Mutagenetix > Incidental Mutation

Incidental Mutation 'R6340:Mnt'

513891

Institutional Source

Beutler Lab

Gene Symbol

Mnt

Ensembl Gene

ENSMUSG00000000282

Gene Name

max binding protein

Synonyms

bHLHd3, Rox

MMRRC Submission

044494-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.941) question?

Stock #

R6340 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

74721746-74736551 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 74727242 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Glutamic Acid at position 43 (K43E)

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: K43E

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000000291
Gene: ENSMUSG00000000282
AA Change: K43E

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000133217

Meta Mutation Damage Score

0.0662

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 97.9%
20x: 93.7%

Validation Efficiency

98% (41/42)

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: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Arhgef4	C	T	1: 34,771,304 (GRCm39)	L1204F	probably damaging	Het
Atp9b	T	C	18: 80,822,115 (GRCm39)	D495G	probably benign	Het
B020011L13Rik	G	A	1: 117,729,614 (GRCm39)	V374I	probably benign	Het
Babam1	T	A	8: 71,855,449 (GRCm39)	V214D	probably damaging	Het
Chpf2	T	C	5: 24,796,773 (GRCm39)	V573A	probably damaging	Het
Elmo3	T	A	8: 106,033,379 (GRCm39)	I115N	probably damaging	Het
Emc1	T	A	4: 139,092,874 (GRCm39)	Y564N	probably damaging	Het
Fam180a	A	C	6: 35,292,322 (GRCm39)	L28R	probably damaging	Het
Fiz1	C	T	7: 5,011,400 (GRCm39)	A373T	possibly damaging	Het
Fnip2	A	G	3: 79,415,152 (GRCm39)	F243L	probably damaging	Het
Gabra5	A	T	7: 57,063,496 (GRCm39)	N309K	probably damaging	Het
Gm17654	A	G	14: 43,815,534 (GRCm39)	L91P	unknown	Het
Gm19684	G	A	17: 36,438,402 (GRCm39)		probably null	Het
Gm9376	A	T	14: 118,504,669 (GRCm39)	M34L	unknown	Het
Hmgcr	A	G	13: 96,802,366 (GRCm39)	F106S	probably damaging	Het
Hydin	T	G	8: 111,081,574 (GRCm39)		probably null	Het
Igf2bp3	A	G	6: 49,191,393 (GRCm39)	Y5H	probably damaging	Het
Igsf11	A	G	16: 38,829,336 (GRCm39)	T77A	probably benign	Het
Il20	A	G	1: 130,836,118 (GRCm39)	Y142H	probably benign	Het
Macf1	A	T	4: 123,342,042 (GRCm39)	D2160E	probably benign	Het
Melk	A	G	4: 44,340,633 (GRCm39)	Y310C	probably damaging	Het
Mep1a	C	T	17: 43,789,949 (GRCm39)	V454M	probably benign	Het
Mep1a	A	T	17: 43,790,124 (GRCm39)	N395K	probably benign	Het
Nrap	A	G	19: 56,335,616 (GRCm39)	I853T	probably damaging	Het
Ogfrl1	T	G	1: 23,408,944 (GRCm39)	K427N	probably benign	Het
Or1j13	T	C	2: 36,370,032 (GRCm39)	T37A	probably benign	Het
Or8d1b	T	G	9: 38,887,062 (GRCm39)	L30R	probably damaging	Het
Pdia4	A	G	6: 47,777,952 (GRCm39)	S347P	probably benign	Het
Pkd1l1	T	G	11: 8,794,649 (GRCm39)	Q1837H	probably benign	Het
Pramel11	T	C	4: 143,623,877 (GRCm39)	N99S	possibly damaging	Het
Pygo1	T	A	9: 72,852,711 (GRCm39)	N299K	probably damaging	Het
Sirpb1b	A	T	3: 15,613,725 (GRCm39)	V52E	probably damaging	Het
Tdrd7	T	A	4: 45,994,517 (GRCm39)	I305N	probably damaging	Het
Trav14-1	T	C	14: 53,791,955 (GRCm39)	S102P	probably damaging	Het
Tsga10	C	A	1: 37,874,266 (GRCm39)		probably benign	Het
Uso1	T	A	5: 92,347,711 (GRCm39)	H837Q	probably benign	Het
Vmn2r82	A	T	10: 79,231,727 (GRCm39)	R575S	probably benign	Het
Yae1d1	C	A	13: 18,167,861 (GRCm39)	A11S	probably benign	Het
Zfp277	A	G	12: 40,368,548 (GRCm39)	I459T	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
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'- TATCTGGTGTCTCAGGCTAGGC -3'
(R):5'- CTTAATGCTGAGTCCAGGGG -3'

Sequencing Primer
(F):5'- TGTCTCAGGCTAGGCAGAAC -3'
(R):5'- TGAGTCCAGGGGTGCTGAC -3'

Posted On

2018-04-27