Incidental Mutation 'R2870:Mlxip'
ID 253557
Institutional Source Beutler Lab
Gene Symbol Mlxip
Ensembl Gene ENSMUSG00000038342
Gene Name MLX interacting protein
Synonyms Mir, bHLHe36, Mondoa
MMRRC Submission 040458-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.309) question?
Stock # R2870 (G1)
Quality Score 225
Status Not validated
Chromosome 5
Chromosomal Location 123532861-123595995 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 123590730 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Valine at position 878 (M878V)
Ref Sequence ENSEMBL: ENSMUSP00000064943 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000068237]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000068237
AA Change: M878V

PolyPhen 2 Score 0.037 (Sensitivity: 0.94; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000064943
Gene: ENSMUSG00000038342
AA Change: M878V

DomainStartEndE-ValueType
low complexity region 9 19 N/A INTRINSIC
low complexity region 27 44 N/A INTRINSIC
low complexity region 47 73 N/A INTRINSIC
PDB:4GNT|B 157 177 8e-7 PDB
low complexity region 347 363 N/A INTRINSIC
low complexity region 436 467 N/A INTRINSIC
low complexity region 514 539 N/A INTRINSIC
low complexity region 557 570 N/A INTRINSIC
low complexity region 632 643 N/A INTRINSIC
low complexity region 686 704 N/A INTRINSIC
HLH 723 773 2.81e-9 SMART
low complexity region 880 894 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000135961
SMART Domains Protein: ENSMUSP00000120510
Gene: ENSMUSG00000038342

DomainStartEndE-ValueType
low complexity region 3 16 N/A INTRINSIC
low complexity region 78 89 N/A INTRINSIC
low complexity region 132 150 N/A INTRINSIC
HLH 169 219 2.81e-9 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000199458
Meta Mutation Damage Score 0.1325 question?
Coding Region Coverage
  • 1x: 99.6%
  • 3x: 98.5%
  • 10x: 94.1%
  • 20x: 79.0%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that functions as part of a heterodimer to activate transcription. The encoded protein forms a heterodimer with Max-like protein X (MLX) and is involved in the regulation of genes in response to cellular glucose levels. [provided by RefSeq, Mar 2014]
Allele List at MGI
Other mutations in this stock
Total: 76 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Actrt3 A G 3: 30,653,847 (GRCm39) V51A probably damaging Het
Adgb C T 10: 10,307,025 (GRCm39) probably null Het
Als2 A G 1: 59,250,296 (GRCm39) S483P probably damaging Het
Ankrd10 C T 8: 11,665,682 (GRCm39) R306H probably damaging Het
Arhgef10 T C 8: 15,025,093 (GRCm39) probably null Het
Arhgef10 A G 8: 15,025,666 (GRCm39) I459V probably benign Het
Armc2 C T 10: 41,842,696 (GRCm39) probably null Het
Atp12a A G 14: 56,624,407 (GRCm39) R952G possibly damaging Het
Atp6v1g1 A G 4: 63,468,258 (GRCm39) Y87C probably benign Het
Cacna2d1 G A 5: 16,517,566 (GRCm39) C404Y probably damaging Het
Ccdc59 A T 10: 105,677,388 (GRCm39) K9M possibly damaging Het
Cd6 A G 19: 10,771,990 (GRCm39) I307T possibly damaging Het
Cimap1d G A 10: 79,481,487 (GRCm39) T14I probably benign Het
Clasrp C A 7: 19,319,165 (GRCm39) probably benign Het
Csmd2 T C 4: 128,451,511 (GRCm39) F113S unknown Het
Csmd3 C T 15: 47,721,320 (GRCm39) G1437D probably damaging Het
Cyp4a14 C A 4: 115,344,498 (GRCm39) G456W probably damaging Het
