Incidental Mutation 'IGL03104:Mdfic'
ID 418873
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Mdfic
Ensembl Gene ENSMUSG00000041390
Gene Name MyoD family inhibitor domain containing
Synonyms clone 1.5, Kdt1
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.294) question?
Stock # IGL03104
Quality Score
Status
Chromosome 6
Chromosomal Location 15720661-15802169 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to A at 15770320 bp (GRCm38)
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
Validation Efficiency
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
Aox2 C A 1: 58,282,759 T70K probably benign Het
Armt1 T A 10: 4,439,615 Y91N possibly damaging Het
Atp1a2 A G 1: 172,293,367 L46S probably damaging Het
Baz1a A G 12: 54,894,958 S1488P probably damaging Het
Coro7 T A 16: 4,629,126 E793V probably damaging Het
Ctnnbl1 G T 2: 157,890,965 R555L probably damaging Het
Dclk2 A G 3: 86,836,359 C268R probably damaging Het
Dock7 A T 4: 98,959,023 M1684K possibly damaging Het
Dock8 T A 19: 25,201,020 C2092* probably null Het
Dtx1 T A 5: 120,694,965 Q136L possibly damaging Het
Egln3 C T 12: 54,203,195 probably benign Het
Eml5 A T 12: 98,861,245 Y575* probably null Het
Entpd5 A T 12: 84,384,248 V310E probably damaging Het
Fkbp5 A G 17: 28,415,972 F188L probably damaging Het
Frrs1 T C 3: 116,881,782 S120P probably benign Het
Gadl1 T C 9: 116,074,040 I479T possibly damaging Het
Gfra2 A T 14: 70,968,285 M106L probably benign Het
Gm17455 T A 10: 60,403,281 C108* probably null Het
Gm9733 G T 3: 15,332,223 probably benign Het
Grhpr A G 4: 44,983,867 probably benign Het
Hsp90ab1 G A 17: 45,571,523 R82C probably damaging Het
Igsf10 T C 3: 59,319,484 Y2256C probably damaging Het
Ivd A T 2: 118,872,903 I160F probably benign Het
Krtap5-5 A G 7: 142,229,713 C67R unknown Het
Lhx4 A T 1: 155,705,221 V186E probably damaging Het
Lrrk2 T C 15: 91,747,755 I1294T possibly damaging Het
Map3k5 C T 10: 20,132,055 S1202L probably benign Het
Mov10 G A 3: 104,797,307 R763W probably damaging Het
Mto1 T C 9: 78,449,520 S106P probably damaging Het
Naca C T 10: 128,040,364 probably benign Het
Olfr1408 A G 1: 173,130,959 V86A probably benign Het
Olfr282 A G 15: 98,438,246 Y259C possibly damaging Het
Pan2 T C 10: 128,315,663 probably benign Het
Pold1 T C 7: 44,540,580 Y394C probably damaging Het
Sipa1l1 T A 12: 82,342,130 S377T probably benign Het
Slc36a3 A G 11: 55,125,120 S403P probably damaging Het
Slc4a4 A G 5: 89,149,372 T480A probably damaging Het
Slu7 G A 11: 43,442,056 V315I probably benign Het
St6galnac3 T C 3: 153,205,478 E282G probably damaging Het
Tlr12 A G 4: 128,615,892 V855A probably benign Het
Vmn1r53 T A 6: 90,223,962 K127* probably null Het
Vmn1r72 T G 7: 11,669,885 H212P probably damaging Het
Vmn2r86 T A 10: 130,446,632 Q705L probably damaging Het
Vps33b C T 7: 80,276,083 R93C probably damaging Het
Wdr91 T A 6: 34,905,556 E219D probably benign Het
Zan G A 5: 137,463,500 T1139I unknown Het
Zc3hav1 T A 6: 38,340,343 K107N probably damaging Het
Zcchc6 T C 13: 59,814,903 D350G probably benign Het
Zmym2 A G 14: 56,950,327 E1150G possibly damaging Het
Other mutations in Mdfic
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00579:Mdfic APN 6 15741074 missense possibly damaging 0.95
IGL02184:Mdfic APN 6 15770367 missense possibly damaging 0.76
IGL03177:Mdfic APN 6 15770451 missense probably damaging 1.00
R0521:Mdfic UTSW 6 15799756 missense probably benign 0.07
R1549:Mdfic UTSW 6 15799845 missense probably damaging 1.00
R1613:Mdfic UTSW 6 15799590 splice site probably null
R2496:Mdfic UTSW 6 15741042 missense possibly damaging 0.92
R3087:Mdfic UTSW 6 15799669 missense probably damaging 1.00
R3623:Mdfic UTSW 6 15770320 missense probably damaging 1.00
R3887:Mdfic UTSW 6 15799711 missense probably damaging 1.00
R4736:Mdfic UTSW 6 15741020 missense possibly damaging 0.79
R5704:Mdfic UTSW 6 15770292 missense probably damaging 1.00
R6187:Mdfic UTSW 6 15721197 utr 5 prime probably benign
R6501:Mdfic UTSW 6 15770517 missense possibly damaging 0.48
R6517:Mdfic UTSW 6 15770325 missense probably damaging 1.00
R6521:Mdfic UTSW 6 15729028 intron probably benign
R7761:Mdfic UTSW 6 15728056 missense unknown
R7959:Mdfic UTSW 6 15741071 missense possibly damaging 0.84
R8196:Mdfic UTSW 6 15740990 missense probably benign 0.45
R8345:Mdfic UTSW 6 15799654 missense probably damaging 1.00
R8690:Mdfic UTSW 6 15799654 missense probably damaging 1.00
R9491:Mdfic UTSW 6 15799853 nonsense probably null
R9497:Mdfic UTSW 6 15720853 missense unknown
R9497:Mdfic UTSW 6 15770509 missense probably benign 0.27
R9718:Mdfic UTSW 6 15770515 missense probably damaging 1.00
R9755:Mdfic UTSW 6 15799759 missense probably damaging 1.00
Posted On 2016-08-02