Incidental Mutation 'R6086:Dnm3'
ID 482459
Institutional Source Beutler Lab
Gene Symbol Dnm3
Ensembl Gene ENSMUSG00000040265
Gene Name dynamin 3
Synonyms 9630020E24Rik, B230343F03Rik
MMRRC Submission 044427-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6086 (G1)
Quality Score 225.009
Status Validated
Chromosome 1
Chromosomal Location 161810022-162305603 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 162148602 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Serine at position 256 (R256S)
Ref Sequence ENSEMBL: ENSMUSP00000064538 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000070330] [ENSMUST00000086074]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000070330
AA Change: R256S

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000064538
Gene: ENSMUSG00000040265
AA Change: R256S

DomainStartEndE-ValueType
DYNc 6 245 1.48e-182 SMART
PH 516 623 1.58e-11 SMART
GED 644 735 6.82e-33 SMART
low complexity region 738 751 N/A INTRINSIC
low complexity region 756 771 N/A INTRINSIC
low complexity region 799 812 N/A INTRINSIC
low complexity region 824 852 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000086074
AA Change: R256S

PolyPhen 2 Score 0.922 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000083241
Gene: ENSMUSG00000040265
AA Change: R256S

DomainStartEndE-ValueType
DYNc 6 245 1.48e-182 SMART
PH 516 623 1.58e-11 SMART
GED 648 739 6.82e-33 SMART
low complexity region 742 755 N/A INTRINSIC
low complexity region 760 775 N/A INTRINSIC
low complexity region 803 816 N/A INTRINSIC
low complexity region 828 856 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000160695
Predicted Effect noncoding transcript
Transcript: ENSMUST00000161155
Meta Mutation Damage Score 0.2216 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.2%
  • 20x: 94.9%
Validation Efficiency 96% (65/68)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of a family of guanosine triphosphate (GTP)-binding proteins that associate with microtubules and are involved in vesicular transport. The encoded protein functions in the development of megakaryocytes. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2013]
PHENOTYPE: Mice homozygous for a targeted allele are viable and fertile. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 65 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Apob G T 12: 8,065,164 (GRCm39) K4044N probably benign Het
Asic4 G A 1: 75,449,887 (GRCm39) V468I possibly damaging Het
Atf4 T A 15: 80,141,654 (GRCm39) V348D probably benign Het
Bcl9 A G 3: 97,112,840 (GRCm39) V1205A possibly damaging Het
Bora A T 14: 99,299,730 (GRCm39) Q234L possibly damaging Het
Cap2 C A 13: 46,789,188 (GRCm39) P131Q probably damaging Het
Cdyl2 A G 8: 117,316,035 (GRCm39) S318P probably damaging Het
Ces1a T G 8: 93,753,981 (GRCm39) N341H probably benign Het
Cimap2 T C 4: 106,470,403 (GRCm39) E218G probably damaging Het
Crlf3 C T 11: 79,939,436 (GRCm39) V352M possibly damaging Het
Cybb C G X: 9,316,989 (GRCm39) D246H probably benign Het
Cyren A G 6: 34,851,555 (GRCm39) S127P probably damaging Het
Dnah2 T C 11: 69,406,834 (GRCm39) T529A probably benign Het
Dnah9 C T 11: 65,880,741 (GRCm39) D2619N probably damaging Het
Dnah9 A C 11: 65,976,000 (GRCm39) S1350A probably benign Het
Dnajc6 C T 4: 101,455,004 (GRCm39) S65L probably benign Het
Enpp2 T C 15: 54,709,230 (GRCm39) D795G probably damaging Het
Fah A T 7: 84,238,120 (GRCm39) W367R probably damaging Het
Fam220a T A 5: 143,548,796 (GRCm39) H69Q probably benign Het
Fgd3 T A 13: 49,440,772 (GRCm39) T220S probably benign Het
Furin G T 7: 80,045,179 (GRCm39) H248Q probably damaging Het
Gabrg1 A T 5: 70,911,396 (GRCm39) L410Q probably damaging Het
