Mutagenetix > Incidental Mutation

Incidental Mutation 'R0827:Mlxipl'

78303

Institutional Source

Beutler Lab

Gene Symbol

Mlxipl

Ensembl Gene

ENSMUSG00000005373

Gene Name

MLX interacting protein-like

Synonyms

ChREBP, WS-bHLH, bHLHd14, Wbscr14

MMRRC Submission

039007-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.525) question?

Stock #

R0827 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

135118744-135167236 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 135161592 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 504 (S504P)

Ref Sequence

ENSEMBL: ENSMUSP00000144328 (fasta)

Gene Model

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

AlphaFold

Q99MZ3

Predicted Effect

probably benign
Transcript: ENSMUST00000005507
AA Change: S504P

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

SMART Domains

Protein: ENSMUSP00000005507
Gene: ENSMUSG00000005373
AA Change: S504P

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
AA Change: S504P

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

SMART Domains

Protein: ENSMUSP00000121348
Gene: ENSMUSG00000005373
AA Change: S504P

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
AA Change: S504P

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

SMART Domains

Protein: ENSMUSP00000114933
Gene: ENSMUSG00000005373
AA Change: S504P

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
AA Change: S504P

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

SMART Domains

Protein: ENSMUSP00000144328
Gene: ENSMUSG00000005373
AA Change: S504P

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: S504P

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

SMART Domains

Protein: ENSMUSP00000122198
Gene: ENSMUSG00000005373
AA Change: S504P

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

0.0898

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.1%
20x: 93.6%

Validation Efficiency

100% (88/88)

