Incidental Mutation 'R7681:Dmwd'
ID 592757
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 045747-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.181) question?
Stock # R7681 (G1)
Quality Score 225.009
Status Validated
Chromosome 7
Chromosomal Location 18810152-18816701 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 18815007 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Lysine at position 552 (N552K)
Ref Sequence ENSEMBL: ENSMUSP00000032570 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032568] [ENSMUST00000032570] [ENSMUST00000108473] [ENSMUST00000108474] [ENSMUST00000108479] [ENSMUST00000122999] [ENSMUST00000154199]
AlphaFold Q08274
Predicted Effect probably benign
Transcript: ENSMUST00000032568
SMART Domains Protein: ENSMUSP00000032568
Gene: ENSMUSG00000030409

DomainStartEndE-ValueType
low complexity region 5 31 N/A INTRINSIC
S_TKc 71 339 6.5e-87 SMART
S_TK_X 340 407 3.6e-11 SMART
Pfam:DMPK_coil 472 532 2.8e-25 PFAM
low complexity region 590 613 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000032570
AA Change: N552K

PolyPhen 2 Score 0.227 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000032570
Gene: ENSMUSG00000030410
AA Change: N552K

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: ENSMUST00000108473
SMART Domains Protein: ENSMUSP00000104113
Gene: ENSMUSG00000030409

DomainStartEndE-ValueType
low complexity region 5 31 N/A INTRINSIC
S_TKc 71 339 1.36e-84 SMART
S_TK_X 340 407 7.5e-9 SMART
Pfam:DMPK_coil 472 532 2.2e-28 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000108474
SMART Domains Protein: ENSMUSP00000104114
Gene: ENSMUSG00000030409

DomainStartEndE-ValueType
low complexity region 5 31 N/A INTRINSIC
S_TKc 71 336 2.57e-76 SMART
Pfam:DMPK_coil 446 506 2.4e-28 PFAM
low complexity region 564 587 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000108479
AA Change: N552K

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000104119
Gene: ENSMUSG00000030410
AA Change: N552K

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 probably benign
Transcript: ENSMUST00000122999
SMART Domains Protein: ENSMUSP00000123516
Gene: ENSMUSG00000030409

DomainStartEndE-ValueType
low complexity region 5 31 N/A INTRINSIC
PDB:2VD5|B 32 139 3e-62 PDB
SCOP:d1koba_ 44 139 3e-21 SMART
Blast:S_TKc 71 139 7e-36 BLAST
Predicted Effect probably benign
Transcript: ENSMUST00000154199
SMART Domains Protein: ENSMUSP00000118459
Gene: ENSMUSG00000030409

