Incidental Mutation 'R7464:Mlxipl'
ID 578625
Institutional Source Beutler Lab
Gene Symbol Mlxipl
Ensembl Gene ENSMUSG00000005373
Gene Name MLX interacting protein-like
Synonyms ChREBP, WS-bHLH, bHLHd14, Wbscr14
MMRRC Submission 045538-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.532) question?
Stock # R7464 (G1)
Quality Score 225.009
Status Validated
Chromosome 5
Chromosomal Location 135118744-135167236 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 135162482 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 648 (V648A)
Ref Sequence ENSEMBL: ENSMUSP00000005507 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000005507] [ENSMUST00000128691] [ENSMUST00000129008] [ENSMUST00000142385] [ENSMUST00000153519]
AlphaFold Q99MZ3
Predicted Effect probably benign
Transcript: ENSMUST00000005507
AA Change: V648A

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000005507
Gene: ENSMUSG00000005373
AA Change: V648A

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: V648A

PolyPhen 2 Score 0.028 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000121348
Gene: ENSMUSG00000005373
AA Change: V648A

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
SMART Domains Protein: ENSMUSP00000114933
Gene: ENSMUSG00000005373

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: ENSMUST00000142385
SMART Domains Protein: ENSMUSP00000144328
Gene: ENSMUSG00000005373

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: V648A

PolyPhen 2 Score 0.039 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000122198
Gene: ENSMUSG00000005373
AA Change: V648A

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
SMART Domains Protein: ENSMUSP00000121668
Gene: ENSMUSG00000005373
AA Change: V6A

