Incidental Mutation 'R7809:Dnm1'
ID 600991
Institutional Source Beutler Lab
Gene Symbol Dnm1
Ensembl Gene ENSMUSG00000026825
Gene Name dynamin 1
Synonyms dynamin 1, Ftfl
MMRRC Submission 045864-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R7809 (G1)
Quality Score 210.009
Status Not validated
Chromosome 2
Chromosomal Location 32198483-32243350 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 32243091 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Arginine at position 44 (K44R)
Ref Sequence ENSEMBL: ENSMUSP00000088618 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000078352] [ENSMUST00000091089] [ENSMUST00000113334] [ENSMUST00000113350] [ENSMUST00000113352] [ENSMUST00000113365] [ENSMUST00000139238] [ENSMUST00000139624] [ENSMUST00000201433] [ENSMUST00000201494] [ENSMUST00000202578]
AlphaFold P39053
Predicted Effect possibly damaging
Transcript: ENSMUST00000078352
AA Change: K44R

PolyPhen 2 Score 0.498 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000077461
Gene: ENSMUSG00000026825
AA Change: K44R

DomainStartEndE-ValueType
DYNc 6 245 1.38e-177 SMART
PH 520 627 2.7e-10 SMART
GED 654 745 9.51e-32 SMART
low complexity region 747 761 N/A INTRINSIC
low complexity region 783 816 N/A INTRINSIC
low complexity region 819 830 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000091089
AA Change: K44R

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000088618
Gene: ENSMUSG00000026825
AA Change: K44R

DomainStartEndE-ValueType
DYNc 6 245 1.38e-177 SMART
PH 516 623 2.7e-10 SMART
GED 650 741 9.51e-32 SMART
low complexity region 743 757 N/A INTRINSIC
low complexity region 779 812 N/A INTRINSIC
low complexity region 815 826 N/A INTRINSIC
low complexity region 845 860 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000113334
SMART Domains Protein: ENSMUSP00000108960
Gene: ENSMUSG00000039205

DomainStartEndE-ValueType
coiled coil region 5 45 N/A INTRINSIC
low complexity region 58 80 N/A INTRINSIC
low complexity region 85 99 N/A INTRINSIC
low complexity region 128 140 N/A INTRINSIC
low complexity region 245 256 N/A INTRINSIC
low complexity region 361 390 N/A INTRINSIC
ZnF_U1 534 568 1.23e-1 SMART
ZnF_C2H2 537 561 1.99e0 SMART
ZnF_U1 626 660 2.08e-1 SMART
ZnF_C2H2 629 653 3.02e0 SMART
low complexity region 689 709 N/A INTRINSIC
ZnF_U1 744 779 1.43e-4 SMART
ZnF_C2H2 747 772 9.56e1 SMART
low complexity region 823 845 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000113350
AA Change: K44R

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000108977
Gene: ENSMUSG00000026825
AA Change: K44R

DomainStartEndE-ValueType
DYNc 6 245 1.38e-177 SMART
PH 520 627 2.7e-10 SMART
GED 654 745 9.51e-32 SMART
low complexity region 747 761 N/A INTRINSIC
low complexity region 783 816 N/A INTRINSIC
low complexity region 819 830 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000113352
AA Change: K44R

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000108979
Gene: ENSMUSG00000026825
AA Change: K44R

DomainStartEndE-ValueType
DYNc 6 245 1.38e-177 SMART
PH 520 627 2.7e-10 SMART
GED 654 745 9.51e-32 SMART
low complexity region 747 761 N/A INTRINSIC
low complexity region 783 816 N/A INTRINSIC
low complexity region 819 830 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000113365
AA Change: K44R

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000108992
Gene: ENSMUSG00000026825
AA Change: K44R

DomainStartEndE-ValueType
DYNc 6 245 1.38e-177 SMART
PH 520 627 2.7e-10 SMART
GED 654 745 9.51e-32 SMART
low complexity region 747 761 N/A INTRINSIC
low complexity region 783 816 N/A INTRINSIC
low complexity region 819 830 N/A INTRINSIC
low complexity region 851 861 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000139238
AA Change: K44R

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000118855
Gene: ENSMUSG00000026825
AA Change: K44R

DomainStartEndE-ValueType
Pfam:Dynamin_N 34 57 2.3e-8 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000139624
AA Change: K44R

