Mutagenetix > Incidental Mutation

Incidental Mutation 'R3605:Mnt'

269060

Institutional Source

Beutler Lab

Gene Symbol

Mnt

Ensembl Gene

ENSMUSG00000000282

Gene Name

max binding protein

Synonyms

bHLHd3, Rox

MMRRC Submission

040670-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.941) question?

Stock #

R3605 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

74721746-74736551 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 74727746 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Threonine at position 211 (S211T)

Ref Sequence

ENSEMBL: ENSMUSP00000000291 (fasta)

Gene Model

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

AlphaFold

O08789

Predicted Effect

possibly damaging
Transcript: ENSMUST00000000291
AA Change: S211T

PolyPhen 2 Score 0.893 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000000291
Gene: ENSMUSG00000000282
AA Change: S211T

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

0.0823

Coding Region Coverage

1x: 99.3%
3x: 98.5%
10x: 96.8%
20x: 93.3%

Validation Efficiency

95% (40/42)

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
Ankrd35	C	T	3: 96,589,497 (GRCm39)	Q239*	probably null	Het
Arid4b	T	C	13: 14,294,826 (GRCm39)	V36A	probably damaging	Het
Art2b	T	A	7: 101,229,152 (GRCm39)	N249I	probably benign	Het
Bpifb1	T	A	2: 154,053,485 (GRCm39)	N242K	possibly damaging	Het
Cd200r1	A	G	16: 44,609,939 (GRCm39)	T53A	possibly damaging	Het
Cracr2b	C	T	7: 141,046,059 (GRCm39)	P370S	possibly damaging	Het
Crb1	T	A	1: 139,165,077 (GRCm39)	T1016S	probably damaging	Het
Esrrg	A	G	1: 187,943,299 (GRCm39)	H424R	possibly damaging	Het
Fgfrl1	C	A	5: 108,853,289 (GRCm39)	T213K	probably damaging	Het
Flrt3	T	A	2: 140,503,287 (GRCm39)	N114Y	probably damaging	Het
Fsip2	T	C	2: 82,815,253 (GRCm39)	V3662A	probably benign	Het
Gabra6	T	A	11: 42,205,777 (GRCm39)	I359F	probably benign	Het
Gal	A	G	19: 3,464,026 (GRCm39)		probably null	Het
Gm10801	G	C	2: 98,494,352 (GRCm39)	R143T	possibly damaging	Het
Gm5814	G	T	17: 47,721,430 (GRCm39)	R48L	probably damaging	Het
Hcn1	G	A	13: 118,111,788 (GRCm39)	G584D	unknown	Het
Iqgap1	T	C	7: 80,373,537 (GRCm39)	D1484G	probably benign	Het
Kmt2a	G	A	9: 44,760,493 (GRCm39)	T485M	probably damaging	Het
Kprp	C	A	3: 92,731,588 (GRCm39)	Q487H	unknown	Het
Lctl	T	C	9: 64,040,475 (GRCm39)	Y473H	probably damaging	Het
Lrrc8d	G	A	5: 105,974,873 (GRCm39)	C93Y	unknown	Het
Mtdh	T	A	15: 34,114,258 (GRCm39)		probably benign	Het
Nxt1	T	C	2: 148,517,399 (GRCm39)	W47R	probably damaging	Het
Or4f59	T	A	2: 111,873,168 (GRCm39)	I70F	probably benign	Het
Or5k3	T	C	16: 58,969,846 (GRCm39)	I211T	probably damaging	Het
Plekha7	T	C	7: 115,763,477 (GRCm39)	D313G	possibly damaging	Het
Ranbp10	A	G	8: 106,502,667 (GRCm39)	S300P	probably benign	Het
Rbl1	A	T	2: 157,019,153 (GRCm39)	F531I	probably damaging	Het
Rpap2	A	G	5: 107,768,395 (GRCm39)	D411G	probably damaging	Het
Sapcd1	A	G	17: 35,246,781 (GRCm39)	F36L	probably damaging	Het
Svep1	A	T	4: 58,066,542 (GRCm39)	S3181T	probably benign	Het
Tgfbr2	G	A	9: 115,938,960 (GRCm39)	T314I	probably benign	Het
Thbs4	G	T	13: 92,894,467 (GRCm39)	C685*	probably null	Het
Tk2	A	G	8: 104,957,803 (GRCm39)	V181A	possibly damaging	Het
Traf2	T	C	2: 25,420,427 (GRCm39)	T141A	probably benign	Het
Ttn	C	T	2: 76,661,788 (GRCm39)		probably null	Het
Ube3c	A	G	5: 29,803,936 (GRCm39)	T180A	possibly damaging	Het
Yif1b	C	T	7: 28,937,835 (GRCm39)	A7V	possibly damaging	Het
Zfp738	A	T	13: 67,819,508 (GRCm39)	L151*	probably null	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
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
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'- GATGCGAAGACCACAGTTGC -3'
(R):5'- CGCCATAATCTCCAGTGTTGC -3'

Sequencing Primer
(F):5'- CACAGTTGCGCCCACTG -3'
(R):5'- TGTTGCTGAGGTCCGACAACAG -3'

Posted On

2015-02-19