DomainStartEndE-ValueType
HLH 26 120 7.9e-4 SMART
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 98.9%
Validation Efficiency 96% (79/82)
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: 85 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aass C T 6: 23,077,152 (GRCm39) G736R possibly damaging Het
Acta2 G A 19: 34,229,931 (GRCm39) T8I probably benign Het
Ankar A T 1: 72,738,053 (GRCm39) V43E possibly damaging Het
Apof A G 10: 128,105,505 (GRCm39) I220V probably benign Het
Asxl1 G T 2: 153,239,705 (GRCm39) A499S probably benign Het
Baz2a T A 10: 127,957,942 (GRCm39) D1069E possibly damaging Het
Baz2b T C 2: 59,807,792 (GRCm39) T156A possibly damaging Het
Bbc3 A T 7: 16,051,082 (GRCm39) R169W unknown Het
C5ar1 T A 7: 15,982,691 (GRCm39) I110L probably benign Het
Cd19 C A 7: 126,010,975 (GRCm39) R323L probably damaging Het
Cdc14b A T 13: 64,344,489 (GRCm39) C113* probably null Het
Cngb1 C A 8: 95,980,811 (GRCm39) W914L possibly damaging Het
Colgalt2 A G 1: 152,379,895 (GRCm39) K445E probably damaging Het
Crebrf A G 17: 26,982,461 (GRCm39) M608V unknown Het
Csf1 T A 3: 107,656,191 (GRCm39) H280L probably benign Het
Cyp2j11 C A 4: 96,233,357 (GRCm39) R113L probably damaging Het
D5Ertd579e G A 5: 36,771,129 (GRCm39) H1089Y probably damaging Het
Ddx60 C T 8: 62,393,708 (GRCm39) T48M possibly damaging Het
Defa40 T A 8: 21,739,910 (GRCm39) S45T probably damaging Het
Dock10 T C 1: 80,518,032 (GRCm39) D1315G probably damaging Het
Dock2 T G 11: 34,586,105 (GRCm39) N526H probably damaging Het
Dram2 T C 3: 106,480,999 (GRCm39) *268Q probably null Het
Emc8 A G 8: 121,394,657 (GRCm39) Y21H possibly damaging Het
Fam162a A G 16: 35,891,863 (GRCm39) L4P probably damaging Het
Fan1 T A 7: 64,022,234 (GRCm39) N340Y probably damaging Het
Fbxw10 T A 11: 62,744,124 (GRCm39) I307N probably benign Het
Fbxw16 A G 9: 109,268,619 (GRCm39) V257A possibly damaging Het
Fer1l6 T A 15: 58,445,096 (GRCm39) probably null Het
Galnt7 A G 8: 58,037,054 (GRCm39) Y112H possibly damaging Het
Gigyf2 T C 1: 87,356,326 (GRCm39) I803T unknown Het
Gm28729 A G 9: 96,403,288 (GRCm39) I44T possibly damaging Het
Gm5447 A G 13: 31,158,377 (GRCm39) I34V not run Het
H2-M9 A T 17: 36,953,303 (GRCm39) probably null Het
Helz G A 11: 107,527,104 (GRCm39) C864Y probably damaging Het
Il25 A G 14: 55,170,679 (GRCm39) Y84C probably null Het
Itga10 T A 3: 96,555,471 (GRCm39) C142S probably damaging Het
Kcna10 A T 3: 107,101,395 (GRCm39) M9L probably damaging Het
Klhl6 G T 16: 19,775,863 (GRCm39) Q232K possibly damaging Het
Mb21d2 T G 16: 28,748,298 (GRCm39) I40L possibly damaging Het
Mdm1 T C 10: 117,988,171 (GRCm39) S334P probably benign Het
Mllt10 T A 2: 18,175,090 (GRCm39) D549E probably benign Het
Nars2 A G 7: 96,689,137 (GRCm39) K353R probably benign Het
Nav1 T A 1: 135,512,647 (GRCm39) M138L probably benign Het
Neb T C 2: 52,083,902 (GRCm39) T5635A probably benign Het
Nktr A C 9: 121,579,393 (GRCm39) I1154L unknown Het
Or14j8 A T 17: 38,263,171 (GRCm39) V248D probably damaging Het
Or2a57 T G 6: 43,213,228 (GRCm39) S229A probably damaging Het
Or4g17 T A 2: 111,209,543 (GRCm39) L66Q probably damaging Het
Oxld1 T C 11: 120,347,963 (GRCm39) D78G probably benign Het
Pde1b T C 15: 103,433,256 (GRCm39) I255T probably benign Het
Pkp4 T A 2: 59,138,481 (GRCm39) F244I probably benign Het
Polg2 C A 11: 106,664,540 (GRCm39) V305L probably benign Het
Pramel34 C T 5: 93,784,099 (GRCm39) C455Y probably damaging Het
Ptpn18 G A 1: 34,512,445 (GRCm39) D417N possibly damaging Het
Sash1 T C 10: 8,632,509 (GRCm39) D242G possibly damaging Het
Six4 T C 12: 73,159,304 (GRCm39) T219A possibly damaging Het
Slc28a3 A C 13: 58,710,835 (GRCm39) Y562* probably null Het
Soat1 A T 1: 156,266,887 (GRCm39) W310R probably damaging Het
Son CATGGACTCCCAGATGTTAGCAACTAGCTCTATGGACTCCCAGATGTTAGCAACTAGCTCTATGGACTCCCAGATGTTAGCAACCAGCAGTATGGACTCCCAGATGTTAGCAACCAGCAGTATGGACTCCCAGATGTTAGCAACCAGCTCCATGGACTCCCAGATGTTAGCAAC CATGGACTCCCAGATGTTAGCAACTAGCTCTATGGACTCCCAGATGTTAGCAACCAGCAGTATGGACTCCCAGATGTTAGCAACCAGCAGTATGGACTCCCAGATGTTAGCAACCAGCTCCATGGACTCCCAGATGTTAGCAAC 16: 91,453,579 (GRCm39) probably benign Het
Spef2 T C 15: 9,740,671 (GRCm39) N30D probably benign Het
Spopfm2 A T 3: 94,083,411 (GRCm39) N133K probably benign Het
Srebf2 T A 15: 82,057,075 (GRCm39) I270N probably damaging Het
St8sia3 T C 18: 64,404,589 (GRCm39) W289R probably damaging Het
Stx5a T A 19: 8,720,868 (GRCm39) probably benign Het
Tacc1 T C 8: 25,654,480 (GRCm39) D689G probably damaging Het
Tacc3 A G 5: 33,818,628 (GRCm39) D21G probably benign Het
Tapt1 G A 5: 44,346,030 (GRCm39) R307* probably null Het
Tbc1d9b T A 11: 50,022,312 (GRCm39) V16E probably damaging Het
Tchhl1 G A 3: 93,377,971 (GRCm39) R225K probably benign Het
Thumpd3 G A 6: 113,032,730 (GRCm39) G156D probably benign Het
Tmem178 C T 17: 81,252,331 (GRCm39) P72S probably benign Het
Tmem52 C T 4: 155,553,926 (GRCm39) P46S probably benign Het
Tmem94 G T 11: 115,677,082 (GRCm39) R118L possibly damaging Het
Tulp3 A T 6: 128,303,792 (GRCm39) V269D probably benign Het
Ubr1 A G 2: 120,720,255 (GRCm39) probably null Het
Upf1 G A 8: 70,786,073 (GRCm39) S962L probably benign Het
Vcpip1 C T 1: 9,816,745 (GRCm39) R546Q probably damaging Het
Vmn2r49 A C 7: 9,722,820 (GRCm39) S151R probably benign Het
Wac T C 18: 7,871,746 (GRCm39) probably null Het
Wrn C T 8: 33,826,024 (GRCm39) probably null Het
Zfp286 C A 11: 62,671,627 (GRCm39) D149Y probably benign Het
Zfp748 A G 13: 67,690,091 (GRCm39) C390R probably damaging Het
Zfp873 A G 10: 81,896,210 (GRCm39) T314A possibly damaging Het
Zfyve1 C T 12: 83,598,261 (GRCm39) D656N probably benign Het
Zmym1 T A 4: 126,952,728 (GRCm39) K18* probably null 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
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
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'- TCCAGCGGTAAATAGGGGCTAG -3'
(R):5'- AGCTTAATATTGAACCGCCTCTTC -3'

Sequencing Primer
(F):5'- TAAATAGGGGCTAGAGGGGTC -3'
(R):5'- TCTTCTGCTCCGCGGAGATG -3'
Posted On 2019-10-07