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000122679
Gene: ENSMUSG00000026825
AA Change: K44R

DomainStartEndE-ValueType
DYNc 6 245 1.38e-177 SMART
PH 520 627 2.7e-10 SMART
GED 654 745 9.51e-32 SMART
low complexity region 747 761 N/A INTRINSIC
low complexity region 783 816 N/A INTRINSIC
low complexity region 819 830 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000201433
AA Change: K44R

PolyPhen 2 Score 0.818 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000144264
Gene: ENSMUSG00000026825
AA Change: K44R

DomainStartEndE-ValueType
DYNc 6 245 1.38e-177 SMART
PH 520 627 2.7e-10 SMART
GED 654 745 9.51e-32 SMART
low complexity region 747 761 N/A INTRINSIC
low complexity region 783 816 N/A INTRINSIC
low complexity region 819 830 N/A INTRINSIC
low complexity region 851 861 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000201494
AA Change: K44R

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000144145
Gene: ENSMUSG00000026825
AA Change: K44R

DomainStartEndE-ValueType
DYNc 6 245 6.9e-180 SMART
Pfam:Dynamin_M 413 473 2.1e-14 PFAM
PH 491 598 1.2e-12 SMART
GED 625 716 6.1e-34 SMART
low complexity region 718 732 N/A INTRINSIC
low complexity region 754 787 N/A INTRINSIC
low complexity region 790 801 N/A INTRINSIC
low complexity region 822 832 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000202578
AA Change: K44R

PolyPhen 2 Score 0.498 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000143955
Gene: ENSMUSG00000026825
AA Change: K44R

