Incidental Mutation 'R9510:Dnm1'
ID 718066
Institutional Source Beutler Lab
Gene Symbol Dnm1
Ensembl Gene ENSMUSG00000026825
Gene Name dynamin 1
Synonyms dynamin 1, Ftfl
MMRRC Submission
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R9510 (G1)
Quality Score 225.009
Status Not validated
Chromosome 2
Chromosomal Location 32198483-32243350 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 32213739 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Valine at position 476 (M476V)
Ref Sequence ENSEMBL: ENSMUSP00000088618 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000078352] [ENSMUST00000091089] [ENSMUST00000113350] [ENSMUST00000113352] [ENSMUST00000113365] [ENSMUST00000129156] [ENSMUST00000139624] [ENSMUST00000201433] [ENSMUST00000201494] [ENSMUST00000202578]
AlphaFold P39053
Predicted Effect probably benign
Transcript: ENSMUST00000078352
AA Change: M476V

PolyPhen 2 Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)
SMART Domains Protein: ENSMUSP00000077461
Gene: ENSMUSG00000026825
AA Change: M476V

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 benign
Transcript: ENSMUST00000091089
AA Change: M476V

PolyPhen 2 Score 0.028 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000088618
Gene: ENSMUSG00000026825
AA Change: M476V

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: ENSMUST00000113350
AA Change: M476V

PolyPhen 2 Score 0.024 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000108977
Gene: ENSMUSG00000026825
AA Change: M476V

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 benign
Transcript: ENSMUST00000113352
AA Change: M476V

PolyPhen 2 Score 0.024 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000108979
Gene: ENSMUSG00000026825
AA Change: M476V

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 benign
Transcript: ENSMUST00000113365
AA Change: M476V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000108992
Gene: ENSMUSG00000026825
AA Change: M476V

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: ENSMUST00000129156
SMART Domains Protein: ENSMUSP00000118914
Gene: ENSMUSG00000026825

DomainStartEndE-ValueType
PH 1 96 2.75e-2 SMART
GED 123 214 9.51e-32 SMART
low complexity region 216 230 N/A INTRINSIC
low complexity region 239 258 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000139624
AA Change: M476V

PolyPhen 2 Score 0.030 (Sensitivity: 0.95; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000122679
Gene: ENSMUSG00000026825
AA Change: M476V

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 benign
Transcript: ENSMUST00000201433
AA Change: M476V

PolyPhen 2 Score 0.185 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000144264
Gene: ENSMUSG00000026825
AA Change: M476V

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: ENSMUST00000201494
AA Change: M447V

PolyPhen 2 Score 0.072 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000144145
Gene: ENSMUSG00000026825
AA Change: M447V

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 probably benign
Transcript: ENSMUST00000202578
AA Change: M476V

PolyPhen 2 Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)
SMART Domains Protein: ENSMUSP00000143955
Gene: ENSMUSG00000026825
AA Change: M476V

