Incidental Mutation 'R5265:Dmwd'
ID 401651
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 042833-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.181) question?
Stock # R5265 (G1)
Quality Score 225
Status Validated
Chromosome 7
Chromosomal Location 18810152-18816701 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 18814206 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Lysine at position 285 (N285K)
Ref Sequence ENSEMBL: ENSMUSP00000104119 (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 possibly damaging
Transcript: ENSMUST00000032570
AA Change: N285K

PolyPhen 2 Score 0.842 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000032570
Gene: ENSMUSG00000030410
AA Change: N285K

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 possibly damaging
Transcript: ENSMUST00000108479
AA Change: N285K

PolyPhen 2 Score 0.895 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000104119
Gene: ENSMUSG00000030410
AA Change: N285K

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 noncoding transcript
Transcript: ENSMUST00000146429
Predicted Effect noncoding transcript
Transcript: ENSMUST00000138997
Predicted Effect noncoding transcript
Transcript: ENSMUST00000149188
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 0.1795 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 97.0%
  • 20x: 94.7%
Validation Efficiency 100% (59/59)
Allele List at MGI
Other mutations in this stock
Total: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700017B05Rik A G 9: 57,166,177 (GRCm39) W66R probably damaging Het
Adamts3 A G 5: 90,009,411 (GRCm39) V84A possibly damaging Het
Caap1 C A 4: 94,389,465 (GRCm39) E290* probably null Het
Cant1 G A 11: 118,298,876 (GRCm39) R296C probably damaging Het
Cdh5 A T 8: 104,869,371 (GRCm39) H699L probably benign Het
Cfdp1 T C 8: 112,557,617 (GRCm39) T175A probably benign Het
Col4a4 C T 1: 82,471,312 (GRCm39) G681E unknown Het
Comtd1 G A 14: 21,898,861 (GRCm39) T27I probably benign Het
Copg1 T A 6: 87,869,252 (GRCm39) V155D probably damaging Het
Dag1 A G 9: 108,084,898 (GRCm39) Y748H possibly damaging Het
Dsp A G 13: 38,379,159 (GRCm39) E1968G possibly damaging Het
Ednra A G 8: 78,394,004 (GRCm39) I364T probably damaging Het
Elovl3 C A 19: 46,123,120 (GRCm39) T232K probably damaging Het
Ercc3 T A 18: 32,387,296 (GRCm39) I503N probably damaging Het
Ercc6 C A 14: 32,291,580 (GRCm39) A1008D probably benign Het
Gm10563 TTTC TTTCATTC 4: 155,698,953 (GRCm39) probably null Het
H2-DMb2 G T 17: 34,367,536 (GRCm39) V117F probably damaging Het
Helt A T 8: 46,745,470 (GRCm39) W138R probably damaging Het
Itga11 A T 9: 62,644,694 (GRCm39) H215L probably benign Het
Kcnn1 T A 8: 71,307,297 (GRCm39) I156F probably benign Het
Kdm1b A G 13: 47,216,445 (GRCm39) N272D probably benign Het
Kdm2b T C 5: 123,016,651 (GRCm39) T1161A probably damaging Het
Lin54 A G 5: 100,633,378 (GRCm39) L102P probably damaging Het
Mlh1 A C 9: 111,100,591 (GRCm39) M1R probably null Het
Naip2 G A 13: 100,289,068 (GRCm39) L1165F probably damaging Het
Nfkbiz A G 16: 55,640,004 (GRCm39) S118P probably damaging Het
Nkx3-2 T A 5: 41,919,191 (GRCm39) M266L probably benign Het
Npr1 T C 3: 90,364,309 (GRCm39) E771G probably benign Het
Obox8 C T 7: 14,065,954 (GRCm39) R188H probably benign Het
Odad1 T A 7: 45,596,859 (GRCm39) D395E probably damaging Het
Or5h19 A T 16: 58,856,506 (GRCm39) V198D possibly damaging Het
Or5p72 T A 7: 108,022,609 (GRCm39) V277E possibly damaging Het
Palm3 T C 8: 84,748,159 (GRCm39) probably null Het
Palmd A T 3: 116,717,498 (GRCm39) V333D possibly damaging Het
Pikfyve A G 1: 65,306,988 (GRCm39) E1747G possibly damaging Het
Polr3a T C 14: 24,505,009 (GRCm39) I1084V possibly damaging Het
Ranbp3l T A 15: 9,037,077 (GRCm39) F127I probably benign Het
Rsl1d1 A G 16: 11,019,248 (GRCm39) F97L possibly damaging Het
Scaper A G 9: 55,771,830 (GRCm39) V362A probably benign Het
Scg5 A T 2: 113,607,210 (GRCm39) L192* probably null Het
Slc34a2 T C 5: 53,218,776 (GRCm39) I198T probably damaging Het
Slc45a3 T A 1: 131,905,932 (GRCm39) D318E possibly damaging Het
Sorl1 A G 9: 42,017,812 (GRCm39) M105T possibly damaging Het
St3gal5 T A 6: 72,126,115 (GRCm39) I320N probably damaging Het
Stx17 A G 4: 48,183,470 (GRCm39) probably benign Het
Syt5 C T 7: 4,544,074 (GRCm39) probably null Het
Thrap3 A G 4: 126,061,433 (GRCm39) S774P probably damaging Het
Tnc A T 4: 63,911,443 (GRCm39) M1376K probably benign Het
Tnks1bp1 T A 2: 84,893,098 (GRCm39) D1008E probably benign Het
Trav7-1 G T 14: 52,892,761 (GRCm39) A105S probably damaging Het
Vmn1r28 T A 6: 58,242,949 (GRCm39) V264D probably damaging Het
Vmn1r44 T C 6: 89,870,821 (GRCm39) V46A probably benign Het
Vmn2r10 A G 5: 109,143,586 (GRCm39) I788T probably damaging Het
Vmn2r78 T A 7: 86,569,332 (GRCm39) I75N probably damaging Het
Zfp821 T C 8: 110,450,991 (GRCm39) M328T probably damaging Het
Zfp995 G A 17: 22,099,604 (GRCm39) P210L possibly damaging 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
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'- TTGAAGTGGCTGCCTGAGTC -3'
(R):5'- CACAGTGACTAAGTCATCTTCCC -3'

Sequencing Primer
(F):5'- CCTGAGTCAGAGAGTCTGTTCC -3'
(R):5'- CCTCCTGTCACCACGTAGCG -3'
Posted On 2016-07-06