Mutagenetix > Incidental Mutation

Incidental Mutation 'R9428:Mxi1'

712780

Institutional Source

Beutler Lab

Gene Symbol

Mxi1

Ensembl Gene

ENSMUSG00000025025

Gene Name

MAX interactor 1, dimerization protein

Synonyms

bHLHc11, Mad2

MMRRC Submission

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.303) question?

Stock #

R9428 (G1)

Quality Score

94.0077

Status

Not validated

Chromosome

Chromosomal Location

53298509-53361724 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 53299213 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Proline to Glutamine at position 28 (P28Q)

Ref Sequence

ENSEMBL: ENSMUSP00000003870 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000003870]

AlphaFold

P50540

Predicted Effect

probably benign
Transcript: ENSMUST00000003870
AA Change: P28Q

PolyPhen 2 Score 0.022 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000003870
Gene: ENSMUSG00000025025
AA Change: P28Q

Domain	Start	End	E-Value	Type
low complexity region	16	45	N/A	INTRINSIC
HLH	140	192	4.4e-11	SMART
low complexity region	230	252	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

MGI Phenotype

FUNCTION: This gene encodes a protein containing a helix-loop-helix domain characteristic of transcription factors, which allows heterodimerization and sequence-specific DNA binding. The encoded protein is related to a family of Myc/Max/Mad proteins that are involved in the regulation of several cellular processes. The protein encoded by this gene is a transcriptional repressor thought to negatively regulate Myc function. Three alternatively spliced transcripts encoding different isoforms have been described. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous null mice show multisystem anomalies including progressive hyperplasia in the spleen and prostate, degenerative changes in the kidney, and increased sensitivity to carcinogens. In addition, mutant embryo fibroblasts are more prone to transformation by the Myc and Ras oncogenes. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 76 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acte1	G	T	7: 143,434,902 (GRCm39)		probably null	Het
Agmo	A	G	12: 37,455,330 (GRCm39)	I281M	probably benign	Het
Ahdc1	C	T	4: 132,791,773 (GRCm39)	P1005S	possibly damaging	Het
Akap12	T	A	10: 4,303,409 (GRCm39)	V178D	probably damaging	Het
Arc	A	G	15: 74,543,063 (GRCm39)	S387P	probably benign	Het
Arhgap11a	C	T	2: 113,667,279 (GRCm39)	V423I	probably benign	Het
Arhgap44	A	G	11: 64,899,168 (GRCm39)	S670P	probably damaging	Het
C4b	G	A	17: 34,949,885 (GRCm39)	T1433M	possibly damaging	Het
C4bp	A	T	1: 130,581,094 (GRCm39)	F138L	probably benign	Het
Carmil1	A	T	13: 24,295,834 (GRCm39)	C393*	probably null	Het
Cblif	A	G	19: 11,735,102 (GRCm39)	T241A	probably benign	Het
Celsr1	A	T	15: 85,815,549 (GRCm39)	V1822E	possibly damaging	Het
Chgb	C	G	2: 132,635,154 (GRCm39)	S365R	probably damaging	Het
Cnih3	T	C	1: 181,180,857 (GRCm39)		probably benign	Het
Dcaf1	T	A	9: 106,735,528 (GRCm39)	D825E	possibly damaging	Het
Dlx3	T	C	11: 95,011,430 (GRCm39)	Y95H	probably benign	Het
Dmbt1	A	T	7: 130,668,208 (GRCm39)	E488V	unknown	Het
Espnl	A	G	1: 91,273,595 (GRCm39)	Y985C	probably damaging	Het
Frmpd2	T	C	14: 33,272,010 (GRCm39)	V1048A	probably damaging	Het
Fxn	A	T	19: 24,249,787 (GRCm39)	L100Q	probably damaging	Het
Gapvd1	T	A	2: 34,607,318 (GRCm39)	D560V	probably damaging	Het
