Mutagenetix > Incidental Mutation

Incidental Mutation 'R7726:Bhlhe40'

595491

Institutional Source

Beutler Lab

Gene Symbol

Bhlhe40

Ensembl Gene

ENSMUSG00000030103

Gene Name

basic helix-loop-helix family, member e40

Synonyms

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

MMRRC Submission

Accession Numbers

Genbank: NM_011498; MGI: 1097714

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7726 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

108660629-108666925 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 108662598 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 112 (D112E)

Ref Sequence

ENSEMBL: ENSMUSP00000032194 (fasta)

Gene Model

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

AlphaFold

O35185

Predicted Effect

probably benign
Transcript: ENSMUST00000032194
AA Change: D112E

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000032194
Gene: ENSMUSG00000030103
AA Change: D112E

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

probably benign
Transcript: ENSMUST00000163617
AA Change: D112E

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000132157
Gene: ENSMUSG00000030103
AA Change: D112E

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.8%

Validation Efficiency

100% (65/65)

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: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4931408C20Rik	C	A	1: 26,684,498	A534S	probably benign	Het
A230050P20Rik	T	C	9: 20,873,165	Y182H	possibly damaging	Het
Adam34	T	G	8: 43,651,171	N479T	probably damaging	Het
Add3	C	G	19: 53,239,461	L526V	probably damaging	Het
Alas1	T	C	9: 106,246,951	T3A	probably benign	Het
Arap3	C	T	18: 37,989,467	D579N	probably damaging	Het
Armc6	C	A	8: 70,222,598	D326Y	probably damaging	Het
Atp6v1e2	G	A	17: 86,944,385	T195I	probably damaging	Het
Atrnl1	A	G	19: 57,702,072	E904G	probably damaging	Het
Brf1	T	G	12: 112,964,245	K438T	probably benign	Het
Cabs1	A	T	5: 87,980,286	E265D	probably damaging	Het
Ccdc162	T	A	10: 41,553,075	M1937L	probably benign	Het
Cd55b	A	T	1: 130,411,493	S299R	possibly damaging	Het
Chordc1	A	G	9: 18,302,214	*120W	probably null	Het
Col17a1	C	A	19: 47,655,190		probably null	Het
Cpne8	A	T	15: 90,501,418	I469K	possibly damaging	Het
Crtac1	G	T	19: 42,302,251	S337*	probably null	Het
Cx3cl1	T	C	8: 94,780,239	S291P	probably damaging	Het
Dhx36	G	T	3: 62,488,968	Q423K	probably benign	Het
Eif3h	G	T	15: 51,786,823	Q322K	possibly damaging	Het
Ero1lb	A	G	13: 12,605,833	*494W	probably null	Het
Exph5	G	A	9: 53,373,175	V519I	possibly damaging	Het
Fam184a	C	A	10: 53,633,706	E126*	probably null	Het
Fam208a	C	A	14: 27,447,497	N338K	probably damaging	Het
Fam222b	A	G	11: 78,153,751	D46G	probably damaging	Het
Fbxl6	C	A	15: 76,535,886	R509L	probably damaging	Het
Fgf14	T	C	14: 124,136,244	Y86C	probably damaging	Het
Fras1	A	T	5: 96,712,451	I2119F	probably benign	Het
Gm14085	A	G	2: 122,486,733	E25G	probably damaging	Het
Gpr37	G	A	6: 25,669,117	T576I	possibly damaging	Het
Hnrnpul2	G	T	19: 8,831,280	R702L	possibly damaging	Het
Iqgap1	T	C	7: 80,757,456	N342S	probably benign	Het
Kcnh6	T	C	11: 106,017,575	V339A	probably benign	Het
Klk1b9	A	T	7: 43,978,416	N46I	possibly damaging	Het
Kndc1	C	A	7: 139,939,838	S1703R	possibly damaging	Het
Lyn	C	A	4: 3,756,428	Y306*	probably null	Het
Manba	C	T	3: 135,518,009	T219M	probably benign	Het
Mastl	T	C	2: 23,140,795		probably null	Het
Med15	T	G	16: 17,655,174	M550L	possibly damaging	Het
Men1	G	A	19: 6,337,282		probably null	Het
Mettl11b	A	G	1: 163,703,184	C229R	probably benign	Het
Msh4	C	T	3: 153,866,320		probably null	Het
Myh6	G	T	14: 54,965,365	D32E	probably damaging	Het
Ntn4	A	G	10: 93,733,682	D419G	possibly damaging	Het
Nup155	C	T	15: 8,122,139	P393S	probably damaging	Het
Olfr1389	T	A	11: 49,430,900	C141*	probably null	Het
Olfr1415	A	T	1: 92,491,307	F149L	probably benign	Het
Palm2	C	T	4: 57,709,876	P274S	probably damaging	Het
Papss2	A	T	19: 32,634,003		probably null	Het
Pcdhgc3	T	C	18: 37,806,879	V111A	possibly damaging	Het
Pcnx2	C	T	8: 125,850,330	V988I	probably benign	Het
Pom121	C	T	5: 135,378,148	G1178S	probably damaging	Het
Prss33	A	G	17: 23,834,229	C213R	probably damaging	Het
Scap	G	A	9: 110,378,367		probably null	Het
Sirpb1c	T	A	3: 15,848,386	I10F	possibly damaging	Het
Spink5	T	C	18: 43,963,352	L16P	probably damaging	Het
Stk4	T	G	2: 164,110,226	M1R	probably null	Het
Stub1	A	T	17: 25,831,132	Y253*	probably null	Het
Tbce	A	G	13: 14,029,290	V29A	probably damaging	Het
Tchhl1	A	G	3: 93,471,758	R590G	probably benign	Het
Tmem173	C	T	18: 35,735,265	A261T	probably damaging	Het
Ubr4	C	T	4: 139,458,920	P613L	unknown	Het
Vmn2r3	G	T	3: 64,275,518	C253*	probably null	Het
Wfdc8	C	A	2: 164,599,986	E215D	possibly damaging	Het
Zfp874b	T	C	13: 67,473,856	D441G	probably benign	Het
Zscan4d	G	T	7: 11,165,242	P36Q	possibly damaging	Het

