Mutagenetix > Incidental Mutation

Incidental Mutation 'R7060:Mlxipl'

548177

Institutional Source

Beutler Lab

Gene Symbol

Mlxipl

Ensembl Gene

ENSMUSG00000005373

Gene Name

MLX interacting protein-like

Synonyms

ChREBP, WS-bHLH, bHLHd14, Wbscr14

MMRRC Submission

045157-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.532) question?

Stock #

R7060 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

135118744-135167236 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 135161169 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Threonine at position 363 (A363T)

Ref Sequence

ENSEMBL: ENSMUSP00000114933 (fasta)

Gene Model

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

AlphaFold

Q99MZ3

Predicted Effect

probably benign
Transcript: ENSMUST00000005507
AA Change: A363T

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

SMART Domains

Protein: ENSMUSP00000005507
Gene: ENSMUSG00000005373
AA Change: A363T

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

possibly damaging
Transcript: ENSMUST00000128691
AA Change: A363T

PolyPhen 2 Score 0.884 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000121348
Gene: ENSMUSG00000005373
AA Change: A363T

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

possibly damaging
Transcript: ENSMUST00000129008
AA Change: A363T

PolyPhen 2 Score 0.884 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000114933
Gene: ENSMUSG00000005373
AA Change: A363T

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

possibly damaging
Transcript: ENSMUST00000142385
AA Change: A363T

PolyPhen 2 Score 0.782 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000144328
Gene: ENSMUSG00000005373
AA Change: A363T

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
AA Change: A363T

PolyPhen 2 Score 0.066 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000122198
Gene: ENSMUSG00000005373
AA Change: A363T

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

0.0849

Coding Region Coverage

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

Validation Efficiency

96% (78/81)

