Mutagenetix > Incidental Mutation

Incidental Mutation 'R3774:Mxi1'

273529

Institutional Source

Beutler Lab

Gene Symbol

Mxi1

Ensembl Gene

ENSMUSG00000025025

Gene Name

MAX interactor 1, dimerization protein

Synonyms

bHLHc11, Mad2

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.312) question?

Stock #

R3774 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

53298509-53361724 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 53360160 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Glutamic Acid at position 294 (A294E)

Ref Sequence

ENSEMBL: ENSMUSP00000003870 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000003870] [ENSMUST00000025998] [ENSMUST00000086887] [ENSMUST00000111737]

AlphaFold

P50540

Predicted Effect

probably benign
Transcript: ENSMUST00000003870
AA Change: A294E

PolyPhen 2 Score 0.177 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000003870
Gene: ENSMUSG00000025025
AA Change: A294E

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

Predicted Effect

probably benign
Transcript: ENSMUST00000025998
AA Change: A227E

PolyPhen 2 Score 0.064 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000025998
Gene: ENSMUSG00000025025
AA Change: A227E

Domain	Start	End	E-Value	Type
low complexity region	11	27	N/A	INTRINSIC
HLH	73	125	4.4e-11	SMART
low complexity region	163	185	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000086887
AA Change: R13L

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

Predicted Effect

probably benign
Transcript: ENSMUST00000111737
AA Change: A191E

PolyPhen 2 Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000107366
Gene: ENSMUSG00000025025
AA Change: A191E

Domain	Start	End	E-Value	Type
HLH	37	89	4.4e-11	SMART
low complexity region	127	149	N/A	INTRINSIC

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.4%
20x: 95.3%

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: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acadm	A	G	3: 153,638,734 (GRCm39)	V213A	probably benign	Het
Ccndbp1	A	G	2: 120,839,581 (GRCm39)	K26R	possibly damaging	Het
Chrna10	T	C	7: 101,763,535 (GRCm39)	T87A	probably benign	Het
Col27a1	T	A	4: 63,232,963 (GRCm39)	N360K	probably benign	Het
Crispld2	T	C	8: 120,756,005 (GRCm39)	S325P	probably damaging	Het
Dgkd	T	A	1: 87,864,022 (GRCm39)	I79N	probably damaging	Het
Dhdh	T	A	7: 45,131,362 (GRCm39)	D157V	probably benign	Het
Dnajc15	A	T	14: 78,094,377 (GRCm39)		probably null	Het
Fbxo44	G	T	4: 148,241,051 (GRCm39)	F179L	probably damaging	Het
Gm5565	T	A	5: 146,095,419 (GRCm39)	E192V	probably benign	Het
Gpat4	G	A	8: 23,670,171 (GRCm39)	P286L	probably damaging	Het
Itgav	A	G	2: 83,622,308 (GRCm39)	E630G	probably damaging	Het
Iws1	T	C	18: 32,213,048 (GRCm39)	S159P	probably damaging	Het
Kif23	G	A	9: 61,832,274 (GRCm39)	S623L	probably benign	Het
Krt32	A	G	11: 99,978,947 (GRCm39)	C36R	probably benign	Het
Med12l	A	C	3: 59,155,363 (GRCm39)	Q1181P	probably damaging	Het
Megf10	G	A	18: 57,410,177 (GRCm39)	G653S	probably damaging	Het
Mon1a	A	G	9: 107,778,502 (GRCm39)	Y242C	probably damaging	Het
Msh6	G	T	17: 88,293,609 (GRCm39)	R788L	probably damaging	Het
Mttp	T	C	3: 137,820,024 (GRCm39)		probably null	Het
Olfm5	T	A	7: 103,811,056 (GRCm39)	R27S	possibly damaging	Het
Or52n2b	T	A	7: 104,566,113 (GRCm39)	Y130F	probably benign	Het
Palmd	T	C	3: 116,721,312 (GRCm39)	E81G	probably damaging	Het
Pecr	A	G	1: 72,298,530 (GRCm39)	F297L	probably benign	Het
Phf11b	A	G	14: 59,563,506 (GRCm39)	L137S	probably benign	Het
Phlpp1	GAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC	GAGCAGCAGCAGCAGCAGCAGCAGCAGC	1: 106,320,921 (GRCm39)		probably benign	Het
Plcb4	A	G	2: 135,800,065 (GRCm39)	K472E	probably benign	Het
Pomgnt1	G	A	4: 116,011,325 (GRCm39)	R230H	probably damaging	Het
Pomt1	A	G	2: 32,134,262 (GRCm39)	H261R	possibly damaging	Het
Ppm1d	T	C	11: 85,227,993 (GRCm39)	I303T	probably damaging	Het
Ptprc	T	G	1: 137,992,511 (GRCm39)	Q1205H	probably damaging	Het
Rad23b	C	T	4: 55,382,589 (GRCm39)	T264I	possibly damaging	Het
Rfc1	T	C	5: 65,421,749 (GRCm39)	Y1050C	probably damaging	Het
Septin8	T	C	11: 53,428,406 (GRCm39)	V352A	probably damaging	Het
Slc25a13	T	A	6: 6,109,288 (GRCm39)	Q358L	probably damaging	Het
Ssh1	T	C	5: 114,104,783 (GRCm39)	D12G	probably damaging	Het
Tmem59l	A	G	8: 70,939,951 (GRCm39)	L6S	unknown	Het
Tnik	T	C	3: 28,692,568 (GRCm39)	Y820H	probably damaging	Het
Trpm3	T	C	19: 22,955,966 (GRCm39)	F1143L	possibly damaging	Het
Trpm3	T	A	19: 22,965,339 (GRCm39)	S1611R	probably benign	Het
Ttyh3	A	G	5: 140,634,489 (GRCm39)	F32L	probably damaging	Het
Unkl	T	A	17: 25,407,381 (GRCm39)		probably null	Het
Vwf	T	A	6: 125,626,062 (GRCm39)		probably null	Het
Wdr11	T	A	7: 129,233,417 (GRCm39)		probably null	Het
Yeats2	A	G	16: 19,969,245 (GRCm39)	D12G	probably damaging	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
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
R9428:Mxi1	UTSW	19	53,299,213 (GRCm39)	missense	probably benign	0.02

Predicted Primers

PCR Primer
(F):5'- CACATGCAGATTATTAATGCCCC -3'
(R):5'- TTCTACCAGGGAGGCTCTAC -3'

Sequencing Primer
(F):5'- TGTTTTCTCTTTCTTCCTCCCG -3'
(R):5'- GGGAGGCTCTACCCCACTTTTC -3'

Posted On

2015-03-25