Mutagenetix > Incidental Mutation

Incidental Mutation 'R0513:Mlxipl'

47988

Institutional Source

Beutler Lab

Gene Symbol

Mlxipl

Ensembl Gene

ENSMUSG00000005373

Gene Name

MLX interacting protein-like

Synonyms

ChREBP, WS-bHLH, bHLHd14, Wbscr14

MMRRC Submission

038707-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.525) question?

Stock #

R0513 (G1)

Quality Score

131

Status

Validated

Chromosome

Chromosomal Location

135118744-135167236 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 135166117 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Leucine at position 833 (Q833L)

Ref Sequence

ENSEMBL: ENSMUSP00000005507 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000005507] [ENSMUST00000128691] [ENSMUST00000129008] [ENSMUST00000142385] [ENSMUST00000153519]

AlphaFold

Q99MZ3

Predicted Effect

probably benign
Transcript: ENSMUST00000005507
AA Change: Q833L

PolyPhen 2 Score 0.332 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000005507
Gene: ENSMUSG00000005373
AA Change: Q833L

Domain	Start	End	E-Value	Type
low complexity region	19	34	N/A	INTRINSIC
PDB:4GNT\|B	117	137	1e-8	PDB
low complexity region	261	271	N/A	INTRINSIC
low complexity region	341	350	N/A	INTRINSIC
low complexity region	387	408	N/A	INTRINSIC
low complexity region	414	437	N/A	INTRINSIC
low complexity region	457	473	N/A	INTRINSIC
low complexity region	513	531	N/A	INTRINSIC
low complexity region	574	603	N/A	INTRINSIC
HLH	667	721	1.14e-9	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000123370

SMART Domains

Protein: ENSMUSP00000116358
Gene: ENSMUSG00000005373

Domain	Start	End	E-Value	Type
HLH	19	73	1.14e-9	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000128691

SMART Domains

Protein: ENSMUSP00000121348
Gene: ENSMUSG00000005373

Domain	Start	End	E-Value	Type
low complexity region	19	34	N/A	INTRINSIC
PDB:4GNT\|B	117	137	9e-9	PDB
low complexity region	261	271	N/A	INTRINSIC
low complexity region	341	350	N/A	INTRINSIC
low complexity region	387	408	N/A	INTRINSIC
low complexity region	414	437	N/A	INTRINSIC
low complexity region	457	473	N/A	INTRINSIC
low complexity region	513	531	N/A	INTRINSIC
low complexity region	574	603	N/A	INTRINSIC
SCOP:d1hloa_	658	709	6e-7	SMART
Blast:HLH	667	699	1e-12	BLAST

Predicted Effect

probably benign
Transcript: ENSMUST00000129008

SMART Domains

Protein: ENSMUSP00000114933
Gene: ENSMUSG00000005373

Domain	Start	End	E-Value	Type
low complexity region	19	34	N/A	INTRINSIC
PDB:4GNT\|B	117	137	7e-9	PDB
low complexity region	261	271	N/A	INTRINSIC
low complexity region	341	350	N/A	INTRINSIC
low complexity region	387	408	N/A	INTRINSIC
low complexity region	414	437	N/A	INTRINSIC
low complexity region	457	473	N/A	INTRINSIC
low complexity region	513	531	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000142385

SMART Domains

Protein: ENSMUSP00000144328
Gene: ENSMUSG00000005373

Domain	Start	End	E-Value	Type
low complexity region	19	34	N/A	INTRINSIC
PDB:4GNT\|B	117	137	7e-9	PDB
low complexity region	261	271	N/A	INTRINSIC
low complexity region	341	350	N/A	INTRINSIC
low complexity region	387	408	N/A	INTRINSIC
low complexity region	414	437	N/A	INTRINSIC
low complexity region	457	473	N/A	INTRINSIC
low complexity region	513	531	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000153519

SMART Domains

Protein: ENSMUSP00000122198
Gene: ENSMUSG00000005373

Domain	Start	End	E-Value	Type
low complexity region	19	34	N/A	INTRINSIC
PDB:4GNT\|B	117	137	9e-9	PDB
low complexity region	261	271	N/A	INTRINSIC
low complexity region	341	350	N/A	INTRINSIC
low complexity region	387	408	N/A	INTRINSIC
low complexity region	414	437	N/A	INTRINSIC
low complexity region	457	473	N/A	INTRINSIC
low complexity region	513	531	N/A	INTRINSIC
low complexity region	574	603	N/A	INTRINSIC
SCOP:d1am9a_	658	696	1e-5	SMART
Blast:HLH	667	698	2e-12	BLAST
low complexity region	728	744	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000154840

