Mutagenetix > Incidental Mutation

Incidental Mutation 'R5961:Mlx'

471847

Institutional Source

Beutler Lab

Gene Symbol

Mlx

Ensembl Gene

ENSMUSG00000017801

Gene Name

MAX-like protein X

Synonyms

bHLHd13, Tcfl4, BigMax alpha

MMRRC Submission

043247-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5961 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

100978103-100983033 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 100980053 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 129 (Y129H)

Ref Sequence

ENSEMBL: ENSMUSP00000102923 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000001806] [ENSMUST00000017945] [ENSMUST00000019447] [ENSMUST00000107302] [ENSMUST00000107303] [ENSMUST00000107308] [ENSMUST00000142545] [ENSMUST00000149597]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000001806

SMART Domains

Protein: ENSMUSP00000001806
Gene: ENSMUSG00000001755

Domain	Start	End	E-Value	Type
signal peptide	1	19	N/A	INTRINSIC
low complexity region	159	170	N/A	INTRINSIC
Pfam:CTP_transf_2	194	338	1.4e-11	PFAM
Pfam:CoaE	358	536	5.6e-44	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000017945
AA Change: Y183H

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000017945
Gene: ENSMUSG00000017801
AA Change: Y183H

Domain	Start	End	E-Value	Type
low complexity region	18	41	N/A	INTRINSIC
HLH	135	193	8.13e-15	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000019447

SMART Domains

Protein: ENSMUSP00000019447
Gene: ENSMUSG00000019303

Domain	Start	End	E-Value	Type
Pfam:TBPIP	11	181	1.9e-69	PFAM
Pfam:Penicillinase_R	14	123	6.1e-8	PFAM
Pfam:Mnd1	16	209	2.4e-14	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000107302
AA Change: Y129H

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

SMART Domains

Protein: ENSMUSP00000102923
Gene: ENSMUSG00000017801
AA Change: Y129H

Domain	Start	End	E-Value	Type
HLH	81	139	8.13e-15	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000107303
AA Change: Y99H

PolyPhen 2 Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000102924
Gene: ENSMUSG00000017801
AA Change: Y99H

Domain	Start	End	E-Value	Type
low complexity region	20	32	N/A	INTRINSIC
HLH	51	109	8.13e-15	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000107308

SMART Domains

Protein: ENSMUSP00000102929
Gene: ENSMUSG00000001755

Domain	Start	End	E-Value	Type
signal peptide	1	19	N/A	INTRINSIC
low complexity region	159	170	N/A	INTRINSIC
Pfam:CTP_transf_like	194	338	5.3e-11	PFAM
Pfam:CoaE	358	536	1.7e-43	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000126386

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000149411

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000151056

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000151686

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000145187

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000134520

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000143344

Predicted Effect

probably benign
Transcript: ENSMUST00000142545

SMART Domains

Protein: ENSMUSP00000117100
Gene: ENSMUSG00000019303

Domain	Start	End	E-Value	Type
Pfam:TBPIP	11	83	6.2e-33	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000149597

SMART Domains

Protein: ENSMUSP00000121600
Gene: ENSMUSG00000017801

Domain	Start	End	E-Value	Type
low complexity region	18	41	N/A	INTRINSIC
low complexity region	74	86	N/A	INTRINSIC
Pfam:HLH	100	127	2.5e-8	PFAM

