Incidental Mutation 'IGL02481:Dnm3'
ID 295224
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Dnm3
Ensembl Gene ENSMUSG00000040265
Gene Name dynamin 3
Synonyms 9630020E24Rik, B230343F03Rik
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL02481
Quality Score
Status
Chromosome 1
Chromosomal Location 161810022-162305603 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 161838471 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 826 (S826P)
Ref Sequence ENSEMBL: ENSMUSP00000064538 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000070330] [ENSMUST00000086074] [ENSMUST00000159763] [ENSMUST00000160665]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000070330
AA Change: S826P

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000064538
Gene: ENSMUSG00000040265
AA Change: S826P

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: S830P

PolyPhen 2 Score 0.734 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000083241
Gene: ENSMUSG00000040265
AA Change: S830P

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 unknown
Transcript: ENSMUST00000159763
AA Change: S297P
SMART Domains Protein: ENSMUSP00000125356
Gene: ENSMUSG00000040265
AA Change: S297P

DomainStartEndE-ValueType
PH 1 94 5.13e-2 SMART
GED 115 206 6.82e-33 SMART
low complexity region 209 222 N/A INTRINSIC
low complexity region 227 242 N/A INTRINSIC
low complexity region 270 283 N/A INTRINSIC
low complexity region 295 319 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000160555
Predicted Effect probably benign
Transcript: ENSMUST00000160665
AA Change: S297P

PolyPhen 2 Score 0.412 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000124593
Gene: ENSMUSG00000040265
AA Change: S297P

DomainStartEndE-ValueType
PH 1 94 5.13e-2 SMART
GED 115 206 6.82e-33 SMART
low complexity region 209 222 N/A INTRINSIC
low complexity region 227 242 N/A INTRINSIC
low complexity region 270 283 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000161583
Predicted Effect noncoding transcript
Transcript: ENSMUST00000161826
Coding Region Coverage
Validation Efficiency
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: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Akr1b8 G A 6: 34,340,729 (GRCm39) A209T probably damaging Het
Ccdc90b G A 7: 92,223,854 (GRCm39) V117I probably benign Het
Cdkl2 A T 5: 92,185,130 (GRCm39) I87N probably damaging Het
Cfap57 T A 4: 118,438,302 (GRCm39) E863V probably damaging Het
Clca3a2 G A 3: 144,790,701 (GRCm39) S457L possibly damaging Het
Crim1 C T 17: 78,658,227 (GRCm39) T702I probably damaging Het
Cysltr1 C A X: 105,621,728 (GRCm39) V253L probably damaging Het
Dgcr6 G A 16: 17,883,038 (GRCm39) A6T possibly damaging Het
Dis3l T C 9: 64,226,362 (GRCm39) probably null Het
Dspp A G 5: 104,323,514 (GRCm39) N219S possibly damaging Het
Dzip3 T C 16: 48,795,914 (GRCm39) probably benign Het
Erc2 T A 14: 27,375,028 (GRCm39) L82Q probably damaging Het
Ercc6l T C X: 101,188,275 (GRCm39) T745A probably benign Het
Gata4 T C 14: 63,437,910 (GRCm39) T414A probably benign Het
Gmps A G 3: 63,921,773 (GRCm39) D592G probably damaging Het
Grin3a A G 4: 49,702,868 (GRCm39) Y873H probably damaging Het
Gsr T C 8: 34,175,569 (GRCm39) probably benign Het
Gtf2h1 T C 7: 46,454,417 (GRCm39) L133P probably damaging Het
Ifna5 A C 4: 88,754,327 (GRCm39) E189A probably benign Het
Irx5 A G 8: 93,087,307 (GRCm39) Y413C probably damaging Het
Kcnk3 A G 5: 30,779,727 (GRCm39) E259G probably damaging Het
Kcnt2 T C 1: 140,282,299 (GRCm39) probably benign Het
Kif19a A G 11: 114,679,979 (GRCm39) E772G probably benign Het
Klhdc7a T A 4: 139,693,121 (GRCm39) T609S probably benign Het
Krt78 C A 15: 101,856,853 (GRCm39) probably benign Het
Lca5 A T 9: 83,305,170 (GRCm39) I212N probably damaging Het
Lgr6 T C 1: 134,929,429 (GRCm39) probably benign Het
Madd T G 2: 91,008,381 (GRCm39) T174P probably damaging Het
Mcm9 A G 10: 53,502,033 (GRCm39) I184T probably damaging Het
Mlycd G A 8: 120,137,073 (GRCm39) R431H probably damaging Het
Myh10 G A 11: 68,692,994 (GRCm39) A1393T probably benign Het
Myof G T 19: 37,926,361 (GRCm39) Y1144* probably null Het
Nbeal2 G A 9: 110,455,063 (GRCm39) Q2578* probably null Het
Nlrp4f T A 13: 65,342,548 (GRCm39) T366S probably benign Het
Nnat T C 2: 157,403,167 (GRCm39) F36S possibly damaging Het
Nsd3 C A 8: 26,181,143 (GRCm39) P915T probably damaging Het
Or10ak12 C T 4: 118,666,696 (GRCm39) V122M probably benign Het
Or10k2 A C 8: 84,268,015 (GRCm39) M81L possibly damaging Het
Or1n1 A T 2: 36,749,830 (GRCm39) C177S probably damaging Het
Or2g25 A G 17: 37,970,363 (GRCm39) L287P probably damaging Het
Or4l1 G A 14: 50,166,164 (GRCm39) T279I probably damaging Het
Pkd1l3 A G 8: 110,341,414 (GRCm39) N89S unknown Het
Pkd2 T C 5: 104,634,636 (GRCm39) F556L probably damaging Het
Psen2 T A 1: 180,062,626 (GRCm39) M239L probably damaging Het
Rad50 A G 11: 53,570,876 (GRCm39) I794T probably benign Het
Ralgps1 G A 2: 33,230,741 (GRCm39) T14I probably benign Het
Rnpepl1 C T 1: 92,843,629 (GRCm39) P250S probably damaging Het
Skic8 T C 9: 54,635,545 (GRCm39) I19V probably damaging Het
Slc47a2 A G 11: 61,227,067 (GRCm39) V167A possibly damaging Het
Tmem161b T A 13: 84,432,112 (GRCm39) V41D probably damaging Het
Vmn2r88 A T 14: 51,651,611 (GRCm39) E308D probably benign Het
Zfhx4 G A 3: 5,476,903 (GRCm39) E3148K probably damaging 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
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
R6086:Dnm3 UTSW 1 162,148,602 (GRCm39) missense probably damaging 0.99
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
Posted On 2015-04-16