SMART Domains

Protein: ENSMUSP00000121668
Gene: ENSMUSG00000005373

Domain	Start	End	E-Value	Type
HLH	26	120	7.9e-4	SMART

Meta Mutation Damage Score

0.1071

Coding Region Coverage

1x: 99.5%
3x: 98.7%
10x: 96.6%
20x: 92.9%

Validation Efficiency

99% (122/123)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a basic helix-loop-helix leucine zipper transcription factor of the Myc/Max/Mad superfamily. This protein forms a heterodimeric complex and binds and activates, in a glucose-dependent manner, carbohydrate response element (ChoRE) motifs in the promoters of triglyceride synthesis genes. The gene is deleted in Williams-Beuren syndrome, a multisystem developmental disorder caused by the deletion of contiguous genes at chromosome 7q11.23. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2015]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit reduced glycolysis and lipogenesis and severe simple carbohydrate intolerance. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 118 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4833420G17Rik	A	G	13: 119,606,195 (GRCm39)	T146A	probably benign	Het
Abcg4	A	G	9: 44,192,984 (GRCm39)	S121P	possibly damaging	Het
Actr2	T	C	11: 20,030,124 (GRCm39)	T212A	probably damaging	Het
Adcy10	T	A	1: 165,347,088 (GRCm39)	D368E	probably benign	Het
Albfm1	A	T	5: 90,725,786 (GRCm39)	T333S	probably benign	Het
Anapc15	T	C	7: 101,547,747 (GRCm39)		probably benign	Het
Aox4	A	G	1: 58,256,678 (GRCm39)	R67G	probably benign	Het
Aox4	A	G	1: 58,286,459 (GRCm39)	D697G	probably damaging	Het
Arhgap42	A	T	9: 9,005,766 (GRCm39)	S755T	probably benign	Het
Atm	A	G	9: 53,415,248 (GRCm39)	V881A	probably benign	Het
Cdkal1	C	T	13: 29,809,948 (GRCm39)		probably benign	Het
Cfap20dc	A	C	14: 8,536,609 (GRCm38)	D199E	probably damaging	Het
Cfap61	C	A	2: 145,877,215 (GRCm39)	N491K	possibly damaging	Het
Chgb	T	C	2: 132,627,897 (GRCm39)		probably benign	Het
Chrna1	C	A	2: 73,398,426 (GRCm39)		probably benign	Het
Chst10	A	G	1: 38,904,844 (GRCm39)	L283P	probably damaging	Het
Clca3a1	A	G	3: 144,466,323 (GRCm39)		probably null	Het
Crppa	A	T	12: 36,440,467 (GRCm39)	H125L	probably damaging	Het
Cryzl1	G	T	16: 91,496,175 (GRCm39)	A1E	possibly damaging	Het
Csnk1a1	T	C	18: 61,709,618 (GRCm39)	Y213H	probably damaging	Het
Cspg4	A	G	9: 56,805,375 (GRCm39)	Q2062R	probably benign	Het
Ctnnal1	A	G	4: 56,835,348 (GRCm39)	C310R	probably benign	Het
D630003M21Rik	T	C	2: 158,042,228 (GRCm39)	E906G	probably benign	Het
D930048N14Rik	T	C	11: 51,545,755 (GRCm39)		probably benign	Het
Dag1	G	A	9: 108,085,684 (GRCm39)	P486S	possibly damaging	Het
Dgkq	A	G	5: 108,804,361 (GRCm39)	L33P	probably benign	Het
Dlc1	C	T	8: 37,051,164 (GRCm39)	G856R	probably damaging	Het
