Incidental Mutation 'IGL02514:Msantd1'
ID 296665
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Msantd1
Ensembl Gene ENSMUSG00000051246
Gene Name Myb/SANT-like DNA-binding domain containing 1
Synonyms A930005I04Rik, LOC231132
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL02514
Quality Score
Status
Chromosome 5
Chromosomal Location 35071581-35084333 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 35078887 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Threonine at position 141 (S141T)
Ref Sequence ENSEMBL: ENSMUSP00000148522 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000050535] [ENSMUST00000202205] [ENSMUST00000212362]
AlphaFold Q8BIL2
Predicted Effect probably damaging
Transcript: ENSMUST00000050535
AA Change: S154T

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000057362
Gene: ENSMUSG00000051246
AA Change: S154T

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: S141T

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310009B15Rik A T 1: 138,779,909 (GRCm39) C114* probably null Het
4933421I07Rik A G 7: 42,096,981 (GRCm39) M110T probably damaging Het
Amer1 A G X: 94,470,117 (GRCm39) V667A possibly damaging Het
Casr C T 16: 36,320,687 (GRCm39) G487E probably damaging Het
Catsperd G A 17: 56,968,271 (GRCm39) G552D probably damaging Het
Ceacam3 A G 7: 16,896,906 (GRCm39) D624G possibly damaging Het
Celsr2 A G 3: 108,304,826 (GRCm39) V2208A probably benign Het
Cibar1 T G 4: 12,164,080 (GRCm39) probably benign Het
Clca4a G A 3: 144,660,832 (GRCm39) S664F probably damaging Het
Ddx23 A T 15: 98,556,199 (GRCm39) S40T unknown Het
Dhodh G A 8: 110,332,896 (GRCm39) R58* probably null Het
Dhx36 A G 3: 62,408,319 (GRCm39) L173S possibly damaging Het
Dnaaf5 C T 5: 139,159,872 (GRCm39) probably benign Het
Dnah3 T C 7: 119,565,470 (GRCm39) D2546G probably damaging Het
Eef2 T G 10: 81,015,427 (GRCm39) I316S probably benign Het
Efcab6 T C 15: 83,917,143 (GRCm39) D139G possibly damaging Het
Efcab6 A T 15: 83,755,512 (GRCm39) probably benign Het
Eif4g3 T A 4: 137,853,505 (GRCm39) I357N possibly damaging Het
Elovl2 G A 13: 41,348,247 (GRCm39) T44M probably benign Het
Fbln1 T A 15: 85,128,463 (GRCm39) C553* probably null Het
Fip1l1 T C 5: 74,731,813 (GRCm39) V310A probably damaging Het
Gast A G 11: 100,227,718 (GRCm39) D100G probably benign Het
Gk G A X: 84,756,970 (GRCm39) probably benign Het
Gm1330 G A 2: 148,841,305 (GRCm39) probably benign Het
Hspg2 C A 4: 137,296,887 (GRCm39) T4355K probably benign Het
Ipo7 T C 7: 109,648,035 (GRCm39) V639A possibly damaging Het
Lrrc7 T C 3: 157,865,929 (GRCm39) M1271V probably damaging Het
Myo9b T C 8: 71,743,650 (GRCm39) I237T probably damaging Het
Or10ag59 G A 2: 87,405,537 (GRCm39) M36I probably benign Het
Or13a21 A T 7: 139,999,507 (GRCm39) Y60N probably damaging Het
Or2w3 T C 11: 58,556,469 (GRCm39) F28S probably damaging Het
Or4k40 A C 2: 111,251,117 (GRCm39) Y60D probably damaging Het
Pan2 A T 10: 128,146,610 (GRCm39) M416L possibly damaging Het
Pank4 T C 4: 155,054,922 (GRCm39) F209L probably damaging Het
Pcdhb13 A T 18: 37,576,044 (GRCm39) I141L possibly damaging Het
Pik3r2 A G 8: 71,223,236 (GRCm39) Y422H probably benign Het
Pramel14 T C 4: 143,719,772 (GRCm39) K198E probably benign Het
Prdm4 A T 10: 85,743,781 (GRCm39) I158N probably damaging Het
Prl T G 13: 27,243,377 (GRCm39) L14R probably damaging Het
Rabl6 C A 2: 25,498,188 (GRCm39) A23S probably damaging Het
Rbm15b T A 9: 106,762,176 (GRCm39) H664L probably damaging Het
Rhobtb1 T A 10: 69,125,471 (GRCm39) H618Q probably benign Het
Slc15a1 T C 14: 121,724,452 (GRCm39) K140R probably damaging Het
Slc6a17 A G 3: 107,402,993 (GRCm39) S145P possibly damaging Het
Snx31 T C 15: 36,525,728 (GRCm39) T324A probably damaging Het
Spatc1l T C 10: 76,405,490 (GRCm39) probably benign Het
Taar7b A G 10: 23,876,882 (GRCm39) N349S probably benign Het
Tbx19 T C 1: 164,981,273 (GRCm39) I74V probably benign Het
Tmtc2 G A 10: 105,025,960 (GRCm39) T836I possibly damaging Het
Vmn2r72 C A 7: 85,387,907 (GRCm39) M552I possibly damaging Het
Vsig10l A G 7: 43,113,338 (GRCm39) T199A probably benign Het
Washc4 A T 10: 83,405,947 (GRCm39) E481V probably damaging Het
Zc3h15 T A 2: 83,483,725 (GRCm39) N33K probably damaging Het
Other mutations in Msantd1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02998:Msantd1 APN 5 35,078,768 (GRCm39) missense probably damaging 1.00
G1patch:Msantd1 UTSW 5 35,078,765 (GRCm39) missense probably damaging 1.00
R0538:Msantd1 UTSW 5 35,075,069 (GRCm39) missense probably damaging 1.00
R1658:Msantd1 UTSW 5 35,078,906 (GRCm39) missense probably benign 0.43
R1658:Msantd1 UTSW 5 35,078,905 (GRCm39) missense probably damaging 0.99
R3745:Msantd1 UTSW 5 35,080,811 (GRCm39) missense possibly damaging 0.94
R5241:Msantd1 UTSW 5 35,078,813 (GRCm39) missense probably damaging 1.00
R6009:Msantd1 UTSW 5 35,075,049 (GRCm39) missense probably benign 0.45
R6406:Msantd1 UTSW 5 35,080,665 (GRCm39) splice site probably null
R6725:Msantd1 UTSW 5 35,078,765 (GRCm39) missense probably damaging 1.00
R7055:Msantd1 UTSW 5 35,075,005 (GRCm39) missense probably benign
R7327:Msantd1 UTSW 5 35,075,039 (GRCm39) missense probably damaging 1.00
R9265:Msantd1 UTSW 5 35,080,861 (GRCm39) nonsense probably null
R9279:Msantd1 UTSW 5 35,080,885 (GRCm39) missense probably benign
R9623:Msantd1 UTSW 5 35,075,076 (GRCm39) nonsense probably null
Posted On 2015-04-16