Incidental Mutation 'R4405:Dnm1'
ID 327588
Institutional Source Beutler Lab
Gene Symbol Dnm1
Ensembl Gene ENSMUSG00000026825
Gene Name dynamin 1
Synonyms dynamin 1, Ftfl
MMRRC Submission 041134-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R4405 (G1)
Quality Score 225
Status Not validated
Chromosome 2
Chromosomal Location 32198483-32243350 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 32225984 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Threonine at position 365 (I365T)
Ref Sequence ENSEMBL: ENSMUSP00000144264 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000078352] [ENSMUST00000091089] [ENSMUST00000113350] [ENSMUST00000113352] [ENSMUST00000113365] [ENSMUST00000139238] [ENSMUST00000202578] [ENSMUST00000139624] [ENSMUST00000201433] [ENSMUST00000201494]
AlphaFold P39053
Predicted Effect probably damaging
Transcript: ENSMUST00000078352
AA Change: I365T

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000077461
Gene: ENSMUSG00000026825
AA Change: I365T

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: I365T

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000088618
Gene: ENSMUSG00000026825
AA Change: I365T

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 damaging
Transcript: ENSMUST00000113350
AA Change: I365T

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000108977
Gene: ENSMUSG00000026825
AA Change: I365T

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: I365T

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000108979
Gene: ENSMUSG00000026825
AA Change: I365T

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: I365T

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000108992
Gene: ENSMUSG00000026825
AA Change: I365T

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 benign
Transcript: ENSMUST00000139238
SMART Domains Protein: ENSMUSP00000118855
Gene: ENSMUSG00000026825

DomainStartEndE-ValueType
Pfam:Dynamin_N 34 57 2.3e-8 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000202578
AA Change: I365T

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000143955
Gene: ENSMUSG00000026825
AA Change: I365T

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: ENSMUST00000139624
AA Change: I365T

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000122679
Gene: ENSMUSG00000026825
AA Change: I365T

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: ENSMUST00000201433
AA Change: I365T

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000144264
Gene: ENSMUSG00000026825
AA Change: I365T

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: I365T

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000144145
Gene: ENSMUSG00000026825
AA Change: I365T

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
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 95.1%
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: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrg3 C T 8: 95,763,536 (GRCm39) A279V probably benign Het
Aggf1 G A 13: 95,508,102 (GRCm39) P88L probably benign Het
Asb18 T C 1: 89,896,411 (GRCm39) T210A probably benign Het
Cd8b1 C T 6: 71,303,006 (GRCm39) S27L possibly damaging Het
Cfap43 C T 19: 47,728,236 (GRCm39) S1507N possibly damaging Het
Col12a1 A T 9: 79,547,247 (GRCm39) probably null Het
Col19a1 G A 1: 24,573,190 (GRCm39) T194M unknown Het
Cpb1 T A 3: 20,317,733 (GRCm39) T237S probably benign Het
Cubn G A 2: 13,470,841 (GRCm39) T517M probably damaging Het
Dnah6 T C 6: 73,106,274 (GRCm39) N1769S probably benign Het
E2f5 T A 3: 14,668,823 (GRCm39) D238E probably benign Het
Etv6 A G 6: 134,210,497 (GRCm39) E115G probably damaging Het
Fabp3 C T 4: 130,206,180 (GRCm39) T57I probably benign Het
Gapvd1 C T 2: 34,618,747 (GRCm39) V209I probably damaging Het
Gbp8 G A 5: 105,198,928 (GRCm39) probably benign Het
Gprc6a T C 10: 51,504,639 (GRCm39) I68M probably benign Het
Grb14 T C 2: 64,783,966 (GRCm39) N54D probably damaging Het
Gucy2g A T 19: 55,226,269 (GRCm39) F216I probably benign Het
Herc2 T A 7: 55,820,225 (GRCm39) L2849Q probably damaging Het
Hsd17b4 G T 18: 50,261,381 (GRCm39) probably benign Het
Igkv9-129 T A 6: 67,816,784 (GRCm39) M3K probably damaging Het
Iqcd A T 5: 120,740,485 (GRCm39) E272V probably damaging Het
Itih2 A T 2: 10,111,548 (GRCm39) Y463* probably null Het
Kcna10 G A 3: 107,102,781 (GRCm39) E471K possibly damaging Het
Klf3 A T 5: 64,986,347 (GRCm39) E294V possibly damaging Het
Lancl1 A T 1: 67,060,015 (GRCm39) probably null Het
Ldaf1 T G 7: 119,714,714 (GRCm39) F68V probably damaging Het
Lrig3 T C 10: 125,846,877 (GRCm39) F882L probably benign Het
Man2c1 A G 9: 57,046,367 (GRCm39) N474S probably damaging Het
Map4k3 A G 17: 80,922,444 (GRCm39) probably null Het
Mast1 C A 8: 85,647,520 (GRCm39) W572C probably damaging Het
Mbd4 T A 6: 115,826,076 (GRCm39) Q305L possibly damaging Het
Mbl2 T A 19: 30,216,916 (GRCm39) S243T probably benign Het
Mcph1 C T 8: 18,682,557 (GRCm39) P565S probably benign Het
Mfsd1 G C 3: 67,507,943 (GRCm39) V435L probably benign Het
Mycbp2 C T 14: 103,360,881 (GRCm39) G1183D probably damaging Het
Myof A G 19: 37,911,426 (GRCm39) S1502P probably damaging Het
Noa1 A T 5: 77,454,219 (GRCm39) S474T probably benign Het
Nrde2 A G 12: 100,096,843 (GRCm39) Y986H probably benign Het
Oca2 G T 7: 56,064,182 (GRCm39) V726F possibly damaging Het
Or2ag13 T A 7: 106,472,580 (GRCm39) S291C probably damaging Het
Or7a41 A T 10: 78,871,244 (GRCm39) M205L probably benign Het
Pip5k1a A G 3: 94,975,370 (GRCm39) probably null Het
Plekhn1 A T 4: 156,309,730 (GRCm39) probably null Het
Sec61a2 T C 2: 5,887,670 (GRCm39) D104G probably benign Het
Skic3 A T 13: 76,303,784 (GRCm39) Y1234F probably damaging Het
Slc25a36 T C 9: 96,967,171 (GRCm39) T131A probably benign Het
Slc5a11 A T 7: 122,857,700 (GRCm39) D263V probably damaging Het
Sorbs1 T C 19: 40,384,189 (GRCm39) I35V probably benign Het
Speer3 C G 5: 13,846,394 (GRCm39) A238G possibly damaging Het
Tbc1d1 T C 5: 64,331,013 (GRCm39) V64A possibly damaging Het
Ubqlnl C T 7: 103,798,925 (GRCm39) V191M probably benign Het
Vmn1r20 A G 6: 57,409,042 (GRCm39) M123V probably benign Het
Zwint T C 10: 72,492,095 (GRCm39) L59P 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
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
R7809:Dnm1 UTSW 2 32,243,091 (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'- CATAGCTGATCTCCCTTCGCAG -3'
(R):5'- CAAGAACTTCCGACCGGATG -3'

Sequencing Primer
(F):5'- CGCAGTTCCTTCTCATCAAAC -3'
(R):5'- AAGGCCCTGCTGCAGTAAG -3'
Posted On 2015-07-07