Incidental Mutation 'R6617:Mlxip'
ID 526315
Institutional Source Beutler Lab
Gene Symbol Mlxip
Ensembl Gene ENSMUSG00000038342
Gene Name MLX interacting protein
Synonyms Mir, bHLHe36, Mondoa
MMRRC Submission 044740-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.309) question?
Stock # R6617 (G1)
Quality Score 103.008
Status Validated
Chromosome 5
Chromosomal Location 123532861-123595995 bp(+) (GRCm39)
Type of Mutation splice site (78 bp from exon)
DNA Base Change (assembly) A to G at 123580512 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000107223 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000068237] [ENSMUST00000111596]
AlphaFold no structure available at present
Predicted Effect probably null
Transcript: ENSMUST00000068237
SMART Domains Protein: ENSMUSP00000064943
Gene: ENSMUSG00000038342

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 null
Transcript: ENSMUST00000111596
SMART Domains Protein: ENSMUSP00000107223
Gene: ENSMUSG00000038342

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
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
Meta Mutation Damage Score 0.9755 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.1%
  • 20x: 94.2%
Validation Efficiency 100% (39/39)
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: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam6b T A 12: 113,454,152 (GRCm39) I323K possibly damaging Het
Agbl4 T A 4: 110,437,332 (GRCm39) V81D probably damaging Het
Akap13 A G 7: 75,380,111 (GRCm39) D2147G possibly damaging Het
Akap9 C G 5: 4,018,745 (GRCm39) H1109D probably benign Het
Arhgef18 T C 8: 3,489,592 (GRCm39) L308P probably damaging Het
Atad2b C A 12: 5,074,668 (GRCm39) L1076I probably benign Het
Chp2 T C 7: 121,819,917 (GRCm39) V59A probably benign Het
Cped1 T A 6: 22,215,546 (GRCm39) C555* probably null Het
Crebbp C T 16: 3,937,670 (GRCm39) A698T possibly damaging Het
Crispld1 G A 1: 17,798,886 (GRCm39) M2I probably benign Het
Cul3 T C 1: 80,254,156 (GRCm39) N540S probably damaging Het
Dll4 A G 2: 119,158,412 (GRCm39) T134A probably benign Het
Fat2 G A 11: 55,186,931 (GRCm39) T1305I probably benign Het
Fbxw8 A G 5: 118,280,731 (GRCm39) probably null Het
Gm9195 A T 14: 72,669,215 (GRCm39) L2649H probably damaging Het
Gprc5c A G 11: 114,754,931 (GRCm39) I203V probably benign Het
Hmcn1 T C 1: 150,619,547 (GRCm39) D1189G probably benign Het
Hnrnpl C A 7: 28,518,009 (GRCm39) probably benign Het
Homer1 T A 13: 93,478,370 (GRCm39) Y38N probably damaging Het
Itgb5 A G 16: 33,766,962 (GRCm39) T707A probably benign Het
Lmbrd1 G A 1: 24,724,509 (GRCm39) R31Q probably damaging Het
Mbtps1 G A 8: 120,264,876 (GRCm39) P341S probably damaging Het
Myh13 A T 11: 67,252,226 (GRCm39) T1445S probably benign Het
Ncapg C T 5: 45,827,474 (GRCm39) A37V probably benign Het
Neb A G 2: 52,097,759 (GRCm39) F4909L probably damaging Het
Nrcam T A 12: 44,587,746 (GRCm39) W141R probably damaging Het
Or6k4 T G 1: 173,964,814 (GRCm39) F168C probably damaging Het
Phykpl A G 11: 51,484,781 (GRCm39) E247G probably damaging Het
Plekhh2 A G 17: 84,873,715 (GRCm39) I333M possibly damaging Het
Sorcs2 A G 5: 36,235,310 (GRCm39) F69L probably damaging Het
Sspo C A 6: 48,467,980 (GRCm39) T349K possibly damaging Het
Stap2 A G 17: 56,306,746 (GRCm39) S276P probably benign Het
Tle1 A G 4: 72,059,517 (GRCm39) S275P probably damaging Het
Topors G A 4: 40,261,896 (GRCm39) Q463* probably null Het
Tsc1 A G 2: 28,577,001 (GRCm39) D1101G possibly damaging Het
Tyrp1 G A 4: 80,764,984 (GRCm39) A54T probably benign Het
Vcam1 A G 3: 115,919,711 (GRCm39) V185A possibly damaging Het
Vmn2r19 T A 6: 123,313,494 (GRCm39) *855R probably null 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
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
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'- TTGGTTGTAGGCCATCACCAC -3'
(R):5'- GATGCCAGACTTCATCTCCC -3'

Sequencing Primer
(F):5'- TTGTAGGCCATCACCACAGAGG -3'
(R):5'- AGACTTCATCTCCCTATATGTGAGTG -3'
Posted On 2018-06-22