Mutagenetix > Incidental Mutation

Incidental Mutation 'R7970:Mnt'

650569

Institutional Source

Beutler Lab

Gene Symbol

Mnt

Ensembl Gene

ENSMUSG00000000282

Gene Name

max binding protein

Synonyms

bHLHd3, Rox

MMRRC Submission

046013-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.946) question?

Stock #

R7970 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

74721746-74736551 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 74733036 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Valine at position 288 (A288V)

Ref Sequence

ENSEMBL: ENSMUSP00000000291 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000000291] [ENSMUST00000132150]

AlphaFold

O08789

Predicted Effect

probably damaging
Transcript: ENSMUST00000000291
AA Change: A288V

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000000291
Gene: ENSMUSG00000000282
AA Change: A288V

Domain	Start	End	E-Value	Type
coiled coil region	3	53	N/A	INTRINSIC
low complexity region	64	88	N/A	INTRINSIC
low complexity region	100	125	N/A	INTRINSIC
low complexity region	182	205	N/A	INTRINSIC
HLH	228	279	2.99e-13	SMART
low complexity region	368	431	N/A	INTRINSIC
low complexity region	469	481	N/A	INTRINSIC
low complexity region	515	527	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000132150
AA Change: A56V

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000118435
Gene: ENSMUSG00000000282
AA Change: A56V

Domain	Start	End	E-Value	Type
HLH	1	47	2.92e-7	SMART

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

Validation Efficiency

100% (57/57)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The Myc/Max/Mad network comprises a group of transcription factors that co-interact to regulate gene-specific transcriptional activation or repression. This gene encodes a protein member of the Myc/Max/Mad network. This protein has a basic-Helix-Loop-Helix-zipper domain (bHLHzip) with which it binds the canonical DNA sequence CANNTG, known as the E box, following heterodimerization with Max proteins. This protein is likely a transcriptional repressor and an antagonist of Myc-dependent transcriptional activation and cell growth. This protein represses transcription by binding to DNA binding proteins at its N-terminal Sin3-interaction domain. [provided by RefSeq, Jul 2008]
PHENOTYPE: Most homozygotes for a targeted null mutation are runted at birth and die within a few days, while mutant fibroblasts show abnormal cell cycling. Those homozygotes that survive are fertile and attain normal Heterozygotes for a conditional mammary epithelial specific knockout develop adenocarcinomas. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acnat1	A	G	4: 49,449,266 (GRCm39)	F167L	probably damaging	Het
Acsbg2	A	G	17: 57,156,728 (GRCm39)	Y437H	probably benign	Het
Amotl2	C	T	9: 102,600,968 (GRCm39)	T345I	probably benign	Het
Anapc2	T	C	2: 25,163,299 (GRCm39)	S179P	possibly damaging	Het
Aopep	A	G	13: 63,180,974 (GRCm39)	N312S	probably benign	Het
Arhgef1	G	A	7: 24,616,306 (GRCm39)	D317N	probably damaging	Het
Arrdc4	G	A	7: 68,390,820 (GRCm39)	P307S	probably damaging	Het
B3gnt2	T	C	11: 22,786,255 (GRCm39)	Y311C	probably damaging	Het
Brf1	T	C	12: 112,927,820 (GRCm39)	D453G	probably damaging	Het
Clpsl2	G	A	17: 28,769,702 (GRCm39)	G55R	probably damaging	Het
Dao	AGG	AG	5: 114,153,270 (GRCm39)		probably benign	Het
Dst	G	T	1: 34,221,828 (GRCm39)	C2544F	possibly damaging	Het
Efhc1	C	T	1: 21,022,019 (GRCm39)	T21M	probably benign	Het
Efs	A	G	14: 55,157,960 (GRCm39)		probably null	Het
Elp1	A	T	4: 56,771,466 (GRCm39)	Y944N	probably damaging	Het
Evl	C	T	12: 108,647,783 (GRCm39)	R295*	probably null	Het
Fam171a2	A	T	11: 102,328,692 (GRCm39)	V689E	possibly damaging	Het
Fam184a	T	C	10: 53,575,421 (GRCm39)	T63A	probably damaging	Het
Fam186a	T	C	15: 99,831,467 (GRCm39)	D2897G	unknown	Het
Fbxw11	T	G	11: 32,672,101 (GRCm39)	S224A	probably benign	Het
Flnc	G	T	6: 29,447,525 (GRCm39)	E1109D	possibly damaging	Het
Foxn4	A	G	5: 114,401,068 (GRCm39)		probably null	Het
Gm19410	A	G	8: 36,282,801 (GRCm39)	E2009G	probably benign	Het
Gm9958	A	G	5: 90,515,568 (GRCm39)		probably benign	Het
Gprin3	C	T	6: 59,330,150 (GRCm39)	R719Q	possibly damaging	Het
Grip2	A	T	6: 91,763,513 (GRCm39)	I147N	probably benign	Het
H2-DMb2	A	G	17: 34,369,572 (GRCm39)	R239G	probably benign	Het
Hydin	A	C	8: 111,035,723 (GRCm39)	D138A	probably damaging	Het
Kctd17	CAGCTGGAGGAGC	CAGC	15: 78,321,113 (GRCm39)		probably benign	Het
Lgr6	A	G	1: 134,921,723 (GRCm39)	I484T	probably benign	Het
Mkrn2	T	A	6: 115,594,269 (GRCm39)	C327S	probably damaging	Het
Nckap5	T	A	1: 125,952,758 (GRCm39)	K1265*	probably null	Het
Ncoa3	A	T	2: 165,893,277 (GRCm39)	H194L	probably benign	Het
Ogn	A	T	13: 49,762,742 (GRCm39)	H28L	probably benign	Het
Or56a41	C	A	7: 104,740,556 (GRCm39)	V97L	probably benign	Het
Or5b101	T	A	19: 13,005,058 (GRCm39)	I212F	probably damaging	Het
Or9m1b	A	T	2: 87,836,169 (GRCm39)	F309I	probably benign	Het
Pclo	T	C	5: 14,764,492 (GRCm39)	S1037P		Het
Phlpp1	T	A	1: 106,101,015 (GRCm39)	Y428N	probably damaging	Het
Ptpre	A	G	7: 135,280,048 (GRCm39)	T591A	possibly damaging	Het
Rtn1	A	T	12: 72,355,648 (GRCm39)	D99E	probably benign	Het
Scn7a	A	T	2: 66,506,173 (GRCm39)	I1572N	probably damaging	Het
Sema3a	T	A	5: 13,649,375 (GRCm39)	M708K	possibly damaging	Het
Slc12a4	G	A	8: 106,678,237 (GRCm39)	R319W	possibly damaging	Het
Slc9a2	T	C	1: 40,765,374 (GRCm39)	Y255H	probably damaging	Het
Spock3	T	C	8: 63,798,749 (GRCm39)	F254L	probably damaging	Het
St6gal1	G	A	16: 23,176,585 (GRCm39)	A393T	probably benign	Het
St6galnac2	T	C	11: 116,581,169 (GRCm39)	D51G	probably benign	Het
Stard13	T	A	5: 150,986,726 (GRCm39)	K261N	possibly damaging	Het
Tlk1	T	C	2: 70,582,644 (GRCm39)	R162G	possibly damaging	Het
Tlr2	T	C	3: 83,745,201 (GRCm39)	D294G	probably benign	Het
Tnks	A	G	8: 35,323,080 (GRCm39)		probably null	Het
Trip4	A	G	9: 65,746,298 (GRCm39)	S533P	probably damaging	Het
Ttc3	T	A	16: 94,258,223 (GRCm39)	W1674R	probably damaging	Het
Tut4	G	A	4: 108,343,651 (GRCm39)	S221N	probably benign	Het
Vmn2r114	T	C	17: 23,530,186 (GRCm39)	N74D	probably benign	Het
Zdbf2	T	C	1: 63,343,330 (GRCm39)	Y570H	possibly damaging	Het