Dst	T	A	1: 34,258,612 (GRCm39)		probably benign	Het
Dtl	A	T	1: 191,301,819 (GRCm39)	Y79*	probably null	Het
Egfr	T	G	11: 16,822,855 (GRCm39)	L406R	probably damaging	Het
Elp3	A	T	14: 65,800,695 (GRCm39)		probably null	Het
Fbxw19	C	A	9: 109,310,621 (GRCm39)		probably null	Het
Frs2	T	C	10: 116,910,570 (GRCm39)	E264G	possibly damaging	Het
Fscn2	G	T	11: 120,252,706 (GRCm39)	V58L	probably damaging	Het
Gm17324	G	A	9: 78,356,007 (GRCm39)		probably benign	Het
Gm4787	A	T	12: 81,425,086 (GRCm39)	N357K	probably benign	Het
Gm9956	G	T	10: 56,621,291 (GRCm39)			Het
Gsg1l	C	T	7: 125,619,795 (GRCm39)		probably null	Het
Herc1	G	A	9: 66,352,927 (GRCm39)	V2138M	possibly damaging	Het
Htr2a	T	C	14: 74,943,764 (GRCm39)	L448P	probably benign	Het
Ing3	C	T	6: 21,970,034 (GRCm39)	S255L	probably damaging	Het
Krt78	T	C	15: 101,859,384 (GRCm39)	D271G	probably damaging	Het
Lmbrd2	T	A	15: 9,194,816 (GRCm39)	L606H	probably damaging	Het
Lmod1	T	A	1: 135,252,906 (GRCm39)	N53K	probably damaging	Het
Lsr	G	C	7: 30,657,763 (GRCm39)	A467G	probably benign	Het
Mbtd1	T	A	11: 93,823,038 (GRCm39)		probably null	Het
Mill1	T	A	7: 17,998,802 (GRCm39)	Y337*	probably null	Het
Mon2	C	T	10: 122,874,515 (GRCm39)	V278M	probably damaging	Het
Mxra8	A	C	4: 155,926,190 (GRCm39)	M180L	probably benign	Het
Myo18a	A	T	11: 77,702,420 (GRCm39)		probably benign	Het
Myo1c	T	G	11: 75,556,657 (GRCm39)		probably null	Het
Myo1g	T	C	11: 6,460,203 (GRCm39)	T782A	probably benign	Het
Ncapd3	A	G	9: 26,975,401 (GRCm39)		probably benign	Het
Neb	T	C	2: 52,198,699 (GRCm39)	D414G	probably damaging	Het
Nedd4l	T	A	18: 65,328,256 (GRCm39)		probably benign	Het
Nf2	T	C	11: 4,741,185 (GRCm39)	K343R	possibly damaging	Het
Nfasc	A	T	1: 132,531,584 (GRCm39)	D733E	possibly damaging	Het
Nolc1	G	A	19: 46,072,598 (GRCm39)	D699N	probably damaging	Het
Nrbp2	C	T	15: 75,960,825 (GRCm39)	A45T	probably benign	Het
Obscn	A	G	11: 58,952,348 (GRCm39)	V3907A	possibly damaging	Het
Or2b6	A	T	13: 21,823,119 (GRCm39)	D191E	probably benign	Het
Or2y6	T	C	11: 52,104,576 (GRCm39)	Q80R	possibly damaging	Het
Or8b8	A	T	9: 37,809,351 (GRCm39)	Y217F	probably damaging	Het
Pank2	C	T	2: 131,124,526 (GRCm39)	T290I	probably damaging	Het
Pbx4	T	C	8: 70,317,529 (GRCm39)	V171A	probably benign	Het
Pcgf1	G	T	6: 83,057,555 (GRCm39)	V75F	probably damaging	Het
Pik3ca	T	C	3: 32,515,660 (GRCm39)	S778P	probably damaging	Het
Pld6	T	C	11: 59,676,047 (GRCm39)	I141M	probably damaging	Het
Polq	T	A	16: 36,914,864 (GRCm39)	V2508E	probably damaging	Het
Prkca	C	G	11: 107,905,202 (GRCm39)	D179H	possibly damaging	Het
Pspn	T	C	17: 57,306,720 (GRCm39)	S70G	probably damaging	Het
Ptchd4	C	T	17: 42,814,637 (GRCm39)	T846I	probably benign	Het
Reg3g	A	C	6: 78,444,827 (GRCm39)	Y50*	probably null	Het
