Incidental Mutation 'R5018:Dmwd'
ID 389054
Institutional Source Beutler Lab
Gene Symbol Dmwd
Ensembl Gene ENSMUSG00000030410
Gene Name dystrophia myotonica-containing WD repeat motif
Synonyms Dm9, DMR-N9, 59
MMRRC Submission 042609-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.181) question?
Stock # R5018 (G1)
Quality Score 225
Status Validated
Chromosome 7
Chromosomal Location 18810152-18816701 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 18812044 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 166 (D166G)
Ref Sequence ENSEMBL: ENSMUSP00000104119 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032570] [ENSMUST00000035521] [ENSMUST00000076887] [ENSMUST00000108479]
AlphaFold Q08274
Predicted Effect probably damaging
Transcript: ENSMUST00000032570
AA Change: D166G

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000032570
Gene: ENSMUSG00000030410
AA Change: D166G

DomainStartEndE-ValueType
low complexity region 1 17 N/A INTRINSIC
low complexity region 44 92 N/A INTRINSIC
WD40 203 239 4.11e1 SMART
WD40 270 309 3.5e-4 SMART
WD40 312 351 2.01e-4 SMART
WD40 354 436 8.36e-2 SMART
low complexity region 450 471 N/A INTRINSIC
low complexity region 477 503 N/A INTRINSIC
Blast:WD40 509 620 1e-43 BLAST
low complexity region 653 662 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000035521
SMART Domains Protein: ENSMUSP00000046526
Gene: ENSMUSG00000040866

DomainStartEndE-ValueType
low complexity region 42 56 N/A INTRINSIC
Pfam:Radial_spoke 191 685 2.3e-200 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000076887
SMART Domains Protein: ENSMUSP00000076153
Gene: ENSMUSG00000040866

DomainStartEndE-ValueType
low complexity region 42 56 N/A INTRINSIC
Pfam:Radial_spoke 188 287 3e-18 PFAM
Pfam:Radial_spoke 285 433 4.6e-53 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000108479
AA Change: D166G

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000104119
Gene: ENSMUSG00000030410
AA Change: D166G