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: 79 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcg4	T	A	9: 44,186,425 (GRCm39)	T535S	probably benign	Het
Adamts19	A	T	18: 58,970,712 (GRCm39)	R99*	probably null	Het
Alg6	C	T	4: 99,650,198 (GRCm39)	L473F	possibly damaging	Het
Ankar	A	T	1: 72,695,272 (GRCm39)	N893K	probably benign	Het
Ankrd54	G	A	15: 78,939,739 (GRCm39)	A183V	possibly damaging	Het
Anpep	G	T	7: 79,491,542 (GRCm39)	T153K	probably benign	Het
Arap1	A	G	7: 101,058,564 (GRCm39)		probably null	Het
Aspg	A	T	12: 112,089,387 (GRCm39)	T392S	probably benign	Het
B230307C23Rik	A	C	16: 97,811,331 (GRCm39)	R68S	probably benign	Het
Bdp1	G	C	13: 100,196,002 (GRCm39)	N1253K	probably damaging	Het
Ccrl2	G	A	9: 110,884,682 (GRCm39)	S272F	probably damaging	Het
Cdon	T	C	9: 35,398,205 (GRCm39)	L974P	probably damaging	Het
Celsr1	C	A	15: 85,916,856 (GRCm39)	E372D	probably benign	Het
Cers1	A	T	8: 70,768,555 (GRCm39)	M16L	possibly damaging	Het
Col2a1	G	T	15: 97,874,022 (GRCm39)	Q1387K	unknown	Het
Ddx39b	G	A	17: 35,471,726 (GRCm39)	V291M	probably damaging	Het
Dppa2	T	A	16: 48,136,076 (GRCm39)	S143T	probably benign	Het
Dpy19l1	A	T	9: 24,334,419 (GRCm39)	M583K	possibly damaging	Het
Eno3	A	T	11: 70,552,245 (GRCm39)	D299V	possibly damaging	Het
Epha8	C	T	4: 136,658,469 (GRCm39)	V969M	probably damaging	Het
Fcgbp	A	T	7: 27,791,358 (GRCm39)	H873L	probably benign	Het
Fhad1	CGG	CG	4: 141,645,602 (GRCm39)		probably null	Het
Fntb	A	C	12: 76,934,649 (GRCm39)	N173T	possibly damaging	Het
Gins2	T	A	8: 121,308,880 (GRCm39)	M125L	probably benign	Het
Gys1	G	A	7: 45,089,437 (GRCm39)	A199T	probably damaging	Het
Herpud1	C	A	8: 95,117,391 (GRCm39)	H116N	probably benign	Het
Hoga1	C	A	19: 42,048,685 (GRCm39)	Y134*	probably null	Het
Il10ra	A	G	9: 45,167,522 (GRCm39)	I343T	probably benign	Het
Inava	T	C	1: 136,147,935 (GRCm39)	K339R	possibly damaging	Het
Inpp5j	C	T	11: 3,450,133 (GRCm39)		probably null	Het
Itpkb	T	C	1: 180,160,695 (GRCm39)	S274P	probably damaging	Het
Kalrn	C	T	16: 34,177,418 (GRCm39)	C249Y	probably damaging	Het
Klhl35	G	C	7: 99,117,665 (GRCm39)	A70P	possibly damaging	Het
Lhx1	A	G	11: 84,411,108 (GRCm39)		probably null	Het
Lmbrd1	T	C	1: 24,732,047 (GRCm39)	V88A	probably benign	Het
Macc1	T	G	12: 119,411,190 (GRCm39)	L653V	probably damaging	Het
Madd	T	C	2: 91,007,452 (GRCm39)	D220G	probably damaging	Het
Mllt10	T	A	2: 18,164,371 (GRCm39)	H300Q	possibly damaging	Het
Mus81	G	T	19: 5,537,821 (GRCm39)	D78E	probably benign	Het
Mxd1	A	T	6: 86,630,141 (GRCm39)	L26M	probably damaging	Het
Nhsl1	C	T	10: 18,402,251 (GRCm39)	T1159M	probably damaging	Het
Nos1ap	A	G	1: 170,165,694 (GRCm39)	S190P	possibly damaging	Het
Nwd1	A	C	8: 73,393,322 (GRCm39)	D195A	probably damaging	Het
Or12d13	G	T	17: 37,647,352 (GRCm39)	T257N	probably benign	Het
Or6k4	A	T	1: 173,964,376 (GRCm39)	D22V	probably benign	Het
Or8c14-ps1	G	A	9: 38,101,392 (GRCm39)	V124I	probably damaging	Het
Or8k24	T	A	2: 86,216,569 (GRCm39)	R64S	possibly damaging	Het
Otof	T	C	5: 30,545,700 (GRCm39)	D500G	possibly damaging	Het
Pcgf5	T	A	19: 36,420,339 (GRCm39)	Y190*	probably null	Het
Pdcd11	C	T	19: 47,099,418 (GRCm39)	T839I	probably benign	Het
Ppard	G	C	17: 28,517,886 (GRCm39)	S318T	probably benign	Het
Ppfia2	A	G	10: 106,597,970 (GRCm39)	K178E	probably damaging	Het
Ppm1n	G	T	7: 19,013,187 (GRCm39)	R255S	probably damaging	Het
Ppp1r21	A	G	17: 88,887,972 (GRCm39)	Y693C	probably damaging	Het
Ppp2r5d	A	T	17: 46,998,279 (GRCm39)	V169E	possibly damaging	Het
Prc1	A	T	7: 79,954,121 (GRCm39)	T53S	probably benign	Het
Pwp2	A	C	10: 78,009,084 (GRCm39)		probably null	Het
Rab5c	G	A	11: 100,610,789 (GRCm39)	R40C	probably damaging	Het
Ring1	A	G	17: 34,242,364 (GRCm39)	C48R	probably damaging	Het
Rpap1	T	C	2: 119,604,043 (GRCm39)	D496G	probably damaging	Het
Rspo4	C	A	2: 151,714,998 (GRCm39)	Q212K	unknown	Het
Samd9l	T	A	6: 3,372,716 (GRCm39)	D1515V	probably damaging	Het
Serinc3	T	C	2: 163,478,879 (GRCm39)	T83A	probably benign	Het
Setd5	A	C	6: 113,094,343 (GRCm39)	D420A	probably damaging	Het
Sidt2	T	C	9: 45,864,544 (GRCm39)	T62A	possibly damaging	Het
Smarcal1	T	C	1: 72,652,101 (GRCm39)	V621A	probably damaging	Het
Srcin1	A	G	11: 97,464,711 (GRCm39)	L12P	probably damaging	Het
Stx18	G	A	5: 38,278,599 (GRCm39)	D165N	possibly damaging	Het
Sumf2	A	G	5: 129,883,341 (GRCm39)	K139E	possibly damaging	Het
Tdo2	A	T	3: 81,876,866 (GRCm39)	I102N	probably damaging	Het
Tdp1	T	A	12: 99,877,947 (GRCm39)	S410T	probably benign	Het
Tmem94	A	T	11: 115,683,764 (GRCm39)	I726F	probably damaging	Het
Ttc21a	A	G	9: 119,795,742 (GRCm39)	E1192G	probably damaging	Het
Ttc8	T	C	12: 98,909,726 (GRCm39)	I52T	probably benign	Het
Vmn2r99	A	T	17: 19,614,826 (GRCm39)	R849*	probably null	Het
Wwc1	T	C	11: 35,806,003 (GRCm39)	K77E	possibly damaging	Het
Xirp2	A	T	2: 67,345,952 (GRCm39)	E2731V	probably damaging	Het
Zfp1006	A	C	8: 129,945,613 (GRCm39)	I404R	probably benign	Het
Zfp423	G	A	8: 88,509,507 (GRCm39)	T258I	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
R0513:Mlxipl	UTSW	5	135,166,117 (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
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'- CACGGCTGTACATGAGGTTG -3'
(R):5'- AGAGAGGAGAGATTCTTCTGGC -3'

Sequencing Primer
(F):5'- ACGGCTGTACATGAGGTTGTAATTTC -3'
(R):5'- CGGAGCCATTGTGGGGAAG -3'

Posted On

2019-05-13