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: 86 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acan	T	C	7: 78,749,419 (GRCm39)	S1397P	probably benign	Het
Adamts15	T	C	9: 30,832,776 (GRCm39)	Y253C	probably damaging	Het
Ankk1	A	G	9: 49,333,037 (GRCm39)	I149T	possibly damaging	Het
Ankrd63	A	G	2: 118,533,034 (GRCm39)	S296P	possibly damaging	Het
Arpc1b	T	G	5: 145,062,566 (GRCm39)	C227G	probably benign	Het
B4gat1	A	G	19: 5,089,725 (GRCm39)	R241G	possibly damaging	Het
Ccar2	T	C	14: 70,377,287 (GRCm39)	N751D	probably benign	Het
Cd55b	T	C	1: 130,341,973 (GRCm39)	I221M	probably damaging	Het
Cntn5	A	G	9: 9,666,943 (GRCm39)	V1032A	possibly damaging	Het
Col11a1	G	A	3: 113,932,414 (GRCm39)	R113H	unknown	Het
Colec10	G	A	15: 54,325,980 (GRCm39)	C270Y	probably damaging	Het
Ctnnbl1	C	T	2: 157,641,337 (GRCm39)		probably benign	Het
Cyp2j12	T	G	4: 96,001,099 (GRCm39)		probably benign	Het
Dennd5a	G	A	7: 109,498,938 (GRCm39)	T999M	probably damaging	Het
Dusp13b	C	A	14: 21,792,839 (GRCm39)	V29L	probably benign	Het
Efr3a	A	C	15: 65,725,400 (GRCm39)	D83A	possibly damaging	Het
Elmod2	A	G	8: 84,043,424 (GRCm39)		probably null	Het
Eml3	C	A	19: 8,915,830 (GRCm39)	T640K	probably damaging	Het
Eps8l1	T	C	7: 4,480,388 (GRCm39)	V543A	possibly damaging	Het
Ermn	T	C	2: 57,938,263 (GRCm39)	K117E	probably damaging	Het
F830045P16Rik	A	G	2: 129,314,696 (GRCm39)	S194P	probably benign	Het
Faim2	A	G	15: 99,422,617 (GRCm39)	V60A	probably benign	Het
Fancd2	G	A	6: 113,563,210 (GRCm39)		probably null	Het
Fbxo43	A	T	15: 36,163,115 (GRCm39)	S31T	possibly damaging	Het
Gab2	G	A	7: 96,949,539 (GRCm39)	R411Q	probably damaging	Het
Gpm6a	A	T	8: 55,511,918 (GRCm39)	D264V	probably damaging	Het
H1f6	A	G	13: 23,880,204 (GRCm39)	D119G	probably benign	Het
Hsp90aa1	T	C	12: 110,659,129 (GRCm39)	E556G	probably benign	Het
Ifi203	A	T	1: 173,756,029 (GRCm39)		probably benign	Het
Iqca1	C	A	1: 90,070,453 (GRCm39)	G133V	probably null	Het
Kcnc3	A	G	7: 44,244,630 (GRCm39)	T307A	probably damaging	Het
Kin	C	A	2: 10,095,187 (GRCm39)		probably benign	Het
Knl1	T	C	2: 118,919,382 (GRCm39)		probably benign	Het
Lrp4	G	A	2: 91,325,386 (GRCm39)	V1404M	probably damaging	Het
Lrrc71	T	A	3: 87,649,952 (GRCm39)		probably null	Het
Med13l	T	C	5: 118,864,312 (GRCm39)		probably benign	Het
Mfap5	A	G	6: 122,497,879 (GRCm39)	D39G	probably damaging	Het
Myo3a	T	G	2: 22,448,227 (GRCm39)	Y1D	probably damaging	Het
Nek1	A	G	8: 61,558,682 (GRCm39)		probably benign	Het
Nfkbiz	T	C	16: 55,636,730 (GRCm39)	R524G	probably damaging	Het
Npbwr1	T	C	1: 5,987,008 (GRCm39)	T169A	possibly damaging	Het
Nuggc	T	C	14: 65,846,340 (GRCm39)	Y84H	probably damaging	Het
Nxph3	G	A	11: 95,402,252 (GRCm39)	S54L	probably benign	Het
Or13a21	A	G	7: 139,999,380 (GRCm39)	F102S	probably damaging	Het
Or9e1	T	C	11: 58,732,597 (GRCm39)	I219T	probably damaging	Het
Ostn	A	G	16: 27,143,381 (GRCm39)	N70D	probably damaging	Het
Pate7	A	T	9: 35,689,147 (GRCm39)	L12Q	probably damaging	Het
Pcdhb2	G	A	18: 37,428,710 (GRCm39)	V228I	possibly damaging	Het
Pnpla6	A	T	8: 3,567,618 (GRCm39)	M109L	possibly damaging	Het
Ppil6	T	A	10: 41,370,500 (GRCm39)		probably benign	Het
Prss46	A	G	9: 110,680,500 (GRCm39)	N215S	probably benign	Het
Ptprd	A	T	4: 76,047,152 (GRCm39)	D371E	probably damaging	Het
Ripor2	T	A	13: 24,878,169 (GRCm39)	F315I	probably damaging	Het
Rmi2	G	A	16: 10,653,104 (GRCm39)	G51S	probably damaging	Het
Scg3	A	G	9: 75,590,979 (GRCm39)	I10T	possibly damaging	Het
Scn9a	T	A	2: 66,366,468 (GRCm39)	K761*	probably null	Het
Scyl2	A	G	10: 89,493,727 (GRCm39)	L347P	possibly damaging	Het
Sh3d21	A	G	4: 126,046,064 (GRCm39)		probably benign	Het
Shc1	T	A	3: 89,334,090 (GRCm39)		probably null	Het
Slbp	A	G	5: 33,801,166 (GRCm39)	S182P	probably damaging	Het
Slc24a1	C	T	9: 64,835,472 (GRCm39)	G885D	probably benign	Het
Slc24a3	T	C	2: 145,360,412 (GRCm39)		probably benign	Het
Sowahb	T	G	5: 93,191,145 (GRCm39)	N525H	probably damaging	Het
Sppl3	T	A	5: 115,220,392 (GRCm39)	C101*	probably null	Het
Srsf5	A	G	12: 80,996,314 (GRCm39)	K163E	probably damaging	Het
Sult2a4	A	G	7: 13,718,886 (GRCm39)	I119T	probably benign	Het
Svep1	A	G	4: 58,053,113 (GRCm39)		probably benign	Het
Tas1r3	G	A	4: 155,945,326 (GRCm39)	R632W	probably benign	Het
Tlr4	T	A	4: 66,752,117 (GRCm39)		probably null	Het
Tmf1	A	C	6: 97,135,011 (GRCm39)	L1001*	probably null	Het
Tnnt2	A	G	1: 135,771,534 (GRCm39)		probably benign	Het
Trank1	G	A	9: 111,178,485 (GRCm39)		probably benign	Het
Trdn	A	T	10: 33,275,154 (GRCm39)		probably benign	Het
Trmt6	A	T	2: 132,657,754 (GRCm39)	V34E	probably damaging	Het
Trrap	T	C	5: 144,751,640 (GRCm39)	F1699L	probably benign	Het
Ttk	A	G	9: 83,725,968 (GRCm39)	R250G	probably benign	Het
Ttn	T	A	2: 76,640,248 (GRCm39)	I13787F	probably damaging	Het
Uggt1	T	A	1: 36,195,394 (GRCm39)		probably null	Het
Ugt2b35	T	A	5: 87,155,989 (GRCm39)		probably benign	Het
Ugt2b36	C	A	5: 87,214,234 (GRCm39)	R470L	possibly damaging	Het
Unk	A	G	11: 115,943,935 (GRCm39)	D352G	possibly damaging	Het
Vmn2r77	G	T	7: 86,451,224 (GRCm39)	C370F	probably damaging	Het
Vmn2r85	A	G	10: 130,265,387 (GRCm39)	I32T	possibly damaging	Het
Zfp637	A	G	6: 117,822,405 (GRCm39)	I178V	possibly damaging	Het
Zfp943	A	G	17: 22,211,071 (GRCm39)		probably null	Het
Zyg11a	A	G	4: 108,067,239 (GRCm39)		probably benign	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
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'- TGCCAGAAGAATCTCTCCTCTCTGC -3'
(R):5'- TGGAGTAAAGGCCCTAGACTGACC -3'

Sequencing Primer
(F):5'- CAGGTTCCCATTCACCTCAG -3'
(R):5'- CTATGAGGACCACTAGACTGGC -3'

Posted On

2013-10-16