Rev3l	C	T	10: 39,704,139 (GRCm39)	H2062Y	probably benign	Het
Rsph4a	C	T	10: 33,788,987 (GRCm39)	Q611*	probably null	Het
Scart1	C	A	7: 139,804,873 (GRCm39)	C625*	probably null	Het
Scgb1b20	G	A	7: 33,072,739 (GRCm39)		probably null	Het
Sfxn5	T	C	6: 85,246,955 (GRCm39)		probably benign	Het
Sh3tc1	T	A	5: 35,857,651 (GRCm39)	Q1179L	possibly damaging	Het
Skint11	A	G	4: 114,051,762 (GRCm39)	I37V	probably benign	Het
Slc35f5	T	C	1: 125,503,906 (GRCm39)		probably benign	Het
Slc8a2	A	C	7: 15,891,264 (GRCm39)	D768A	probably damaging	Het
Slco6b1	A	G	1: 96,924,909 (GRCm39)		noncoding transcript	Het
Smurf2	T	A	11: 106,726,931 (GRCm39)	T453S	probably benign	Het
Spag16	A	G	1: 70,532,927 (GRCm39)		probably benign	Het
Spindoc	G	A	19: 7,351,509 (GRCm39)	T205I	probably benign	Het
Stab1	T	C	14: 30,870,902 (GRCm39)	I1316V	probably benign	Het
Stox2	T	C	8: 47,646,900 (GRCm39)	R187G	probably damaging	Het
Tcea2	A	C	2: 181,326,274 (GRCm39)	T93P	probably benign	Het
Tenm4	T	C	7: 96,544,830 (GRCm39)	M2311T	probably benign	Het
Tmem63a	A	G	1: 180,788,026 (GRCm39)	Q260R	probably benign	Het
Tnpo2	A	T	8: 85,780,158 (GRCm39)	H698L	probably benign	Het
Trim33	A	G	3: 103,217,700 (GRCm39)	D215G	probably damaging	Het
Ttc3	T	A	16: 94,227,071 (GRCm39)	I727N	probably damaging	Het
Ttn	T	A	2: 76,773,669 (GRCm39)	K2271N	probably damaging	Het
Ubr2	T	A	17: 47,297,705 (GRCm39)	K223*	probably null	Het
Ubr4	A	G	4: 139,144,186 (GRCm39)	M1410V	possibly damaging	Het
Ugt2b35	T	C	5: 87,151,271 (GRCm39)		probably benign	Het
Ulk4	T	A	9: 120,981,391 (GRCm39)	H880L	probably benign	Het
Unc80	G	A	1: 66,661,633 (GRCm39)	C1686Y	possibly damaging	Het
Upf2	T	A	2: 5,962,478 (GRCm39)	L60Q	unknown	Het
Usf2	A	T	7: 30,654,161 (GRCm39)		probably benign	Het
Usp21	T	A	1: 171,110,586 (GRCm39)		probably benign	Het
Usp21	T	A	1: 171,110,588 (GRCm39)		probably benign	Het
Vmn2r118	T	A	17: 55,917,970 (GRCm39)	K181*	probably null	Het
Vmn2r124	T	A	17: 18,293,991 (GRCm39)	S693T	possibly damaging	Het
Vmn2r76	C	A	7: 85,877,987 (GRCm39)	G470V	probably benign	Het
Vps13c	A	C	9: 67,838,017 (GRCm39)	I1856L	probably benign	Het
Vps50	C	T	6: 3,520,210 (GRCm39)	L119F	probably damaging	Het
Wdfy3	T	A	5: 102,038,655 (GRCm39)	S2012C	probably damaging	Het
Zfp1008	A	C	13: 62,753,029 (GRCm39)	V99G	possibly damaging	Het
Zfp142	A	G	1: 74,610,714 (GRCm39)	V924A	probably damaging	Het
Zfp217	C	T	2: 169,957,382 (GRCm39)	A539T	probably benign	Het
Zfp235	T	C	7: 23,841,644 (GRCm39)	S688P	probably damaging	Het
Zfp39	C	T	11: 58,780,813 (GRCm39)	V650I	probably benign	Het
Zfp82	A	T	7: 29,756,265 (GRCm39)	N272K	probably damaging	Het
Zfyve21	A	C	12: 111,789,698 (GRCm39)	D54A	possibly damaging	Het
Zfyve26	C	T	12: 79,291,258 (GRCm39)	D2116N	probably damaging	Het

