Incidental Mutation 'R3623:Mdfic'
ID 268711
Institutional Source Beutler Lab
Gene Symbol Mdfic
Ensembl Gene ENSMUSG00000041390
Gene Name MyoD family inhibitor domain containing
Synonyms Kdt1, clone 1.5
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.361) question?
Stock # R3623 (G1)
Quality Score 225
Status Validated
Chromosome 6
Chromosomal Location 15720660-15802168 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 15770319 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Lysine at position 108 (N108K)
Ref Sequence ENSEMBL: ENSMUSP00000139704 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000101663] [ENSMUST00000120512] [ENSMUST00000125326] [ENSMUST00000128849] [ENSMUST00000140516] [ENSMUST00000189359] [ENSMUST00000190255]
AlphaFold Q8BX65
Predicted Effect probably damaging
Transcript: ENSMUST00000101663
AA Change: N108K

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000099186
Gene: ENSMUSG00000041390
AA Change: N108K

DomainStartEndE-ValueType
Pfam:MDFI 74 247 7.3e-74 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000120512
AA Change: N108K

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000113050
Gene: ENSMUSG00000041390
AA Change: N108K

DomainStartEndE-ValueType
Pfam:MDFI 74 247 1.6e-76 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000125326
AA Change: N108K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000139704
Gene: ENSMUSG00000041390
AA Change: N108K

DomainStartEndE-ValueType
Pfam:MDFI 74 175 6e-16 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000128849
AA Change: N103K

PolyPhen 2 Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)
Predicted Effect probably benign
Transcript: ENSMUST00000140516
Predicted Effect probably damaging
Transcript: ENSMUST00000189359
AA Change: N108K

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000140208
Gene: ENSMUSG00000041390
AA Change: N108K

DomainStartEndE-ValueType
Pfam:MDFI 74 247 1.6e-76 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000190255
AA Change: N190K

PolyPhen 2 Score 0.946 (Sensitivity: 0.80; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000140641
Gene: ENSMUSG00000041390
AA Change: N190K