DomainStartEndE-ValueType
DYNc 6 245 1.38e-177 SMART
PH 520 627 2.7e-10 SMART
GED 654 745 9.51e-32 SMART
low complexity region 747 761 N/A INTRINSIC
low complexity region 783 816 N/A INTRINSIC
low complexity region 819 830 N/A INTRINSIC
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.8%
Validation Efficiency
MGI Phenotype FUNCTION: This gene encodes a member of the dynamin subfamily of GTP-binding proteins. The encoded protein is a GTPase which is required for membrane recycling, including vesicle endocytosis in neurons. It may also be involved in cellular fission via association with microtubules and actin filaments. Mutations in this gene have been shown to cause seizures. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2014]
PHENOTYPE: Homozygous mice display reduced postnatal viability. Null mutation of this gene results in abnormal synaptic vesicle morphology, and recycling during neuronal activity. Other alleles are associated with seizures. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 64 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acot13 G A 13: 25,004,779 (GRCm39) T62I probably damaging Het
Adam33 C G 2: 130,893,266 (GRCm39) R779P probably benign Het
Adgrv1 G A 13: 81,676,760 (GRCm39) P2024S possibly damaging Het
Afm A G 5: 90,672,675 (GRCm39) N170S probably damaging Het
Ambn G A 5: 88,615,683 (GRCm39) V371I probably benign Het
Apbb1 G A 7: 105,223,014 (GRCm39) P199L probably benign Het
Axdnd1 A T 1: 156,220,371 (GRCm39) C118* probably null Het
Carf G T 1: 60,183,226 (GRCm39) V443L probably damaging Het
Cfap251 A G 5: 123,402,894 (GRCm39) D459G probably damaging Het
Ckap5 G A 2: 91,436,702 (GRCm39) A1601T probably benign Het
Cnot1 A T 8: 96,478,406 (GRCm39) I973N probably damaging Het
Col11a1 A G 3: 113,890,835 (GRCm39) T391A unknown Het
Cracr2a A T 6: 127,626,925 (GRCm39) M569L probably benign Het
Cspg4 T C 9: 56,797,474 (GRCm39) F1313L probably damaging Het
Cstdc2 A G 2: 148,688,910 (GRCm39) S110P probably damaging Het
Cttnbp2 C A 6: 18,434,289 (GRCm39) R523L probably damaging Het
Cxadr T C 16: 78,130,407 (GRCm39) probably null Het
Dnah17 A T 11: 117,995,462 (GRCm39) M962K probably benign Het
Fat3 T C 9: 15,917,924 (GRCm39) S1500G probably damaging Het
Gad1 T C 2: 70,427,603 (GRCm39) F503S possibly damaging Het
Garin3 A G 11: 46,298,631 (GRCm39) E645G Het
Gm20730 T C 6: 43,058,989 (GRCm39) I15V probably benign Het
Gmppb T G 9: 107,928,654 (GRCm39) *361G probably null Het
Inpp5f T C 7: 128,269,367 (GRCm39) V239A probably damaging Het
Irf4 A T 13: 30,941,415 (GRCm39) Y257F probably benign Het
Kcnma1 T C 14: 23,423,324 (GRCm39) D793G probably benign Het
Kif11 T C 19: 37,373,057 (GRCm39) V92A probably damaging Het
Lrriq1 T C 10: 103,051,678 (GRCm39) K358R probably damaging Het
Mcpt4 T A 14: 56,298,141 (GRCm39) I137F possibly damaging Het
Muc6 T A 7: 141,226,638 (GRCm39) H1358L probably benign Het
Mug1 A T 6: 121,855,944 (GRCm39) M979L possibly damaging Het
Mvb12a C A 8: 71,998,306 (GRCm39) P175T probably benign Het
Myh13 A G 11: 67,241,167 (GRCm39) E848G probably benign Het
Or4c105 A T 2: 88,647,902 (GRCm39) H129L probably damaging Het
Oxnad1 T C 14: 31,822,962 (GRCm39) V231A probably benign Het
Pcdhac1 A G 18: 37,224,009 (GRCm39) N274S possibly damaging Het
Plxnc1 T A 10: 94,630,302 (GRCm39) K1532N probably damaging Het
Polr3e A G 7: 120,523,449 (GRCm39) D14G probably damaging Het
Prex1 A G 2: 166,415,164 (GRCm39) F1432S possibly damaging Het
Prlhr A G 19: 60,456,293 (GRCm39) L91P probably damaging Het
Prom1 C T 5: 44,178,209 (GRCm39) V508I probably benign Het
Rmnd1 T C 10: 4,357,848 (GRCm39) Y387C probably damaging Het
Sall3 T A 18: 81,017,575 (GRCm39) T118S probably benign Het
Sf3b1 A T 1: 55,034,614 (GRCm39) D1015E possibly damaging Het
Sfmbt2 A G 2: 10,398,155 (GRCm39) N12S probably benign Het
Sohlh1 A C 2: 25,735,289 (GRCm39) S198A probably benign Het
Sorbs2 T C 8: 46,198,465 (GRCm39) S38P possibly damaging Het
Spata21 G A 4: 140,831,354 (GRCm39) A434T probably null Het
Stard13 T A 5: 151,113,489 (GRCm39) Q24L probably damaging Het
