Incidental Mutation 'IGL02021:Msantd4'
ID 183977
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Msantd4
Ensembl Gene ENSMUSG00000041124
Gene Name Myb/SANT-like DNA-binding domain containing 4 with coiled-coils
Synonyms 8430410K20Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.211) question?
Stock # IGL02021
Quality Score
Status
Chromosome 9
Chromosomal Location 4376562-4386870 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 4385163 bp (GRCm39)
Zygosity Heterozygous
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]
AlphaFold Q91YU3
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: 3,457,890 (GRCm39) probably benign Het
Adam10 C T 9: 70,651,191 (GRCm39) T72I possibly damaging Het
Adam26b T A 8: 43,972,909 (GRCm39) M698L probably benign Het
Ankrd27 A T 7: 35,313,881 (GRCm39) H404L probably damaging Het
Atp1a1 T C 3: 101,501,524 (GRCm39) S60G probably benign Het
Bcat1 T C 6: 144,993,015 (GRCm39) probably benign Het
Cd177 G A 7: 24,444,631 (GRCm39) A650V probably benign Het
Cmya5 T C 13: 93,231,057 (GRCm39) N1344D probably benign Het
Ctsd G T 7: 141,939,213 (GRCm39) L71I probably damaging Het
Dctn2 T C 10: 127,110,926 (GRCm39) probably null Het
Ddr1 G A 17: 35,994,372 (GRCm39) A801V probably damaging Het
Dennd2b T C 7: 109,156,579 (GRCm39) Y57C probably damaging Het
Duoxa1 A G 2: 122,135,127 (GRCm39) F251S probably benign Het
Fcho1 A C 8: 72,173,919 (GRCm39) S2A probably benign Het
Gm4861 T C 3: 137,257,871 (GRCm39) probably null Het
Gm4922 C A 10: 18,660,225 (GRCm39) G166W probably damaging Het
Hic2 A G 16: 17,076,617 (GRCm39) E482G probably benign Het
Hoxa5 C T 6: 52,179,637 (GRCm39) R246K probably damaging Het
Ipo11 A T 13: 106,993,745 (GRCm39) F721I probably damaging Het
Lama1 A T 17: 68,128,621 (GRCm39) S2993C probably damaging Het
Lonp2 T A 8: 87,435,599 (GRCm39) S612T probably benign Het
Lpar5 T G 6: 125,058,955 (GRCm39) Y225* probably null Het
Map4k3 A G 17: 80,917,255 (GRCm39) Y574H probably damaging Het
Ncs1 A G 2: 31,174,177 (GRCm39) D109G probably damaging Het
Nnt T C 13: 119,472,783 (GRCm39) probably benign Het
Nr1h5 T C 3: 102,855,058 (GRCm39) probably benign Het
Or2ag20 A T 7: 106,464,696 (GRCm39) K170* probably null Het
Or4g7 A G 2: 111,309,825 (GRCm39) D232G probably benign Het
Plk4 A G 3: 40,765,143 (GRCm39) D595G probably damaging Het
Rbm17 C A 2: 11,600,249 (GRCm39) probably benign Het
Slc24a3 T A 2: 145,360,836 (GRCm39) I193N probably damaging Het
Stat5a G T 11: 100,774,715 (GRCm39) V759F probably damaging Het
Tgfbi T A 13: 56,779,166 (GRCm39) L463Q probably damaging Het
Tigar G T 6: 127,066,253 (GRCm39) A95E probably damaging Het
Tph1 A G 7: 46,306,421 (GRCm39) I180T possibly damaging Het
Usp22 T A 11: 61,045,325 (GRCm39) Y517F probably damaging Het
Vmn2r105 A C 17: 20,448,157 (GRCm39) I222M possibly damaging Het
Wapl A G 14: 34,444,293 (GRCm39) I582V probably benign Het
Zfp217 A G 2: 169,957,069 (GRCm39) V643A probably benign Het
Other mutations in Msantd4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02347:Msantd4 APN 9 4,384,734 (GRCm39) splice site probably benign
IGL02947:Msantd4 APN 9 4,384,787 (GRCm39) missense probably damaging 0.97
IGL02949:Msantd4 APN 9 4,385,196 (GRCm39) missense probably damaging 1.00
FR4548:Msantd4 UTSW 9 4,384,937 (GRCm39) missense possibly damaging 0.50
FR4976:Msantd4 UTSW 9 4,384,937 (GRCm39) missense possibly damaging 0.50
R0006:Msantd4 UTSW 9 4,384,099 (GRCm39) missense probably damaging 1.00
R0436:Msantd4 UTSW 9 4,385,180 (GRCm39) missense probably damaging 0.98
R1403:Msantd4 UTSW 9 4,384,023 (GRCm39) missense probably benign 0.19
R1403:Msantd4 UTSW 9 4,384,023 (GRCm39) missense probably benign 0.19
R1512:Msantd4 UTSW 9 4,384,138 (GRCm39) missense probably benign 0.02
R1639:Msantd4 UTSW 9 4,385,199 (GRCm39) missense probably damaging 1.00
R3819:Msantd4 UTSW 9 4,385,237 (GRCm39) missense probably damaging 1.00
R6021:Msantd4 UTSW 9 4,384,063 (GRCm39) missense probably benign 0.34
R6982:Msantd4 UTSW 9 4,384,061 (GRCm39) missense possibly damaging 0.79
R8166:Msantd4 UTSW 9 4,384,095 (GRCm39) missense possibly damaging 0.95
R8753:Msantd4 UTSW 9 4,385,013 (GRCm39) missense probably damaging 0.99
R9510:Msantd4 UTSW 9 4,385,007 (GRCm39) missense probably benign 0.00
Posted On 2014-05-07