Incidental Mutation 'R5241:Msantd1'
ID400810
Institutional Source Beutler Lab
Gene Symbol Msantd1
Ensembl Gene ENSMUSG00000051246
Gene NameMyb/SANT-like DNA-binding domain containing 1
SynonymsLOC231132, A930005I04Rik
MMRRC Submission 042812-MU
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #R5241 (G1)
Quality Score225
Status Not validated
Chromosome5
Chromosomal Location34908012-34923839 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 34921469 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Glycine at position 116 (D116G)
Ref Sequence ENSEMBL: ENSMUSP00000148522 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000050535] [ENSMUST00000202205] [ENSMUST00000212362]
Predicted Effect probably damaging
Transcript: ENSMUST00000050535
AA Change: D129G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000057362
Gene: ENSMUSG00000051246
AA Change: D129G

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: D116G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.3%
  • 10x: 96.2%
  • 20x: 91.8%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A930033H14Rik A G 10: 69,212,751 probably null Het
Adgrb3 T C 1: 25,111,790 T881A possibly damaging Het
Adgrv1 A T 13: 81,488,929 C3464* probably null Het
Afp A G 5: 90,501,614 M347V probably benign Het
Apc2 A G 10: 80,312,234 T1041A probably benign Het
Atl1 T C 12: 69,959,113 S398P possibly damaging Het
Atp8b4 G A 2: 126,383,726 P528L probably benign Het
Bahcc1 C A 11: 120,271,403 P176T probably damaging Het
Bsnd A G 4: 106,487,985 V88A probably benign Het
Dnah7c T A 1: 46,530,500 F687Y probably benign Het
Dok6 T C 18: 89,598,789 I23M possibly damaging Het
Fcgbp A T 7: 28,085,199 D228V probably damaging Het
Gatad2a G A 8: 69,918,017 Q107* probably null Het
Glis3 G T 19: 28,350,023 T663K probably benign Het
Gm10784 T A 13: 49,945,093 noncoding transcript Het
Gsdmc2 C T 15: 63,824,894 R476H probably benign Het
Gsdmc3 A G 15: 63,864,146 S202P possibly damaging Het
Map3k8 T C 18: 4,340,750 E188G probably damaging Het
Mccc1 T A 3: 35,974,196 Q487L probably benign Het
Myh1 T A 11: 67,204,449 S212T probably benign Het
Nr1h4 A G 10: 89,483,489 Y158H probably damaging Het
Olfr1180 T C 2: 88,412,098 T187A possibly damaging Het
Olfr421-ps1 T A 1: 174,152,101 I195N probably benign Het
Olfr585 T C 7: 103,098,317 V192A probably benign Het
Pcnt A T 10: 76,433,617 H272Q probably benign Het
Pdia5 T C 16: 35,429,775 N242S probably benign Het
Pkd1l2 A T 8: 117,035,118 D1441E probably damaging Het
Runx2 G T 17: 44,639,777 Y203* probably null Het
Sdr9c7 T G 10: 127,909,790 I257S probably benign Het
Slitrk1 A G 14: 108,913,012 M89T probably benign Het
St14 G T 9: 31,100,418 C397* probably null Het
Tas2r123 T C 6: 132,847,218 I26T probably benign Het
Tmem144 A T 3: 79,814,124 M329K probably benign Het
Tmem252 T C 19: 24,674,127 M20T probably benign Het
Umodl1 T C 17: 30,984,092 V473A probably benign Het
Wdr70 A G 15: 8,079,216 C149R probably benign Het
Xirp2 C T 2: 67,482,360 R58* probably null Het
Zer1 A C 2: 30,104,970 L471R probably damaging Het
Zfp101 C T 17: 33,382,236 C182Y probably benign Het
Other mutations in Msantd1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02514:Msantd1 APN 5 34921543 missense probably damaging 0.99
IGL02998:Msantd1 APN 5 34921424 missense probably damaging 1.00
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
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
Predicted Primers PCR Primer
(F):5'- TGTGTTAGCATGGCTCCCTC -3'
(R):5'- CACTACCTGAACTTAAGGGACAG -3'

Sequencing Primer
(F):5'- TCTAGGGACCTAGACCTCTTGAG -3'
(R):5'- CTACCTGAACTTAAGGGACAGTAAGC -3'
Posted On2016-07-06