Gm4924	T	A	10: 82,213,490 (GRCm39)	H429Q	unknown	Het
Gpr158	T	C	2: 21,787,972 (GRCm39)	F538L	probably benign	Het
Itpr1	T	A	6: 108,378,308 (GRCm39)	M1278K	possibly damaging	Het
Ivd	T	A	2: 118,708,369 (GRCm39)	V361E	probably damaging	Het
Kcnh6	T	C	11: 105,899,821 (GRCm39)	L30P	probably damaging	Het
Lipo4	C	T	19: 33,495,074 (GRCm39)	V35I	probably benign	Het
Lmo7	A	G	14: 102,155,076 (GRCm39)	D1200G	probably damaging	Het
Med1	T	A	11: 98,080,049 (GRCm39)	R31*	probably null	Het
Mill2	A	T	7: 18,573,950 (GRCm39)	R12*	probably null	Het
Mphosph8	A	G	14: 56,934,114 (GRCm39)		probably null	Het
Mtfr2	T	A	10: 20,233,039 (GRCm39)	S203T	possibly damaging	Het
Muc5ac	A	C	7: 141,362,559 (GRCm39)	T1957P	unknown	Het
Mycbpap	T	C	11: 94,393,995 (GRCm39)	D367G	probably damaging	Het
Nav3	T	C	10: 109,605,176 (GRCm39)	T966A	probably benign	Het
Nbea	AC	A	3: 55,998,393 (GRCm39)		probably null	Het
Ndst2	A	T	14: 20,775,470 (GRCm39)	F673L	possibly damaging	Het
Ndst3	T	A	3: 123,340,518 (GRCm39)	I767F	probably benign	Het
Nell1	A	T	7: 50,503,683 (GRCm39)	D696V	probably damaging	Het
Nol9	A	T	4: 152,124,109 (GRCm39)	T100S	probably benign	Het
Nr4a1	T	C	15: 101,168,245 (GRCm39)	S94P	probably damaging	Het
Nrdc	T	C	4: 108,858,121 (GRCm39)	I31T	probably damaging	Het
Oas2	T	A	5: 120,887,576 (GRCm39)	D88V	probably damaging	Het
Or8w1	T	C	2: 87,465,774 (GRCm39)	I106V	probably benign	Het
Pex6	A	G	17: 47,022,991 (GRCm39)	H189R	probably benign	Het
Pgap1	A	G	1: 54,575,206 (GRCm39)	S239P	probably damaging	Het
Pheta1	C	T	5: 121,991,147 (GRCm39)	P170S	possibly damaging	Het
Plec	A	G	15: 76,067,721 (GRCm39)		probably null	Het
Plekhg5	T	C	4: 152,192,780 (GRCm39)	V582A	probably benign	Het
Plekhh2	G	T	17: 84,873,841 (GRCm39)	E375D	probably benign	Het
Pramel55	G	T	5: 95,949,545 (GRCm39)	R97S	probably damaging	Het
Prp2rt	A	G	13: 97,235,724 (GRCm39)	S8P	probably benign	Het
Psmd4	G	A	3: 94,940,767 (GRCm39)	T332I	probably benign	Het
Ptprc	T	A	1: 138,041,485 (GRCm39)	T76S	probably benign	Het
Rab44	A	T	17: 29,358,315 (GRCm39)	I168L		Het
Ros1	T	C	10: 51,958,061 (GRCm39)	T1872A	probably benign	Het
Scgb1b24	A	T	7: 33,443,493 (GRCm39)	K51*	probably null	Het
Scube2	A	T	7: 109,428,345 (GRCm39)	D509E	probably benign	Het
Sgo2b	A	T	8: 64,393,067 (GRCm39)	S123R	probably damaging	Het
Smc3	G	C	19: 53,617,150 (GRCm39)	R521P	possibly damaging	Het
Socs4	G	A	14: 47,528,034 (GRCm39)	R323H	probably damaging	Het
Socs5	T	A	17: 87,441,067 (GRCm39)	D2E	probably benign	Het
Sra1	A	G	18: 36,810,299 (GRCm39)	V121A	probably damaging	Het
Stimate	T	C	14: 30,594,645 (GRCm39)	S253P	probably benign	Het
Tanc1	T	C	2: 59,601,548 (GRCm39)	L143P	probably damaging	Het
Tcerg1l	A	T	7: 137,811,490 (GRCm39)	F568Y	probably damaging	Het
Trpm7	T	C	2: 126,671,140 (GRCm39)	E614G	probably damaging	Het
Tuba4a	G	T	1: 75,192,686 (GRCm39)	H337Q		Het
Tubgcp6	G	A	15: 88,985,100 (GRCm39)	H1663Y	probably damaging	Het
Ush2a	A	G	1: 188,175,316 (GRCm39)	Y1138C	probably damaging	Het
Vmn1r18	A	T	6: 57,367,535 (GRCm39)	N6K	possibly damaging	Het
Vmn1r213	G	A	13: 23,195,944 (GRCm39)	A176T		Het
Vmn1r215	A	T	13: 23,260,749 (GRCm39)	H263L	probably benign	Het
Vmn2r51	CGGCCAATAGAAGAAACTTTTACCTTCAAGCAGTGAGAACTGGC	CGGC	7: 9,833,712 (GRCm39)		probably benign	Het
Wdhd1	A	C	14: 47,489,427 (GRCm39)	L702*	probably null	Het
Zc3h12a	T	C	4: 125,020,558 (GRCm39)	E95G	probably benign	Het

