Incidental Mutation 'IGL02021:Msantd4'
ID183977
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Msantd4
Ensembl Gene ENSMUSG00000041124
Gene NameMyb/SANT-like DNA-binding domain containing 4 with coiled-coils
Synonyms
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.317) question?
Stock #IGL02021
Quality Score
Status
Chromosome9
Chromosomal Location4376562-4386870 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 4385163 bp
ZygosityHeterozygous
Amino Acid Change Glutamic Acid to Glycine at position 296 (E296G)
Ref Sequence ENSEMBL: ENSMUSP00000148805 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000047173] [ENSMUST00000212075]
Predicted Effect probably damaging
Transcript: ENSMUST00000047173
AA Change: E296G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000038267
Gene: ENSMUSG00000041124
AA Change: E296G

DomainStartEndE-ValueType
Pfam:Myb_DNA-bind_5 8 86 7.6e-26 PFAM
low complexity region 154 162 N/A INTRINSIC
coiled coil region 202 344 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000212075
AA Change: E296G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110002L01Rik G A 12: 3,407,890 probably benign Het
Adam10 C T 9: 70,743,909 T72I possibly damaging Het
Adam26b T A 8: 43,519,872 M698L probably benign Het
Ankrd27 A T 7: 35,614,456 H404L probably damaging Het
Atp1a1 T C 3: 101,594,208 S60G probably benign Het
Bcat1 T C 6: 145,047,289 probably benign Het
Cd177 G A 7: 24,745,206 A650V probably benign Het
Cmya5 T C 13: 93,094,549 N1344D probably benign Het
Ctsd G T 7: 142,385,476 L71I probably damaging Het
Dctn2 T C 10: 127,275,057 probably null Het
Ddr1 G A 17: 35,683,480 A801V probably damaging Het
Duoxa1 A G 2: 122,304,646 F251S probably benign Het
Fcho1 A C 8: 71,721,275 S2A probably benign Het
Gm4861 T C 3: 137,552,110 probably null Het
Gm4922 C A 10: 18,784,477 G166W probably damaging Het
Hic2 A G 16: 17,258,753 E482G probably benign Het
Hoxa5 C T 6: 52,202,657 R246K probably damaging Het
Ipo11 A T 13: 106,857,237 F721I probably damaging Het
Lama1 A T 17: 67,821,626 S2993C probably damaging Het
Lonp2 T A 8: 86,708,971 S612T probably benign Het
Lpar5 T G 6: 125,081,992 Y225* probably null Het
Map4k3 A G 17: 80,609,826 Y574H probably damaging Het
Ncs1 A G 2: 31,284,165 D109G probably damaging Het
Nnt T C 13: 119,336,247 probably benign Het
Nr1h5 T C 3: 102,947,742 probably benign Het
Olfr1288 A G 2: 111,479,480 D232G probably benign Het
Olfr704 A T 7: 106,865,489 K170* probably null Het
Plk4 A G 3: 40,810,708 D595G probably damaging Het
Rbm17 C A 2: 11,595,438 probably benign Het
Slc24a3 T A 2: 145,518,916 I193N probably damaging Het
St5 T C 7: 109,557,372 Y57C probably damaging Het
Stat5a G T 11: 100,883,889 V759F probably damaging Het
Tgfbi T A 13: 56,631,353 L463Q probably damaging Het
Tigar G T 6: 127,089,290 A95E probably damaging Het
Tph1 A G 7: 46,656,997 I180T possibly damaging Het
Usp22 T A 11: 61,154,499 Y517F probably damaging Het
Vmn2r105 A C 17: 20,227,895 I222M possibly damaging Het
Wapl A G 14: 34,722,336 I582V probably benign Het
Zfp217 A G 2: 170,115,149 V643A probably benign Het
Other mutations in Msantd4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02347:Msantd4 APN 9 4384734 splice site probably benign
IGL02947:Msantd4 APN 9 4384787 missense probably damaging 0.97
IGL02949:Msantd4 APN 9 4385196 missense probably damaging 1.00
FR4548:Msantd4 UTSW 9 4384937 missense possibly damaging 0.50
FR4976:Msantd4 UTSW 9 4384937 missense possibly damaging 0.50
R0006:Msantd4 UTSW 9 4384099 missense probably damaging 1.00
R0436:Msantd4 UTSW 9 4385180 missense probably damaging 0.98
R1403:Msantd4 UTSW 9 4384023 missense probably benign 0.19
R1403:Msantd4 UTSW 9 4384023 missense probably benign 0.19
R1512:Msantd4 UTSW 9 4384138 missense probably benign 0.02
R1639:Msantd4 UTSW 9 4385199 missense probably damaging 1.00
R3819:Msantd4 UTSW 9 4385237 missense probably damaging 1.00
R6021:Msantd4 UTSW 9 4384063 missense probably benign 0.34
R6982:Msantd4 UTSW 9 4384061 missense possibly damaging 0.79
Posted On2014-05-07