Mutagenetix > Incidental Mutation

Incidental Mutation 'R6048:Mxd1'

483382

Institutional Source

Beutler Lab

Gene Symbol

Mxd1

Ensembl Gene

ENSMUSG00000001156

Gene Name

MAX dimerization protein 1

Synonyms

Mad1, Mad

MMRRC Submission

044216-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.518) question?

Stock #

R6048 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

86624026-86646099 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 86627966 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Tyrosine at position 191 (D191Y)

Ref Sequence

ENSEMBL: ENSMUSP00000001184 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000001184] [ENSMUST00000203946] [ENSMUST00000204437]

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000001184
AA Change: D191Y

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000001184
Gene: ENSMUSG00000001156
AA Change: D191Y

Domain	Start	End	E-Value	Type
PDB:1PD7\|B	5	28	6e-7	PDB
HLH	61	113	1.14e-9	SMART
low complexity region	143	175	N/A	INTRINSIC
low complexity region	181	197	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000203946

SMART Domains

Protein: ENSMUSP00000145081
Gene: ENSMUSG00000001156

Domain	Start	End	E-Value	Type
HLH	6	58	4.8e-12	SMART
low complexity region	88	104	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000204437

SMART Domains

Protein: ENSMUSP00000145396
Gene: ENSMUSG00000001156

Domain	Start	End	E-Value	Type
PDB:1PD7\|B	5	28	3e-8	PDB

Meta Mutation Damage Score

0.1397

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 97.9%
20x: 93.5%

Validation Efficiency

98% (60/61)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the MYC/MAX/MAD network of basic helix-loop-helix leucine zipper transcription factors. The MYC/MAX/MAD transcription factors mediate cellular proliferation, differentiation and apoptosis. The encoded protein antagonizes MYC-mediated transcriptional activation of target genes by competing for the binding partner MAX and recruiting repressor complexes containing histone deacetylases. Mutations in this gene may play a role in acute leukemia, and the encoded protein is a potential tumor suppressor. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Feb 2011]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit altered myelopoiesis, increased proliferative potential of bone marrow granulocytic precursors, increased sensitivity of myeloid cells to apoptosis-inducing stimuli, and inhibited cell cycle withdrawal during a late stage of granulocyte differentiation. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aldh1a2	T	C	9: 71,169,049 (GRCm39)	I177T	probably damaging	Het
Aopep	T	A	13: 63,388,139 (GRCm39)	F39L	probably damaging	Het
Arl4c	A	G	1: 88,629,350 (GRCm39)	S13P	possibly damaging	Het
Bst1	G	T	5: 43,976,306 (GRCm39)		probably benign	Het
Carmil3	G	A	14: 55,741,302 (GRCm39)	R1029Q	probably benign	Het
Cflar	A	G	1: 58,780,202 (GRCm39)	T269A	probably benign	Het
Clcnka	T	A	4: 141,121,798 (GRCm39)	Y236F	probably damaging	Het
Clmp	T	A	9: 40,682,405 (GRCm39)	I63N	probably damaging	Het
Cln6	T	C	9: 62,751,908 (GRCm39)	L44P	probably damaging	Het
Col5a3	C	T	9: 20,718,915 (GRCm39)	A280T	unknown	Het
Dact2	A	G	17: 14,417,567 (GRCm39)	L211P	probably damaging	Het
Dclk2	G	T	3: 86,813,272 (GRCm39)	Q225K	probably damaging	Het
Ddx60	T	C	8: 62,453,616 (GRCm39)	F1245S	probably benign	Het
Efcab3	A	G	11: 104,835,259 (GRCm39)	K3540E	unknown	Het
Eif3i	T	C	4: 129,487,145 (GRCm39)	N240S	probably benign	Het
Enpp1	T	C	10: 24,536,152 (GRCm39)	Y416C	probably damaging	Het
Epb42	T	A	2: 120,854,889 (GRCm39)	R565S	probably benign	Het
Eral1	G	A	11: 77,966,609 (GRCm39)	P217L	probably benign	Het
Fbxl16	A	G	17: 26,035,967 (GRCm39)	Y188C	probably benign	Het
Fgd3	G	A	13: 49,427,224 (GRCm39)	P503S	probably benign	Het
Frem3	T	C	8: 81,340,062 (GRCm39)	L785P	probably benign	Het
Gadl1	A	G	9: 115,835,769 (GRCm39)		probably null	Het
Gm10787	C	T	10: 76,857,676 (GRCm39)		noncoding transcript	Het
Gm6563	A	G	19: 23,653,246 (GRCm39)	K12R	probably benign	Het
Grm5	T	C	7: 87,675,758 (GRCm39)	L424P	probably damaging	Het
H2ac11	A	G	13: 22,227,006 (GRCm39)	V31A	probably benign	Het
Il17re	T	C	6: 113,447,069 (GRCm39)	S607P	possibly damaging	Het
Ints7	A	G	1: 191,353,524 (GRCm39)		probably benign	Het
Itih1	A	G	14: 30,651,780 (GRCm39)	M854T	possibly damaging	Het
Kif1b	A	G	4: 149,348,086 (GRCm39)	L315P	probably damaging	Het
Ms4a6b	T	C	19: 11,497,734 (GRCm39)	V11A	possibly damaging	Het
Nol8	T	A	13: 49,807,160 (GRCm39)		probably null	Het
Ntn4	T	A	10: 93,543,128 (GRCm39)		probably null	Het
Nxph1	A	T	6: 9,247,103 (GRCm39)	T25S	probably benign	Het
Or1n1	A	G	2: 36,749,853 (GRCm39)	V169A	probably benign	Het
Or2bd2	A	C	7: 6,443,354 (GRCm39)	T152P	possibly damaging	Het
Or3a1	A	T	11: 74,225,961 (GRCm39)	I32K	probably benign	Het
Or51f1d	A	G	7: 102,700,526 (GRCm39)	N7S	probably benign	Het
Or5ac20	C	T	16: 59,104,342 (GRCm39)	V173I	probably benign	Het
Or6c219	A	G	10: 129,781,695 (GRCm39)	F79L	possibly damaging	Het
Oxsm	T	A	14: 16,242,308 (GRCm38)	M154L	possibly damaging	Het
Papolg	A	C	11: 23,841,815 (GRCm39)	I36S	probably benign	Het
Pde3b	T	A	7: 114,107,502 (GRCm39)	H544Q	probably benign	Het
Pdzd2	A	T	15: 12,592,656 (GRCm39)		probably null	Het
Prkce	C	A	17: 86,800,775 (GRCm39)	P397Q	probably benign	Het
Ralgapa2	T	C	2: 146,276,765 (GRCm39)	S492G	possibly damaging	Het
Rnf216	A	G	5: 143,054,659 (GRCm39)	Y630H	probably damaging	Het
Ruvbl1	C	T	6: 88,459,973 (GRCm39)	T211I	possibly damaging	Het
Scyl2	A	T	10: 89,481,348 (GRCm39)	D666E	probably benign	Het
Sertad2	A	G	11: 20,598,436 (GRCm39)	T211A	probably benign	Het
Sipa1l1	A	T	12: 82,487,643 (GRCm39)	Q1639L	probably benign	Het
Snx5	T	C	2: 144,101,073 (GRCm39)	D98G	probably damaging	Het
Sorcs2	G	T	5: 36,185,332 (GRCm39)		probably null	Het
Spmip2	T	C	3: 79,313,192 (GRCm39)	S89P	probably damaging	Het
Tanc2	G	A	11: 105,758,543 (GRCm39)	R768Q	probably damaging	Het
Tmem132d	A	G	5: 128,346,181 (GRCm39)	S114P	probably benign	Het
Tns2	G	A	15: 102,019,846 (GRCm39)	G579R	probably damaging	Het
Usp37	A	T	1: 74,517,295 (GRCm39)		probably null	Het
Vmn1r79	T	C	7: 11,910,448 (GRCm39)	I110T	probably damaging	Het
Vps37a	C	T	8: 40,981,363 (GRCm39)	L69F	probably damaging	Het
Xirp2	T	A	2: 67,338,587 (GRCm39)	I276N	possibly damaging	Het
Zfp946	G	A	17: 22,673,821 (GRCm39)	E192K	probably benign	Het

