Mutagenetix > Incidental Mutation

Incidental Mutation 'R8701:Mlxipl'

669059

Institutional Source

Beutler Lab

Gene Symbol

Mlxipl

Ensembl Gene

ENSMUSG00000005373

Gene Name

MLX interacting protein-like

Synonyms

WS-bHLH, Wbscr14, bHLHd14, ChREBP

MMRRC Submission

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.337) question?

Stock #

R8701 (G1)

Quality Score

134.008

Status

Not validated

Chromosome

Chromosomal Location

135089890-135138382 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 135107191 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Serine at position 90 (F90S)

Ref Sequence

ENSEMBL: ENSMUSP00000005507 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000005507] [ENSMUST00000128691] [ENSMUST00000129008] [ENSMUST00000142385] [ENSMUST00000153519] [ENSMUST00000201977]

AlphaFold

Q99MZ3

Predicted Effect

possibly damaging
Transcript: ENSMUST00000005507
AA Change: F90S

PolyPhen 2 Score 0.533 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000005507
Gene: ENSMUSG00000005373
AA Change: F90S

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 damaging
Transcript: ENSMUST00000128691
AA Change: F90S

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

SMART Domains

Protein: ENSMUSP00000121348
Gene: ENSMUSG00000005373
AA Change: F90S

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 damaging
Transcript: ENSMUST00000129008
AA Change: F90S

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000114933
Gene: ENSMUSG00000005373
AA Change: F90S

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 damaging
Transcript: ENSMUST00000142385
AA Change: F90S

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

SMART Domains

Protein: ENSMUSP00000144328
Gene: ENSMUSG00000005373
AA Change: F90S

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: ENSMUST00000153519
AA Change: F90S

PolyPhen 2 Score 0.787 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000122198
Gene: ENSMUSG00000005373
AA Change: F90S

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

possibly damaging
Transcript: ENSMUST00000201977
AA Change: F90S

PolyPhen 2 Score 0.533 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000144299
Gene: ENSMUSG00000005373
AA Change: F90S

Domain	Start	End	E-Value	Type
low complexity region	19	34	N/A	INTRINSIC
PDB:4GNT\|B	117	137	2e-6	PDB

