Incidental Mutation 'R6521:Mdfic'
ID 543421
Institutional Source Beutler Lab
Gene Symbol Mdfic
Ensembl Gene ENSMUSG00000041390
Gene Name MyoD family inhibitor domain containing
Synonyms Kdt1, clone 1.5
MMRRC Submission 044647-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.361) question?
Stock # R6521 (G1)
Quality Score 225.009
Status Validated
Chromosome 6
Chromosomal Location 15720660-15802168 bp(+) (GRCm39)
Type of Mutation intron
DNA Base Change (assembly) T to A at 15729027 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000140641 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000101663] [ENSMUST00000120512] [ENSMUST00000125326] [ENSMUST00000128849] [ENSMUST00000140516] [ENSMUST00000189359] [ENSMUST00000190255]
AlphaFold Q8BX65
Predicted Effect probably benign
Transcript: ENSMUST00000101663
SMART Domains Protein: ENSMUSP00000099186
Gene: ENSMUSG00000041390

DomainStartEndE-ValueType
Pfam:MDFI 74 247 7.3e-74 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000120512
SMART Domains Protein: ENSMUSP00000113050
Gene: ENSMUSG00000041390

DomainStartEndE-ValueType
Pfam:MDFI 74 247 1.6e-76 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000125326
SMART Domains Protein: ENSMUSP00000139704
Gene: ENSMUSG00000041390

DomainStartEndE-ValueType
Pfam:MDFI 74 175 6e-16 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000128849
Predicted Effect unknown
Transcript: ENSMUST00000140516
AA Change: H36Q
Predicted Effect probably benign
Transcript: ENSMUST00000189359
SMART Domains Protein: ENSMUSP00000140208
Gene: ENSMUSG00000041390

DomainStartEndE-ValueType
Pfam:MDFI 74 247 1.6e-76 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000190255
SMART Domains Protein: ENSMUSP00000140641
Gene: ENSMUSG00000041390

DomainStartEndE-ValueType
low complexity region 7 19 N/A INTRINSIC
Pfam:MDFI 156 329 8.8e-73 PFAM
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.5%
  • 10x: 97.5%
  • 20x: 92.0%
Validation Efficiency 100% (48/48)
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: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aars1 T A 8: 111,769,968 (GRCm39) S356T probably benign Het
Acsbg2 T C 17: 57,168,565 (GRCm39) M185V probably benign Het
Adgrv1 A T 13: 81,581,771 (GRCm39) F4758I probably damaging Het
Ank3 A G 10: 69,828,596 (GRCm39) probably benign Het
Ankfy1 G A 11: 72,621,308 (GRCm39) R198Q possibly damaging Het
Ano4 A G 10: 88,819,640 (GRCm39) V537A probably damaging Het
Catsper2 A G 2: 121,237,288 (GRCm39) L204P probably damaging Het
Cdh20 A C 1: 104,869,859 (GRCm39) D193A probably damaging Het
Ceacam5 T C 7: 17,484,756 (GRCm39) probably null Het
Celf4 T A 18: 25,612,531 (GRCm39) probably null Het
Cfap91 A G 16: 38,127,121 (GRCm39) V545A probably benign Het
Crebbp A T 16: 3,936,992 (GRCm39) F754I probably damaging Het
Cyfip2 A T 11: 46,145,415 (GRCm39) I635N probably damaging Het
Erbb4 T A 1: 68,081,689 (GRCm39) D1131V probably damaging Het
Fsip2 A G 2: 82,820,430 (GRCm39) T5388A possibly damaging Het
Hoxc8 G A 15: 102,901,135 (GRCm39) V193M probably benign Het
Klhdc3 A G 17: 46,988,687 (GRCm39) V124A probably benign Het
Klhl18 A G 9: 110,257,703 (GRCm39) I509T possibly damaging Het
Mkln1 T A 6: 31,467,479 (GRCm39) D64E probably damaging Het
Mmd2 A G 5: 142,560,585 (GRCm39) I112T probably damaging Het
Mpl C T 4: 118,312,314 (GRCm39) probably null Het
Mtmr4 A G 11: 87,504,353 (GRCm39) T1044A possibly damaging Het
Muc5b C A 7: 141,412,908 (GRCm39) Y1951* probably null Het
Myo15a C T 11: 60,393,195 (GRCm39) H2240Y probably damaging Het
Nckap5 A T 1: 126,309,909 (GRCm39) I74K probably damaging Het
Nfxl1 A T 5: 72,697,651 (GRCm39) probably null Het
Or11j4 T C 14: 50,631,005 (GRCm39) V264A possibly damaging Het
Or2ah1 A T 2: 85,653,794 (GRCm39) I160F probably benign Het
Or4c11c A G 2: 88,661,700 (GRCm39) I80V probably benign Het
Or8d2 C T 9: 38,759,893 (GRCm39) T161I probably benign Het
Piezo2 T C 18: 63,154,399 (GRCm39) Y2460C probably damaging Het
Pigx A G 16: 31,906,129 (GRCm39) L64P probably damaging Het
Prss1 C T 6: 41,440,615 (GRCm39) T230I probably damaging Het
Ptma A G 1: 86,455,569 (GRCm39) probably null Het
Rab39 T C 9: 53,617,331 (GRCm39) T29A probably benign Het
Rem2 C T 14: 54,715,144 (GRCm39) A107V possibly damaging Het
Senp1 A G 15: 97,946,152 (GRCm39) V531A probably damaging Het
Serhl A G 15: 82,985,843 (GRCm39) probably null Het
Sirpa T G 2: 129,472,075 (GRCm39) Y164D probably damaging Het
Slc12a3 T C 8: 95,069,741 (GRCm39) I550T possibly damaging Het
Slc22a14 T C 9: 119,049,835 (GRCm39) probably null Het
Slfn5 A G 11: 82,851,241 (GRCm39) N513D probably damaging Het
Sptan1 T C 2: 29,910,467 (GRCm39) S1831P possibly damaging Het
Swap70 T C 7: 109,855,027 (GRCm39) L109P probably benign Het
Tas2r119 G A 15: 32,178,319 (GRCm39) C295Y probably damaging Het
Tcaf3 T A 6: 42,570,172 (GRCm39) I527L probably damaging Het
Traj31 A G 14: 54,425,387 (GRCm39) probably benign Het
Unc5a T A 13: 55,152,748 (GRCm39) D887E probably benign Het
Zfp407 T A 18: 84,450,536 (GRCm39) H1600L probably damaging 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
R3623:Mdfic UTSW 6 15,770,319 (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
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'- GGAGGAGTAAAGCTGTTCAACC -3'
(R):5'- CCAATGTGCATTTGGCTATATGC -3'

Sequencing Primer
(F):5'- GCTGTTCAACCCTAAGATTCTGAGG -3'
(R):5'- GCATTCCTAATCTTCAAGGGACG -3'
Posted On 2018-12-03