Other mutations in Bhlhe40

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00495:Bhlhe40	APN	6	108661178	missense	probably benign	0.25
IGL01146:Bhlhe40	APN	6	108664940	missense	possibly damaging	0.60
IGL02950:Bhlhe40	APN	6	108664542	missense	probably damaging	1.00
teedoff	UTSW	6	108664857	frame shift	probably null
R0360:Bhlhe40	UTSW	6	108664750	missense	probably damaging	1.00
R1486:Bhlhe40	UTSW	6	108664929	missense	probably damaging	1.00
R5041:Bhlhe40	UTSW	6	108662585	missense	probably damaging	0.99
R5179:Bhlhe40	UTSW	6	108665208	missense	possibly damaging	0.55
R5913:Bhlhe40	UTSW	6	108665193	missense	possibly damaging	0.79
R6281:Bhlhe40	UTSW	6	108664462	splice site	probably null
R6283:Bhlhe40	UTSW	6	108665031	missense	probably damaging	1.00
R6405:Bhlhe40	UTSW	6	108664857	frame shift	probably null
R6406:Bhlhe40	UTSW	6	108664857	frame shift	probably null
R6595:Bhlhe40	UTSW	6	108664857	frame shift	probably null
R6654:Bhlhe40	UTSW	6	108664857	frame shift	probably null
R6656:Bhlhe40	UTSW	6	108664857	frame shift	probably null
R6657:Bhlhe40	UTSW	6	108664857	frame shift	probably null
R6659:Bhlhe40	UTSW	6	108664857	frame shift	probably null
R6734:Bhlhe40	UTSW	6	108664857	frame shift	probably null
R6968:Bhlhe40	UTSW	6	108664857	frame shift	probably null
R7105:Bhlhe40	UTSW	6	108665036	missense	possibly damaging	0.96
R7323:Bhlhe40	UTSW	6	108665281	missense	probably benign	0.42
R7395:Bhlhe40	UTSW	6	108664857	frame shift	probably null
R7399:Bhlhe40	UTSW	6	108664857	frame shift	probably null
R7472:Bhlhe40	UTSW	6	108664857	frame shift	probably null
R7563:Bhlhe40	UTSW	6	108664857	frame shift	probably null
R8058:Bhlhe40	UTSW	6	108664857	frame shift	probably null
R8319:Bhlhe40	UTSW	6	108664857	frame shift	probably null
R8320:Bhlhe40	UTSW	6	108664857	frame shift	probably null
R8380:Bhlhe40	UTSW	6	108664857	frame shift	probably null
R8381:Bhlhe40	UTSW	6	108664857	frame shift	probably null
R8428:Bhlhe40	UTSW	6	108664857	frame shift	probably null
R8431:Bhlhe40	UTSW	6	108664857	frame shift	probably null
R8432:Bhlhe40	UTSW	6	108664857	frame shift	probably null
R8988:Bhlhe40	UTSW	6	108662557	missense	probably damaging	1.00
R9381:Bhlhe40	UTSW	6	108665283	missense	probably damaging	1.00
R9582:Bhlhe40	UTSW	6	108661506	missense	probably benign	0.04

Predicted Primers

PCR Primer
(F):5'- GTTGTTGACACCCAATTCTCCTAAC -3'
(R):5'- GCACAGCAGCATTCCGTATG -3'

Sequencing Primer
(F):5'- TCTCCTAACAGATAGTGTCAGAAGG -3'
(R):5'- AGATTGGCACTGAGCTCT -3'

Posted On

2019-11-12