Cyp4a30b A G 4: 115,315,559 (GRCm39) H260R possibly damaging Het
Dcp1b C T 6: 119,191,735 (GRCm39) S217L probably benign Het
Dennd2b A T 7: 109,156,637 (GRCm39) Y38N probably benign Het
Dhx57 A T 17: 80,558,805 (GRCm39) D1051E probably benign Het
Dmp1 A G 5: 104,359,974 (GRCm39) S217G probably benign Het
Eef2 GCCC GCCCC 10: 81,014,601 (GRCm39) probably null Het
Eif4enif1 C T 11: 3,192,586 (GRCm39) P805S probably damaging Het
Eral1 A G 11: 77,967,104 (GRCm39) I164T possibly damaging Het
Esr1 G A 10: 4,947,890 (GRCm39) R481H probably damaging Het
Fan1 A G 7: 64,012,938 (GRCm39) I668T probably benign Het
Gbp11 C T 5: 105,478,866 (GRCm39) D191N probably benign Het
Gria2 G A 3: 80,609,799 (GRCm39) T670I probably damaging Het
Gria4 T A 9: 4,503,614 (GRCm39) N334I probably damaging Het
Grm5 T C 7: 87,251,930 (GRCm39) V60A possibly damaging Het
Hjurp GT GTT 1: 88,194,246 (GRCm39) probably null Het
Ift172 C T 5: 31,415,205 (GRCm39) V1335I probably benign Het
Ino80d C T 1: 63,100,198 (GRCm39) probably null Het
Kif1c A G 11: 70,614,907 (GRCm39) E567G probably damaging Het
Krt31 T G 11: 99,938,699 (GRCm39) N298T possibly damaging Het
Matr3 T A 18: 35,705,349 (GRCm39) S91R probably benign Het
Mdm1 A G 10: 117,986,847 (GRCm39) T267A probably benign Het
Mmp1b A T 9: 7,386,875 (GRCm39) silent Het
Mroh2a GCCC GC 1: 88,159,979 (GRCm39) probably null Het
Mtor T A 4: 148,624,487 (GRCm39) M2089K probably benign Het
Mylk2 A G 2: 152,761,268 (GRCm39) K457R probably damaging Het
Nomo1 C A 7: 45,696,361 (GRCm39) T293N probably damaging Het
Or10g1 T G 14: 52,648,318 (GRCm39) T4P probably benign Het
Or6c211 A T 10: 129,505,628 (GRCm39) C253* probably null Het
Or8k33 T C 2: 86,383,928 (GRCm39) D180G possibly damaging Het
Ostc T C 3: 130,497,157 (GRCm39) N80S probably damaging Het
Otud4 T A 8: 80,387,702 (GRCm39) N300K possibly damaging Het
Palmd T C 3: 116,717,400 (GRCm39) R366G possibly damaging Het
Pcdhb20 A T 18: 37,638,833 (GRCm39) Q453L possibly damaging Het
Pcdhga9 T A 18: 37,870,524 (GRCm39) Y118N possibly damaging Het
Pes1 C A 11: 3,926,834 (GRCm39) T372K probably benign Het
Plcl1 A T 1: 55,736,309 (GRCm39) D550V probably benign Het
Plekhg5 T A 4: 152,191,960 (GRCm39) C433S probably benign Het
Plin2 A G 4: 86,586,915 (GRCm39) M1T probably null Het
Ppp1r7 T A 1: 93,285,585 (GRCm39) probably null Het
Psmb8 T C 17: 34,419,144 (GRCm39) I146T probably damaging Het
Pzp A T 6: 128,462,519 (GRCm39) probably null Het
Rel T C 11: 23,711,129 (GRCm39) I13V probably benign Het
Reln C T 5: 22,254,789 (GRCm39) V527I possibly damaging Het
Retnla A G 16: 48,663,975 (GRCm39) R90G probably benign Het
Semp2l2b A T 10: 21,943,278 (GRCm39) I234N probably benign Het
Shoc1 A C 4: 59,093,850 (GRCm39) L226R probably damaging Het
Slc39a8 T A 3: 135,592,554 (GRCm39) probably null Het
Slc5a8 A G 10: 88,740,825 (GRCm39) I247V probably benign Het
Spcs2 T C 7: 99,488,968 (GRCm39) D240G probably damaging Het
Stx3 A T 19: 11,766,938 (GRCm39) V91D probably damaging Het
Tafa2 A T 10: 123,540,270 (GRCm39) H42L possibly damaging Het
Tbc1d8 A G 1: 39,444,398 (GRCm39) F187S probably damaging Het
Thbs1 C G 2: 117,949,859 (GRCm39) N611K probably damaging Het
Tipin A C 9: 64,211,609 (GRCm39) S232R probably benign Het