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: 98.6%
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: 84 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930578G10Rik T G 4: 42,760,998 (GRCm39) W6G unknown Het
Aatk A T 11: 119,901,094 (GRCm39) C1101S probably benign Het
Ankrd61 T C 5: 143,828,322 (GRCm39) T218A possibly damaging Het
Cacna1b T C 2: 24,540,058 (GRCm39) E1467G probably damaging Het
Ccdc186 T C 19: 56,802,016 (GRCm39) T34A probably benign Het
Cdc42bpb G A 12: 111,261,372 (GRCm39) P1656S probably benign Het
Cdk13 A C 13: 17,902,747 (GRCm39) C934W probably damaging Het
Cebpg T C 7: 34,750,080 (GRCm39) N61S probably benign Het
Cldn13 T A 5: 134,943,843 (GRCm39) E114V probably benign Het
Clec9a T A 6: 129,398,023 (GRCm39) I187K possibly damaging Het
Cr2 G T 1: 194,840,416 (GRCm39) L509M probably damaging Het
Creb3l2 C A 6: 37,311,446 (GRCm39) G448W probably damaging Het
Csf2rb T A 15: 78,229,760 (GRCm39) probably null Het
Cyth1 C T 11: 118,076,206 (GRCm39) probably null Het
Dapk1 A T 13: 60,910,203 (GRCm39) D1441V unknown Het
Dnhd1 A T 7: 105,352,889 (GRCm39) N2681Y possibly damaging Het
Dock1 T G 7: 134,592,279 (GRCm39) I938S probably benign Het
Duox1 G A 2: 122,160,023 (GRCm39) V713I possibly damaging Het
Dusp16 T C 6: 134,695,226 (GRCm39) H535R probably benign Het
Eif3j2 TGCCGCCGCCGCCGCCGCCGCCGCCGCC TGCCGCCGCCGCCGCCGCCGCCGCC 18: 43,610,782 (GRCm39) probably benign Het
Fancd2os T A 6: 113,574,994 (GRCm39) Y4F probably damaging Het
Fat4 A T 3: 39,037,886 (GRCm39) Q3846L probably benign Het
Fbxw10 A C 11: 62,743,814 (GRCm39) H240P probably benign Het
Fer1l5 T C 1: 36,442,662 (GRCm39) L727P probably damaging Het
Fezf1 A C 6: 23,247,845 (GRCm39) F77V probably benign Het
Fli1 T C 9: 32,335,493 (GRCm39) D313G probably damaging Het
Frmd4a A G 2: 4,608,324 (GRCm39) T731A probably benign Het
Gfy T C 7: 44,828,090 (GRCm39) Q2R possibly damaging Het
Ggt5 T C 10: 75,445,139 (GRCm39) V382A probably benign Het
Hira A G 16: 18,772,789 (GRCm39) D867G probably damaging Het
Hmcn1 A G 1: 150,462,127 (GRCm39) S5184P probably benign Het
Ighv1-26 A C 12: 114,752,407 (GRCm39) F7V probably benign Het
Igkv4-81 C T 6: 68,967,796 (GRCm39) E102K possibly damaging Het
Inmt G T 6: 55,147,990 (GRCm39) S213Y possibly damaging Het
Ints2 T A 11: 86,135,335 (GRCm39) M360L probably benign Het
Itih3 A G 14: 30,631,416 (GRCm39) S827P probably benign Het
Kcnk12 C A 17: 88,054,122 (GRCm39) R180L probably benign Het
Klhl2 T C 8: 65,202,113 (GRCm39) N521S probably benign Het
Kmt2a A T 9: 44,734,531 (GRCm39) F2104I unknown Het
Kndc1 G A 7: 139,510,031 (GRCm39) S1291N probably benign Het
Mettl21a T C 1: 64,647,285 (GRCm39) T91A probably damaging Het
Mmrn2 A G 14: 34,120,407 (GRCm39) I426V possibly damaging Het
Mrpl2 T C 17: 46,958,440 (GRCm39) V74A probably benign Het
Msantd4 A G 9: 4,385,007 (GRCm39) D244G probably benign Het
Mtfmt C T 9: 65,343,147 (GRCm39) R18C probably benign Het
Ncam2 A G 16: 81,420,341 (GRCm39) *838W probably null Het
Ncor1 CTG CTGATG 11: 62,324,442 (GRCm39) probably benign Het
Nsf T C 11: 103,763,988 (GRCm39) N365S probably damaging Het
Osbpl3 C T 6: 50,313,194 (GRCm39) probably null Het
Pam C T 1: 97,826,065 (GRCm39) probably null Het
Parn A T 16: 13,358,942 (GRCm39) M600K probably benign Het
Pcdha11 C A 18: 37,139,532 (GRCm39) T387N probably benign Het
Ptprt A C 2: 161,397,381 (GRCm39) C1129G probably damaging Het
Ralgapb T A 2: 158,285,856 (GRCm39) S645T probably damaging Het
Rara C T 11: 98,860,983 (GRCm39) S157L probably benign Het
Rnf40 T A 7: 127,201,808 (GRCm39) I1000N probably damaging Het
Sap25 C T 5: 137,640,494 (GRCm39) T141I probably null Het
Scube2 C T 7: 109,430,969 (GRCm39) G410E probably damaging Het
Sh3gl2 A G 4: 85,304,089 (GRCm39) E264G probably benign Het
Smc4 T G 3: 68,914,662 (GRCm39) S92A probably damaging Het
Sorcs1 C T 19: 50,666,521 (GRCm39) R129Q probably benign Het
Spata31e4 A G 13: 50,856,149 (GRCm39) T596A possibly damaging Het
Spef2 T C 15: 9,713,203 (GRCm39) R390G probably damaging Het
Speg T C 1: 75,377,768 (GRCm39) F842S probably damaging Het
Stk17b G T 1: 53,796,898 (GRCm39) H290N probably damaging Het
Stpg3 A T 2: 25,103,516 (GRCm39) V191D probably benign Het
Supt6 C T 11: 78,120,290 (GRCm39) R350H probably damaging Het
Taf1b G A 12: 24,566,947 (GRCm39) A214T possibly damaging Het
Tet3 T A 6: 83,381,808 (GRCm39) probably null Het
Tet3 T C 6: 83,380,935 (GRCm39) E411G possibly damaging Het
Tg T C 15: 66,545,913 (GRCm39) Y212H probably damaging Het
Tns3 A G 11: 8,395,702 (GRCm39) I1234T probably damaging Het
Traf6 C T 2: 101,521,825 (GRCm39) T220I possibly damaging Het
Tram2 C G 1: 21,074,150 (GRCm39) A263P possibly damaging Het
Treml1 T G 17: 48,673,771 (GRCm39) S261A probably damaging Het
Trim34b A G 7: 103,980,503 (GRCm39) E197G probably damaging Het
Tspan18 C T 2: 93,050,462 (GRCm39) G54S probably damaging Het
Wdtc1 A G 4: 133,049,529 (GRCm39) V29A probably damaging Het
Zdhhc16 T C 19: 41,929,155 (GRCm39) Y253H probably damaging Het
Zfp366 A G 13: 99,365,874 (GRCm39) Y345C probably damaging Het
Zfp423 T A 8: 88,510,041 (GRCm39) D101V possibly damaging Het
Zfp462 G A 4: 55,080,735 (GRCm39) M2450I probably benign Het
Zfp52 C T 17: 21,782,218 (GRCm39) L689F possibly damaging Het
Zim1 G A 7: 6,690,739 (GRCm39) Q29* probably null 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
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
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'- ACTTAGAGGGTTAAGCTGGCAG -3'
(R):5'- AGCTCTTTATGAACAAGGGTGGAC -3'

Sequencing Primer
(F):5'- CTGGCAGAGCTGGAATCTACATAC -3'
(R):5'- CTGGAACTCACTTTGTAGACCAGG -3'
Posted On 2022-07-18