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.8%

Validation Efficiency

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: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4931408C20Rik	A	T	1: 26,685,445	V218D	probably benign	Het
Abcc4	T	C	14: 118,599,373	I659V	probably benign	Het
Adamtsl4	T	A	3: 95,684,966	D24V	possibly damaging	Het
Agtr1b	A	T	3: 20,316,092	F117I	probably damaging	Het
Aldh3b2	A	G	19: 3,978,448	E116G	probably damaging	Het
Alox5	T	A	6: 116,413,826	I455F	possibly damaging	Het
Arnt	C	T	3: 95,493,765	S675F	possibly damaging	Het
C330027C09Rik	T	A	16: 49,007,141	Y456*	probably null	Het
Camkv	A	G	9: 107,948,041	T414A	possibly damaging	Het
Cd209c	C	T	8: 3,945,892	R6H	probably benign	Het
Cnr1	A	G	4: 33,944,739	I376V	probably benign	Het
Cyp2j12	T	A	4: 96,121,573	K183M	possibly damaging	Het
Dact3	G	T	7: 16,885,276	R232L	probably damaging	Het
Dlg5	G	A	14: 24,176,700	T378M	probably benign	Het
Dnah10	T	A	5: 124,726,847	D79E	probably benign	Het
Dsc1	A	T	18: 20,107,682	Y195*	probably null	Het
Elovl1	A	T	4: 118,430,510	M1L	probably benign	Het
Fam107a	A	G	14: 8,298,755	F124L	probably damaging	Het
Fam219a	A	G	4: 41,520,283	M155T	probably damaging	Het
Gm28308	C	G	6: 52,163,450		probably benign	Het
Gpr153	C	T	4: 152,279,101		probably benign	Het
Gtf2ird2	T	A	5: 134,216,235	I445N	probably damaging	Het
Gzmb	A	T	14: 56,260,360	V141E	probably benign	Het
Hmcn1	A	T	1: 150,755,257	M930K	probably benign	Het
Hunk	T	A	16: 90,386,610	F52Y	probably damaging	Het
Il18rap	A	G	1: 40,539,341	E304G	probably benign	Het
Klk14	A	G	7: 43,694,142	S133G	possibly damaging	Het
Man2b1	T	C	8: 85,095,153	S695P	probably damaging	Het
Mccc1	A	T	3: 35,995,784	D86E	probably benign	Het
Mcu	T	A	10: 59,467,653	I121F	probably damaging	Het
Muc2	A	G	7: 141,695,607	D536G	probably damaging	Het
Naa11	T	C	5: 97,391,958	S114G	possibly damaging	Het
Ncaph	T	C	2: 127,106,138	K676E	probably benign	Het
Neurl2	C	T	2: 164,833,134	D103N	probably benign	Het
Nup210l	T	C	3: 90,122,814	M278T	probably benign	Het
Olfr1192-ps1	A	G	2: 88,652,487	I112V	possibly damaging	Het
Olfr550	A	T	7: 102,578,692	M66L	possibly damaging	Het
Olfr897-ps1	A	T	9: 38,309,438	L214F	unknown	Het
Olfr967	A	T	9: 39,750,914	H176L	probably damaging	Het
Olfr981	A	G	9: 40,022,519	N42S	probably damaging	Het
Pcdh20	A	T	14: 88,468,413	Y484N	possibly damaging	Het
Pkhd1l1	A	G	15: 44,574,683	Y3598C	probably damaging	Het
Plcg2	T	A	8: 117,581,677	L336Q	probably damaging	Het
Ppp1r8	T	C	4: 132,830,642	D207G	possibly damaging	Het
Prdm13	C	T	4: 21,678,615	C625Y	probably damaging	Het
Ptcd3	T	C	6: 71,885,511	D480G	possibly damaging	Het
Rbm39	T	A	2: 156,161,587	K291M	probably damaging	Het
Repin1	G	T	6: 48,597,345	E403*	probably null	Het
Rnf220	T	C	4: 117,489,993	H74R	probably damaging	Het
Sp6	A	T	11: 97,022,264	T268S	probably damaging	Het
Sphk2	A	T	7: 45,710,825	V585E	probably damaging	Het
Syne1	G	A	10: 5,205,026	Q5638*	probably null	Het
Tas1r3	C	T	4: 155,861,046	V573I	probably benign	Het
Tdrd1	T	C	19: 56,851,484	S659P	possibly damaging	Het
Tead4	T	A	6: 128,242,566	K237N	probably damaging	Het
Tex24	T	A	8: 27,345,124	C227S	probably benign	Het
Tom1	A	T	8: 75,052,168	T174S	probably benign	Het
Tpm3	C	T	3: 90,087,680	R168C	possibly damaging	Het
Trpv3	A	G	11: 73,278,936	E111G	possibly damaging	Het
Unc80	A	G	1: 66,638,032	D2040G	possibly damaging	Het
Usp47	A	G	7: 112,093,195	T955A	probably damaging	Het
Vmn2r11	G	A	5: 109,047,690	A590V	probably damaging	Het
Wisp2	G	T	2: 163,828,866	G98W	probably damaging	Het
Zfp112	A	G	7: 24,125,740	R382G	probably damaging	Het
Zfp606	T	A	7: 12,481,098	D84E	unknown	Het

