Incidental Mutation 'R2293:Msantd2'
ID 245079
Institutional Source Beutler Lab
Gene Symbol Msantd2
Ensembl Gene ENSMUSG00000042138
Gene Name Myb/SANT-like DNA-binding domain containing 2
Synonyms BC024479, 2810450G17Rik, 9530092B10Rik
MMRRC Submission 040292-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.152) question?
Stock # R2293 (G1)
Quality Score 110
Status Not validated
Chromosome 9
Chromosomal Location 37400317-37435921 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 37401100 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 69 (T69A)
Ref Sequence ENSEMBL: ENSMUSP00000148126 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000048604] [ENSMUST00000209391] [ENSMUST00000211060] [ENSMUST00000214298]
AlphaFold Q6NZR2
Predicted Effect probably damaging
Transcript: ENSMUST00000048604
AA Change: T161A

PolyPhen 2 Score 0.964 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000043329
Gene: ENSMUSG00000042138
AA Change: T161A

DomainStartEndE-ValueType
low complexity region 46 98 N/A INTRINSIC
Pfam:Myb_DNA-bind_4 101 199 1.9e-24 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000209391
AA Change: T69A

PolyPhen 2 Score 0.964 (Sensitivity: 0.78; Specificity: 0.95)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000209769
Predicted Effect probably benign
Transcript: ENSMUST00000211060
Predicted Effect noncoding transcript
Transcript: ENSMUST00000211224
Predicted Effect noncoding transcript
Transcript: ENSMUST00000211792
Predicted Effect possibly damaging
Transcript: ENSMUST00000214298
AA Change: T69A

PolyPhen 2 Score 0.717 (Sensitivity: 0.86; Specificity: 0.92)
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.4%
  • 20x: 95.2%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 22 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ano9 T C 7: 140,682,428 (GRCm39) N640S probably benign Het
Aox4 T A 1: 58,261,096 (GRCm39) I143N probably damaging Het
Arhgef11 C T 3: 87,635,297 (GRCm39) R869C probably damaging Het
Bcl6 T C 16: 23,796,359 (GRCm39) N23D probably damaging Het
Brca2 T A 5: 150,483,999 (GRCm39) F2939L possibly damaging Het
Bsn C T 9: 107,990,266 (GRCm39) A1829T possibly damaging Het
Cyp2j6 T A 4: 96,417,670 (GRCm39) T318S possibly damaging Het
Dlg5 A C 14: 24,208,180 (GRCm39) S1009A probably benign Het
Dlx6 A G 6: 6,867,246 (GRCm39) Y283C probably damaging Het
Dnah10 T C 5: 124,896,285 (GRCm39) Y3550H probably damaging Het
Dock7 T C 4: 98,854,606 (GRCm39) S1553G probably damaging Het
Ice1 C A 13: 70,763,076 (GRCm39) D193Y probably damaging Het
Mdga2 A T 12: 66,615,759 (GRCm39) L547* probably null Het
Mgat4a C A 1: 37,491,673 (GRCm39) R215L probably damaging Het
Muc5ac A G 7: 141,360,936 (GRCm39) T1416A probably damaging Het
Nup214 T C 2: 31,916,887 (GRCm39) S1181P probably benign Het
Pip5k1c A G 10: 81,149,918 (GRCm39) E42G possibly damaging Het
Slc12a5 A G 2: 164,834,250 (GRCm39) E757G probably benign Het
Slc16a14 A T 1: 84,890,564 (GRCm39) M247K probably benign Het
Slc35b2 T A 17: 45,878,067 (GRCm39) V398E probably damaging Het
Slc44a5 C A 3: 153,945,934 (GRCm39) L156I probably benign Het
Trmt11 G C 10: 30,423,744 (GRCm39) P387R probably damaging Het
Other mutations in Msantd2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00753:Msantd2 APN 9 37,434,845 (GRCm39) unclassified probably benign
IGL01602:Msantd2 APN 9 37,428,736 (GRCm39) missense probably benign 0.17
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
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
Predicted Primers PCR Primer
(F):5'- AAGATGGAGGTGCTTTCCCC -3'
(R):5'- AAACTCAGGAAACCTACGGG -3'

Sequencing Primer
(F):5'- GAACCCATCGCTGTCCG -3'
(R):5'- GCCATCTGGAAAGAAGCGCC -3'
Posted On 2014-10-30