Tmem132b A G 5: 125,715,332 (GRCm39) D347G probably benign Het
Vmn2r68 A C 7: 84,882,834 (GRCm39) M306R probably benign Het
Vwa7 G A 17: 35,240,218 (GRCm39) M395I probably damaging Het
Ybx3 G A 6: 131,347,376 (GRCm39) A253V probably damaging Het
Zfp53 A T 17: 21,728,340 (GRCm39) E124D probably benign Het
Other mutations in Mlxip
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00519:Mlxip APN 5 123,585,268 (GRCm39) missense probably benign 0.35
IGL00922:Mlxip APN 5 123,578,128 (GRCm39) missense probably damaging 1.00
IGL01138:Mlxip APN 5 123,588,219 (GRCm39) missense probably damaging 1.00
IGL01624:Mlxip APN 5 123,533,392 (GRCm39) missense probably benign 0.08
IGL02155:Mlxip APN 5 123,591,455 (GRCm39) missense probably benign
IGL03011:Mlxip APN 5 123,584,014 (GRCm39) missense probably benign 0.01
IGL03177:Mlxip APN 5 123,584,044 (GRCm39) missense possibly damaging 0.86
IGL03242:Mlxip APN 5 123,578,124 (GRCm39) missense probably damaging 1.00
confutatis UTSW 5 123,580,512 (GRCm39) splice site probably null
BB008:Mlxip UTSW 5 123,588,558 (GRCm39) missense probably damaging 1.00
BB018:Mlxip UTSW 5 123,588,558 (GRCm39) missense probably damaging 1.00
PIT4366001:Mlxip UTSW 5 123,533,173 (GRCm39) missense probably benign 0.00
R0136:Mlxip UTSW 5 123,580,369 (GRCm39) missense probably damaging 1.00
R1583:Mlxip UTSW 5 123,588,286 (GRCm39) missense possibly damaging 0.86
R2410:Mlxip UTSW 5 123,581,132 (GRCm39) missense probably damaging 1.00
R2869:Mlxip UTSW 5 123,590,730 (GRCm39) missense probably benign 0.04
R2869:Mlxip UTSW 5 123,590,730 (GRCm39) missense probably benign 0.04
R2870:Mlxip UTSW 5 123,590,730 (GRCm39) missense probably benign 0.04
R2871:Mlxip UTSW 5 123,590,730 (GRCm39) missense probably benign 0.04
R2871:Mlxip UTSW 5 123,590,730 (GRCm39) missense probably benign 0.04
R2873:Mlxip UTSW 5 123,590,730 (GRCm39) missense probably benign 0.04
R2962:Mlxip UTSW 5 123,578,887 (GRCm39) missense probably damaging 0.99
R3709:Mlxip UTSW 5 123,585,537 (GRCm39) missense probably benign 0.00
R4512:Mlxip UTSW 5 123,533,128 (GRCm39) missense probably benign
R4536:Mlxip UTSW 5 123,588,566 (GRCm39) missense probably damaging 0.97
R4722:Mlxip UTSW 5 123,585,265 (GRCm39) missense probably benign 0.39
R4993:Mlxip UTSW 5 123,533,357 (GRCm39) missense probably damaging 1.00
R5503:Mlxip UTSW 5 123,533,390 (GRCm39) missense probably damaging 0.98
R5715:Mlxip UTSW 5 123,578,121 (GRCm39) missense probably damaging 1.00
R6006:Mlxip UTSW 5 123,583,721 (GRCm39) missense possibly damaging 0.93
R6330:Mlxip UTSW 5 123,533,015 (GRCm39) missense probably benign
R6617:Mlxip UTSW 5 123,580,512 (GRCm39) splice site probably null
R6709:Mlxip UTSW 5 123,585,339 (GRCm39) missense possibly damaging 0.89
R6970:Mlxip UTSW 5 123,583,735 (GRCm39) missense possibly damaging 0.52
R7718:Mlxip UTSW 5 123,583,577 (GRCm39) missense probably benign 0.00
R7931:Mlxip UTSW 5 123,588,558 (GRCm39) missense probably damaging 1.00
R8222:Mlxip UTSW 5 123,585,596 (GRCm39) missense probably benign 0.01
R9188:Mlxip UTSW 5 123,583,642 (GRCm39) missense probably benign 0.05
Predicted Primers PCR Primer
(F):5'- TCAGCAGTCAACCTGGCTTG -3'
(R):5'- TCTGCTGAAAGCTTTCTGGATTCTAG -3'

Sequencing Primer
(F):5'- AGTCAACCTGGCTTGCCTGAG -3'
(R):5'- GAAAGCTTTCTGGATTCTAGGATCCC -3'
Posted On 2014-12-04