Incidental Mutation 'R4716:Mdfi'
ID 354086
Institutional Source Beutler Lab
Gene Symbol Mdfi
Ensembl Gene ENSMUSG00000032717
Gene Name MyoD family inhibitor
Synonyms I-mfa, I-mf
MMRRC Submission 041983-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R4716 (G1)
Quality Score 225
Status Not validated
Chromosome 17
Chromosomal Location 48126253-48145616 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to G at 48131906 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Alanine at position 106 (D106A)
Ref Sequence ENSEMBL: ENSMUSP00000069915 (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: D106A

PolyPhen 2 Score 0.732 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000037888
Gene: ENSMUSG00000032717
AA Change: D106A

DomainStartEndE-ValueType
Pfam:MDFI 71 246 7.1e-61 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000066368
AA Change: D106A

PolyPhen 2 Score 0.732 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000069915
Gene: ENSMUSG00000032717
AA Change: D106A

DomainStartEndE-ValueType
Pfam:MDFI 61 246 9.8e-54 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000113280
AA Change: D46A

PolyPhen 2 Score 0.075 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000108905
Gene: ENSMUSG00000032717
AA Change: D46A

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: D46A

PolyPhen 2 Score 0.454 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000120454
Gene: ENSMUSG00000032717
AA Change: D46A

DomainStartEndE-ValueType
Pfam:MDFI 14 143 6.9e-35 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000132125
AA Change: D106A

PolyPhen 2 Score 0.189 (Sensitivity: 0.92; Specificity: 0.87)
Predicted Effect probably benign
Transcript: ENSMUST00000152455
AA Change: D106A

PolyPhen 2 Score 0.189 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000117665
Gene: ENSMUSG00000032717
AA Change: D106A

