39)	V134A	probably damaging	Het
Iqcb1	G	T	16: 36,692,670 (GRCm39)	A562S	probably damaging	Het
Iqgap2	A	C	13: 95,867,783 (GRCm39)		probably benign	Het
Islr2	T	C	9: 58,107,027 (GRCm39)	T78A	possibly damaging	Het
Kif1b	A	G	4: 149,347,186 (GRCm39)	I330T	probably damaging	Het
Kirrel1	T	C	3: 86,997,106 (GRCm39)	Y287C	probably damaging	Het
Klf10	C	T	15: 38,297,090 (GRCm39)	V317M	probably benign	Het
Klhl9	T	G	4: 88,638,527 (GRCm39)	K571N	probably benign	Het
Lin37	T	C	7: 30,256,438 (GRCm39)	I97V	possibly damaging	Het
Lrrc37a	C	T	11: 103,391,466 (GRCm39)	V1320I	possibly damaging	Het
Lrrc74a	A	G	12: 86,784,569 (GRCm39)	H99R	probably damaging	Het
Me3	T	A	7: 89,435,622 (GRCm39)		probably null	Het
Med13	T	C	11: 86,219,987 (GRCm39)		probably benign	Het
Myh6	A	T	14: 55,185,804 (GRCm39)	Y1490*	probably null	Het
Myo10	T	C	15: 25,804,454 (GRCm39)	L1583P	probably damaging	Het
Nkx6-3	A	G	8: 23,647,722 (GRCm39)	E227G	possibly damaging	Het
Nlrp1a	T	A	11: 71,004,830 (GRCm39)		probably benign	Het
Nlrp5-ps	A	C	7: 14,317,016 (GRCm39)		noncoding transcript	Het
Nup188	T	G	2: 30,216,491 (GRCm39)	I765S	probably null	Het
Obscn	G	A	11: 59,019,107 (GRCm39)	A969V	probably benign	Het
Or11a4	T	C	17: 37,536,934 (GRCm39)	L306P	possibly damaging	Het
Or1j19	T	A	2: 36,677,452 (GRCm39)	M305K	probably benign	Het
Or5a1	G	T	19: 12,097,217 (GRCm39)	D286E	possibly damaging	Het
Or8k33	A	T	2: 86,384,123 (GRCm39)	L115Q	probably damaging	Het
Otogl	T	A	10: 107,606,511 (GRCm39)		probably benign	Het
Pcnx3	G	A	19: 5,715,611 (GRCm39)	R1472W	probably damaging	Het
Plekha5	G	A	6: 140,537,473 (GRCm39)	R646K	possibly damaging	Het
Plscr4	T	A	9: 92,370,814 (GRCm39)		probably benign	Het
Pon2	G	A	6: 5,266,156 (GRCm39)	Q288*	probably null	Het
Ptpn13	C	A	5: 103,681,214 (GRCm39)	R805S	probably damaging	Het
Pyroxd2	A	T	19: 42,735,992 (GRCm39)	V62D	probably damaging	Het
Rab37	G	T	11: 115,047,790 (GRCm39)	C44F	probably damaging	Het
Rbm44	T	C	1: 91,080,069 (GRCm39)	S52P	probably benign	Het
Rgl3	A	G	9: 21,888,153 (GRCm39)	W454R	probably damaging	Het
Rita1	A	G	5: 120,747,837 (GRCm39)	S154P	probably benign	Het
Scn5a	T	C	9: 119,351,665 (GRCm39)	D772G	probably damaging	Het
Sec23ip	G	A	7: 128,363,129 (GRCm39)		probably benign	Het
Skic8	A	T	9: 54,634,862 (GRCm39)		probably benign	Het
Slc23a1	T	A	18: 35,756,032 (GRCm39)		probably benign	Het
Slco1a8	A	C	6: 141,928,053 (GRCm39)		probably benign	Het
Sparcl1	T	A	5: 104,237,503 (GRCm39)	D444V	probably damaging	Het
Taar6	C	A	10: 23,861,046 (GRCm39)	V167L	probably benign	Het
Tmcc3	T	A	10: 94,414,407 (GRCm39)	N36K	probably benign	Het
Tmem200c	T	A	17: 69,147,543 (GRCm39)	V42E	probably damaging	Het
Trhde	T	C	10: 114,338,887 (GRCm39)		probably benign	Het
Tshz3	A	G	7: 36,469,958 (GRCm39)	E649G	probably benign	Het
Utp4	T	C	8: 107,625,169 (GRCm39)		probably benign	Het
Vmn1r30	A	G	6: 58,412,262 (GRCm39)	V190A	probably benign	Het
Vmn1r35	A	G	6: 66,655,827 (GRCm39)	I281T	probably damaging	Het
Vmn1r58	G	T	7: 5,413,329 (GRCm39)	H300Q	probably benign	Het
Vmn1r84	A	G	7: 12,095,799 (GRCm39)	L286P	probably damaging	Het
Vmn2r54	A	T	7: 12,349,576 (GRCm39)	C669S	probably damaging	Het
Zfp623	T	C	15: 75,820,510 (GRCm39)	S489P	probably benign	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
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
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'- ACCTGGCGAAGCATGAGAACAC -3'
(R):5'- AAGTGGCCTTCCTCTTCTGAGAGC -3'

Sequencing Primer
(F):5'- ACTCGGGACCTGAAATCTTC -3'
(R):5'- GCTTAATTGTGCTGACACGTTC -3'

Posted On

2013-04-24