Incidental Mutation 'IGL01602:Msantd2'
ID 93514
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Msantd2
Ensembl Gene ENSMUSG00000042138
Gene Name Myb/SANT-like DNA-binding domain containing 2
Synonyms BC024479, 2810450G17Rik, 9530092B10Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.152) question?
Stock # IGL01602
Quality Score
Status
Chromosome 9
Chromosomal Location 37400317-37435921 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 37428736 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 101 (E101G)
Ref Sequence ENSEMBL: ENSMUSP00000148883 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000048604] [ENSMUST00000209391] [ENSMUST00000211060] [ENSMUST00000214298]
AlphaFold Q6NZR2
Predicted Effect probably benign
Transcript: ENSMUST00000048604
AA Change: E245G

PolyPhen 2 Score 0.121 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000043329
Gene: ENSMUSG00000042138
AA Change: E245G

DomainStartEndE-ValueType
low complexity region 46 98 N/A INTRINSIC
Pfam:Myb_DNA-bind_4 101 199 1.9e-24 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000209391
Predicted Effect noncoding transcript
Transcript: ENSMUST00000209769
Predicted Effect probably benign
Transcript: ENSMUST00000211060
AA Change: E44G

PolyPhen 2 Score 0.123 (Sensitivity: 0.93; Specificity: 0.86)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000211792
Predicted Effect noncoding transcript
Transcript: ENSMUST00000213411
Predicted Effect probably benign
Transcript: ENSMUST00000214298
AA Change: E101G

PolyPhen 2 Score 0.165 (Sensitivity: 0.92; Specificity: 0.87)
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 29 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts17 A T 7: 66,538,159 (GRCm39) M242L probably benign Het
Brip1 T A 11: 85,952,830 (GRCm39) T984S possibly damaging Het
Cdh17 T C 4: 11,795,670 (GRCm39) Y417H probably damaging Het
Chd7 T A 4: 8,833,834 (GRCm39) I1196N probably damaging Het
Cyp3a57 T C 5: 145,323,854 (GRCm39) F447S probably damaging Het
Dnah12 C T 14: 26,431,430 (GRCm39) probably benign Het
Dock8 C T 19: 25,067,252 (GRCm39) probably benign Het
Eif1ad5 A T 12: 87,940,530 (GRCm39) noncoding transcript Het
Fam163b A G 2: 27,002,688 (GRCm39) F103S probably damaging Het
G0s2 A G 1: 192,954,964 (GRCm39) L40P probably damaging Het
Gucy1b1 C T 3: 81,942,660 (GRCm39) R494Q probably benign Het
Hsd17b1 T C 11: 100,969,755 (GRCm39) V89A probably damaging Het
Iqcg T C 16: 32,837,348 (GRCm39) probably benign Het
Lmo7 T C 14: 102,148,192 (GRCm39) probably benign Het
Mmp17 A G 5: 129,679,008 (GRCm39) D331G probably benign Het
Mnx1 T C 5: 29,682,591 (GRCm39) D228G unknown Het
Msh2 T C 17: 88,003,917 (GRCm39) probably benign Het
Pabpc1 A G 15: 36,599,550 (GRCm39) Y382H probably benign Het
Prl7b1 A G 13: 27,786,027 (GRCm39) S214P possibly damaging Het
Rbpj-ps3 T C 6: 46,507,025 (GRCm39) probably benign Het
Sgsm1 A T 5: 113,433,531 (GRCm39) M162K possibly damaging Het
Skint2 A G 4: 112,483,191 (GRCm39) T199A probably benign Het
Slc24a1 T A 9: 64,833,463 (GRCm39) D1044V probably damaging Het
Stim1 A G 7: 102,035,322 (GRCm39) D100G possibly damaging Het
Taar5 C T 10: 23,846,962 (GRCm39) T120I probably benign Het
Trhde A G 10: 114,623,848 (GRCm39) V352A probably benign Het
Ubap2 T A 4: 41,227,237 (GRCm39) D160V probably damaging Het
Vmn2r18 A G 5: 151,510,106 (GRCm39) V89A possibly damaging Het
Wbp1l A G 19: 46,642,839 (GRCm39) D264G possibly damaging Het
Other mutations in Msantd2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00753:Msantd2 APN 9 37,434,845 (GRCm39) unclassified probably benign
IGL01604:Msantd2 APN 9 37,434,144 (GRCm39) missense probably benign 0.29
IGL02009:Msantd2 APN 9 37,434,686 (GRCm39) missense possibly damaging 0.84
IGL02377:Msantd2 APN 9 37,434,602 (GRCm39) missense possibly damaging 0.92
IGL02406:Msantd2 APN 9 37,434,755 (GRCm39) missense probably damaging 1.00
IGL02869:Msantd2 APN 9 37,434,796 (GRCm39) missense probably damaging 1.00
R0281:Msantd2 UTSW 9 37,434,515 (GRCm39) missense possibly damaging 0.56
R0335:Msantd2 UTSW 9 37,434,056 (GRCm39) missense possibly damaging 0.91
R1135:Msantd2 UTSW 9 37,434,008 (GRCm39) missense probably damaging 0.96
R2120:Msantd2 UTSW 9 37,434,227 (GRCm39) missense probably damaging 1.00
R2124:Msantd2 UTSW 9 37,434,227 (GRCm39) missense probably damaging 1.00
R2293:Msantd2 UTSW 9 37,401,100 (GRCm39) missense probably damaging 0.96
R2982:Msantd2 UTSW 9 37,434,639 (GRCm39) missense probably damaging 0.99
R4680:Msantd2 UTSW 9 37,434,387 (GRCm39) missense probably damaging 1.00
R4974:Msantd2 UTSW 9 37,400,675 (GRCm39) missense possibly damaging 0.66
R5153:Msantd2 UTSW 9 37,434,509 (GRCm39) nonsense probably null
R5326:Msantd2 UTSW 9 37,428,555 (GRCm39) missense probably damaging 1.00
R5542:Msantd2 UTSW 9 37,428,555 (GRCm39) missense probably damaging 1.00
R6047:Msantd2 UTSW 9 37,434,738 (GRCm39) missense probably damaging 1.00
R6958:Msantd2 UTSW 9 37,434,753 (GRCm39) missense probably damaging 1.00
R7236:Msantd2 UTSW 9 37,400,965 (GRCm39) missense probably damaging 1.00
R7417:Msantd2 UTSW 9 37,434,590 (GRCm39) missense probably damaging 1.00
R8199:Msantd2 UTSW 9 37,400,789 (GRCm39) missense probably benign 0.02
R8221:Msantd2 UTSW 9 37,400,684 (GRCm39) missense probably damaging 1.00
R8512:Msantd2 UTSW 9 37,434,231 (GRCm39) missense possibly damaging 0.84
R8780:Msantd2 UTSW 9 37,434,798 (GRCm39) missense probably damaging 1.00
Posted On 2013-12-09