DomainStartEndE-ValueType
low complexity region 5 31 N/A INTRINSIC
S_TKc 71 339 1.36e-84 SMART
S_TK_X 340 402 5.3e-9 SMART
Pfam:DMPK_coil 467 527 2.3e-28 PFAM
Meta Mutation Damage Score 0.0846 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.3%
Validation Efficiency 97% (58/60)
Allele List at MGI
Other mutations in this stock
Total: 62 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb1b C T 5: 8,899,619 (GRCm39) A963V probably benign Het
Agbl1 T C 7: 76,094,649 (GRCm39) V760A unknown Het
Akap13 T C 7: 75,378,544 (GRCm39) F347L possibly damaging Het
Anapc5 A T 5: 122,940,202 (GRCm39) F356L probably benign Het
Bmp6 A G 13: 38,530,171 (GRCm39) H88R probably damaging Het
Cblb C A 16: 52,025,001 (GRCm39) S921R probably damaging Het
Ccs T A 19: 4,882,858 (GRCm39) probably null Het
Cyp20a1 A G 1: 60,392,192 (GRCm39) T83A probably benign Het
Defa25 T A 8: 21,574,535 (GRCm39) D26E probably benign Het
Dnah17 C T 11: 117,916,012 (GRCm39) V4297M probably damaging Het
Fam135a A T 1: 24,106,996 (GRCm39) S47R probably benign Het
Fbxo41 A T 6: 85,455,461 (GRCm39) C574* probably null Het
Fgb T C 3: 82,957,139 (GRCm39) probably benign Het
Fgfr1 C T 8: 26,045,677 (GRCm39) T82I probably damaging Het
Fhod3 T A 18: 25,123,095 (GRCm39) L262M probably damaging Het
Galnt16 A T 12: 80,637,413 (GRCm39) Q380L probably damaging Het
Glp2r C T 11: 67,600,505 (GRCm39) G448D probably benign Het
Gnb4 C A 3: 32,641,902 (GRCm39) A242S possibly damaging Het
Golim4 T C 3: 75,794,331 (GRCm39) probably null Het
Grik2 G T 10: 49,120,476 (GRCm39) N604K probably damaging Het
Hnf1b T G 11: 83,779,972 (GRCm39) I435S probably damaging Het
Hoxa11 C T 6: 52,222,099 (GRCm39) G201S probably benign Het
Hpse A G 5: 100,839,257 (GRCm39) S364P possibly damaging Het
Kif16b A T 2: 142,598,046 (GRCm39) N525K probably damaging Het
Kif1a A T 1: 92,982,666 (GRCm39) C704S probably benign Het
Limk2 A G 11: 3,303,354 (GRCm39) S322P probably damaging Het
Lrp1b A T 2: 40,765,011 (GRCm39) C2938* probably null Het
Malrd1 A G 2: 16,222,913 (GRCm39) R2071G unknown Het
Man2a2 T A 7: 80,001,497 (GRCm39) I1137F possibly damaging Het
Map2k6 C T 11: 110,388,729 (GRCm39) R224* probably null Het
Map3k4 G A 17: 12,537,430 (GRCm39) P29L unknown Het
Morn5 A T 2: 35,947,156 (GRCm39) N145Y possibly damaging Het
Muc20 T C 16: 32,613,989 (GRCm39) T463A probably benign Het
Myh10 C T 11: 68,662,762 (GRCm39) T642I probably damaging Het
Myh14 C A 7: 44,273,572 (GRCm39) R1362L possibly damaging Het
Nup88 C A 11: 70,860,711 (GRCm39) V23L probably benign Het
Ogfr GGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGG GGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGG 2: 180,237,059 (GRCm39) probably benign Het
Or13p8 A G 4: 118,583,761 (GRCm39) I106V probably benign Het
Or4c116 A C 2: 88,941,935 (GRCm39) V307G probably benign Het
Or5p56 T C 7: 107,590,355 (GRCm39) M261T possibly damaging Het
Pabpn1 T C 14: 55,135,499 (GRCm39) Y299H probably damaging Het
Pak4 T C 7: 28,259,655 (GRCm39) E514G probably damaging Het
Ppp1r12b A C 1: 134,793,673 (GRCm39) S564A probably benign Het
Psmc2 T C 5: 22,008,272 (GRCm39) probably null Het
Psme4 A G 11: 30,741,975 (GRCm39) Y146C possibly damaging Het
Rb1cc1 A G 1: 6,310,547 (GRCm39) D315G probably damaging Het
Rilpl1 A G 5: 124,668,976 (GRCm39) V24A possibly damaging Het
Rtel1 A T 2: 180,964,187 (GRCm39) H62L probably damaging Het
Ruvbl1 G A 6: 88,444,635 (GRCm39) probably null Het
Scn5a A G 9: 119,359,043 (GRCm39) V668A probably benign Het
Slc22a6 G A 19: 8,603,493 (GRCm39) G519E probably benign Het
Slc43a2 T A 11: 75,454,499 (GRCm39) I348N probably benign Het
Slc6a16 T A 7: 44,910,338 (GRCm39) L347Q probably damaging Het
Smg6 T A 11: 74,822,531 (GRCm39) L658H probably damaging Het
Spata31e4 C T 13: 50,856,290 (GRCm39) P643S possibly damaging Het
Spidr C A 16: 15,713,488 (GRCm39) G832W probably damaging Het
Ssrp1 G A 2: 84,876,092 (GRCm39) G616E probably benign Het
Sult1b1 G A 5: 87,678,495 (GRCm39) L110F probably damaging Het
Tfec T A 6: 16,834,235 (GRCm39) H224L probably benign Het
Ttn C T 2: 76,539,295 (GRCm39) E34564K probably benign Het
Washc2 A G 6: 116,237,618 (GRCm39) D1285G probably damaging Het
Zfp870 T C 17: 33,101,664 (GRCm39) E555G 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
R5018:Dmwd UTSW 7 18,812,044 (GRCm39) missense probably damaging 0.99
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
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'- CCAGCTTCTGGTAGTTCTCG -3'
(R):5'- CAGTGATGATACAATCCTCCAGG -3'

Sequencing Primer
(F):5'- TAGTTCTCGGGCCGGAGAG -3'
(R):5'- TCCAGGAACAGTAGCACGGTC -3'
Posted On 2019-11-12