Mutagenetix > Incidental Mutation

Incidental Mutation 'R2064:Mlxipl'

228960

Institutional Source

Beutler Lab

Gene Symbol

Mlxipl

Ensembl Gene

ENSMUSG00000005373

Gene Name

MLX interacting protein-like

Synonyms

ChREBP, WS-bHLH, bHLHd14, Wbscr14

MMRRC Submission

040069-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.525) question?

Stock #

R2064 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

135118744-135167236 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 135161631 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Serine at position 517 (T517S)

Ref Sequence

ENSEMBL: ENSMUSP00000144328 (fasta)

Gene Model

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

AlphaFold

Q99MZ3

Predicted Effect

possibly damaging
Transcript: ENSMUST00000005507
AA Change: T517S

PolyPhen 2 Score 0.528 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000005507
Gene: ENSMUSG00000005373
AA Change: T517S

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: T517S

PolyPhen 2 Score 0.528 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000121348
Gene: ENSMUSG00000005373
AA Change: T517S

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: T517S

PolyPhen 2 Score 0.528 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000114933
Gene: ENSMUSG00000005373
AA Change: T517S

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: T517S

PolyPhen 2 Score 0.770 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000144328
Gene: ENSMUSG00000005373
AA Change: T517S

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: T517S

PolyPhen 2 Score 0.528 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000122198
Gene: ENSMUSG00000005373
AA Change: T517S

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

0.0759

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.4%
20x: 95.3%

Validation Efficiency

99% (114/115)