Gm10801 AAGT AAGTAGT 2: 98,494,148 (GRCm39) probably null Het
Gm9742 T C 13: 8,080,069 (GRCm39) noncoding transcript Het
Gpcpd1 A G 2: 132,380,034 (GRCm39) S252P probably damaging Het
Hnrnpdl C T 5: 100,184,340 (GRCm39) G398S probably null Het
Hspa1l T C 17: 35,197,131 (GRCm39) V390A possibly damaging Het
Htr3b T C 9: 48,858,598 (GRCm39) S94G probably benign Het
Klf10 G T 15: 38,297,181 (GRCm39) S271R probably benign Het
Klk1b3 T A 7: 43,851,158 (GRCm39) L197Q probably damaging Het
Knl1 A G 2: 118,924,549 (GRCm39) R1861G probably damaging Het
Myo9a C T 9: 59,697,340 (GRCm39) Q374* probably null Het
Myt1l G A 12: 29,882,331 (GRCm39) G509R unknown Het
Ncapg T C 5: 45,850,578 (GRCm39) L728P probably damaging Het
Nfxl1 A C 5: 72,698,362 (GRCm39) F228V probably benign Het
Ntaq1 C A 15: 58,014,024 (GRCm39) A71E probably damaging Het
Oc90 A G 15: 65,761,560 (GRCm39) S153P probably damaging Het
Or4c123 A G 2: 89,127,198 (GRCm39) C139R probably damaging Het
Or5b105 A G 19: 13,079,745 (GRCm39) *308Q probably null Het
Pbk A T 14: 66,052,702 (GRCm39) K182* probably null Het
Piezo1 A G 8: 123,228,396 (GRCm39) F296S possibly damaging Het
Psmg1 T A 16: 95,781,244 (GRCm39) Y288F probably damaging Het
Rab11fip4 G A 11: 79,574,306 (GRCm39) D132N probably damaging Het
Recql4 T C 15: 76,588,787 (GRCm39) D1051G probably damaging Het
Reep5 A C 18: 34,490,184 (GRCm39) D104E probably damaging Het
Rnpepl1 T C 1: 92,845,403 (GRCm39) Y441H probably damaging Het
Scnm1 T C 3: 95,037,596 (GRCm39) I157V probably benign Het
Sema3b T C 9: 107,478,047 (GRCm39) D446G probably damaging Het
Sema4d C T 13: 51,867,781 (GRCm39) R190Q probably damaging Het
Slco3a1 G A 7: 73,968,338 (GRCm39) R461C possibly damaging Het
Spmap2l T A 5: 77,209,152 (GRCm39) V458E probably benign Het
Tenm2 T A 11: 35,899,473 (GRCm39) I2562F possibly damaging Het
Tmem40 G T 6: 115,710,628 (GRCm39) N120K possibly damaging Het
Tmod3 T C 9: 75,407,405 (GRCm39) H351R probably benign Het
Tnn C T 1: 159,913,690 (GRCm39) V1268M probably damaging Het
Tpmt T A 13: 47,188,506 (GRCm39) D132V probably damaging Het
Trgc3 T C 13: 19,447,454 (GRCm39) S136P probably damaging Het
Trib1 G A 15: 59,526,324 (GRCm39) R298H probably damaging Het
Tsen2 A G 6: 115,537,036 (GRCm39) E264G probably benign Het
Urah A G 7: 140,416,711 (GRCm39) I60M probably benign Het
Vmn2r26 T A 6: 124,016,519 (GRCm39) S328T possibly damaging Het
Vmn2r27 G C 6: 124,168,958 (GRCm39) T724R probably damaging Het
Washc2 A G 6: 116,233,177 (GRCm39) probably null Het
Zfp955b T A 17: 33,521,478 (GRCm39) W316R probably benign Het
Zranb2 T C 3: 157,248,883 (GRCm39) probably null Het
Other mutations in Dnm3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00552:Dnm3 APN 1 161,839,495 (GRCm39) missense probably damaging 1.00
IGL02444:Dnm3 APN 1 161,838,444 (GRCm39) missense possibly damaging 0.46
IGL02481:Dnm3 APN 1 161,838,471 (GRCm39) missense probably damaging 0.99
IGL02623:Dnm3 APN 1 162,183,001 (GRCm39) missense probably damaging 0.99
IGL03132:Dnm3 APN 1 161,838,674 (GRCm39) critical splice acceptor site probably null
IGL03330:Dnm3 APN 1 162,148,560 (GRCm39) missense probably benign 0.00
fever UTSW 1 162,148,696 (GRCm39) splice site probably null
nobel UTSW 1 162,305,274 (GRCm39) missense probably damaging 1.00
splotare UTSW 1 162,148,556 (GRCm39) missense probably damaging 0.98
LCD18:Dnm3 UTSW 1 162,234,130 (GRCm39) intron probably benign
R0066:Dnm3 UTSW 1 162,234,930 (GRCm39) missense probably damaging 0.98
R0066:Dnm3 UTSW 1 162,234,930 (GRCm39) missense probably damaging 0.98
R0240:Dnm3 UTSW 1 162,181,194 (GRCm39) missense probably benign 0.00
R0240:Dnm3 UTSW 1 162,181,194 (GRCm39) missense probably benign 0.00