DomainStartEndE-ValueType
low complexity region 138 153 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000140234
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.1%
  • 20x: 94.9%
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: 91 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abi3bp C T 16: 56,471,088 (GRCm39) R578* probably null Het
Adam8 T A 7: 139,563,851 (GRCm39) D717V probably benign Het
Aknad1 T C 3: 108,682,417 (GRCm39) probably null Het
Alk A T 17: 72,512,937 (GRCm39) W341R probably damaging Het
Ankdd1b G A 13: 96,591,091 (GRCm39) Q101* probably null Het
Anpep A C 7: 79,476,380 (GRCm39) S829A probably benign Het
Armh3 A G 19: 45,948,781 (GRCm39) S233P probably damaging Het
Ate1 A T 7: 130,115,511 (GRCm39) C72S probably damaging Het
Atp6v0a4 G A 6: 38,037,999 (GRCm39) L533F probably damaging Het
Bach1 T C 16: 87,512,267 (GRCm39) probably benign Het
Baz2b T C 2: 59,799,599 (GRCm39) D240G probably benign Het
Cdc14b C T 13: 64,357,014 (GRCm39) S21N probably damaging Het
Cdh3 A G 8: 107,270,520 (GRCm39) I466V probably benign Het
Cog1 A G 11: 113,547,923 (GRCm39) E137G probably damaging Het
Col4a2 A G 8: 11,452,224 (GRCm39) D180G probably damaging Het
Cyp2c40 A T 19: 39,791,105 (GRCm39) probably null Het
Dclk2 C T 3: 86,827,188 (GRCm39) R97H probably damaging Het
Ddx52 T C 11: 83,846,031 (GRCm39) probably null Het
Dhx58 C T 11: 100,587,797 (GRCm39) probably null Het
Dmp1 T A 5: 104,360,427 (GRCm39) S368T probably damaging Het
Dnah17 C A 11: 117,964,474 (GRCm39) V2435L probably benign Het
Dnajc7 A G 11: 100,510,402 (GRCm39) V10A probably benign Het
Dscam G T 16: 96,420,771 (GRCm39) T1705K possibly damaging Het
Dscaml1 G A 9: 45,361,890 (GRCm39) V217M probably damaging Het
Dync2h1 A G 9: 7,142,648 (GRCm39) probably null Het
F5 A G 1: 164,021,488 (GRCm39) D1321G probably damaging Het
Fam174a C T 1: 95,241,770 (GRCm39) P77S probably benign Het
Fars2 G A 13: 36,389,051 (GRCm39) R180H probably damaging Het
Fnbp1 T C 2: 30,945,532 (GRCm39) T154A probably benign Het
Fsip2 T A 2: 82,805,203 (GRCm39) N507K probably damaging Het
Glg1 G T 8: 111,887,407 (GRCm39) Y449* probably null Het
Gm15130 A T 2: 110,964,560 (GRCm39) Y187* probably null Het
Gm973 A T 1: 59,591,713 (GRCm39) K366* probably null Het
H2bc11 T A 13: 22,227,533 (GRCm39) V45E possibly damaging Het
Hao1 A G 2: 134,347,540 (GRCm39) I255T probably damaging Het
Herc6 T A 6: 57,575,423 (GRCm39) V148E probably damaging Het
Insm2 T A 12: 55,647,677 (GRCm39) C474S possibly damaging Het
Itch T C 2: 155,052,502 (GRCm39) probably null Het
Itga2 A G 13: 114,993,909 (GRCm39) V748A probably damaging Het
Itga9 T A 9: 118,510,826 (GRCm39) S452T probably damaging Het
Kdm4b C A 17: 56,693,178 (GRCm39) D338E probably benign Het
Krt40 G A 11: 99,431,045 (GRCm39) R155C probably damaging Het
Krtap16-1 A G 11: 99,876,000 (GRCm39) V468A probably damaging Het
Lactb2 G A 1: 13,708,619 (GRCm39) P143L probably damaging Het
Lrba C A 3: 86,550,021 (GRCm39) T2330K probably damaging Het
Lrp2bp A T 8: 46,466,208 (GRCm39) I106F probably benign Het
Luzp2 A G 7: 54,485,710 (GRCm39) K2E probably damaging Het
Lypd6 T C 2: 50,078,855 (GRCm39) probably null Het
Maml1 A T 11: 50,148,694 (GRCm39) D1015E probably benign Het
Olfm3 T C 3: 114,874,755 (GRCm39) M17T probably benign Het
Or2n1d A C 17: 38,646,731 (GRCm39) I228L possibly damaging Het
Or2o1 A G 11: 49,051,717 (GRCm39) Y292C probably damaging Het
Or8c16 T A 9: 38,130,714 (GRCm39) N198K probably damaging Het
Or8g30 A G 9: 39,230,725 (GRCm39) F62L probably benign Het
Otud7b T G 3: 96,058,227 (GRCm39) L261V probably damaging Het
P2ry1 A G 3: 60,910,893 (GRCm39) N11D probably damaging Het
Pate2 T C 9: 35,596,978 (GRCm39) probably benign Het
Pcdhb16 A T 18: 37,612,458 (GRCm39) T473S probably benign Het
Per1 A G 11: 68,992,057 (GRCm39) E137G probably damaging Het
Phf11d T C 14: 59,590,791 (GRCm39) T189A probably benign Het
Pik3r5 C A 11: 68,386,030 (GRCm39) S738R possibly damaging Het
Pikfyve A G 1: 65,285,635 (GRCm39) Y913C possibly damaging Het
Pkd1 T G 17: 24,795,107 (GRCm39) S2265A probably damaging Het
Pkhd1l1 C A 15: 44,419,428 (GRCm39) N2964K probably damaging Het
Plch1 T G 3: 63,688,967 (GRCm39) D79A probably damaging Het
Pnliprp1 A C 19: 58,728,901 (GRCm39) T363P possibly damaging Het
Ppp1r10 T A 17: 36,240,352 (GRCm39) D547E probably benign Het
Prkdc T A 16: 15,628,701 (GRCm39) I3482K probably benign Het
Ptpn4 A G 1: 119,649,598 (GRCm39) Y333H probably damaging Het
Ptpru T A 4: 131,548,279 (GRCm39) M73L probably benign Het
Rrp12 A G 19: 41,865,867 (GRCm39) Y698H probably damaging Het
Scaf8 T C 17: 3,227,398 (GRCm39) F338L unknown Het
Slc17a1 G T 13: 24,064,576 (GRCm39) V347L probably benign Het
Slc1a2 T A 2: 102,578,883 (GRCm39) V263E probably damaging Het
Slc29a4 T C 5: 142,704,327 (GRCm39) V327A probably benign Het
Slc6a3 A C 13: 73,705,195 (GRCm39) I229L probably benign Het
Sos2 T C 12: 69,654,145 (GRCm39) I703V probably benign Het
Srpk1 T C 17: 28,840,982 (GRCm39) T15A probably benign Het
St6gal2 A T 17: 55,817,367 (GRCm39) Q510L probably benign Het
Stk24 T C 14: 121,532,130 (GRCm39) D289G possibly damaging Het
Taf2 T G 15: 54,929,364 (GRCm39) K64T probably benign Het
Tbx3 A G 5: 119,813,735 (GRCm39) E257G possibly damaging Het
Tmem102 A T 11: 69,695,022 (GRCm39) F317I probably damaging Het
Trav10 A G 14: 53,743,497 (GRCm39) S33G possibly damaging Het
Ttn T A 2: 76,745,408 (GRCm39) I5214F probably damaging Het
Ube2f T A 1: 91,182,002 (GRCm39) L2Q probably damaging Het
Ube4b A G 4: 149,429,069 (GRCm39) F857L probably damaging Het
Vmn2r18 T A 5: 151,485,602 (GRCm39) I631F possibly damaging Het
Zfp280d T A 9: 72,219,947 (GRCm39) S241T possibly damaging Het
Zfp638 T A 6: 83,956,544 (GRCm39) L1717* probably null Het
Zfp719 A G 7: 43,240,535 (GRCm39) N708D possibly 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
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'- TTACCTTCCTGTGCCTGGAG -3'
(R):5'- GGTAAGGAAATGGGGTCTCC -3'

Sequencing Primer
(F):5'- CCTGGAGAGGGACCTGTGAG -3'
(R):5'- GGCCTCAGTTTCTCCATGTAAAGAAG -3'
Posted On 2015-10-21