DomainStartEndE-ValueType
low complexity region 1 17 N/A INTRINSIC
low complexity region 44 92 N/A INTRINSIC
WD40 203 239 4.11e1 SMART
WD40 270 309 3.5e-4 SMART
WD40 312 351 2.01e-4 SMART
WD40 354 436 8.36e-2 SMART
low complexity region 450 471 N/A INTRINSIC
low complexity region 477 503 N/A INTRINSIC
Blast:WD40 509 620 1e-43 BLAST
low complexity region 628 637 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000138997
Predicted Effect noncoding transcript
Transcript: ENSMUST00000146429
Meta Mutation Damage Score 0.5221 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.7%
  • 20x: 93.8%
Validation Efficiency 98% (49/50)
Allele List at MGI
Other mutations in this stock
Total: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamdec1 A T 14: 68,809,228 (GRCm39) F245I probably damaging Het
Agbl5 G A 5: 31,060,403 (GRCm39) R141Q probably damaging Het
Alx4 G T 2: 93,507,764 (GRCm39) G353V probably damaging Het
Apol7b A G 15: 77,308,916 (GRCm39) F61L probably benign Het
Aunip T A 4: 134,250,928 (GRCm39) probably null Het
Bfsp1 C A 2: 143,704,802 (GRCm39) R17L possibly damaging Het
Birc6 T A 17: 74,947,054 (GRCm39) D2926E probably damaging Het
Dnah10 T C 5: 124,839,260 (GRCm39) S1233P possibly damaging Het
Dnah11 G T 12: 118,094,463 (GRCm39) N868K probably benign Het
Eea1 T C 10: 95,846,899 (GRCm39) V393A probably benign Het
Fchsd1 C T 18: 38,092,926 (GRCm39) probably benign Het
Flacc1 A G 1: 58,730,109 (GRCm39) V67A probably benign Het
Fyttd1 A G 16: 32,722,787 (GRCm39) probably null Het
Hal T C 10: 93,343,413 (GRCm39) probably null Het
Hhat A T 1: 192,277,346 (GRCm39) L371Q probably damaging Het
Hpse2 A G 19: 43,373,263 (GRCm39) F122S possibly damaging Het
Kif21b A G 1: 136,099,972 (GRCm39) I1509V probably benign Het
Klhl20 T C 1: 160,929,156 (GRCm39) D334G probably damaging Het
Macf1 C T 4: 123,279,392 (GRCm39) D3870N probably damaging Het
Nlrc5 C T 8: 95,252,080 (GRCm39) A1867V probably damaging Het
Nr1h5 A G 3: 102,855,111 (GRCm39) L330P probably damaging Het
Or10g3b A C 14: 52,586,736 (GRCm39) C256G possibly damaging Het
Pcdh15 T G 10: 74,479,607 (GRCm39) S573A possibly damaging Het
Polr1c G T 17: 46,558,635 (GRCm39) probably benign Het
Scd4 T A 19: 44,326,048 (GRCm39) M134K probably benign Het
Sh3gl2 A G 4: 85,309,291 (GRCm39) probably benign Het
Sin3a T A 9: 57,018,175 (GRCm39) S865T probably benign Het
Slitrk3 G A 3: 72,957,845 (GRCm39) T309I probably benign Het
Sspo G A 6: 48,432,634 (GRCm39) E837K probably damaging Het
Stag1 A G 9: 100,833,672 (GRCm39) D1095G probably benign Het
Trat1 A T 16: 48,555,168 (GRCm39) L188* probably null Het
Ubn1 A G 16: 4,881,589 (GRCm39) D207G probably damaging Het
Ugp2 A G 11: 21,281,052 (GRCm39) Y219H probably damaging Het
Ugt2b1 G T 5: 87,073,821 (GRCm39) Y179* probably null Het
Vmn2r27 T A 6: 124,201,141 (GRCm39) D272V probably benign Het
Vmn2r3 T C 3: 64,178,774 (GRCm39) E497G probably benign Het
Vmn2r91 G T 17: 18,356,700 (GRCm39) C789F probably damaging Het
Zfp276 A G 8: 123,991,716 (GRCm39) probably benign Het
Other mutations in Dmwd
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01620:Dmwd APN 7 18,815,159 (GRCm39) splice site probably null
IGL01668:Dmwd APN 7 18,815,080 (GRCm39) missense probably damaging 1.00
IGL02705:Dmwd APN 7 18,814,769 (GRCm39) missense probably benign 0.02
IGL03036:Dmwd APN 7 18,815,054 (GRCm39) missense probably damaging 1.00
IGL03133:Dmwd APN 7 18,810,562 (GRCm39) missense probably damaging 1.00
PIT4305001:Dmwd UTSW 7 18,814,643 (GRCm39) missense probably damaging 0.99
R0172:Dmwd UTSW 7 18,814,267 (GRCm39) missense probably damaging 1.00
R1619:Dmwd UTSW 7 18,814,959 (GRCm39) unclassified probably benign
R2055:Dmwd UTSW 7 18,810,610 (GRCm39) missense probably benign 0.34
R2058:Dmwd UTSW 7 18,814,652 (GRCm39) missense probably damaging 1.00
R2403:Dmwd UTSW 7 18,815,084 (GRCm39) missense possibly damaging 0.94
R2922:Dmwd UTSW 7 18,810,270 (GRCm39) missense probably damaging 1.00
R3122:Dmwd UTSW 7 18,814,620 (GRCm39) missense probably damaging 1.00
R4876:Dmwd UTSW 7 18,814,472 (GRCm39) missense probably damaging 1.00
R4937:Dmwd UTSW 7 18,815,228 (GRCm39) critical splice donor site probably null
R5034:Dmwd UTSW 7 18,814,219 (GRCm39) missense probably damaging 1.00
R5165:Dmwd UTSW 7 18,811,960 (GRCm39) intron probably benign
R5265:Dmwd UTSW 7 18,814,206 (GRCm39) missense possibly damaging 0.89
R5559:Dmwd UTSW 7 18,814,363 (GRCm39) missense probably damaging 0.99
R6695:Dmwd UTSW 7 18,814,652 (GRCm39) missense probably damaging 1.00
R7106:Dmwd UTSW 7 18,814,454 (GRCm39) missense probably damaging 1.00
R7208:Dmwd UTSW 7 18,814,234 (GRCm39) missense probably benign 0.05
R7681:Dmwd UTSW 7 18,815,007 (GRCm39) missense probably benign 0.23
R7683:Dmwd UTSW 7 18,814,660 (GRCm39) missense probably damaging 1.00
R7760:Dmwd UTSW 7 18,814,660 (GRCm39) missense probably damaging 1.00
R7763:Dmwd UTSW 7 18,814,265 (GRCm39) missense probably damaging 1.00
R7814:Dmwd UTSW 7 18,814,768 (GRCm39) missense probably benign 0.02
R8000:Dmwd UTSW 7 18,814,660 (GRCm39) missense probably damaging 1.00
R8697:Dmwd UTSW 7 18,812,113 (GRCm39) missense probably damaging 1.00
R8868:Dmwd UTSW 7 18,814,694 (GRCm39) missense probably damaging 1.00
R8971:Dmwd UTSW 7 18,814,973 (GRCm39) missense probably damaging 1.00
R9089:Dmwd UTSW 7 18,811,980 (GRCm39) missense probably damaging 0.98
Predicted Primers PCR Primer
(F):5'- TCCCTTGAGGTTAACCCTGC -3'
(R):5'- AGTAGCTGTCTGTCACTTGTCC -3'

Sequencing Primer
(F):5'- GAGGTTAACCCTGCTTCCTCTTAG -3'
(R):5'- TTCCAGGCAGCTTAGTGCAG -3'
Posted On 2016-06-06