R0968:Dnm3 UTSW 1 161,847,388 (GRCm39) splice site probably benign
R1161:Dnm3 UTSW 1 162,181,143 (GRCm39) missense probably benign 0.06
R1680:Dnm3 UTSW 1 161,838,545 (GRCm39) missense probably benign 0.12
R1747:Dnm3 UTSW 1 162,141,153 (GRCm39) missense probably damaging 1.00
R1881:Dnm3 UTSW 1 162,305,517 (GRCm39) start gained probably benign
R1997:Dnm3 UTSW 1 162,181,281 (GRCm39) missense possibly damaging 0.60
R2157:Dnm3 UTSW 1 162,135,462 (GRCm39) missense possibly damaging 0.95
R2270:Dnm3 UTSW 1 162,305,358 (GRCm39) missense probably damaging 1.00
R2897:Dnm3 UTSW 1 162,113,643 (GRCm39) splice site probably benign
R3018:Dnm3 UTSW 1 162,149,328 (GRCm39) nonsense probably null
R3851:Dnm3 UTSW 1 162,148,696 (GRCm39) splice site probably null
R3861:Dnm3 UTSW 1 162,138,974 (GRCm39) missense possibly damaging 0.79
R3930:Dnm3 UTSW 1 161,911,699 (GRCm39) missense probably damaging 1.00
R4432:Dnm3 UTSW 1 161,819,566 (GRCm39) intron probably benign
R5318:Dnm3 UTSW 1 161,839,376 (GRCm39) nonsense probably null
R5361:Dnm3 UTSW 1 161,838,471 (GRCm39) missense probably damaging 0.99
R5606:Dnm3 UTSW 1 162,113,587 (GRCm39) missense probably damaging 0.99
R5783:Dnm3 UTSW 1 162,183,040 (GRCm39) missense possibly damaging 0.70
R6019:Dnm3 UTSW 1 161,962,070 (GRCm39) missense probably damaging 0.99
R6072:Dnm3 UTSW 1 161,838,637 (GRCm39) small deletion probably benign
R6110:Dnm3 UTSW 1 161,838,637 (GRCm39) small deletion probably benign
R6158:Dnm3 UTSW 1 162,148,556 (GRCm39) missense probably damaging 0.98
R6473:Dnm3 UTSW 1 162,305,274 (GRCm39) missense probably damaging 1.00
R6499:Dnm3 UTSW 1 162,141,164 (GRCm39) missense probably damaging 1.00
R6702:Dnm3 UTSW 1 162,146,256 (GRCm39) missense probably benign 0.04
R6703:Dnm3 UTSW 1 162,146,256 (GRCm39) missense probably benign 0.04
R6739:Dnm3 UTSW 1 162,305,352 (GRCm39) missense probably damaging 0.99
R6811:Dnm3 UTSW 1 162,148,652 (GRCm39) missense probably damaging 0.96
R6915:Dnm3 UTSW 1 162,145,966 (GRCm39) splice site probably null
R6946:Dnm3 UTSW 1 162,141,224 (GRCm39) missense possibly damaging 0.91
R7062:Dnm3 UTSW 1 161,962,060 (GRCm39) nonsense probably null
R7067:Dnm3 UTSW 1 162,148,540 (GRCm39) missense probably damaging 1.00
R7071:Dnm3 UTSW 1 161,847,412 (GRCm39) missense probably damaging 0.99
R7468:Dnm3 UTSW 1 162,149,198 (GRCm39) splice site probably null
R7521:Dnm3 UTSW 1 161,962,113 (GRCm39) missense probably damaging 1.00
R7583:Dnm3 UTSW 1 162,305,343 (GRCm39) missense possibly damaging 0.93
R7667:Dnm3 UTSW 1 161,839,399 (GRCm39) missense probably damaging 1.00
R7711:Dnm3 UTSW 1 161,819,622 (GRCm39) missense possibly damaging 0.83
R7837:Dnm3 UTSW 1 161,819,619 (GRCm39) missense possibly damaging 0.94
R7838:Dnm3 UTSW 1 161,819,619 (GRCm39) missense possibly damaging 0.94
R7900:Dnm3 UTSW 1 162,182,940 (GRCm39) missense probably benign 0.00
R7939:Dnm3 UTSW 1 162,123,165 (GRCm39) missense possibly damaging 0.91
R8059:Dnm3 UTSW 1 161,911,708 (GRCm39) missense probably damaging 1.00
R8123:Dnm3 UTSW 1 161,838,672 (GRCm39) missense probably benign 0.01
R8246:Dnm3 UTSW 1 162,135,486 (GRCm39) missense probably damaging 1.00
R8249:Dnm3 UTSW 1 162,305,312 (GRCm39) nonsense probably null
R8511:Dnm3 UTSW 1 162,113,611 (GRCm39) missense possibly damaging 0.69
R8900:Dnm3 UTSW 1 162,135,445 (GRCm39) missense probably benign 0.17
R8976:Dnm3 UTSW 1 162,135,505 (GRCm39) missense probably damaging 1.00
R9455:Dnm3 UTSW 1 162,148,524 (GRCm39) missense possibly damaging 0.88
R9604:Dnm3 UTSW 1 161,838,584 (GRCm39) missense possibly damaging 0.55
R9617:Dnm3 UTSW 1 162,149,354 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- GCAGAGTGAGTCTTACCTGG -3'
(R):5'- CAGTGAGGTCTTGGATGGAAC -3'

Posted On 2017-07-14