Other mutations in Mxd1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
LCD18:Mxd1	UTSW	6	86,644,388 (GRCm39)	intron	probably benign
R1385:Mxd1	UTSW	6	86,628,549 (GRCm39)	missense	probably damaging	0.96
R1510:Mxd1	UTSW	6	86,630,137 (GRCm39)	missense	possibly damaging	0.96
R1595:Mxd1	UTSW	6	86,628,453 (GRCm39)	missense	possibly damaging	0.93
R2126:Mxd1	UTSW	6	86,628,422 (GRCm39)	critical splice donor site	probably null
R3905:Mxd1	UTSW	6	86,627,942 (GRCm39)	missense	probably benign	0.44
R3907:Mxd1	UTSW	6	86,627,942 (GRCm39)	missense	probably benign	0.44
R3909:Mxd1	UTSW	6	86,627,942 (GRCm39)	missense	probably benign	0.44
R7060:Mxd1	UTSW	6	86,630,141 (GRCm39)	missense	probably damaging	1.00
R7351:Mxd1	UTSW	6	86,628,448 (GRCm39)	missense	probably damaging	1.00
R8969:Mxd1	UTSW	6	86,628,466 (GRCm39)	missense	probably benign	0.04
R9315:Mxd1	UTSW	6	86,627,926 (GRCm39)	missense	probably damaging	1.00
R9711:Mxd1	UTSW	6	86,645,554 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TCTGCAAAGTGGACAGAGCTG -3'
(R):5'- CTGTAAGAGTTAGGTAGCCAAGCC -3'

Sequencing Primer
(F):5'- CAGAGCTGCTATTGGTCAAGG -3'
(R):5'- TTAGGTAGCCAAGCCCAAGG -3'

Posted On

2017-07-14