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: 112 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933436I01Rik	T	A	X: 66,964,308 (GRCm39)	I184L	probably benign	Het
9530002B09Rik	T	A	4: 122,583,115 (GRCm39)		probably benign	Het
Actr1b	A	G	1: 36,741,168 (GRCm39)	F138L	possibly damaging	Het
Adamts14	G	T	10: 61,041,301 (GRCm39)	P803Q	probably benign	Het
Afap1l1	A	T	18: 61,872,193 (GRCm39)		probably null	Het
Akt3	A	G	1: 176,930,551 (GRCm39)	S136P	possibly damaging	Het
Aldh16a1	C	T	7: 44,796,585 (GRCm39)		probably null	Het
Alg12	A	G	15: 88,696,318 (GRCm39)	W238R	probably damaging	Het
Amy2a1	T	C	3: 113,324,217 (GRCm39)	I108V	probably benign	Het
Arhgap23	T	A	11: 97,383,888 (GRCm39)	C1144S	probably benign	Het
Arhgef40	G	A	14: 52,233,640 (GRCm39)	V829M	probably damaging	Het
Atg7	C	A	6: 114,680,324 (GRCm39)	N344K	probably damaging	Het
Aunip	T	A	4: 134,250,618 (GRCm39)	S188T	probably benign	Het
Bmpr1b	A	T	3: 141,576,568 (GRCm39)	H88Q	probably benign	Het
Brpf3	G	A	17: 29,040,338 (GRCm39)	G920S	probably benign	Het
Cdc123	C	T	2: 5,800,354 (GRCm39)		probably benign	Het
Cdhr1	T	C	14: 36,817,062 (GRCm39)	R100G	probably benign	Het
Cdkn2d	A	G	9: 21,202,175 (GRCm39)	V24A	probably damaging	Het
Cirbp	T	C	10: 80,006,166 (GRCm39)		probably benign	Het
Clptm1l	C	T	13: 73,755,842 (GRCm39)	Q153*	probably null	Het
Col12a1	A	G	9: 79,569,736 (GRCm39)		probably benign	Het
Cplane1	T	A	15: 8,215,649 (GRCm39)	S402T	probably damaging	Het
Cpox	T	A	16: 58,494,772 (GRCm39)	C270S	probably benign	Het
Cspg4	A	G	9: 56,803,940 (GRCm39)	D1677G	probably damaging	Het
Cyp4a10	T	A	4: 115,381,917 (GRCm39)		probably benign	Het
Dctn4	T	C	18: 60,671,349 (GRCm39)	F74L	possibly damaging	Het
Dennd5a	G	A	7: 109,497,900 (GRCm39)		probably benign	Het
Dnaaf3	T	C	7: 4,526,798 (GRCm39)	I426M	possibly damaging	Het
Dnah9	C	T	11: 66,036,261 (GRCm39)	S185N	probably benign	Het
Dqx1	T	G	6: 83,035,524 (GRCm39)		probably benign	Het
Dtx2	C	T	5: 136,059,431 (GRCm39)	S493F	probably damaging	Het
Ehd1	T	C	19: 6,348,108 (GRCm39)	L362P	probably benign	Het
Endov	T	C	11: 119,390,408 (GRCm39)	F12S	probably damaging	Het
Ep400	A	C	5: 110,883,270 (GRCm39)		probably benign	Het
Epha1	G	T	6: 42,342,987 (GRCm39)	H187Q	probably benign	Het
Exoc2	T	C	13: 31,119,544 (GRCm39)	D119G	probably benign	Het
Fbn2	C	T	18: 58,181,921 (GRCm39)	E1827K	probably damaging	Het
Fbxo41	C	T	6: 85,455,453 (GRCm39)	W577*	probably null	Het
Fgd6	G	A	10: 93,880,903 (GRCm39)	A586T	probably damaging	Het
Gm12695	T	C	4: 96,657,963 (GRCm39)	T69A	probably benign	Het
Gm12888	A	T	4: 121,182,069 (GRCm39)	W8R	unknown	Het
Gm2959	A	G	14: 42,235,658 (GRCm39)		noncoding transcript	Het
Gm6214	A	G	3: 140,544,978 (GRCm39)		noncoding transcript	Het
Gm9912	T	C	3: 148,890,795 (GRCm39)	T113A	unknown	Het
Gmeb2	A	G	2: 180,895,763 (GRCm39)	L469P	probably benign	Het
Gosr1	T	C	11: 76,628,224 (GRCm39)	I177V	probably benign	Het
Gria1	T	C	11: 57,208,534 (GRCm39)	F810L	probably damaging	Het
Gtf2ird2	C	T	5: 134,245,340 (GRCm39)	Q533*	probably null	Het
Hadhb	T	A	5: 30,378,796 (GRCm39)		probably null	Het
Hat1	A	T	2: 71,240,504 (GRCm39)	Y66F	possibly damaging	Het
Hk1	T	C	10: 62,122,315 (GRCm39)	Y488C	probably benign	Het
Htt	C	T	5: 34,983,326 (GRCm39)	T975I	probably benign	Het
Ifnb1	T	A	4: 88,440,996 (GRCm39)	I6F	possibly damaging	Het
Il19	T	C	1: 130,866,854 (GRCm39)	H42R	probably benign	Het
Il2rg	A	G	X: 100,311,416 (GRCm39)	L57P	possibly damaging	Het
Impg2	G	A	16: 56,063,993 (GRCm39)		probably null	Het
Invs	T	A	4: 48,396,287 (GRCm39)	L320Q	probably damaging	Het
Itga9	T	C	9: 118,636,361 (GRCm39)	F683S	probably damaging	Het
