Incidental Mutation 'IGL03177:Mdfic'
ID412048
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Mdfic
Ensembl Gene ENSMUSG00000041390
Gene NameMyoD family inhibitor domain containing
Synonymsclone 1.5, Kdt1
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.184) question?
Stock #IGL03177
Quality Score
Status
Chromosome6
Chromosomal Location15720661-15802169 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 15770451 bp
ZygosityHeterozygous
Amino Acid Change Valine to Alanine at position 152 (V152A)
Ref Sequence ENSEMBL: ENSMUSP00000140208 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000101663] [ENSMUST00000120512] [ENSMUST00000125326] [ENSMUST00000128849] [ENSMUST00000140516] [ENSMUST00000189359] [ENSMUST00000190255]
Predicted Effect probably damaging
Transcript: ENSMUST00000101663
AA Change: V152A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000099186
Gene: ENSMUSG00000041390
AA Change: V152A

DomainStartEndE-ValueType
Pfam:MDFI 74 247 7.3e-74 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000120512
AA Change: V152A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000113050
Gene: ENSMUSG00000041390
AA Change: V152A

DomainStartEndE-ValueType
Pfam:MDFI 74 247 1.6e-76 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000125326
AA Change: V152A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000139704
Gene: ENSMUSG00000041390
AA Change: V152A

DomainStartEndE-ValueType
Pfam:MDFI 74 175 6e-16 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000128849
Predicted Effect probably benign
Transcript: ENSMUST00000140516
Predicted Effect probably damaging
Transcript: ENSMUST00000189359
AA Change: V152A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000140208
Gene: ENSMUSG00000041390
AA Change: V152A

DomainStartEndE-ValueType
Pfam:MDFI 74 247 1.6e-76 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000190255
AA Change: V234A

PolyPhen 2 Score 0.491 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000140641
Gene: ENSMUSG00000041390
AA Change: V234A

DomainStartEndE-ValueType
low complexity region 7 19 N/A INTRINSIC
Pfam:MDFI 156 329 8.8e-73 PFAM
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: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrg2 T C X: 160,438,263 I23T possibly damaging Het
Ank2 C A 3: 126,955,870 E503D probably damaging Het
Anxa7 T C 14: 20,456,586 I451V probably benign Het
Capn10 T C 1: 92,934,982 F37L probably benign Het
Cyp4f13 A G 17: 32,946,914 I30T possibly damaging Het
Ddx27 A G 2: 167,027,920 N392D possibly damaging Het
Dhx30 T C 9: 110,088,010 H479R possibly damaging Het
Dnah5 A G 15: 28,295,399 Y1426C probably damaging Het
Dnajc2 A G 5: 21,775,081 probably benign Het
Fbxw8 C A 5: 118,128,980 probably benign Het
Grik5 G A 7: 25,015,454 T705I probably damaging Het
H2-M3 G T 17: 37,270,316 V19F possibly damaging Het
Hapln2 C A 3: 88,022,771 C266F probably damaging Het
Hist1h2ab T A 13: 23,751,526 probably benign Het
Hspbp1 A T 7: 4,664,701 probably null Het
Jak3 T A 8: 71,682,370 V549D probably damaging Het
Mark1 A G 1: 184,944,907 S49P probably damaging Het
Mgat4a C A 1: 37,444,887 V501L probably damaging Het
Mlxip C A 5: 123,445,981 P536T possibly damaging Het
Mrpl2 A T 17: 46,649,037 T213S probably damaging Het
Nos1ap C A 1: 170,390,730 probably null Het
Olfr1247 C T 2: 89,609,482 V207I probably benign Het
Olfr786 T C 10: 129,436,815 M1T probably null Het
Olfr914 T A 9: 38,606,571 Y35* probably null Het
P2rx2 T C 5: 110,341,613 I251V probably damaging Het
Parva T A 7: 112,572,933 probably benign Het
Phf10 G A 17: 14,946,231 T459I probably damaging Het
Prg4 T A 1: 150,455,603 probably benign Het
Pum3 A T 19: 27,390,212 I639N probably benign Het
Rlf T A 4: 121,148,079 K1235* probably null Het
Ryr3 T A 2: 113,028,671 I46F probably benign Het
Sall3 A G 18: 80,972,968 S582P probably benign Het
Scn3b A C 9: 40,270,042 Y17S probably benign Het
Senp8 A G 9: 59,737,328 C169R probably damaging Het
Sgsm1 C T 5: 113,250,993 A1025T probably damaging Het
Six1 T C 12: 73,043,740 E217G possibly damaging Het
Slc38a8 T C 8: 119,485,512 D364G probably damaging Het
Stk10 A T 11: 32,614,592 E801V probably damaging Het
Ston2 A T 12: 91,647,657 I659N probably damaging Het
Stxbp4 T C 11: 90,571,753 Q331R probably benign Het
Synpo2 A T 3: 123,121,215 V54E probably damaging Het
Tax1bp1 A G 6: 52,736,947 D237G possibly damaging Het
Tmigd1 T C 11: 76,906,948 Y39H probably benign Het
Vmn1r15 A G 6: 57,258,473 T109A probably benign Het
Vmn1r209 T C 13: 22,805,854 Y222C possibly damaging Het
Zfp809 A G 9: 22,235,051 D12G probably 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
IGL03104:Mdfic APN 6 15770320 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 intron 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
R8196:Mdfic UTSW 6 15740990 missense probably benign 0.45
Posted On2016-08-02