Incidental Mutation 'R1658:Msantd1'
ID 186519
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 039694-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1658 (G1)
Quality Score 182
Status Not validated
Chromosome 5
Chromosomal Location 35071581-35084333 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 35078906 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Glutamine at position 147 (L147Q)
Ref Sequence ENSEMBL: ENSMUSP00000148522 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000050535] [ENSMUST00000202205] [ENSMUST00000212362]
AlphaFold Q8BIL2
Predicted Effect probably benign
Transcript: ENSMUST00000050535
AA Change: L160Q

PolyPhen 2 Score 0.164 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000057362
Gene: ENSMUSG00000051246
AA Change: L160Q

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 benign
Transcript: ENSMUST00000212362
AA Change: L147Q

PolyPhen 2 Score 0.430 (Sensitivity: 0.89; Specificity: 0.90)
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.4%
  • 20x: 92.8%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrd1 T G 5: 129,255,164 (GRCm39) S604A probably benign Het
Apbb1 G A 7: 105,223,291 (GRCm39) P107S probably damaging Het
Baz2a T A 10: 127,960,252 (GRCm39) M1489K probably benign Het
Cd84 A G 1: 171,700,317 (GRCm39) T145A possibly damaging Het
Cdca2 A G 14: 67,915,148 (GRCm39) S704P possibly damaging Het
Cemip2 T C 19: 21,779,243 (GRCm39) V351A probably damaging Het
Chfr T C 5: 110,301,035 (GRCm39) I312T probably damaging Het
Csmd1 A G 8: 16,131,739 (GRCm39) V1662A possibly damaging Het
Dgkd T A 1: 87,853,990 (GRCm39) L611Q probably damaging Het
Dicer1 A G 12: 104,666,673 (GRCm39) V1376A probably benign Het
Elp2 C T 18: 24,750,470 (GRCm39) T269M probably benign Het
Ephb6 T A 6: 41,591,179 (GRCm39) V112E probably damaging Het
Fbxo11 A T 17: 88,320,086 (GRCm39) Y209N probably benign Het
Frem1 C T 4: 82,920,045 (GRCm39) R437Q probably damaging Het
G6pc2 A T 2: 69,057,413 (GRCm39) K353M probably damaging Het
Gabbr1 A G 17: 37,358,399 (GRCm39) T46A probably damaging Het
Gbp9 T A 5: 105,242,334 (GRCm39) Q135L probably damaging Het
Gstp1 A T 19: 4,087,375 (GRCm39) M20K probably damaging Het
Heatr6 A G 11: 83,649,193 (GRCm39) R183G probably damaging Het
Ints11 A G 4: 155,972,185 (GRCm39) K397E probably damaging Het
Intu A G 3: 40,647,211 (GRCm39) T695A probably benign Het
Kif21b T C 1: 136,099,023 (GRCm39) V1437A probably damaging Het
Klhl24 T A 16: 19,925,842 (GRCm39) Y123* probably null Het
Lipm C T 19: 34,093,847 (GRCm39) L255F probably benign Het
Max A T 12: 76,985,355 (GRCm39) M121K probably benign Het
Mga A T 2: 119,772,170 (GRCm39) I1677L possibly damaging Het
Mylk4 T C 13: 32,896,772 (GRCm39) D363G possibly damaging Het
Naaa T C 5: 92,420,300 (GRCm39) probably null Het
Ninl A G 2: 150,806,079 (GRCm39) Y381H probably damaging Het
Nwd2 A G 5: 63,964,589 (GRCm39) N1391S probably damaging Het
Or6k8-ps1 G A 1: 173,979,789 (GRCm39) A236T probably damaging Het
Or8g18 C T 9: 39,149,255 (GRCm39) C155Y probably benign Het
Phip A G 9: 82,753,551 (GRCm39) V1731A probably benign Het
Plxnb1 T A 9: 108,931,939 (GRCm39) C488* probably null Het
Rgs7 T C 1: 174,907,120 (GRCm39) I374V probably benign Het
Rin2 A T 2: 145,718,376 (GRCm39) M574L probably benign Het
Rps18 A T 17: 34,171,392 (GRCm39) D92E probably benign Het
Scrn1 T A 6: 54,497,791 (GRCm39) I267L probably benign Het
Stard9 T C 2: 120,532,023 (GRCm39) V67A probably benign Het
Syne1 T G 10: 5,317,616 (GRCm39) M493L probably benign Het
Tbc1d2 G A 4: 46,614,207 (GRCm39) R625C probably damaging Het
Tcerg1l A G 7: 137,995,909 (GRCm39) S200P probably damaging Het
Tet3 A T 6: 83,346,039 (GRCm39) V1331E probably benign Het
Ticrr A T 7: 79,345,297 (GRCm39) I1721F possibly damaging Het
Tjp2 T C 19: 24,090,311 (GRCm39) D577G probably damaging Het
Tmem38b A G 4: 53,840,713 (GRCm39) M43V probably benign Het
Trabd T A 15: 88,970,069 (GRCm39) probably null Het
Trpv5 C A 6: 41,651,216 (GRCm39) D277Y probably damaging Het
Tubb1 A C 2: 174,298,416 (GRCm39) D67A probably damaging Het
Ubxn7 A G 16: 32,200,054 (GRCm39) probably null Het
Ugp2 G A 11: 21,283,774 (GRCm39) P98S probably benign Het
Vmn2r66 G T 7: 84,656,955 (GRCm39) P150Q probably benign Het
Zbtb11 A T 16: 55,794,588 (GRCm39) H55L possibly damaging 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 35,078,905 (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
Predicted Primers PCR Primer
(F):5'- GCATGACAGATAGCGAGTCCATCC -3'
(R):5'- GATATCAGAGCGTGTCACTGTGCC -3'

Sequencing Primer
(F):5'- AGCCATTGATAGGATTCTGGCC -3'
(R):5'- TCCTATTTGGGAACAGGACAG -3'
Posted On 2014-05-09