Itih2	A	G	2: 10,135,385 (GRCm39)	S2P	possibly damaging	Het
Itpr3	G	A	17: 27,317,050 (GRCm39)	M768I	probably benign	Het
Kcnab1	A	G	3: 65,272,060 (GRCm39)	E315G	probably benign	Het
Kcnmb2	A	C	3: 32,252,437 (GRCm39)	I213L	probably damaging	Het
Khdc1a	T	A	1: 21,421,196 (GRCm39)	M127K	probably benign	Het
Klhl28	T	C	12: 64,990,246 (GRCm39)	N565S	probably benign	Het
Lcp1	A	G	14: 75,435,515 (GRCm39)		probably null	Het
Mcm4	T	C	16: 15,452,333 (GRCm39)	T267A	possibly damaging	Het
Mpp3	T	A	11: 101,891,516 (GRCm39)	I541L	probably benign	Het
Mpp4	G	A	1: 59,182,941 (GRCm39)	P322L	possibly damaging	Het
Myh15	G	A	16: 48,975,984 (GRCm39)	A1351T	possibly damaging	Het
Nacc1	A	T	8: 85,399,747 (GRCm39)	M490K	probably benign	Het
Nbeal1	C	A	1: 60,309,515 (GRCm39)	Q496K	possibly damaging	Het
Oas1g	T	C	5: 121,023,946 (GRCm39)	E121G	probably damaging	Het
Or14j1	T	A	17: 38,145,893 (GRCm39)	M1K	probably null	Het
Pard3	T	C	8: 128,337,092 (GRCm39)	L1236P	probably damaging	Het
Phc2	T	C	4: 128,640,929 (GRCm39)	F672S	probably damaging	Het
Phf21a	C	A	2: 92,157,422 (GRCm39)	N183K	possibly damaging	Het
Plxnb3	T	A	X: 72,815,357 (GRCm39)	Y1845*	probably null	Het
Prl3c1	G	A	13: 27,380,720 (GRCm39)		probably null	Het
Prl7a2	T	A	13: 27,844,870 (GRCm39)	Y172F	probably damaging	Het
Psg16	T	G	7: 16,827,673 (GRCm39)	S210A	possibly damaging	Het
Psg25	T	A	7: 18,255,178 (GRCm39)	K446M	probably damaging	Het
Ptprz1	A	G	6: 23,050,388 (GRCm39)		probably benign	Het
Rgs7	A	T	1: 174,949,508 (GRCm39)	F160L	probably damaging	Het
Rpl22l1	A	T	3: 28,860,957 (GRCm39)	E57D	possibly damaging	Het
Rpl35	A	G	2: 38,894,753 (GRCm39)	L44P	possibly damaging	Het
Rtn4r	T	C	16: 17,969,121 (GRCm39)	L183P	probably damaging	Het
Skint1	T	A	4: 111,882,730 (GRCm39)	V258D	probably benign	Het
Slc4a7	G	A	14: 14,733,773 (GRCm38)	R67H	probably damaging	Het
Smg1	C	T	7: 117,756,090 (GRCm39)		probably benign	Het
Smurf2	T	C	11: 106,762,374 (GRCm39)	T39A	probably damaging	Het
Sspo	A	T	6: 48,450,596 (GRCm39)	D2595V	probably damaging	Het
Tatdn2	A	G	6: 113,681,103 (GRCm39)	K379E	probably benign	Het
Tbc1d14	G	A	5: 36,680,274 (GRCm39)	R68*	probably null	Het
Tgm1	A	G	14: 55,946,928 (GRCm39)	I360T	probably damaging	Het
Thrap3	T	C	4: 126,069,189 (GRCm39)	Y654C	possibly damaging	Het
Traf1	A	T	2: 34,838,202 (GRCm39)	I212N	probably benign	Het
Ttc17	C	A	2: 94,196,892 (GRCm39)	W485L	probably damaging	Het
Ttn	C	A	2: 76,768,675 (GRCm39)	V2920F	probably damaging	Het
Tyr	T	C	7: 87,142,051 (GRCm39)	I93V	probably benign	Het
Ubap2	C	T	4: 41,199,872 (GRCm39)	A752T	probably benign	Het
Vmn1r212	A	G	13: 23,068,285 (GRCm39)	V16A	probably benign	Het
Vmn1r55	A	G	7: 5,150,048 (GRCm39)	V125A	possibly damaging	Het
Vmn2r120	T	A	17: 57,831,553 (GRCm39)	H412L	possibly damaging	Het
Xirp1	T	C	9: 119,845,962 (GRCm39)	I974V	probably benign	Het
Zap70	A	G	1: 36,818,215 (GRCm39)	T301A	probably benign	Het
Zfhx4	A	G	3: 5,463,987 (GRCm39)	K1382E	probably damaging	Het
Zfp280b	T	A	10: 75,875,017 (GRCm39)	C299S	probably damaging	Het
Zfp352	C	T	4: 90,113,357 (GRCm39)	S499L	probably benign	Het
Zfp423	G	A	8: 88,507,986 (GRCm39)	A661V	probably benign	Het
Zfp57	T	A	17: 37,320,568 (GRCm39)	F141I	possibly damaging	Het
Zfp946	A	T	17: 22,674,446 (GRCm39)	H400L	probably damaging	Het
Zgrf1	T	C	3: 127,406,999 (GRCm39)	C1589R	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
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'- AGGAGTGTCTACGCTTCCTG -3'
(R):5'- TGTCAGACATAGCTCACATCC -3'

Sequencing Primer
(F):5'- GCACCCACAACCTTTGTCC -3'
(R):5'- GTCTCCCAAGACCACCCTGAG -3'

Posted On

2014-09-17