Mutagenetix > Incidental Mutation

Incidental Mutation 'R5766:Mnt'

446290

Institutional Source

Beutler Lab

Gene Symbol

Mnt

Ensembl Gene

ENSMUSG00000000282

Gene Name

max binding protein

Synonyms

bHLHd3, Rox

MMRRC Submission

044424-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.946) question?

Stock #

R5766 (G1)

Quality Score

159

Status

Not validated

Chromosome

Chromosomal Location

74721746-74736551 bp(+) (GRCm39)

Type of Mutation

intron

DNA Base Change (assembly)

C to T at 74733904 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000118435 (fasta)

Gene Model

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

AlphaFold

O08789

Predicted Effect

unknown
Transcript: ENSMUST00000000291
AA Change: P512S

SMART Domains

Protein: ENSMUSP00000000291
Gene: ENSMUSG00000000282
AA Change: P512S

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 benign
Transcript: ENSMUST00000132150

SMART Domains

Protein: ENSMUSP00000118435
Gene: ENSMUSG00000000282

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

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.3%
20x: 95.5%

Validation Efficiency

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: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadacl3	A	G	4: 144,182,439 (GRCm39)	V343A	probably damaging	Het
AI429214	TCCCTGATGAAC	TC	8: 37,461,383 (GRCm39)		probably null	Het
Arid2	A	G	15: 96,270,086 (GRCm39)	T1400A	probably benign	Het
Arrdc1	G	A	2: 24,816,417 (GRCm39)	T184I	probably damaging	Het
Aspm	T	C	1: 139,406,740 (GRCm39)	F1876L	probably damaging	Het
Calhm1	C	T	19: 47,132,142 (GRCm39)	V158I	probably benign	Het
Caly	T	C	7: 139,650,310 (GRCm39)	K211E	probably benign	Het
Cenpe	T	C	3: 134,954,174 (GRCm39)	L1677P	probably damaging	Het
Cttnbp2	A	G	6: 18,381,032 (GRCm39)	V1388A	possibly damaging	Het
Dgkd	C	T	1: 87,808,171 (GRCm39)	R80*	probably null	Het
Dnah3	A	T	7: 119,577,445 (GRCm39)	I2072N	probably damaging	Het
Dnah8	A	G	17: 30,909,235 (GRCm39)	I1020M	probably benign	Het
Drc3	T	C	11: 60,284,647 (GRCm39)	V484A	probably benign	Het
Efcab8	A	G	2: 153,622,912 (GRCm39)	D27G	possibly damaging	Het
Fat4	G	A	3: 38,943,617 (GRCm39)	G837R	probably damaging	Het
Fcgbpl1	G	A	7: 27,836,754 (GRCm39)	W224*	probably null	Het
Fgb	A	T	3: 82,953,483 (GRCm39)	C96S	probably damaging	Het
Flt4	G	C	11: 49,517,513 (GRCm39)	W278C	possibly damaging	Het
Fmnl2	T	C	2: 52,991,466 (GRCm39)	V327A	probably damaging	Het
Fras1	A	T	5: 96,879,548 (GRCm39)	Y2455F	possibly damaging	Het
Gm10549	C	A	18: 33,597,358 (GRCm39)		probably benign	Het
Gm13872	T	A	2: 102,568,254 (GRCm39)	I88N	probably damaging	Het
Hoxa6	A	G	6: 52,185,394 (GRCm39)	S71P	probably benign	Het
Hunk	T	A	16: 90,250,627 (GRCm39)	C148S	probably damaging	Het
Ighv1-18	A	C	12: 114,646,527 (GRCm39)	S26A	probably damaging	Het
Impg2	T	G	16: 56,080,183 (GRCm39)	D553E	possibly damaging	Het
Ints1	A	G	5: 139,757,900 (GRCm39)	I266T	probably benign	Het
Kpna3	G	T	14: 61,640,463 (GRCm39)	T33K	probably benign	Het
Lamb1	A	G	12: 31,349,930 (GRCm39)	D622G	probably damaging	Het
Lamp3	T	C	16: 19,520,067 (GRCm39)	T39A	probably damaging	Het
Msh4	A	G	3: 153,573,477 (GRCm39)	S726P	probably damaging	Het
Or13a25	T	A	7: 140,247,266 (GRCm39)	V22E	probably benign	Het
Pah	A	C	10: 87,403,209 (GRCm39)	K195Q	probably damaging	Het
Pdc	T	A	1: 150,209,251 (GRCm39)	*245K	probably null	Het
Pdzd8	A	T	19: 59,288,972 (GRCm39)	H809Q	possibly damaging	Het
Plekhd1	A	T	12: 80,769,140 (GRCm39)	I467L	probably benign	Het
Ppp2ca	A	G	11: 52,004,014 (GRCm39)	D57G	probably damaging	Het
Ralgapa1	A	T	12: 55,867,551 (GRCm39)	M1K	probably null	Het
Rfx2	T	A	17: 57,110,587 (GRCm39)	D133V	probably benign	Het
Scfd2	A	T	5: 74,623,312 (GRCm39)	L407Q	probably damaging	Het
Scp2d1	T	A	2: 144,665,957 (GRCm39)	S99T	possibly damaging	Het
Sec63	A	T	10: 42,677,677 (GRCm39)	N261I	probably damaging	Het
Slc8a1	T	C	17: 81,956,390 (GRCm39)	Y216C	probably damaging	Het
Son	T	A	16: 91,461,875 (GRCm39)		probably benign	Het
Syce1	T	C	7: 140,357,894 (GRCm39)	E285G	probably damaging	Het
Taar7a	G	T	10: 23,869,260 (GRCm39)	S40R	probably benign	Het
Ube3a	A	T	7: 58,925,807 (GRCm39)	D216V	possibly damaging	Het
Vgll2	A	G	10: 51,903,659 (GRCm39)	D174G	probably damaging	Het
Vmn2r17	A	T	5: 109,575,139 (GRCm39)	T149S	possibly damaging	Het
Zbtb39	G	T	10: 127,578,557 (GRCm39)	C377F	probably damaging	Het
Zfp820	T	A	17: 22,038,983 (GRCm39)	N115I	probably damaging	Het
Zfp948	T	C	17: 21,805,078 (GRCm39)	S23P	probably benign	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
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
R7970:Mnt	UTSW	11	74,733,036 (GRCm39)	missense	probably damaging	1.00
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'- TCCAGACTGTGAACCATGTTC -3'
(R):5'- TGAGTGTGCTGACCGGAAAG -3'

Sequencing Primer
(F):5'- CAGACTGTGAACCATGTTCTGCAG -3'
(R):5'- CCATAGTCACAGGGTTGAGCAC -3'

Posted On

2016-11-21