Incidental Mutation 'R8085:Mdfi'
ID 629625
Institutional Source Beutler Lab
Gene Symbol Mdfi
Ensembl Gene ENSMUSG00000032717
Gene Name MyoD family inhibitor
Synonyms I-mfa, I-mf
MMRRC Submission 067518-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R8085 (G1)
Quality Score 225.009
Status Validated
Chromosome 17
Chromosomal Location 48126253-48145616 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 48127042 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 178 (T178A)
Ref Sequence ENSEMBL: ENSMUSP00000037888 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000035375] [ENSMUST00000066368] [ENSMUST00000113280] [ENSMUST00000131971] [ENSMUST00000132125] [ENSMUST00000152455]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000035375
AA Change: T178A

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000037888
Gene: ENSMUSG00000032717
AA Change: T178A

DomainStartEndE-ValueType
Pfam:MDFI 71 246 7.1e-61 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000066368
AA Change: T178A

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000069915
Gene: ENSMUSG00000032717
AA Change: T178A

DomainStartEndE-ValueType
Pfam:MDFI 61 246 9.8e-54 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000113280
AA Change: T118A

PolyPhen 2 Score 0.684 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000108905
Gene: ENSMUSG00000032717
AA Change: T118A

DomainStartEndE-ValueType
Pfam:MDFI 14 186 4.6e-62 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000131971
AA Change: T118A

PolyPhen 2 Score 0.684 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000120454
Gene: ENSMUSG00000032717
AA Change: T118A

