Incidental Mutation 'R5299:Mdfi'
ID 405591
Institutional Source Beutler Lab
Gene Symbol Mdfi
Ensembl Gene ENSMUSG00000032717
Gene Name MyoD family inhibitor
Synonyms I-mfa, I-mf
MMRRC Submission 042882-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R5299 (G1)
Quality Score 225
Status Not validated
Chromosome 17
Chromosomal Location 48126253-48145616 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 48131759 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 95 (V95A)
Ref Sequence ENSEMBL: ENSMUSP00000108905 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000035375] [ENSMUST00000066368] [ENSMUST00000113280] [ENSMUST00000129360] [ENSMUST00000131971] [ENSMUST00000132125] [ENSMUST00000152455]
AlphaFold no structure available at present
Predicted Effect possibly damaging
Transcript: ENSMUST00000035375
AA Change: V155A

PolyPhen 2 Score 0.455 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000037888
Gene: ENSMUSG00000032717
AA Change: V155A

DomainStartEndE-ValueType
Pfam:MDFI 71 246 7.1e-61 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000066368
AA Change: V155A

PolyPhen 2 Score 0.455 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000069915
Gene: ENSMUSG00000032717
AA Change: V155A

DomainStartEndE-ValueType
Pfam:MDFI 61 246 9.8e-54 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000113280
AA Change: V95A

PolyPhen 2 Score 0.767 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000108905
Gene: ENSMUSG00000032717
AA Change: V95A

DomainStartEndE-ValueType
Pfam:MDFI 14 186 4.6e-62 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000125745
Predicted Effect probably benign
Transcript: ENSMUST00000129360
Predicted Effect possibly damaging
Transcript: ENSMUST00000131971
AA Change: V95A

PolyPhen 2 Score 0.737 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000120454
Gene: ENSMUSG00000032717
AA Change: V95A

DomainStartEndE-ValueType
Pfam:MDFI 14 143 6.9e-35 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000132125
Predicted Effect noncoding transcript
Transcript: ENSMUST00000140234
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: 99.2%
  • 3x: 98.5%
  • 10x: 96.7%
  • 20x: 93.5%
Validation Efficiency
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: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 A G 11: 9,381,861 (GRCm39) I3838V probably damaging Het
Arid1a A T 4: 133,414,537 (GRCm39) D1231E unknown Het
Atxn1 A T 13: 45,710,730 (GRCm39) I734K probably benign Het
Axin1 A G 17: 26,392,708 (GRCm39) S330G probably damaging Het
Bend3 G A 10: 43,369,686 (GRCm39) probably null Het
Chodl C T 16: 78,738,296 (GRCm39) T88I probably damaging Het
Dnah2 C T 11: 69,349,746 (GRCm39) R2399Q probably benign Het
Dst A G 1: 34,174,173 (GRCm39) I179M probably damaging Het
Ehmt2 C T 17: 35,118,067 (GRCm39) R40* probably null Het
Exoc2 A T 13: 31,055,901 (GRCm39) probably null Het
Grk2 T C 19: 4,342,799 (GRCm39) E45G probably damaging Het
Ift81 T C 5: 122,745,119 (GRCm39) Y144C probably damaging Het
Ighv1-15 T C 12: 114,620,998 (GRCm39) D109G probably damaging Het
Igtp T C 11: 58,097,959 (GRCm39) W377R possibly damaging Het
Lgr6 C T 1: 134,921,748 (GRCm39) A199T probably damaging Het
Map2k6 A G 11: 110,383,789 (GRCm39) D145G probably benign Het
Mcph1 T C 8: 18,702,596 (GRCm39) probably benign Het
Mical3 A G 6: 120,936,473 (GRCm39) L1351P possibly damaging Het
Nbas C T 12: 13,491,926 (GRCm39) Q1506* probably null Het
Nelfb A G 2: 25,100,757 (GRCm39) V128A probably benign Het
Otog A G 7: 45,938,275 (GRCm39) T1995A probably benign Het
Ppp1r7 A T 1: 93,280,348 (GRCm39) I139L probably benign Het
Ppp2r1b A G 9: 50,768,340 (GRCm39) D19G probably benign Het
Proca1 T C 11: 78,096,078 (GRCm39) S150P probably damaging Het
Rhof A G 5: 123,258,611 (GRCm39) V100A probably damaging Het
Rsbn1 G C 3: 103,821,806 (GRCm39) G14R probably benign Het
Serinc1 A G 10: 57,399,147 (GRCm39) I252T probably damaging Het
Skint4 A T 4: 111,993,203 (GRCm39) I309F possibly damaging Het
Slc12a3 A G 8: 95,078,417 (GRCm39) Y815C probably damaging Het
Slc25a24 A G 3: 109,073,668 (GRCm39) S424G probably benign Het
Spint2 G A 7: 28,963,151 (GRCm39) A49V probably damaging Het
Traf3ip3 T A 1: 192,860,483 (GRCm39) K480* probably null Het
Ube2g2 T C 10: 77,480,379 (GRCm39) S162P possibly damaging Het
Ubxn8 C A 8: 34,131,947 (GRCm39) V7L possibly damaging Het
Vmn1r200 T A 13: 22,579,945 (GRCm39) C249* probably null Het
Vmn1r38 T A 6: 66,753,682 (GRCm39) T145S probably benign Het
Wapl G A 14: 34,455,765 (GRCm39) probably null Het
Wfdc6a T C 2: 164,422,311 (GRCm39) N96S possibly damaging Het
Zfp503 A G 14: 22,035,507 (GRCm39) S470P probably benign Het
Other mutations in Mdfi
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0711:Mdfi UTSW 17 48,143,855 (GRCm39) splice site probably benign
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
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'- ATGATTCACTGGGGCTGGA -3'
(R):5'- ACCCCACTACTGCCAAATGG -3'

Sequencing Primer
(F):5'- AAACTCGGGTCGTGGCAATTC -3'
(R):5'- GCTCCAGCCACGACCAC -3'
Posted On 2016-07-22