Incidental Mutation 'R1250:Msantd3'
ID 151718
Institutional Source Beutler Lab
Gene Symbol Msantd3
Ensembl Gene ENSMUSG00000039693
Gene Name Myb/SANT-like DNA-binding domain containing 3
Synonyms 2410046L14Rik, 5730528L13Rik, 2810429P03Rik
MMRRC Submission 039317-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.147) question?
Stock # R1250 (G1)
Quality Score 204
Status Not validated
Chromosome 4
Chromosomal Location 48539935-48561919 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 48552789 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Proline to Glutamine at position 126 (P126Q)
Ref Sequence ENSEMBL: ENSMUSP00000103332 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000061135] [ENSMUST00000064807] [ENSMUST00000107704]
AlphaFold Q9CR78
Predicted Effect probably damaging
Transcript: ENSMUST00000061135
AA Change: P126Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000056551
Gene: ENSMUSG00000039693
AA Change: P126Q

DomainStartEndE-ValueType
Pfam:Myb_DNA-bind_5 9 87 8.7e-25 PFAM
coiled coil region 211 247 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000064807
AA Change: P126Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000065785
Gene: ENSMUSG00000039693
AA Change: P126Q

DomainStartEndE-ValueType
Pfam:Myb_DNA-bind_5 9 87 8.7e-25 PFAM
coiled coil region 211 247 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000107704
AA Change: P126Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000103332
Gene: ENSMUSG00000039693
AA Change: P126Q

DomainStartEndE-ValueType
Pfam:Myb_DNA-bind_5 9 87 5.7e-26 PFAM
coiled coil region 211 247 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000146240
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.5%
  • 20x: 93.6%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 19 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aptx T A 4: 40,693,447 (GRCm39) E162D probably benign Het
Cdhr4 A T 9: 107,874,715 (GRCm39) Q20L probably damaging Het
Dlk1 A T 12: 109,425,744 (GRCm39) T206S probably damaging Het
Gabrr2 T C 4: 33,063,273 (GRCm39) L32P probably benign Het
Gjb3 G A 4: 127,220,224 (GRCm39) R103W probably damaging Het
Kntc1 T A 5: 123,922,262 (GRCm39) S954T possibly damaging Het
Krt28 A G 11: 99,257,648 (GRCm39) probably null Het
Lingo3 T C 10: 80,670,605 (GRCm39) T442A probably benign Het
Map3k5 G A 10: 19,986,521 (GRCm39) A912T possibly damaging Het
Nek10 T C 14: 14,853,887 (GRCm38) S358P probably damaging Het
Prl2c2 G C 13: 13,176,786 (GRCm39) T47R probably damaging Het
Prss59 A T 6: 40,902,909 (GRCm39) probably null Het
Qtrt1 C T 9: 21,330,844 (GRCm39) T324M probably benign Het
Rag2 A G 2: 101,460,784 (GRCm39) S365G probably damaging Het
Slc6a2 C A 8: 93,719,491 (GRCm39) T402K probably benign Het
Slc9b1 T C 3: 135,054,531 (GRCm39) M1T probably null Het
Ttn A G 2: 76,720,904 (GRCm39) probably benign Het
Vmn1r31 A G 6: 58,449,643 (GRCm39) V74A probably benign Het
Zkscan3 A G 13: 21,572,694 (GRCm39) F313L probably benign Het
Other mutations in Msantd3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02252:Msantd3 APN 4 48,560,869 (GRCm39) missense probably benign
IGL02710:Msantd3 APN 4 48,552,686 (GRCm39) missense probably damaging 1.00
R1872:Msantd3 UTSW 4 48,552,771 (GRCm39) missense probably damaging 1.00
R2889:Msantd3 UTSW 4 48,552,494 (GRCm39) missense possibly damaging 0.94
R4660:Msantd3 UTSW 4 48,552,536 (GRCm39) missense probably benign 0.08
R9105:Msantd3 UTSW 4 48,560,963 (GRCm39) missense possibly damaging 0.82
Z1088:Msantd3 UTSW 4 48,552,525 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- GCTCAAGAAGTGCTGGGAGAACATC -3'
(R):5'- GTTTGTGCTAAGCAACCATGCCTC -3'

Sequencing Primer
(F):5'- CTGGGAGAACATCAAGGCTC -3'
(R):5'- ATGCCTCCTTAACGAGCATGG -3'
Posted On 2014-01-29