Incidental Mutation 'R0711:Mdfi'
ID 218653
Institutional Source Beutler Lab
Gene Symbol Mdfi
Ensembl Gene ENSMUSG00000032717
Gene Name MyoD family inhibitor
Synonyms I-mfa, I-mf
MMRRC Submission 038894-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R0711 (G1)
Quality Score 30
Status Validated
Chromosome 17
Chromosomal Location 48126253-48145616 bp(-) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) A to T at 48143855 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000117665 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000035375] [ENSMUST00000066368] [ENSMUST00000113280] [ENSMUST00000129360] [ENSMUST00000131971] [ENSMUST00000132125] [ENSMUST00000152455]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000035375
SMART Domains Protein: ENSMUSP00000037888
Gene: ENSMUSG00000032717

DomainStartEndE-ValueType
Pfam:MDFI 71 246 7.1e-61 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000066368
SMART Domains Protein: ENSMUSP00000069915
Gene: ENSMUSG00000032717

DomainStartEndE-ValueType
Pfam:MDFI 61 246 9.8e-54 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000113280
SMART Domains Protein: ENSMUSP00000108905
Gene: ENSMUSG00000032717

DomainStartEndE-ValueType
Pfam:MDFI 14 186 4.6e-62 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000125745
Predicted Effect probably benign
Transcript: ENSMUST00000129360
Predicted Effect probably benign
Transcript: ENSMUST00000131971
SMART Domains Protein: ENSMUSP00000120454
Gene: ENSMUSG00000032717

DomainStartEndE-ValueType
Pfam:MDFI 14 143 6.9e-35 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000140234
Predicted Effect probably benign
Transcript: ENSMUST00000132125
Predicted Effect probably benign
Transcript: ENSMUST00000152455
SMART Domains Protein: ENSMUSP00000117665
Gene: ENSMUSG00000032717