Syne2 G T 12: 76,014,230 (GRCm39) M3140I probably benign Het
Tango6 T C 8: 107,415,926 (GRCm39) probably null Het
Tdrd9 G A 12: 111,999,155 (GRCm39) G757R probably damaging Het
Thada A C 17: 84,759,265 (GRCm39) V198G possibly damaging Het
Tmf1 T C 6: 97,138,420 (GRCm39) N833D probably damaging Het
Trav7-3 T C 14: 53,681,072 (GRCm39) M38T probably benign Het
Ttc38 A C 15: 85,722,939 (GRCm39) Q129P possibly damaging Het
Uox A T 3: 146,333,613 (GRCm39) K271* probably null Het
Urgcp A T 11: 5,673,133 (GRCm39) D47E probably benign Het
Usp17lb A G 7: 104,490,420 (GRCm39) I169T probably damaging Het
Wdr75 T C 1: 45,862,596 (GRCm39) I805T probably benign Het
Zfp131 A G 13: 120,250,446 (GRCm39) F59S probably damaging Het
Zfp383 G A 7: 29,609,661 (GRCm39) A21T possibly damaging Het
Zfp810 T C 9: 22,190,278 (GRCm39) Y210C possibly damaging Het
Zfp871 A G 17: 32,993,826 (GRCm39) C450R probably damaging Het
Other mutations in Dnm1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02219:Dnm1 APN 2 32,213,462 (GRCm39) missense probably benign 0.18
IGL02338:Dnm1 APN 2 32,202,783 (GRCm39) missense probably damaging 1.00
IGL02555:Dnm1 APN 2 32,218,050 (GRCm39) missense probably damaging 1.00
IGL02563:Dnm1 APN 2 32,205,931 (GRCm39) splice site probably null
IGL03006:Dnm1 APN 2 32,243,133 (GRCm39) missense possibly damaging 0.84
IGL03013:Dnm1 APN 2 32,226,296 (GRCm39) missense probably benign 0.13
IGL03347:Dnm1 APN 2 32,243,199 (GRCm39) missense probably benign 0.32
R0180:Dnm1 UTSW 2 32,218,005 (GRCm39) missense probably damaging 0.99
R0242:Dnm1 UTSW 2 32,207,001 (GRCm39) missense possibly damaging 0.55
R0242:Dnm1 UTSW 2 32,207,001 (GRCm39) missense possibly damaging 0.55
R0387:Dnm1 UTSW 2 32,210,593 (GRCm39) missense possibly damaging 0.90
R0608:Dnm1 UTSW 2 32,225,836 (GRCm39) missense possibly damaging 0.89
R1230:Dnm1 UTSW 2 32,205,921 (GRCm39) missense probably damaging 1.00
R1474:Dnm1 UTSW 2 32,210,596 (GRCm39) missense probably benign 0.31
R1703:Dnm1 UTSW 2 32,213,463 (GRCm39) missense probably benign 0.01
R1881:Dnm1 UTSW 2 32,213,742 (GRCm39) missense probably damaging 1.00
R2155:Dnm1 UTSW 2 32,204,949 (GRCm39) missense probably damaging 0.96
R4405:Dnm1 UTSW 2 32,225,984 (GRCm39) missense probably damaging 1.00
R4592:Dnm1 UTSW 2 32,226,023 (GRCm39) missense probably damaging 0.99
R5357:Dnm1 UTSW 2 32,226,253 (GRCm39) missense probably null 0.17
R5926:Dnm1 UTSW 2 32,205,816 (GRCm39) missense probably benign 0.00
R6135:Dnm1 UTSW 2 32,223,075 (GRCm39) splice site probably null
R6463:Dnm1 UTSW 2 32,199,603 (GRCm39) utr 3 prime probably benign
R6563:Dnm1 UTSW 2 32,202,738 (GRCm39) missense probably damaging 1.00
R6626:Dnm1 UTSW 2 32,230,892 (GRCm39) missense probably damaging 1.00
R6707:Dnm1 UTSW 2 32,226,253 (GRCm39) missense probably null 0.17
R6790:Dnm1 UTSW 2 32,223,079 (GRCm39) missense probably damaging 1.00
R6803:Dnm1 UTSW 2 32,202,766 (GRCm39) missense probably damaging 1.00
R7156:Dnm1 UTSW 2 32,230,479 (GRCm39) missense probably damaging 1.00
R7313:Dnm1 UTSW 2 32,226,021 (GRCm39) missense probably damaging 1.00
R7919:Dnm1 UTSW 2 32,229,990 (GRCm39) missense probably damaging 1.00
R8481:Dnm1 UTSW 2 32,230,490 (GRCm39) missense probably benign 0.01
R8486:Dnm1 UTSW 2 32,224,739 (GRCm39) missense probably benign 0.14
R8733:Dnm1 UTSW 2 32,206,987 (GRCm39) missense probably benign 0.06
R8960:Dnm1 UTSW 2 32,202,741 (GRCm39) missense probably damaging 1.00
R9476:Dnm1 UTSW 2 32,213,739 (GRCm39) missense probably benign 0.03
R9510:Dnm1 UTSW 2 32,213,739 (GRCm39) missense probably benign 0.03
R9535:Dnm1 UTSW 2 32,202,344 (GRCm39) missense probably benign 0.00
R9566:Dnm1 UTSW 2 32,228,011 (GRCm39) critical splice donor site probably null
R9648:Dnm1 UTSW 2 32,230,455 (GRCm39) missense probably damaging 1.00
R9785:Dnm1 UTSW 2 32,223,089 (GRCm39) missense possibly damaging 0.60
Predicted Primers PCR Primer
(F):5'- CTCTACAGACGATGGGGTGAAC -3'
(R):5'- TAGTGACCAGTCCGCGAATC -3'

Sequencing Primer
(F):5'- ACTCCACTGATATCCGCGG -3'
(R):5'- ACGCAGTCGGGATATTCGG -3'
Posted On 2019-11-26