DomainStartEndE-ValueType
Pfam:MDFI 14 143 6.9e-35 PFAM
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: 99.9%
  • 3x: 99.7%
  • 10x: 98.9%
  • 20x: 96.0%
Validation Efficiency 99% (81/82)
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: 72 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts8 G T 9: 30,854,611 (GRCm39) R160L probably benign Het
Atp11b T C 3: 35,895,185 (GRCm39) S908P probably benign Het
AW146154 C T 7: 41,130,621 (GRCm39) G165D possibly damaging Het
AW146154 C A 7: 41,130,622 (GRCm39) G165C probably damaging Het
Cachd1 G A 4: 100,845,361 (GRCm39) G951D probably damaging Het
Clstn3 T C 6: 124,435,683 (GRCm39) N250D probably benign Het
Coch G C 12: 51,650,031 (GRCm39) G340A possibly damaging Het
Col18a1 A G 10: 76,924,741 (GRCm39) V226A unknown Het
Crocc2 G A 1: 93,130,578 (GRCm39) R953Q possibly damaging Het
Dgkh A T 14: 78,824,558 (GRCm39) probably null Het
Disp2 C T 2: 118,617,452 (GRCm39) L149F possibly damaging Het
Dpt T C 1: 164,650,756 (GRCm39) F186S probably damaging Het
Eif3l T G 15: 78,961,066 (GRCm39) Y40D probably damaging Het
Epha3 A C 16: 63,403,873 (GRCm39) Y743D probably damaging Het
Ercc6l2 A T 13: 63,992,367 (GRCm39) Y272F probably benign Het
Exoc2 G A 13: 31,124,686 (GRCm39) L9F probably damaging Het
Fkbp9 A G 6: 56,833,289 (GRCm39) T259A probably benign Het
Gm5622 A T 14: 51,895,201 (GRCm39) K120M probably damaging Het
Hectd1 A T 12: 51,795,679 (GRCm39) F2250Y probably damaging Het
Herc2 A G 7: 55,879,427 (GRCm39) I4682V probably benign Het
Hnf1a T C 5: 115,108,732 (GRCm39) T58A probably benign Het
Kctd1 T A 18: 15,140,901 (GRCm39) I610F possibly damaging Het
Kif5a A T 10: 127,075,178 (GRCm39) D478E probably benign Het
Klf13 G T 7: 63,541,497 (GRCm39) A210E probably damaging Het
Klhl20 C A 1: 160,921,354 (GRCm39) G543C probably damaging Het
Krt78 T C 15: 101,855,715 (GRCm39) T699A possibly damaging Het
Lgr5 A T 10: 115,311,102 (GRCm39) D231E probably benign Het
Lonrf1 C A 8: 36,715,769 (GRCm39) G289W probably damaging Het
Lyst T C 13: 13,808,894 (GRCm39) L188P probably damaging Het
Mab21l2 T C 3: 86,455,393 (GRCm39) probably benign Het
Macf1 A G 4: 123,303,875 (GRCm39) V209A possibly damaging Het
Mctp1 A C 13: 76,972,972 (GRCm39) R658S probably benign Het
Msln T A 17: 25,971,942 (GRCm39) K92* probably null Het
Msx3 T C 7: 139,627,998 (GRCm39) H113R unknown Het
Muc6 T A 7: 141,226,729 (GRCm39) T1433S unknown Het
Musk T A 4: 58,373,110 (GRCm39) S693R probably benign Het
Myh13 A G 11: 67,225,613 (GRCm39) K296R probably benign Het
Mylip A T 13: 45,563,928 (GRCm39) H427L possibly damaging Het
Nradd G T 9: 110,451,179 (GRCm39) T63K possibly damaging Het
Ntaq1 T G 15: 58,015,983 (GRCm39) probably null Het
Or5h17 A G 16: 58,820,432 (GRCm39) N128S probably benign Het
Or5p66 G T 7: 107,885,620 (GRCm39) Q238K probably benign Het
Osbp2 A G 11: 3,662,521 (GRCm39) L187P probably damaging Het
Oxct1 A G 15: 4,158,350 (GRCm39) D428G probably damaging Het
Oxsm G T 14: 16,242,439 (GRCm38) S110* probably null Het
Pard6a A G 8: 106,429,642 (GRCm39) Q230R probably damaging Het
Pkhd1 C A 1: 20,683,639 (GRCm39) W38L probably damaging Het
Plekhh2 A G 17: 84,905,384 (GRCm39) N1093D probably damaging Het
Rttn C T 18: 89,071,672 (GRCm39) Q1240* probably null Het
Serpina1d T C 12: 103,730,087 (GRCm39) E365G probably damaging Het
Sis A T 3: 72,814,462 (GRCm39) H1589Q probably damaging Het
Slc40a1 A T 1: 45,957,528 (GRCm39) I152N probably damaging Het
Slc44a5 C T 3: 153,928,414 (GRCm39) P59S probably damaging Het
Smarca4 T A 9: 21,570,108 (GRCm39) probably null Het
Smim33 A T 18: 35,861,573 (GRCm39) D19V probably benign Het
Spag9 A G 11: 93,989,870 (GRCm39) Y930C probably benign Het
Speg A G 1: 75,391,997 (GRCm39) E1593G probably damaging Het
St3gal5 G T 6: 72,074,925 (GRCm39) A62S unknown Het
Stx1a T C 5: 135,066,431 (GRCm39) probably null Het
Syne1 T A 10: 5,178,021 (GRCm39) I4818F possibly damaging Het
Tango6 A G 8: 107,447,366 (GRCm39) H588R probably benign Het
Tapt1 T C 5: 44,336,307 (GRCm39) Y454C probably damaging Het
Tep1 A G 14: 51,066,753 (GRCm39) Y2282H probably benign Het
Tle6 A T 10: 81,431,792 (GRCm39) W151R probably damaging Het
Tmem131l A T 3: 83,834,438 (GRCm39) M715K possibly damaging Het
Ubr1 T A 2: 120,764,898 (GRCm39) R519* probably null Het
Usp1 A T 4: 98,816,578 (GRCm39) N93I probably damaging Het
Vmn1r211 A T 13: 23,035,953 (GRCm39) M238K probably damaging Het
Vmn1r238 A G 18: 3,123,151 (GRCm39) Y88H probably damaging Het
Vmn2r62 A G 7: 42,437,270 (GRCm39) Y405H probably damaging Het
Vmn2r78 A G 7: 86,603,998 (GRCm39) I725M probably benign Het
Zfp12 C T 5: 143,230,681 (GRCm39) T368M probably damaging 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
R5299:Mdfi UTSW 17 48,131,759 (GRCm39) missense possibly damaging 0.77
R9049:Mdfi UTSW 17 48,135,479 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- CTCCATGCATATCTCCAAGCAG -3'
(R):5'- AGGCTCTCCTGATGTAGACG -3'

Sequencing Primer
(F):5'- ATGCATATCTCCAAGCAGTCTGC -3'
(R):5'- TCTCCTGATGTAGACGGCCTG -3'
Posted On 2020-06-30