Other mutations in Mxi1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R1895:Mxi1	UTSW	19	53,358,775 (GRCm39)	missense	probably benign	0.13
R3691:Mxi1	UTSW	19	53,358,062 (GRCm39)	missense	probably damaging	1.00
R3774:Mxi1	UTSW	19	53,360,160 (GRCm39)	missense	probably benign	0.18
R3775:Mxi1	UTSW	19	53,360,160 (GRCm39)	missense	probably benign	0.18
R3776:Mxi1	UTSW	19	53,360,160 (GRCm39)	missense	probably benign	0.18
R4020:Mxi1	UTSW	19	53,360,160 (GRCm39)	missense	probably benign	0.18
R4825:Mxi1	UTSW	19	53,358,769 (GRCm39)	nonsense	probably null
R4832:Mxi1	UTSW	19	53,358,745 (GRCm39)	missense	probably damaging	1.00
R7469:Mxi1	UTSW	19	53,360,091 (GRCm39)	missense	probably damaging	1.00
R7480:Mxi1	UTSW	19	53,360,066 (GRCm39)	missense	possibly damaging	0.91
R7487:Mxi1	UTSW	19	53,360,088 (GRCm39)	missense	probably damaging	1.00
R7891:Mxi1	UTSW	19	53,299,192 (GRCm39)	missense	probably benign	0.00
R8236:Mxi1	UTSW	19	53,358,029 (GRCm39)	missense	probably damaging	1.00
R8843:Mxi1	UTSW	19	53,360,126 (GRCm39)	missense	probably damaging	1.00
R8851:Mxi1	UTSW	19	53,360,126 (GRCm39)	missense	probably damaging	1.00
R8863:Mxi1	UTSW	19	53,360,126 (GRCm39)	missense	probably damaging	1.00
R8869:Mxi1	UTSW	19	53,360,126 (GRCm39)	missense	probably damaging	1.00
R8870:Mxi1	UTSW	19	53,360,126 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TTGACCGGTCAGATGGCATC -3'
(R):5'- TCTCGATCTGCTCCAGGTAG -3'

Sequencing Primer
(F):5'- TCAGATGGCATCGGGCTC -3'
(R):5'- ATCTGCTCCAGGTAGCTGGC -3'

Posted On

2022-05-16