Incidental Mutation 'IGL02998:Msantd1'
ID407196
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Msantd1
Ensembl Gene ENSMUSG00000051246
Gene NameMyb/SANT-like DNA-binding domain containing 1
SynonymsLOC231132, A930005I04Rik
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL02998
Quality Score
Status
Chromosome5
Chromosomal Location34908012-34923839 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 34921424 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Glycine at position 101 (D101G)
Ref Sequence ENSEMBL: ENSMUSP00000148522 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000050535] [ENSMUST00000202205] [ENSMUST00000212362]
Predicted Effect probably damaging
Transcript: ENSMUST00000050535
AA Change: D114G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000057362
Gene: ENSMUSG00000051246
AA Change: D114G

DomainStartEndE-ValueType
Pfam:Myb_DNA-bind_4 43 131 1.1e-14 PFAM
low complexity region 183 203 N/A INTRINSIC
coiled coil region 215 246 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000201636
Predicted Effect probably benign
Transcript: ENSMUST00000202205
SMART Domains Protein: ENSMUSP00000144008
Gene: ENSMUSG00000051246

DomainStartEndE-ValueType
Pfam:Myb_DNA-bind_4 43 129 9.4e-9 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000212362
AA Change: D101G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 23 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrb2 C T 4: 130,019,069 A1329V probably benign Het
Bhlha9 G A 11: 76,672,744 A66T probably damaging Het
Dock10 G A 1: 80,573,542 R681W probably damaging Het
Dst T C 1: 34,268,275 L1433P probably damaging Het
Ercc6 A G 14: 32,557,857 I610V probably benign Het
Fras1 T C 5: 96,702,181 F1859S possibly damaging Het
Gad1 A G 2: 70,589,819 Y349C probably damaging Het
Galnt1 T A 18: 24,264,412 I190N probably damaging Het
Gm28042 G A 2: 120,040,154 V768I possibly damaging Het
Gm8220 T C 14: 44,288,308 probably null Het
Higd1a A G 9: 121,849,624 probably benign Het
Itga4 T A 2: 79,277,821 Y206N possibly damaging Het
Itpk1 A G 12: 102,579,139 V235A probably damaging Het
Itpka A G 2: 119,750,761 Q425R possibly damaging Het
Kpna6 T A 4: 129,655,504 I162F probably benign Het
Ntrk3 T C 7: 78,577,657 I43V probably damaging Het
Pias3 G A 3: 96,702,179 E271K probably damaging Het
Pparg A G 6: 115,463,088 I178V probably benign Het
Rxfp3 A T 15: 11,036,968 M106K probably damaging Het
Scn3b G A 9: 40,288,417 V210M possibly damaging Het
Shisa3 A G 5: 67,608,505 D33G possibly damaging Het
Suz12 T A 11: 80,029,323 W570R probably damaging Het
Vmn2r107 A T 17: 20,357,755 K442M probably damaging Het
Other mutations in Msantd1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02514:Msantd1 APN 5 34921543 missense probably damaging 0.99
R0538:Msantd1 UTSW 5 34917725 missense probably damaging 1.00
R1658:Msantd1 UTSW 5 34921561 missense probably damaging 0.99
R1658:Msantd1 UTSW 5 34921562 missense probably benign 0.43
R3745:Msantd1 UTSW 5 34923467 missense possibly damaging 0.94
R5241:Msantd1 UTSW 5 34921469 missense probably damaging 1.00
R6009:Msantd1 UTSW 5 34917705 missense probably benign 0.45
R6406:Msantd1 UTSW 5 34923321 splice site probably null
R6725:Msantd1 UTSW 5 34921421 missense probably damaging 1.00
R7055:Msantd1 UTSW 5 34917661 missense probably benign
R7327:Msantd1 UTSW 5 34917695 missense probably damaging 1.00
Posted On2016-08-02