DomainStartEndE-ValueType
low complexity region 7 19 N/A INTRINSIC
Pfam:MDFI 156 329 8.8e-73 PFAM
Meta Mutation Damage Score 0.0932 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 97.1%
  • 20x: 94.6%
Validation Efficiency 100% (69/69)
MGI Phenotype FUNCTION: This gene product is a member of a family of proteins characterized by a specific cysteine-rich C-terminal domain, which is involved in transcriptional regulation of viral genome expression. Alternative translation initiation from an upstream non-AUG (GUG), and an in-frame, downstream AUG codon, results in the production of two isoforms, which in human have been shown to have different subcellular localization. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 71 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adcy1 A G 11: 7,080,348 (GRCm39) T364A probably benign Het
Adpgk G A 9: 59,221,036 (GRCm39) V281I probably benign Het
Akap9 C A 5: 4,026,235 (GRCm39) Q1297K possibly damaging Het
Ankrd13d T C 19: 4,331,968 (GRCm39) E110G probably damaging Het
Ankrd53 A G 6: 83,740,244 (GRCm39) E104G possibly damaging Het
Becn2 T C 1: 175,748,197 (GRCm39) C88R possibly damaging Het
Bscl2 T A 19: 8,818,514 (GRCm39) C40S probably benign Het
Btaf1 A G 19: 36,958,486 (GRCm39) T668A probably benign Het
Camk2g G A 14: 20,805,775 (GRCm39) probably benign Het
Cd109 A T 9: 78,574,639 (GRCm39) D541V probably damaging Het
Cep135 G A 5: 76,772,586 (GRCm39) G657D probably benign Het
Coch A G 12: 51,649,609 (GRCm39) I307V probably benign Het
D17H6S53E A G 17: 35,346,512 (GRCm39) E141G probably benign Het
Ddias T C 7: 92,508,800 (GRCm39) T372A probably benign Het
Dffb T C 4: 154,049,976 (GRCm39) T296A probably damaging Het
Dock8 A G 19: 25,057,241 (GRCm39) Q216R probably benign Het
Ep400 T C 5: 110,867,102 (GRCm39) Y1014C unknown Het
Ephx1 A G 1: 180,817,498 (GRCm39) I391T probably benign Het
Fcgbp A G 7: 27,800,701 (GRCm39) Y1249C probably damaging Het
Gm5592 T C 7: 40,807,052 (GRCm39) probably benign Het
Gm7964 A G 7: 83,405,629 (GRCm39) N149S probably benign Het
Greb1l T A 18: 10,542,380 (GRCm39) I1325N probably damaging Het
H2-T3 T C 17: 36,500,957 (GRCm39) T20A possibly damaging Het
Htr1d T C 4: 136,170,815 (GRCm39) I348T probably damaging Het
Hyal4 A T 6: 24,765,737 (GRCm39) S364C probably damaging Het
Igkv1-133 A T 6: 67,701,944 (GRCm39) Q16L probably benign Het
Irs2 C T 8: 11,057,643 (GRCm39) G263D probably damaging Het
Itga10 C T 3: 96,559,054 (GRCm39) probably benign Het
Kmt2a A G 9: 44,760,263 (GRCm39) Y529H probably damaging Het
Met A T 6: 17,549,085 (GRCm39) D979V probably damaging Het
Mettl21e T A 1: 44,245,857 (GRCm39) I130F probably damaging Het
Mlh3 C T 12: 85,315,169 (GRCm39) C339Y probably damaging Het
Mog T C 17: 37,323,338 (GRCm39) H200R possibly damaging Het
Msrb3 C T 10: 120,620,103 (GRCm39) R72H probably damaging Het
Mtmr11 A G 3: 96,072,583 (GRCm39) H324R probably damaging Het
Myh7 T C 14: 55,210,838 (GRCm39) E1693G probably damaging Het
Nadk2 T A 15: 9,084,303 (GRCm39) W139R probably damaging Het
Ndufa9 A T 6: 126,821,362 (GRCm39) M76K possibly damaging Het
Nr1i2 A G 16: 38,086,269 (GRCm39) probably benign Het
Nsd3 A G 8: 26,152,835 (GRCm39) T392A probably damaging Het
Or14a259 A G 7: 86,013,308 (GRCm39) F79S probably benign Het
Or52d3 T C 7: 104,229,149 (GRCm39) S99P probably damaging Het
P2ry2 A T 7: 100,647,706 (GRCm39) S200T probably benign Het
Pcnt T A 10: 76,269,584 (GRCm39) E228V probably benign Het
Phka2 T A X: 159,327,291 (GRCm39) Y334* probably null Het
Pkhd1l1 A T 15: 44,390,265 (GRCm39) K1460N probably damaging Het