Other mutations in Mlxipl

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00771:Mlxipl	APN	5	135132778	missense	probably damaging	0.98
IGL01872:Mlxipl	APN	5	135113691	missense	probably damaging	1.00
IGL02694:Mlxipl	APN	5	135124018	critical splice donor site	probably null
IGL03070:Mlxipl	APN	5	135132453	missense	possibly damaging	0.93
Scarlet	UTSW	5	135134030	missense	possibly damaging	0.93
H8441:Mlxipl	UTSW	5	135123961	missense	probably damaging	1.00
IGL03054:Mlxipl	UTSW	5	135133256	missense	possibly damaging	0.83
R0003:Mlxipl	UTSW	5	135133189	unclassified	probably benign
R0126:Mlxipl	UTSW	5	135132323	missense	probably damaging	0.96
R0458:Mlxipl	UTSW	5	135133370	missense	probably benign	0.33
R0513:Mlxipl	UTSW	5	135137263	missense	probably benign	0.33
R0580:Mlxipl	UTSW	5	135123975	missense	probably benign	0.01
R0744:Mlxipl	UTSW	5	135132475	missense	possibly damaging	0.86
R0827:Mlxipl	UTSW	5	135132738	missense	probably benign	0.00
R1052:Mlxipl	UTSW	5	135113710	missense	probably damaging	1.00
R1241:Mlxipl	UTSW	5	135132718	missense	probably benign	0.01
R1795:Mlxipl	UTSW	5	135107170	missense	probably damaging	1.00
R1903:Mlxipl	UTSW	5	135133568	missense	possibly damaging	0.92
R2038:Mlxipl	UTSW	5	135106999	missense	probably damaging	1.00
R2064:Mlxipl	UTSW	5	135132777	missense	possibly damaging	0.77
R2069:Mlxipl	UTSW	5	135107005	missense	probably damaging	1.00
R2081:Mlxipl	UTSW	5	135113638	missense	probably damaging	1.00
R2095:Mlxipl	UTSW	5	135122120	splice site	probably benign
R3114:Mlxipl	UTSW	5	135133662	splice site	probably benign
R4018:Mlxipl	UTSW	5	135132672	missense	probably damaging	1.00
R4090:Mlxipl	UTSW	5	135132527	missense	probably benign	0.33
R4321:Mlxipl	UTSW	5	135135450	nonsense	probably null
R4414:Mlxipl	UTSW	5	135137399	unclassified	probably benign
R5706:Mlxipl	UTSW	5	135133604	missense	probably benign	0.33
R6088:Mlxipl	UTSW	5	135134030	missense	possibly damaging	0.93
R6508:Mlxipl	UTSW	5	135128620	missense	probably benign	0.03
R6704:Mlxipl	UTSW	5	135137240	critical splice acceptor site	probably null
R7060:Mlxipl	UTSW	5	135132315	missense	possibly damaging	0.88
R7095:Mlxipl	UTSW	5	135134030	missense	possibly damaging	0.93
R7128:Mlxipl	UTSW	5	135133851	missense	probably damaging	0.98
R7464:Mlxipl	UTSW	5	135133628	missense	probably benign	0.01
R7510:Mlxipl	UTSW	5	135133118	missense	possibly damaging	0.72
R7669:Mlxipl	UTSW	5	135132370	missense	possibly damaging	0.53
R7737:Mlxipl	UTSW	5	135135381	missense	possibly damaging	0.73
R7806:Mlxipl	UTSW	5	135134543	missense	possibly damaging	0.93
R7910:Mlxipl	UTSW	5	135132409	missense	possibly damaging	0.85
R8118:Mlxipl	UTSW	5	135137248	missense	possibly damaging	0.96
R8363:Mlxipl	UTSW	5	135107076	missense	probably benign	0.18
R8725:Mlxipl	UTSW	5	135128629	missense	probably benign	0.01
R9235:Mlxipl	UTSW	5	135128687	missense	possibly damaging	0.86
R9566:Mlxipl	UTSW	5	135123762	missense	possibly damaging	0.85
R9727:Mlxipl	UTSW	5	135121534	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- TATCCGTGAACTTGCAGGTC -3'
(R):5'- AATGATTCATGAGGGTCCGTG -3'

Sequencing Primer
(F):5'- TACGGACTTGGAGGATCCG -3'
(R):5'- TGGGTTGCGCAGGACCAG -3'

Posted On

2021-04-30