Incidental Mutation 'R7327:Msantd1'
ID 568975
Institutional Source Beutler Lab
Gene Symbol Msantd1
Ensembl Gene ENSMUSG00000051246
Gene Name Myb/SANT-like DNA-binding domain containing 1
Synonyms A930005I04Rik, LOC231132
MMRRC Submission 045420-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7327 (G1)
Quality Score 211.009
Status Validated
Chromosome 5
Chromosomal Location 35071581-35084333 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 35075039 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 34 (S34P)
Ref Sequence ENSEMBL: ENSMUSP00000057362 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000050535] [ENSMUST00000202205] [ENSMUST00000212362]
AlphaFold Q8BIL2
Predicted Effect probably damaging
Transcript: ENSMUST00000050535
AA Change: S34P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000057362
Gene: ENSMUSG00000051246
AA Change: S34P

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 unknown
Transcript: ENSMUST00000202205
AA Change: S34P
SMART Domains Protein: ENSMUSP00000144008
Gene: ENSMUSG00000051246
AA Change: S34P

DomainStartEndE-ValueType
Pfam:Myb_DNA-bind_4 43 129 9.4e-9 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000212362
AA Change: S21P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency 100% (63/63)
Allele List at MGI
Other mutations in this stock
Total: 62 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcf3 C T 16: 20,367,430 (GRCm39) T3I probably benign Het
Ahi1 T A 10: 20,862,976 (GRCm39) V717E probably damaging Het
Anapc4 A G 5: 53,002,672 (GRCm39) T238A probably damaging Het
Arhgap27 A T 11: 103,251,367 (GRCm39) C120* probably null Het
Bdp1 A T 13: 100,178,040 (GRCm39) V1943D probably damaging Het
Cdc14b A G 13: 64,373,461 (GRCm39) V141A probably damaging Het
Cfap46 G T 7: 139,215,062 (GRCm39) probably null Het
Cgnl1 C A 9: 71,633,165 (GRCm39) R62L possibly damaging Het
Chaf1a A G 17: 56,369,573 (GRCm39) S522G probably benign Het
Cox19 A G 5: 139,328,402 (GRCm39) F37S probably damaging Het
Csmd1 G A 8: 16,108,721 (GRCm39) S1894L probably damaging Het
Cyp4a12a A T 4: 115,184,756 (GRCm39) R346W probably damaging Het
Dip2a A C 10: 76,108,396 (GRCm39) C1315G probably benign Het
Dmxl2 A C 9: 54,308,869 (GRCm39) W1961G probably damaging Het
Dst T C 1: 34,240,486 (GRCm39) L1945P probably damaging Het
Efr3a A G 15: 65,691,627 (GRCm39) S92G probably damaging Het
Ep300 C T 15: 81,511,515 (GRCm39) T865I unknown Het
Ercc6 A G 14: 32,248,361 (GRCm39) E304G probably benign Het
Filip1l A C 16: 57,391,300 (GRCm39) E629D probably damaging Het
Frem1 G A 4: 82,938,992 (GRCm39) T30I possibly damaging Het
Glb1 T C 9: 114,246,126 (GRCm39) F59S probably benign Het
Gli3 T C 13: 15,900,144 (GRCm39) L1177P probably benign Het
Gpatch2l A G 12: 86,303,646 (GRCm39) T223A probably damaging Het
Gpt2 G A 8: 86,244,681 (GRCm39) E325K probably benign Het
Hmcn1 A T 1: 150,479,565 (GRCm39) M4633K probably benign Het
Hoxc8 T A 15: 102,899,542 (GRCm39) Y111N probably damaging Het
Ifi207 A G 1: 173,556,581 (GRCm39) L726P probably benign Het
Iqcn T A 8: 71,169,453 (GRCm39) M1181K possibly damaging Het
Iqgap2 T A 13: 95,772,163 (GRCm39) M1339L probably benign Het
Kif21b A G 1: 136,087,387 (GRCm39) Q901R possibly damaging Het
Krtap4-8 C A 11: 99,671,234 (GRCm39) C79F unknown Het
Ldb3 T C 14: 34,293,759 (GRCm39) N155S probably damaging Het
Mad2l1 T A 6: 66,516,794 (GRCm39) V162E probably benign Het
Map7 T A 10: 20,109,208 (GRCm39) V87E unknown Het
Mndal A T 1: 173,703,185 (GRCm39) D73E unknown Het
Myh14 T C 7: 44,260,977 (GRCm39) Q1838R possibly damaging Het
Myh15 G T 16: 48,993,369 (GRCm39) R1668L possibly damaging Het
Ncoa7 A G 10: 30,565,796 (GRCm39) M666T probably damaging Het
Nol6 A T 4: 41,116,686 (GRCm39) L944Q probably benign Het
Or5h27 A T 16: 59,006,376 (GRCm39) F157I unknown Het
Orc1 A G 4: 108,445,911 (GRCm39) T10A probably benign Het
Pcp4l1 G A 1: 171,002,034 (GRCm39) A42V possibly damaging Het
Pglyrp2 C T 17: 32,634,893 (GRCm39) A490T probably benign Het
Pirb A T 7: 3,720,187 (GRCm39) C395* probably null Het
Ppp1r11 T C 17: 37,261,900 (GRCm39) R12G possibly damaging Het
Prlr A G 15: 10,346,524 (GRCm39) D290G probably benign Het
Ptpn21 G T 12: 98,646,360 (GRCm39) R1033S probably damaging Het
Rad54l2 A G 9: 106,570,660 (GRCm39) L1220P possibly damaging Het
Rufy3 G A 5: 88,790,811 (GRCm39) R504H probably damaging Het
Scgb2b21 C T 7: 33,219,330 (GRCm39) V25I probably benign Het
Sh3bgrl2 T C 9: 83,430,542 (GRCm39) S11P possibly damaging Het
Slain2 A T 5: 73,132,002 (GRCm39) T498S probably benign Het
Slc12a4 C T 8: 106,682,347 (GRCm39) G121S probably damaging Het
Slc30a9 A T 5: 67,499,462 (GRCm39) I307F probably damaging Het
Snap91 C T 9: 86,655,598 (GRCm39) G800R unknown Het
Tnc G T 4: 63,882,999 (GRCm39) probably null Het
Trav21-dv12 T C 14: 54,113,514 (GRCm39) probably benign Het
Txk A T 5: 72,873,226 (GRCm39) I228N probably damaging Het
Vac14 T C 8: 111,438,252 (GRCm39) Y622H probably damaging Het
Vmn2r111 T C 17: 22,778,032 (GRCm39) N549S possibly damaging Het
Wdr35 T G 12: 9,037,312 (GRCm39) M306R probably benign Het
Zan A T 5: 137,463,494 (GRCm39) S562T probably benign Het
Other mutations in Msantd1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02514:Msantd1 APN 5 35,078,887 (GRCm39) missense probably damaging 0.99
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
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
Predicted Primers PCR Primer
(F):5'- CTGTCAGATGTAGGCCCCATTTTG -3'
(R):5'- TGCTCACCTGTACTGGAAGG -3'

Sequencing Primer
(F):5'- AGGCCCCATTTTGAGCGTG -3'
(R):5'- CTCACCTGTACTGGAAGGTCATG -3'
Posted On 2019-09-13