Incidental Mutation 'R6006:Mlxip'
ID479475
Institutional Source Beutler Lab
Gene Symbol Mlxip
Ensembl Gene ENSMUSG00000038342
Gene NameMLX interacting protein
SynonymsMondoa, bHLHe36, Mir
MMRRC Submission 044183-MU
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.221) question?
Stock #R6006 (G1)
Quality Score225.009
Status Not validated
Chromosome5
Chromosomal Location123394798-123457932 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 123445658 bp
ZygosityHeterozygous
Amino Acid Change Phenylalanine to Serine at position 428 (F428S)
Ref Sequence ENSEMBL: ENSMUSP00000107223 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000068237] [ENSMUST00000111596]
Predicted Effect possibly damaging
Transcript: ENSMUST00000068237
AA Change: F428S

PolyPhen 2 Score 0.897 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000064943
Gene: ENSMUSG00000038342
AA Change: F428S

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 possibly damaging
Transcript: ENSMUST00000111596
AA Change: F428S

PolyPhen 2 Score 0.928 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000107223
Gene: ENSMUSG00000038342
AA Change: F428S

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
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.5%
  • 10x: 97.3%
  • 20x: 91.3%
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: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb10 A G 8: 123,968,065 I296T probably benign Het
Abcb4 C A 5: 8,946,026 T894K probably damaging Het
Acad12 C T 5: 121,599,236 V491I possibly damaging Het
Actr8 T A 14: 29,984,142 probably null Het
Adam7 A C 14: 68,511,396 D467E probably damaging Het
Adamts18 A T 8: 113,706,974 C1043S probably damaging Het
Adgrb3 T G 1: 25,826,531 D77A possibly damaging Het
Arhgap20 T A 9: 51,850,126 D1056E probably benign Het
Bco1 A G 8: 117,113,591 probably null Het
Btn2a2 A T 13: 23,486,363 W67R probably damaging Het
Camkmt A T 17: 85,452,238 N269Y possibly damaging Het
Cand1 A G 10: 119,210,028 F991L possibly damaging Het
Cchcr1 A G 17: 35,524,700 K234E possibly damaging Het
Cd14 T C 18: 36,726,282 D40G possibly damaging Het
Cdc73 A T 1: 143,617,439 F386I probably damaging Het
Cdk14 C T 5: 5,249,211 M1I probably null Het
Cnpy3 A C 17: 46,736,864 S220A probably benign Het
Col22a1 A G 15: 71,973,836 V359A probably damaging Het
Col6a3 C A 1: 90,768,383 C2654F unknown Het
Colgalt2 A G 1: 152,473,161 T186A probably damaging Het
Cpsf4l A G 11: 113,699,927 V199A probably benign Het
Dhtkd1 G A 2: 5,904,025 Q753* probably null Het
Ep400 A G 5: 110,704,959 S1307P unknown Het
Fer1l6 T C 15: 58,647,044 V1675A probably damaging Het
Glis1 T C 4: 107,567,906 L238P probably damaging Het
Gm35339 T C 15: 76,357,172 V626A probably damaging Het
Iqgap3 T A 3: 88,091,547 D318E probably damaging Het
Lats1 T C 10: 7,705,595 F715L probably damaging Het
Morc3 T G 16: 93,866,493 I528R possibly damaging Het
Mtx1 C T 3: 89,210,306 G60D probably damaging Het
Mug2 G C 6: 122,083,500 Q1398H probably null Het
Mup8 T C 4: 60,220,403 I110V probably benign Het
Nfkb1 A T 3: 135,603,761 L12* probably null Het
Numa1 G A 7: 101,992,719 probably null Het
Olfr670 T G 7: 104,960,663 E23A probably damaging Het
Pbk C T 14: 65,816,645 P213L probably damaging Het
