Incidental Mutation 'R4018:Mlxipl'
ID 312017
Institutional Source Beutler Lab
Gene Symbol Mlxipl
Ensembl Gene ENSMUSG00000005373
Gene Name MLX interacting protein-like
Synonyms ChREBP, WS-bHLH, bHLHd14, Wbscr14
MMRRC Submission 040848-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.532) question?
Stock # R4018 (G1)
Quality Score 211
Status Validated
Chromosome 5
Chromosomal Location 135118744-135167236 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 135161526 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Histidine at position 482 (Y482H)
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: Y482H

PolyPhen 2 Score 0.861 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000005507
Gene: ENSMUSG00000005373
AA Change: Y482H

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
HLH 19 73 1.14e-9 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000128691
AA Change: Y482H

PolyPhen 2 Score 0.861 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000121348
Gene: ENSMUSG00000005373
AA Change: Y482H

DomainStartEndE-ValueType
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: Y482H

PolyPhen 2 Score 0.861 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000114933
Gene: ENSMUSG00000005373
AA Change: Y482H

DomainStartEndE-ValueType
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: Y482H

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000144328
Gene: ENSMUSG00000005373
AA Change: Y482H

DomainStartEndE-ValueType
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: Y482H

PolyPhen 2 Score 0.861 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000122198
Gene: ENSMUSG00000005373
AA Change: Y482H

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
HLH 26 120 7.9e-4 SMART
Meta Mutation Damage Score 0.0741 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.4%
  • 10x: 96.6%
  • 20x: 92.4%
Validation Efficiency 100% (33/33)
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: 29 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aga A G 8: 53,976,226 (GRCm39) K319R probably benign Het
Brip1 G T 11: 86,029,677 (GRCm39) T619K possibly damaging Het
Cd300ld2 G T 11: 114,903,330 (GRCm39) probably benign Het
Cd300lg A G 11: 101,932,420 (GRCm39) R2G probably damaging Het
Celsr2 C T 3: 108,302,281 (GRCm39) V2616I possibly damaging Het
Cfap251 A G 5: 123,460,517 (GRCm39) I1160V probably benign Het
Edem3 C T 1: 151,680,577 (GRCm39) probably benign Het
Endou T A 15: 97,616,818 (GRCm39) K235M probably damaging Het
Gm5431 T A 11: 48,779,995 (GRCm39) N309I probably damaging Het
Il4 T A 11: 53,504,806 (GRCm39) probably benign Het
Iws1 C A 18: 32,203,205 (GRCm39) S27* probably null Het
Kdm5d T C Y: 910,441 (GRCm39) probably benign Het
Ldb3 T C 14: 34,274,128 (GRCm39) probably benign Het
Llgl2 A G 11: 115,738,438 (GRCm39) T284A probably benign Het
Maml1 A T 11: 50,156,611 (GRCm39) N521K probably damaging Het
Notch2 G T 3: 98,011,881 (GRCm39) C633F probably damaging Het
Oc90 T C 15: 65,759,457 (GRCm39) D232G probably benign Het
Or5b101 T C 19: 13,005,189 (GRCm39) E168G probably benign Het
Polr2a T C 11: 69,625,885 (GRCm39) Y1717C unknown Het
Prkca T A 11: 107,830,428 (GRCm39) I221F probably damaging Het
Rab3c T A 13: 110,220,728 (GRCm39) K144N probably damaging Het
Ryr2 T A 13: 11,933,300 (GRCm39) N57I probably damaging Het
Scyl3 A G 1: 163,764,068 (GRCm39) T145A possibly damaging Het
Septin4 G A 11: 87,475,947 (GRCm39) R162Q probably damaging Het
Slc25a39 A T 11: 102,295,850 (GRCm39) L127H probably damaging Het
Slc9a9 T C 9: 94,567,216 (GRCm39) V95A probably benign Het
Tsc2 T C 17: 24,844,255 (GRCm39) I279V probably damaging Het
Usp34 C T 11: 23,439,033 (GRCm39) P3532S possibly damaging Het
Vmn2r6 T C 3: 64,463,893 (GRCm39) I314V probably benign Het
Other mutations in Mlxipl
AlleleSourceChrCoordTypePredicted EffectPPH 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
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'- CCCCTCTTTGTTGCCAGAAG -3'
(R):5'- AGAGTCGCTTCCTCCCAGTATC -3'

Sequencing Primer
(F):5'- TGTTGCCAGAAGAATCTCTCC -3'
(R):5'- CCTGAGCAGCTGTGTAAGAC -3'
Posted On 2015-04-29