Rpl7a-ps3 G A 15: 36,308,429 (GRCm39) noncoding transcript Het
Rspry1 A G 8: 95,376,405 (GRCm39) D309G probably damaging Het
Scap A G 9: 110,209,271 (GRCm39) Y648C probably damaging Het
Sgcz T C 8: 38,420,201 (GRCm39) E17G probably damaging Het
Slc17a5 A T 9: 78,445,556 (GRCm39) V433D probably damaging Het
Smad9 C T 3: 54,696,705 (GRCm39) R257W probably damaging Het
Srcap T C 7: 127,141,319 (GRCm39) S1639P probably damaging Het
Strn3 T C 12: 51,707,999 (GRCm39) Y132C possibly damaging Het
Tas2r110 A T 6: 132,845,433 (GRCm39) M155L probably benign Het
Tasor2 T C 13: 3,645,556 (GRCm39) T98A probably benign Het
Thbd A G 2: 148,248,893 (GRCm39) V325A probably damaging Het
Trpd52l3 T A 19: 29,981,333 (GRCm39) C29* probably null Het
Trpm1 A G 7: 63,894,601 (GRCm39) Y951C probably damaging Het
Ube3a T A 7: 58,921,860 (GRCm39) N77K probably damaging Het
Upp2 G A 2: 58,680,128 (GRCm39) R300Q possibly damaging Het
Usp35 T C 7: 96,961,827 (GRCm39) H533R probably damaging Het
Veph1 C T 3: 66,122,858 (GRCm39) V224I probably benign Het
Vmn1r30 A T 6: 58,412,437 (GRCm39) F132I probably benign Het
Vmn2r24 A G 6: 123,792,997 (GRCm39) R775G probably damaging Het
Vps13c T A 9: 67,883,189 (GRCm39) probably null Het
Vps37c T A 19: 10,683,569 (GRCm39) probably null Het
Zap70 C T 1: 36,818,216 (GRCm39) T301I probably benign Het
Zfp341 A G 2: 154,466,801 (GRCm39) K57E probably damaging Het
Zfp60 T A 7: 27,448,753 (GRCm39) F474I probably benign Het
Zfp786 T C 6: 47,798,357 (GRCm39) N194D probably benign Het
Other mutations in Mdfic
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00579:Mdfic APN 6 15,741,073 (GRCm39) missense possibly damaging 0.95
IGL02184:Mdfic APN 6 15,770,366 (GRCm39) missense possibly damaging 0.76
IGL03104:Mdfic APN 6 15,770,319 (GRCm39) missense probably damaging 1.00
IGL03177:Mdfic APN 6 15,770,450 (GRCm39) missense probably damaging 1.00
R0521:Mdfic UTSW 6 15,799,755 (GRCm39) missense probably benign 0.07
R1549:Mdfic UTSW 6 15,799,844 (GRCm39) missense probably damaging 1.00
R1613:Mdfic UTSW 6 15,799,589 (GRCm39) splice site probably null
R2496:Mdfic UTSW 6 15,741,041 (GRCm39) missense possibly damaging 0.92
R3087:Mdfic UTSW 6 15,799,668 (GRCm39) missense probably damaging 1.00
R3887:Mdfic UTSW 6 15,799,710 (GRCm39) missense probably damaging 1.00
R4736:Mdfic UTSW 6 15,741,019 (GRCm39) missense possibly damaging 0.79
R5704:Mdfic UTSW 6 15,770,291 (GRCm39) missense probably damaging 1.00
R6187:Mdfic UTSW 6 15,721,196 (GRCm39) utr 5 prime probably benign
R6501:Mdfic UTSW 6 15,770,516 (GRCm39) missense possibly damaging 0.48
R6517:Mdfic UTSW 6 15,770,324 (GRCm39) missense probably damaging 1.00
R6521:Mdfic UTSW 6 15,729,027 (GRCm39) intron probably benign
R7761:Mdfic UTSW 6 15,728,055 (GRCm39) missense unknown
R7959:Mdfic UTSW 6 15,741,070 (GRCm39) missense possibly damaging 0.84
R8196:Mdfic UTSW 6 15,740,989 (GRCm39) missense probably benign 0.45
R8345:Mdfic UTSW 6 15,799,653 (GRCm39) missense probably damaging 1.00
R8690:Mdfic UTSW 6 15,799,653 (GRCm39) missense probably damaging 1.00
R9491:Mdfic UTSW 6 15,799,852 (GRCm39) nonsense probably null
R9497:Mdfic UTSW 6 15,770,508 (GRCm39) missense probably benign 0.27
R9497:Mdfic UTSW 6 15,720,852 (GRCm39) missense unknown
R9718:Mdfic UTSW 6 15,770,514 (GRCm39) missense probably damaging 1.00
R9755:Mdfic UTSW 6 15,799,758 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TCATCATGGGTTAGATCTCAAGTC -3'
(R):5'- ATGCACATCGATGTCCCACTC -3'

Sequencing Primer
(F):5'- TGAACGTCTGCCTCAACT -3'
(R):5'- GATGTCCCACTCACCTTCGGG -3'
Posted On 2015-02-19