Incidental Mutation 'PIT4366001:Mlxip'
ID 554755
Institutional Source Beutler Lab
Gene Symbol Mlxip
Ensembl Gene ENSMUSG00000038342
Gene Name MLX interacting protein
Synonyms Mir, bHLHe36, Mondoa
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.309) question?
Stock # PIT4366001 (G1)
Quality Score 109.008
Status Not validated
Chromosome 5
Chromosomal Location 123532861-123595995 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 123533173 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Proline to Serine at position 61 (P61S)
Ref Sequence ENSEMBL: ENSMUSP00000064943 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000068237] [ENSMUST00000111596]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000068237
AA Change: P61S

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000064943
Gene: ENSMUSG00000038342
AA Change: P61S

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: ENSMUST00000111596
AA Change: P61S

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
SMART Domains Protein: ENSMUSP00000107223
Gene: ENSMUSG00000038342
AA Change: P61S

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 6e-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
Coding Region Coverage
  • 1x: 93.0%
  • 3x: 90.7%
  • 10x: 85.5%
  • 20x: 73.8%
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: 68 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aatk C A 11: 119,901,786 (GRCm39) S870I possibly damaging Het
Abca13 T C 11: 9,244,962 (GRCm39) V2275A probably benign Het
Abcb5 T C 12: 118,899,833 (GRCm39) K278R probably damaging Het
Adcy2 TA TAA 13: 68,858,109 (GRCm39) probably benign Het
Add3 C T 19: 53,205,298 (GRCm39) P16L unknown Het
Akap9 T A 5: 4,096,221 (GRCm39) D2365E probably benign Het
Asah1 A G 8: 41,796,783 (GRCm39) S300P possibly damaging Het
Astn1 A T 1: 158,424,779 (GRCm39) H655L probably benign Het
Astn1 A T 1: 158,424,781 (GRCm39) I656F probably benign Het
Bmpr1b T A 3: 141,586,224 (GRCm39) T13S probably benign Het
Camsap2 A G 1: 136,208,055 (GRCm39) F478L Het
Card10 G A 15: 78,671,631 (GRCm39) S611L probably benign Het
Cep68 T C 11: 20,190,007 (GRCm39) N335S probably benign Het
Chac1 T C 2: 119,181,986 (GRCm39) W35R probably damaging Het
Cntn6 T C 6: 104,809,498 (GRCm39) V511A probably benign Het
Cpne9 G T 6: 113,271,707 (GRCm39) G356W probably damaging Het
Dnah10 C A 5: 124,852,588 (GRCm39) T1939K possibly damaging Het
Dock10 T C 1: 80,573,438 (GRCm39) N239D probably benign Het
Dock5 T C 14: 68,062,123 (GRCm39) K415R possibly damaging Het
Dtd2 C A 12: 52,046,582 (GRCm39) D86Y probably damaging Het
Efcab9 A G 11: 32,473,608 (GRCm39) F127S probably damaging Het
Ermp1 T C 19: 29,606,189 (GRCm39) H375R probably benign Het
Frem2 A T 3: 53,560,622 (GRCm39) M1295K probably damaging Het
Gbp7 T G 3: 142,248,712 (GRCm39) I325R probably benign Het
Gpr179 T C 11: 97,227,677 (GRCm39) K1493E probably benign Het
Gucy2g T A 19: 55,226,214 (GRCm39) E234V probably null Het
Itpr1 T A 6: 108,470,718 (GRCm39) C2215* probably null Het
Ltn1 G A 16: 87,177,728 (GRCm39) R1634* probably null Het
Lynx1 A T 15: 74,623,258 (GRCm39) M58K possibly damaging Het
Macc1 T C 12: 119,410,684 (GRCm39) V484A probably benign Het
Map3k9 C T 12: 81,819,535 (GRCm39) V240M possibly damaging Het
Mars1 A G 10: 127,135,267 (GRCm39) M608T possibly damaging Het
Mc2r T C 18: 68,540,826 (GRCm39) M156V probably benign Het
Mchr1 G T 15: 81,121,417 (GRCm39) V56L probably benign Het
Mtarc1 A G 1: 184,539,383 (GRCm39) F96S probably benign Het
Muc4 A G 16: 32,575,542 (GRCm39) T1557A unknown Het
Myt1 T C 2: 181,467,731 (GRCm39) V1135A probably damaging Het
Ndufaf6 A T 4: 11,073,215 (GRCm39) S76T probably benign Het
Ntrk2 A G 13: 59,208,149 (GRCm39) Y665C probably damaging Het
Oaz3 T G 3: 94,340,901 (GRCm39) R215S unknown Het
Or10x1 T C 1: 174,196,656 (GRCm39) Y58H probably damaging Het
Or5m10b T C 2: 85,699,226 (GRCm39) C97R probably damaging Het
Or5m8 A T 2: 85,822,385 (GRCm39) N75Y probably damaging Het
Or5w1b C T 2: 87,475,534 (GRCm39) W311* probably null Het
Perm1 G T 4: 156,303,192 (GRCm39) V579L probably benign Het
Phyhipl A G 10: 70,404,788 (GRCm39) V140A probably benign Het
Pip5k1c T A 10: 81,144,842 (GRCm39) S228T probably damaging Het
Plekhn1 T G 4: 156,309,268 (GRCm39) T213P probably damaging Het
Pomt2 A T 12: 87,163,303 (GRCm39) probably null Het
Ptcd1 A G 5: 145,088,145 (GRCm39) V622A probably benign Het
Ptn T A 6: 36,718,284 (GRCm39) H127L probably benign Het
Ptprk A T 10: 28,462,015 (GRCm39) M1193L probably benign Het
Ptpru G A 4: 131,527,023 (GRCm39) P650S probably benign Het
Pum2 T A 12: 8,783,390 (GRCm39) L613Q probably damaging Het
Rapgef6 A G 11: 54,582,446 (GRCm39) T1458A probably damaging Het
Sap130 C T 18: 31,810,462 (GRCm39) A470V probably benign Het
Sertad2 C A 11: 20,598,116 (GRCm39) P104Q probably benign Het
Sfrp4 A T 13: 19,814,414 (GRCm39) M324L unknown Het
Sh3bp4 A G 1: 89,073,156 (GRCm39) N668S probably benign Het
Snx30 C A 4: 59,894,653 (GRCm39) D410E probably benign Het
Spata31 C A 13: 65,069,319 (GRCm39) S489* probably null Het
Taok3 T A 5: 117,366,050 (GRCm39) M367K probably benign Het
Tfap2a T C 13: 40,874,850 (GRCm39) N254D possibly damaging Het
Tgtp1 T G 11: 48,877,867 (GRCm39) L279F possibly damaging Het
Tmpo A G 10: 90,999,172 (GRCm39) F205S probably damaging Het
Tmprss5 A T 9: 49,023,517 (GRCm39) I218L probably benign Het
Tti2 A G 8: 31,641,224 (GRCm39) E116G probably benign Het
Vmn2r59 A T 7: 41,695,205 (GRCm39) N402K possibly damaging 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
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
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'- GACGTTTTCATGTGTTCGCC -3'
(R):5'- TTTGTTCAAGAGAGACCGGGG -3'

Sequencing Primer
(F):5'- CATGTGTTCGCCGCGCC -3'
(R):5'- CAGGGTCATGCACTCGAAG -3'
Posted On 2019-06-07