Incidental Mutation 'R1052:Mlxipl'
ID 94037
Institutional Source Beutler Lab
Gene Symbol Mlxipl
Ensembl Gene ENSMUSG00000005373
Gene Name MLX interacting protein-like
Synonyms ChREBP, WS-bHLH, bHLHd14, Wbscr14
MMRRC Submission 039142-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.532) question?
Stock # R1052 (G1)
Quality Score 225
Status Not validated
Chromosome 5
Chromosomal Location 135118744-135167236 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 135142564 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Asparagine at position 126 (I126N)
Ref Sequence ENSEMBL: ENSMUSP00000144299 (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: I126N

PolyPhen 2 Score 0.734 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000005507
Gene: ENSMUSG00000005373
AA Change: I126N

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 possibly damaging
Transcript: ENSMUST00000128691
AA Change: I126N

PolyPhen 2 Score 0.734 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000121348
Gene: ENSMUSG00000005373
AA Change: I126N

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: I126N

PolyPhen 2 Score 0.734 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000114933
Gene: ENSMUSG00000005373
AA Change: I126N

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 noncoding transcript
Transcript: ENSMUST00000141770
Predicted Effect probably damaging
Transcript: ENSMUST00000142385
AA Change: I126N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000144328
Gene: ENSMUSG00000005373
AA Change: I126N

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: I126N

PolyPhen 2 Score 0.734 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000122198
Gene: ENSMUSG00000005373
AA Change: I126N

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 damaging
Transcript: ENSMUST00000201977
AA Change: I126N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000144299
Gene: ENSMUSG00000005373
AA Change: I126N

DomainStartEndE-ValueType
low complexity region 19 34 N/A INTRINSIC
PDB:4GNT|B 117 137 2e-6 PDB
Predicted Effect noncoding transcript
Transcript: ENSMUST00000202431
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.3%
  • 10x: 96.3%
  • 20x: 92.6%
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: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abtb2 A T 2: 103,535,417 (GRCm39) Y528F possibly damaging Het
Acad10 G A 5: 121,787,604 (GRCm39) T115I possibly damaging Het
Adam19 T C 11: 46,018,092 (GRCm39) F385L probably damaging Het
Adgb T C 10: 10,318,357 (GRCm39) N162D probably benign Het
Arhgap20 C A 9: 51,757,570 (GRCm39) P521T probably damaging Het
Arsa A T 15: 89,359,380 (GRCm39) L134Q probably damaging Het
Atp5f1b A G 10: 127,925,921 (GRCm39) Y508C probably damaging Het
AW554918 G A 18: 25,553,067 (GRCm39) M287I probably benign Het
Bmp4 T C 14: 46,621,360 (GRCm39) K395E probably damaging Het
Cacna2d4 A G 6: 119,277,294 (GRCm39) Y669C probably damaging Het
Casq2 T C 3: 102,051,550 (GRCm39) probably null Het
Cdk5rap1 A T 2: 154,202,519 (GRCm39) I237N possibly damaging Het
Cerk G C 15: 86,033,565 (GRCm39) S286C possibly damaging Het
Cir1 A C 2: 73,117,987 (GRCm39) L186R probably damaging Het
Csf3r A T 4: 125,936,781 (GRCm39) probably null Het
Cyp3a41a A T 5: 145,642,621 (GRCm39) I246K possibly damaging Het
Cyp8b1 A G 9: 121,744,348 (GRCm39) F328S possibly damaging Het
Dzank1 A T 2: 144,355,365 (GRCm39) V110D probably benign Het
Gm6729 T A 10: 86,376,799 (GRCm39) noncoding transcript Het
Gnpat T C 8: 125,604,246 (GRCm39) F246L probably benign Het
Gnpat T A 8: 125,605,255 (GRCm39) L248H probably damaging Het
Gstm7 T C 3: 107,834,266 (GRCm39) T163A probably benign Het
Hspa5 A G 2: 34,665,110 (GRCm39) T424A probably damaging Het
Itgb1 T G 8: 129,439,786 (GRCm39) D158E probably damaging Het
Kif21a A G 15: 90,819,853 (GRCm39) V1637A probably benign Het
Kl G T 5: 150,905,985 (GRCm39) V452F probably damaging Het
Krt23 T C 11: 99,369,045 (GRCm39) N416S probably benign Het
Lama4 A T 10: 38,968,241 (GRCm39) H1461L possibly damaging Het
Lamc3 A G 2: 31,818,814 (GRCm39) T1180A probably benign Het
Mboat2 T C 12: 24,996,527 (GRCm39) Y145H probably damaging Het
Myo16 T A 8: 10,620,181 (GRCm39) N1577K possibly damaging Het
Nlrp4f A G 13: 65,332,897 (GRCm39) V87A possibly damaging Het
Or5al5 A G 2: 85,961,915 (GRCm39) F31L probably benign Het
Or6p1 A T 1: 174,258,701 (GRCm39) K236* probably null Het
Pask A T 1: 93,258,549 (GRCm39) D266E probably benign Het
Pcdhb17 A G 18: 37,619,899 (GRCm39) Y563C probably damaging Het
Pdlim3 T A 8: 46,349,837 (GRCm39) I49N probably damaging Het
Pla2g4c T A 7: 13,077,334 (GRCm39) V292E possibly damaging Het
Pramel23 T C 4: 143,423,477 (GRCm39) I437M possibly damaging Het
Prrt4 G T 6: 29,169,813 (GRCm39) Q880K possibly damaging Het
Pygb A G 2: 150,628,858 (GRCm39) D24G probably benign Het
R3hcc1l T A 19: 42,552,093 (GRCm39) D363E probably damaging Het
Rif1 A C 2: 52,001,574 (GRCm39) Q1676P probably benign Het
Ryr1 C A 7: 28,795,683 (GRCm39) R1069L probably damaging Het
Sdk2 C T 11: 113,729,472 (GRCm39) silent Het
Slc2a13 A G 15: 91,296,363 (GRCm39) V317A probably damaging Het
Slc35b4 A T 6: 34,138,619 (GRCm39) F197I probably damaging Het
Tchhl1 G A 3: 93,377,520 (GRCm39) V75I probably benign Het
Ubr4 T C 4: 139,182,771 (GRCm39) S3521P possibly damaging Het
Zbtb14 C A 17: 69,695,497 (GRCm39) F398L probably damaging Het
Zfp335 GTCCTCCTCCTCCTCCTC GTCCTCCTCCTCCTC 2: 164,749,388 (GRCm39) probably benign Het
Zfp874a T G 13: 67,590,539 (GRCm39) I382L possibly damaging 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
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'- TGCAGAGGAATTGTAGCCATCACG -3'
(R):5'- ACCTTTGGGACAGACTCCTCAAGAC -3'

Sequencing Primer
(F):5'- TCTAACAGTGGCAAGCTGGT -3'
(R):5'- TCAAGACCCTCTGAAGGCTG -3'
Posted On 2014-01-05