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.0%
20x: 93.7%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The product of this gene belongs to the family of basic helix-loop-helix leucine zipper (bHLH-Zip) transcription factors. These factors form heterodimers with Mad proteins and play a role in proliferation, determination and differentiation. This gene product may act to diversify Mad family function by its restricted association with a subset of the Mad family of transcriptional repressors, namely, Mad1 and Mad4. Alternatively spliced transcript variants encoding different isoforms have been identified for this gene. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ackr4	A	G	9: 103,976,338 (GRCm39)	L203P	probably damaging	Het
Aen	C	G	7: 78,556,907 (GRCm39)	H252D	probably damaging	Het
Alkbh6	T	A	7: 30,013,617 (GRCm39)		probably null	Het
Birc6	T	C	17: 74,953,596 (GRCm39)	V3286A	probably damaging	Het
Cacna1h	A	G	17: 25,596,246 (GRCm39)	M1925T	probably benign	Het
Caprin2	A	C	6: 148,765,038 (GRCm39)	S554R	probably damaging	Het
Celsr3	T	C	9: 108,708,993 (GRCm39)	S1280P	probably damaging	Het
Cfap57	T	C	4: 118,428,942 (GRCm39)	E1008G	probably benign	Het
Csmd1	A	G	8: 16,120,366 (GRCm39)	I1813T	probably damaging	Het
Dnah10	A	G	5: 124,888,546 (GRCm39)	E3050G	probably benign	Het
Dnah2	A	G	11: 69,321,974 (GRCm39)	F3782S	probably damaging	Het
Dnah2	C	T	11: 69,349,746 (GRCm39)	R2399Q	probably benign	Het
Dnajc17	T	C	2: 119,016,527 (GRCm39)	T64A	possibly damaging	Het
Dvl3	T	G	16: 20,349,729 (GRCm39)	S567R	possibly damaging	Het
Epb41l1	T	A	2: 156,363,706 (GRCm39)	S738R	probably benign	Het
Exph5	T	C	9: 53,288,555 (GRCm39)	W1879R	probably damaging	Het
Fam83a	T	A	15: 57,872,992 (GRCm39)	F274I	possibly damaging	Het
Ggt1	A	G	10: 75,421,736 (GRCm39)		probably null	Het
Ido2	C	T	8: 25,023,786 (GRCm39)	V351M	probably damaging	Het
Kcnt2	A	G	1: 140,435,440 (GRCm39)	E469G	possibly damaging	Het
Kdm2b	A	G	5: 123,070,724 (GRCm39)	S403P	probably benign	Het
Klhl2	C	T	8: 65,202,818 (GRCm39)	R460H	probably damaging	Het
Mfsd6l	A	G	11: 68,447,368 (GRCm39)	Y73C	possibly damaging	Het
Mlec	A	T	5: 115,288,159 (GRCm39)	C205*	probably null	Het
Mmadhc	T	C	2: 50,181,421 (GRCm39)	H83R	probably damaging	Het
Mmp16	T	C	4: 17,853,842 (GRCm39)	F41S	probably benign	Het
Mroh6	G	A	15: 75,759,617 (GRCm39)	Q187*	probably null	Het
Myh14	T	A	7: 44,272,518 (GRCm39)	E1437V	probably damaging	Het
Nrxn1	A	C	17: 90,762,371 (GRCm39)	L37R	probably damaging	Het
Or6c209	T	C	10: 129,483,723 (GRCm39)	M242T	possibly damaging	Het
Pkhd1l1	A	C	15: 44,322,859 (GRCm39)	R48S	probably damaging	Het
Prokr2	A	G	2: 132,215,595 (GRCm39)	Y128H	possibly damaging	Het
Prtg	T	C	9: 72,764,228 (GRCm39)	V567A	probably benign	Het
Rbis	T	C	3: 14,676,124 (GRCm39)	T26A	possibly damaging	Het
Srrm2	G	A	17: 24,039,083 (GRCm39)		probably benign	Het
Stat4	A	T	1: 52,104,543 (GRCm39)	I115L	possibly damaging	Het
Tnxb	G	A	17: 34,937,609 (GRCm39)	V3833M	probably damaging	Het
Ugt2b36	C	T	5: 87,228,724 (GRCm39)		probably null	Het
Usp45	A	C	4: 21,810,797 (GRCm39)	D331A	probably damaging	Het
Usp47	T	C	7: 111,652,523 (GRCm39)	S47P	probably damaging	Het
Vps53	A	G	11: 75,939,316 (GRCm39)	Y696H	probably damaging	Het
Zfp384	T	C	6: 125,000,997 (GRCm39)	I23T	probably damaging	Het
Zfp804a	A	G	2: 82,088,346 (GRCm39)	Y725C	probably benign	Het

Other mutations in Mlx

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0625:Mlx	UTSW	11	100,978,608 (GRCm39)	missense	possibly damaging	0.96
R2004:Mlx	UTSW	11	100,979,805 (GRCm39)	missense	possibly damaging	0.70
R2081:Mlx	UTSW	11	100,978,257 (GRCm39)	missense	probably benign
R2496:Mlx	UTSW	11	100,979,080 (GRCm39)	missense	probably benign	0.00
R5699:Mlx	UTSW	11	100,979,520 (GRCm39)	missense	possibly damaging	0.92
R7102:Mlx	UTSW	11	100,979,802 (GRCm39)	missense	probably benign	0.01
R7131:Mlx	UTSW	11	100,980,068 (GRCm39)	missense	probably damaging	1.00
R8360:Mlx	UTSW	11	100,978,140 (GRCm39)	start gained	probably benign
R8854:Mlx	UTSW	11	100,981,951 (GRCm39)	missense

Predicted Primers

PCR Primer
(F):5'- AGCCATCGTTCTACAGAAGAGTATG -3'
(R):5'- TGCTGGGTCACCTACATGTG -3'

Sequencing Primer
(F):5'- TCGTTCTACAGAAGAGTATGTCCAGG -3'
(R):5'- ACCTACATGTGTTCTCCAACATAG -3'

Posted On

2017-03-31