Mutagenetix > Incidental Mutation

Incidental Mutation 'R2496:Mlx'

251211

Institutional Source

Beutler Lab

Gene Symbol

Mlx

Ensembl Gene

ENSMUSG00000017801

Gene Name

MAX-like protein X

Synonyms

bHLHd13, Tcfl4, BigMax alpha

MMRRC Submission

040410-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2496 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

100978103-100983033 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 100979080 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 87 (T87I)

Ref Sequence

ENSEMBL: ENSMUSP00000017945 (fasta)

Gene Model

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

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 benign
Transcript: ENSMUST00000017945
AA Change: T87I

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

SMART Domains

Protein: ENSMUSP00000017945
Gene: ENSMUSG00000017801
AA Change: T87I

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 benign
Transcript: ENSMUST00000107302
AA Change: T33I

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000102923
Gene: ENSMUSG00000017801
AA Change: T33I

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

Predicted Effect

probably benign
Transcript: ENSMUST00000107303

SMART Domains

Protein: ENSMUSP00000102924
Gene: ENSMUSG00000017801

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: ENSMUST00000151056

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000149411

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000145187

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000143344

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000134520

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000151686

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

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

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 97.1%
20x: 94.6%

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: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acan	T	C	7: 78,761,065 (GRCm39)	W1926R	probably damaging	Het
Arhgef25	T	C	10: 127,023,063 (GRCm39)	T106A	probably benign	Het
Baz1b	G	A	5: 135,239,629 (GRCm39)	R243Q	probably damaging	Het
Cdhr3	A	G	12: 33,099,068 (GRCm39)	Y508H	probably benign	Het
Cyp2d9	T	A	15: 82,336,680 (GRCm39)	W10R	probably damaging	Het
Dmxl1	A	G	18: 50,013,858 (GRCm39)	T1549A	possibly damaging	Het
Dnah8	A	T	17: 31,070,705 (GRCm39)	R4464W	probably damaging	Het
Dpp4	G	A	2: 62,217,477 (GRCm39)	T40M	possibly damaging	Het
Dync1h1	A	G	12: 110,607,654 (GRCm39)	H2723R	possibly damaging	Het
E2f3	C	T	13: 30,095,289 (GRCm39)	S333N	probably damaging	Het
Fam120a	G	T	13: 49,121,069 (GRCm39)	A79E	probably damaging	Het
Fat3	A	G	9: 15,877,399 (GRCm39)	S3405P	probably benign	Het
Gaa	T	C	11: 119,174,531 (GRCm39)	S793P	possibly damaging	Het
Galc	A	C	12: 98,193,540 (GRCm39)	F350V	probably damaging	Het
Garre1	A	G	7: 33,955,916 (GRCm39)	V391A	possibly damaging	Het
Gm136	A	G	4: 34,746,541 (GRCm39)	C157R	probably damaging	Het
Gm3327	A	C	14: 44,363,720 (GRCm39)	N108T	unknown	Het
H2-M10.2	A	G	17: 36,596,771 (GRCm39)	Y102H	possibly damaging	Het
Hmcn1	A	T	1: 150,490,972 (GRCm39)	D4192E	probably benign	Het
Hpse2	A	C	19: 43,001,482 (GRCm39)		probably null	Het
Idh3a	T	C	9: 54,510,633 (GRCm39)	V362A	probably benign	Het
Kdm7a	A	T	6: 39,147,697 (GRCm39)		probably null	Het
Krt6b	A	G	15: 101,588,216 (GRCm39)	V148A	probably damaging	Het
Lrba	G	A	3: 86,439,394 (GRCm39)	R1977H	probably damaging	Het
Magi2	A	T	5: 19,883,750 (GRCm39)	Y134F	probably benign	Het
Mamdc4	T	C	2: 25,455,914 (GRCm39)	Y801C	probably damaging	Het
Maml1	T	C	11: 50,149,371 (GRCm39)	T790A	probably benign	Het
Map3k19	A	G	1: 127,750,823 (GRCm39)	Y843H	probably damaging	Het
Mdfic	A	T	6: 15,741,041 (GRCm39)	H45L	possibly damaging	Het
Mms22l	T	A	4: 24,521,269 (GRCm39)	I382K	probably benign	Het
Mtf1	A	G	4: 124,732,697 (GRCm39)	N585S	probably benign	Het
Mylk2	C	T	2: 152,755,588 (GRCm39)	P251S	probably damaging	Het
Myorg	A	G	4: 41,499,165 (GRCm39)	V155A	probably benign	Het
Nox4	A	T	7: 86,955,958 (GRCm39)	T157S	probably benign	Het
Oas2	A	T	5: 120,886,682 (GRCm39)	H161Q	probably benign	Het
Obscn	A	T	11: 58,994,268 (GRCm39)	V1563E	probably damaging	Het
Or2n1b	T	C	17: 38,460,322 (GRCm39)	V281A	possibly damaging	Het
Or55b3	T	C	7: 102,126,354 (GRCm39)	K241R	probably damaging	Het
Or6c203	A	C	10: 129,009,966 (GRCm39)	F308C	probably benign	Het
Pcdhb11	T	A	18: 37,555,375 (GRCm39)	I235N	probably benign	Het
Pcsk5	A	T	19: 17,443,522 (GRCm39)	C1212*	probably null	Het
Ptges	C	T	2: 30,782,722 (GRCm39)	G110D	possibly damaging	Het
Rsph4a	A	T	10: 33,784,094 (GRCm39)	I239L	possibly damaging	Het
Setx	A	G	2: 29,034,813 (GRCm39)	I433V	probably benign	Het
Smyd4	T	C	11: 75,281,927 (GRCm39)	S467P	probably benign	Het
Snai2	A	T	16: 14,523,866 (GRCm39)	H10L	possibly damaging	Het
Snw1	T	C	12: 87,497,589 (GRCm39)	I467V	probably benign	Het
Stab1	A	T	14: 30,883,420 (GRCm39)	C301S	probably damaging	Het
Tax1bp1	T	A	6: 52,735,342 (GRCm39)		probably null	Het
Tmem70	C	A	1: 16,735,575 (GRCm39)	P15Q	probably benign	Het
Tmem87a	T	C	2: 120,224,859 (GRCm39)	E134G	probably damaging	Het
Ubr4	C	T	4: 139,200,516 (GRCm39)		probably benign	Het
Ugt2b37	C	T	5: 87,402,569 (GRCm39)	V21M	probably damaging	Het
Ugt2b38	T	A	5: 87,569,551 (GRCm39)	I259F	probably damaging	Het
Zfp804a	T	A	2: 82,066,188 (GRCm39)	L53Q	probably damaging	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
R5699:Mlx	UTSW	11	100,979,520 (GRCm39)	missense	possibly damaging	0.92
R5961:Mlx	UTSW	11	100,980,053 (GRCm39)	missense	probably damaging	1.00
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'- TAAGTCCTCTGGGCAGTGTAG -3'
(R):5'- GTGAAAGACAGTGAGCCTCG -3'

Sequencing Primer
(F):5'- TCTGGGCAGTGTAGACCCTG -3'
(R):5'- CTCGGGCTTGGCACTGTTC -3'

Posted On

2014-12-04