Other mutations in Mnt

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01304:Mnt	APN	11	74,733,011 (GRCm39)	missense	probably damaging	1.00
R0599:Mnt	UTSW	11	74,733,122 (GRCm39)	missense	probably benign	0.09
R2100:Mnt	UTSW	11	74,722,177 (GRCm39)	missense	probably damaging	1.00
R3076:Mnt	UTSW	11	74,733,936 (GRCm39)	intron	probably benign
R3077:Mnt	UTSW	11	74,733,936 (GRCm39)	intron	probably benign
R3078:Mnt	UTSW	11	74,733,936 (GRCm39)	intron	probably benign
R3605:Mnt	UTSW	11	74,727,746 (GRCm39)	missense	possibly damaging	0.89
R4601:Mnt	UTSW	11	74,727,285 (GRCm39)	missense	possibly damaging	0.76
R5766:Mnt	UTSW	11	74,733,904 (GRCm39)	intron	probably benign
R6340:Mnt	UTSW	11	74,727,242 (GRCm39)	missense	probably damaging	1.00
R6988:Mnt	UTSW	11	74,733,635 (GRCm39)	intron	probably benign
R7460:Mnt	UTSW	11	74,734,109 (GRCm39)	missense	unknown
R8145:Mnt	UTSW	11	74,733,799 (GRCm39)	missense	unknown
R8544:Mnt	UTSW	11	74,722,218 (GRCm39)	missense	probably damaging	0.97
R9088:Mnt	UTSW	11	74,733,880 (GRCm39)	missense	unknown
R9388:Mnt	UTSW	11	74,727,450 (GRCm39)	missense	probably benign	0.05
Z1176:Mnt	UTSW	11	74,727,501 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TCACTGCAGATTGTCCAGAG -3'
(R):5'- AGGTGGCCTCTTTTCTAGCAG -3'

Sequencing Primer
(F):5'- GGTGGCATATCAAGATATCCTGC -3'
(R):5'- GCCTCTTTTCTAGCAGGGAAGAAC -3'

Posted On

2020-09-15