DomainStartEndE-ValueType
low complexity region 138 153 N/A INTRINSIC
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.4%
  • 20x: 91.4%
Validation Efficiency 100% (91/91)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This protein is a transcription factor that negatively regulates other myogenic family proteins. Studies of the mouse homolog, I-mf, show that it interferes with myogenic factor function by masking nuclear localization signals and preventing DNA binding. Knockout mouse studies show defects in the formation of vertebrae and ribs that also involve cartilage formation in these structures. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygotes for a targeted null mutation on a C57BL/6 background exhibit a placental defect and die around embryonic day 10.5, but on a 129/Sv background, mutants survive to adulthood and show delayed caudal neural tube closure and skeletal abnormalities. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 68 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110002E22Rik T A 3: 137,773,986 (GRCm39) D1058E probably damaging Het
4933405L10Rik A T 8: 106,435,563 (GRCm39) probably null Het
Adamtsl3 T A 7: 82,114,907 (GRCm39) probably benign Het
Afdn C T 17: 14,072,698 (GRCm39) P874S probably damaging Het
Ankrd6 G A 4: 32,815,326 (GRCm39) A391V probably damaging Het
Arhgef28 T G 13: 98,067,762 (GRCm39) T1388P probably damaging Het
Asxl3 G T 18: 22,657,508 (GRCm39) M1839I probably benign Het
BC005537 T C 13: 24,989,923 (GRCm39) F129L probably damaging Het
Celf2 A G 2: 6,726,226 (GRCm39) probably null Het
Chid1 C T 7: 141,076,590 (GRCm39) V325I probably benign Het
Cnn3 T A 3: 121,243,633 (GRCm39) D31E probably benign Het
Col12a1 G A 9: 79,559,317 (GRCm39) P1857L probably damaging Het
Cpeb1 T A 7: 81,001,618 (GRCm39) R430W probably benign Het
Daw1 T C 1: 83,169,059 (GRCm39) probably benign Het
Dcaf13 A G 15: 39,001,484 (GRCm39) Y264C probably damaging Het
Dnah6 T C 6: 73,064,585 (GRCm39) I2666V probably damaging Het
Dnai2 A C 11: 114,645,158 (GRCm39) D531A probably benign Het
Dock10 A T 1: 80,501,692 (GRCm39) F1833I probably damaging Het
Efhd2 C T 4: 141,587,183 (GRCm39) A200T probably damaging Het
Epb41l5 T A 1: 119,551,641 (GRCm39) probably benign Het
Ermp1 A G 19: 29,608,788 (GRCm39) Y164H possibly damaging Het
Gkn2 T C 6: 87,350,401 (GRCm39) probably benign Het
Golgb1 A T 16: 36,739,152 (GRCm39) Q2497L probably damaging Het
Gzme A T 14: 56,355,196 (GRCm39) M245K probably damaging Het
Iars2 A T 1: 185,054,585 (GRCm39) probably benign Het
Icosl T A 10: 77,909,775 (GRCm39) V240D probably damaging Het
Igsf3 T C 3: 101,334,709 (GRCm39) M262T probably benign Het
Ing3 G T 6: 21,971,236 (GRCm39) E336* probably null Het
Kat2a A T 11: 100,597,297 (GRCm39) V625E probably damaging Het
Ksr1 A G 11: 78,929,073 (GRCm39) probably benign Het
Lypd8 A T 11: 58,277,583 (GRCm39) M122L probably benign Het
Med13 A G 11: 86,192,179 (GRCm39) probably benign Het
Msh6 C T 17: 88,294,112 (GRCm39) R956C probably damaging Het
Myo15b A G 11: 115,774,664 (GRCm39) E670G probably damaging Het
Myo1d A G 11: 80,375,158 (GRCm39) L972P probably damaging Het
Or4s2b A G 2: 88,509,018 (GRCm39) D266G probably damaging Het
Or51ai2 G A 7: 103,587,024 (GRCm39) A146T probably benign Het
Or7g12 T A 9: 18,899,447 (GRCm39) N54K probably benign Het
Pde8b C G 13: 95,244,325 (GRCm39) S143T possibly damaging Het
Pias4 G T 10: 80,993,364 (GRCm39) probably benign Het
Prkca A G 11: 107,872,480 (GRCm39) Y427H probably benign Het
Psg25 G A 7: 18,263,485 (GRCm39) Q113* probably null Het
Rab3gap2 T A 1: 184,982,123 (GRCm39) S392T probably damaging Het
Scrib A G 15: 75,938,756 (GRCm39) probably benign Het
Sdk2 A G 11: 113,793,970 (GRCm39) probably benign Het
Serpinb1c T A 13: 33,070,266 (GRCm39) probably benign Het
Serpinb9f T A 13: 33,511,904 (GRCm39) W136R probably damaging Het
Skic3 C T 13: 76,331,010 (GRCm39) P1480L probably damaging Het
Skint10 C A 4: 112,573,102 (GRCm39) probably benign Het
Slc25a13 T C 6: 6,117,128 (GRCm39) T196A probably damaging Het
Slc26a5 T C 5: 22,052,230 (GRCm39) H33R probably damaging Het
Slc27a6 T C 18: 58,731,829 (GRCm39) probably benign Het
Slitrk6 A T 14: 110,987,251 (GRCm39) Y819N probably damaging Het
Spata46 C T 1: 170,139,603 (GRCm39) Q201* probably null Het
Sptbn1 A T 11: 30,064,739 (GRCm39) V1920E probably damaging Het
Taf6l A G 19: 8,755,881 (GRCm39) F256L probably benign Het
Tmco3 T A 8: 13,342,039 (GRCm39) N104K probably damaging Het
Tmem200c A G 17: 69,149,249 (GRCm39) T611A probably damaging Het
Tmem202 T G 9: 59,432,655 (GRCm39) Y24S probably damaging Het
Tpp1 A G 7: 105,398,626 (GRCm39) L230P probably damaging Het
Trim56 C T 5: 137,141,846 (GRCm39) E557K probably benign Het
Trrap C T 5: 144,790,309 (GRCm39) L3590F probably damaging Het
Tulp4 A G 17: 6,189,387 (GRCm39) T70A possibly damaging Het
Vcp G C 4: 42,986,201 (GRCm39) A297G probably benign Het
Vwf T A 6: 125,603,234 (GRCm39) H861Q probably benign Het
Wdr64 T C 1: 175,599,751 (GRCm39) I536T probably benign Het
Zfp850 T C 7: 27,689,698 (GRCm39) N170S probably benign Het
Zfp87 G A 13: 74,524,544 (GRCm39) probably benign Het
Other mutations in Mdfi
AlleleSourceChrCoordTypePredicted EffectPPH Score
R2104:Mdfi UTSW 17 48,135,562 (GRCm39) missense possibly damaging 0.90
R4710:Mdfi UTSW 17 48,135,511 (GRCm39) missense probably damaging 0.99
R4716:Mdfi UTSW 17 48,131,906 (GRCm39) missense possibly damaging 0.73
R4768:Mdfi UTSW 17 48,135,475 (GRCm39) missense probably damaging 1.00
R5299:Mdfi UTSW 17 48,131,759 (GRCm39) missense possibly damaging 0.77
R8085:Mdfi UTSW 17 48,127,042 (GRCm39) missense probably damaging 1.00
R9049:Mdfi UTSW 17 48,135,479 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- ACCTGGTCCCCAATACTGAGACTTC -3'
(R):5'- AAGGAAAACATGCGGCCCCTTG -3'

Sequencing Primer
(F):5'- ATACTGAGACTTCCCATCCCC -3'
(R):5'- gagagaaggaagaaggaaggg -3'
Posted On 2014-08-18