Pdcd1lg2 T A 19: 29,454,505 H224Q possibly damaging Het
Pkp1 C G 1: 135,877,668 probably null Het
Rela A G 19: 5,639,939 N139S probably damaging Het
Rgs3 G A 4: 62,623,906 R39Q probably damaging Het
S1pr3 A G 13: 51,419,695 E304G probably damaging Het
Sertad2 G A 11: 20,647,884 G27S probably benign Het
Setmar T C 6: 108,076,426 S294P possibly damaging Het
Smc2 A G 4: 52,459,024 N473S probably benign Het
Ssr1 TCTCTTTC T 13: 37,985,996 probably null Het
Tigd2 A G 6: 59,210,777 I210V possibly damaging Het
Tmprss9 T A 10: 80,883,721 F93L possibly damaging Het
Ttc30a1 A G 2: 75,981,488 Y84H probably benign Het
U2surp T C 9: 95,479,307 Y633C probably damaging Het
Usp18 A T 6: 121,262,822 E292V possibly damaging Het
Usp32 A C 11: 84,992,451 probably null Het
Utp18 T C 11: 93,885,623 D12G probably benign Het
Vmn1r216 C A 13: 23,099,758 H204N probably benign Het
Wwc1 A T 11: 35,870,982 V619E probably null Het
Wwc1 T C 11: 35,889,273 D285G probably damaging Het
Zfp3 A T 11: 70,771,764 Q183L probably benign Het
Zfp955a A G 17: 33,241,686 C491R probably damaging Het
Other mutations in Mlxip
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00519:Mlxip APN 5 123447205 missense probably benign 0.35
IGL00922:Mlxip APN 5 123440065 missense probably damaging 1.00
IGL01138:Mlxip APN 5 123450156 missense probably damaging 1.00
IGL01624:Mlxip APN 5 123395329 missense probably benign 0.08
IGL02155:Mlxip APN 5 123453392 missense probably benign
IGL03011:Mlxip APN 5 123445951 missense probably benign 0.01
IGL03177:Mlxip APN 5 123445981 missense possibly damaging 0.86
IGL03242:Mlxip APN 5 123440061 missense probably damaging 1.00
PIT4366001:Mlxip UTSW 5 123395110 missense probably benign 0.00
R0136:Mlxip UTSW 5 123442306 missense probably damaging 1.00
R1583:Mlxip UTSW 5 123450223 missense possibly damaging 0.86
R2410:Mlxip UTSW 5 123443069 missense probably damaging 1.00
R2869:Mlxip UTSW 5 123452667 missense probably benign 0.04
R2869:Mlxip UTSW 5 123452667 missense probably benign 0.04
R2870:Mlxip UTSW 5 123452667 missense probably benign 0.04
R2870:Mlxip UTSW 5 123452667 missense probably benign 0.04
R2871:Mlxip UTSW 5 123452667 missense probably benign 0.04
R2871:Mlxip UTSW 5 123452667 missense probably benign 0.04
R2873:Mlxip UTSW 5 123452667 missense probably benign 0.04
R2962:Mlxip UTSW 5 123440824 missense probably damaging 0.99
R3709:Mlxip UTSW 5 123447474 missense probably benign 0.00
R4512:Mlxip UTSW 5 123395065 missense probably benign
R4536:Mlxip UTSW 5 123450503 missense probably damaging 0.97
R4722:Mlxip UTSW 5 123447202 missense probably benign 0.39
R4993:Mlxip UTSW 5 123395294 missense probably damaging 1.00
R5503:Mlxip UTSW 5 123395327 missense probably damaging 0.98
R5715:Mlxip UTSW 5 123440058 missense probably damaging 1.00
R6330:Mlxip UTSW 5 123394952 missense probably benign
R6617:Mlxip UTSW 5 123442449 intron probably null
R6709:Mlxip UTSW 5 123447276 missense possibly damaging 0.89
R6970:Mlxip UTSW 5 123445672 missense possibly damaging 0.52
R7718:Mlxip UTSW 5 123445514 missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- CTTAGGGGAACATCTTGCCAAATAC -3'
(R):5'- GCATCATGGGTAAGGGTTGC -3'

Sequencing Primer
(F):5'- GGGAACATCTTGCCAAATACAGCTC -3'
(R):5'- TGCAGAGGCTGTGTGGGTAATAAC -3'
Posted On2017-06-26