Other mutations in Mlxipl

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00771:Mlxipl	APN	5	135,161,632 (GRCm39)	missense	probably damaging	0.98
IGL01872:Mlxipl	APN	5	135,142,545 (GRCm39)	missense	probably damaging	1.00
IGL02694:Mlxipl	APN	5	135,152,872 (GRCm39)	critical splice donor site	probably null
IGL03070:Mlxipl	APN	5	135,161,307 (GRCm39)	missense	possibly damaging	0.93
Scarlet	UTSW	5	135,162,884 (GRCm39)	missense	possibly damaging	0.93
H8441:Mlxipl	UTSW	5	135,152,815 (GRCm39)	missense	probably damaging	1.00
IGL03054:Mlxipl	UTSW	5	135,162,110 (GRCm39)	missense	possibly damaging	0.83
R0003:Mlxipl	UTSW	5	135,162,043 (GRCm39)	unclassified	probably benign
R0126:Mlxipl	UTSW	5	135,161,177 (GRCm39)	missense	probably damaging	0.96
R0458:Mlxipl	UTSW	5	135,162,224 (GRCm39)	missense	probably benign	0.33
R0580:Mlxipl	UTSW	5	135,152,829 (GRCm39)	missense	probably benign	0.01
R0744:Mlxipl	UTSW	5	135,161,329 (GRCm39)	missense	possibly damaging	0.86
R0827:Mlxipl	UTSW	5	135,161,592 (GRCm39)	missense	probably benign	0.00
R1052:Mlxipl	UTSW	5	135,142,564 (GRCm39)	missense	probably damaging	1.00
R1241:Mlxipl	UTSW	5	135,161,572 (GRCm39)	missense	probably benign	0.01
R1795:Mlxipl	UTSW	5	135,136,024 (GRCm39)	missense	probably damaging	1.00
R1903:Mlxipl	UTSW	5	135,162,422 (GRCm39)	missense	possibly damaging	0.92
R2038:Mlxipl	UTSW	5	135,135,853 (GRCm39)	missense	probably damaging	1.00
R2064:Mlxipl	UTSW	5	135,161,631 (GRCm39)	missense	possibly damaging	0.77
R2069:Mlxipl	UTSW	5	135,135,859 (GRCm39)	missense	probably damaging	1.00
R2081:Mlxipl	UTSW	5	135,142,492 (GRCm39)	missense	probably damaging	1.00
R2095:Mlxipl	UTSW	5	135,150,974 (GRCm39)	splice site	probably benign
R3114:Mlxipl	UTSW	5	135,162,516 (GRCm39)	splice site	probably benign
R4018:Mlxipl	UTSW	5	135,161,526 (GRCm39)	missense	probably damaging	1.00
R4090:Mlxipl	UTSW	5	135,161,381 (GRCm39)	missense	probably benign	0.33
R4321:Mlxipl	UTSW	5	135,164,304 (GRCm39)	nonsense	probably null
R4414:Mlxipl	UTSW	5	135,166,253 (GRCm39)	unclassified	probably benign
R5706:Mlxipl	UTSW	5	135,162,458 (GRCm39)	missense	probably benign	0.33
R6088:Mlxipl	UTSW	5	135,162,884 (GRCm39)	missense	possibly damaging	0.93
R6508:Mlxipl	UTSW	5	135,157,474 (GRCm39)	missense	probably benign	0.03
R6704:Mlxipl	UTSW	5	135,166,094 (GRCm39)	critical splice acceptor site	probably null
R7060:Mlxipl	UTSW	5	135,161,169 (GRCm39)	missense	possibly damaging	0.88
R7095:Mlxipl	UTSW	5	135,162,884 (GRCm39)	missense	possibly damaging	0.93
R7128:Mlxipl	UTSW	5	135,162,705 (GRCm39)	missense	probably damaging	0.98
R7464:Mlxipl	UTSW	5	135,162,482 (GRCm39)	missense	probably benign	0.01
R7510:Mlxipl	UTSW	5	135,161,972 (GRCm39)	missense	possibly damaging	0.72
R7669:Mlxipl	UTSW	5	135,161,224 (GRCm39)	missense	possibly damaging	0.53
R7737:Mlxipl	UTSW	5	135,164,235 (GRCm39)	missense	possibly damaging	0.73
R7806:Mlxipl	UTSW	5	135,163,397 (GRCm39)	missense	possibly damaging	0.93
R7910:Mlxipl	UTSW	5	135,161,263 (GRCm39)	missense	possibly damaging	0.85
R8118:Mlxipl	UTSW	5	135,166,102 (GRCm39)	missense	possibly damaging	0.96
R8363:Mlxipl	UTSW	5	135,135,930 (GRCm39)	missense	probably benign	0.18
R8701:Mlxipl	UTSW	5	135,136,045 (GRCm39)	missense	possibly damaging	0.53
R8725:Mlxipl	UTSW	5	135,157,483 (GRCm39)	missense	probably benign	0.01
R9235:Mlxipl	UTSW	5	135,157,541 (GRCm39)	missense	possibly damaging	0.86
R9566:Mlxipl	UTSW	5	135,152,616 (GRCm39)	missense	possibly damaging	0.85
R9727:Mlxipl	UTSW	5	135,150,388 (GRCm39)	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- ctccctttcacagtcctacaGTTTAGC -3'
(R):5'- AGGAAACAGACCGACATCTCTCATCA -3'

Sequencing Primer
(F):5'- tcagaggttcagtccattatcaag -3'
(R):5'- CCCTCTGTTATTAAAGGGAGGTCC -3'

Posted On

2013-06-12