Incidental Mutation 'IGL03070:Mlxipl'
ID 417484
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Mlxipl
Ensembl Gene ENSMUSG00000005373
Gene Name MLX interacting protein-like
Synonyms ChREBP, WS-bHLH, bHLHd14, Wbscr14
Accession Numbers
Essential gene? Possibly essential (E-score: 0.532) question?
Stock # IGL03070
Quality Score
Status
Chromosome 5
Chromosomal Location 135118744-135167236 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 135161307 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Methionine at position 409 (V409M)
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: V409M

PolyPhen 2 Score 0.216 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000005507
Gene: ENSMUSG00000005373
AA Change: V409M

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 probably benign
Transcript: ENSMUST00000128691
AA Change: V409M

PolyPhen 2 Score 0.216 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000121348
Gene: ENSMUSG00000005373
AA Change: V409M

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 probably benign
Transcript: ENSMUST00000129008
AA Change: V409M

PolyPhen 2 Score 0.216 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000114933
Gene: ENSMUSG00000005373
AA Change: V409M

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: ENSMUST00000142385
AA Change: V409M

PolyPhen 2 Score 0.926 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000144328
Gene: ENSMUSG00000005373
AA Change: V409M

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 benign
Transcript: ENSMUST00000153519
AA Change: V409M

PolyPhen 2 Score 0.216 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000122198
Gene: ENSMUSG00000005373
AA Change: V409M

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
Coding Region Coverage
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: 26 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam3 T C 8: 25,193,800 (GRCm39) E404G probably damaging Het
Arid1a A G 4: 133,422,064 (GRCm39) S778P unknown Het
Asah2 A T 19: 31,983,744 (GRCm39) Y567N probably damaging Het
Crb1 G T 1: 139,168,996 (GRCm39) H841N possibly damaging Het
Ehbp1l1 A G 19: 5,765,981 (GRCm39) V1454A probably benign Het
Eif3d A G 15: 77,843,843 (GRCm39) L501P probably damaging Het
Fbxo4 A T 15: 4,007,344 (GRCm39) S107T possibly damaging Het
Galnt10 T C 11: 57,616,408 (GRCm39) Y108H probably damaging Het
Hspbap1 T A 16: 35,639,096 (GRCm39) D263E probably damaging Het
Kpna3 T C 14: 61,608,231 (GRCm39) probably benign Het
Miox A G 15: 89,220,287 (GRCm39) T160A possibly damaging Het
Mrps21 A T 3: 95,777,897 (GRCm39) probably benign Het
Muc6 A G 7: 141,230,834 (GRCm39) probably benign Het
Mup6 A T 4: 60,003,999 (GRCm39) I31F probably damaging Het
Or52s1 A G 7: 102,861,904 (GRCm39) H279R probably benign Het
Pabir1 A C 19: 24,454,316 (GRCm39) D135E probably damaging Het
Pgr T A 9: 8,903,665 (GRCm39) I562N possibly damaging Het
Prag1 T A 8: 36,570,703 (GRCm39) W429R probably benign Het
Prrc2c G T 1: 162,504,978 (GRCm39) P2621Q probably damaging Het
Psip1 T G 4: 83,383,318 (GRCm39) K232N probably damaging Het
Ryr1 T C 7: 28,770,084 (GRCm39) Y2663C probably damaging Het
Trhr2 T A 8: 123,085,342 (GRCm39) Q214L probably benign Het
Txndc11 A T 16: 10,893,151 (GRCm39) Y860N probably damaging Het
Uqcc6 A T 10: 82,455,950 (GRCm39) probably benign Het
Vmn2r72 C T 7: 85,401,249 (GRCm39) probably benign Het
Yif1a T A 19: 5,138,757 (GRCm39) H4Q 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
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
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
Posted On 2016-08-02