Incidental Mutation 'IGL02338:Dnm1'
ID 288955
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Dnm1
Ensembl Gene ENSMUSG00000026825
Gene Name dynamin 1
Synonyms dynamin 1, Ftfl
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL02338
Quality Score
Status
Chromosome 2
Chromosomal Location 32198483-32243350 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 32202783 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 715 (D715G)
Ref Sequence ENSEMBL: ENSMUSP00000144145 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000078352] [ENSMUST00000081670] [ENSMUST00000091089] [ENSMUST00000100194] [ENSMUST00000113350] [ENSMUST00000113352] [ENSMUST00000113365] [ENSMUST00000201440] [ENSMUST00000129156] [ENSMUST00000201433] [ENSMUST00000202578] [ENSMUST00000201494] [ENSMUST00000139624] [ENSMUST00000113377]
AlphaFold P39053
Predicted Effect probably damaging
Transcript: ENSMUST00000078352
AA Change: D744G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000077461
Gene: ENSMUSG00000026825
AA Change: D744G

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: ENSMUST00000081670
SMART Domains Protein: ENSMUSP00000080374
Gene: ENSMUSG00000002546

DomainStartEndE-ValueType
low complexity region 33 39 N/A INTRINSIC
coiled coil region 105 173 N/A INTRINSIC
low complexity region 189 202 N/A INTRINSIC
low complexity region 301 313 N/A INTRINSIC
Pfam:GOLGA2L5 337 955 N/A PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000091089
AA Change: D740G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000088618
Gene: ENSMUSG00000026825
AA Change: D740G

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: ENSMUST00000100194
SMART Domains Protein: ENSMUSP00000097768
Gene: ENSMUSG00000002546

DomainStartEndE-ValueType
low complexity region 3 11 N/A INTRINSIC
low complexity region 45 51 N/A INTRINSIC
low complexity region 98 113 N/A INTRINSIC
coiled coil region 176 244 N/A INTRINSIC
low complexity region 260 273 N/A INTRINSIC
low complexity region 372 384 N/A INTRINSIC
Pfam:GOLGA2L5 408 1026 2.1e-299 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000113350
AA Change: D744G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000108977
Gene: ENSMUSG00000026825
AA Change: D744G

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: D744G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000108979
Gene: ENSMUSG00000026825
AA Change: D744G

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: D744G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000108992
Gene: ENSMUSG00000026825
AA Change: D744G

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 possibly damaging
Transcript: ENSMUST00000139291
AA Change: D41G

PolyPhen 2 Score 0.757 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000115523
Gene: ENSMUSG00000026825
AA Change: D41G

DomainStartEndE-ValueType
Pfam:GED 1 43 3.3e-7 PFAM
low complexity region 45 59 N/A INTRINSIC
low complexity region 81 114 N/A INTRINSIC
low complexity region 117 128 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000155269
AA Change: D51G

PolyPhen 2 Score 0.800 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000116054
Gene: ENSMUSG00000026825
AA Change: D51G

DomainStartEndE-ValueType
GED 1 53 1.63e-1 SMART
low complexity region 55 69 N/A INTRINSIC
low complexity region 91 124 N/A INTRINSIC
low complexity region 127 138 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000201440
AA Change: D40G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000144309
Gene: ENSMUSG00000026825
AA Change: D40G

DomainStartEndE-ValueType
Pfam:GED 1 41 5.9e-7 PFAM
low complexity region 43 57 N/A INTRINSIC
low complexity region 66 85 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000129156
AA Change: D213G

PolyPhen 2 Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000118914
Gene: ENSMUSG00000026825
AA Change: D213G

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 damaging
Transcript: ENSMUST00000201433
AA Change: D744G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000144264
Gene: ENSMUSG00000026825
AA Change: D744G

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: ENSMUST00000202578
AA Change: D744G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000143955
Gene: ENSMUSG00000026825
AA Change: D744G

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: ENSMUST00000201494
AA Change: D715G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000144145
Gene: ENSMUSG00000026825
AA Change: D715G

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 damaging
Transcript: ENSMUST00000139624
AA Change: D744G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000122679
Gene: ENSMUSG00000026825
AA Change: D744G

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 noncoding transcript
Transcript: ENSMUST00000156866
Predicted Effect noncoding transcript
Transcript: ENSMUST00000126276
Predicted Effect noncoding transcript
Transcript: ENSMUST00000145885
Predicted Effect noncoding transcript
Transcript: ENSMUST00000141633
Predicted Effect probably benign
Transcript: ENSMUST00000113377
SMART Domains Protein: ENSMUSP00000109004
Gene: ENSMUSG00000002546

DomainStartEndE-ValueType
low complexity region 3 11 N/A INTRINSIC
low complexity region 45 51 N/A INTRINSIC
low complexity region 71 86 N/A INTRINSIC
coiled coil region 149 217 N/A INTRINSIC
low complexity region 233 246 N/A INTRINSIC
low complexity region 345 357 N/A INTRINSIC
Pfam:GOLGA2L5 381 999 N/A PFAM
Coding Region Coverage
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: 63 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ahdc1 G A 4: 132,789,860 (GRCm39) C367Y possibly damaging Het
AI182371 T A 2: 34,975,728 (GRCm39) I279L probably benign Het
Ambp A T 4: 63,061,934 (GRCm39) C332S probably damaging Het
App T C 16: 84,970,407 (GRCm39) T14A probably benign Het
Asap1 A T 15: 63,995,519 (GRCm39) probably null Het
Aurka T C 2: 172,201,778 (GRCm39) R242G probably benign Het
BC034090 G A 1: 155,093,217 (GRCm39) P747L probably damaging Het
Bcl6b T C 11: 70,119,918 (GRCm39) D23G probably damaging Het
Cabp2 A C 19: 4,134,154 (GRCm39) E42A possibly damaging Het
Ccdc14 G A 16: 34,542,173 (GRCm39) S557N probably benign Het
Ccdc146 G T 5: 21,524,604 (GRCm39) probably benign Het
Cenpf T A 1: 189,412,615 (GRCm39) Q216L probably damaging Het
Ces1b G A 8: 93,783,675 (GRCm39) P515L possibly damaging Het
Col6a5 A T 9: 105,755,829 (GRCm39) N2198K probably damaging Het
Csmd2 A G 4: 128,288,859 (GRCm39) S1133G possibly damaging Het
Cspg5 G A 9: 110,085,335 (GRCm39) R502H probably benign Het
Cyp2g1 A G 7: 26,514,229 (GRCm39) probably benign Het
Dnajc27 A G 12: 4,146,229 (GRCm39) Y86C probably damaging Het
Dock1 G T 7: 134,734,804 (GRCm39) L1317F possibly damaging Het
Fanci T A 7: 79,083,279 (GRCm39) Y727* probably null Het
Fbxw20 T A 9: 109,055,046 (GRCm39) T168S probably benign Het
Folh1 A T 7: 86,385,723 (GRCm39) probably benign Het
Gas7 A T 11: 67,573,557 (GRCm39) S379C probably damaging Het
Gbp2b A G 3: 142,309,987 (GRCm39) E259G probably benign Het
Gm8325 T C 3: 60,784,805 (GRCm39) noncoding transcript Het
Gpr75 A T 11: 30,841,730 (GRCm39) T212S probably benign Het
Itgb4 A G 11: 115,898,795 (GRCm39) T1711A probably damaging Het
Ly75 T C 2: 60,184,796 (GRCm39) S453G probably benign Het
Maneal A G 4: 124,754,276 (GRCm39) probably benign Het
Marco A T 1: 120,422,508 (GRCm39) I58N possibly damaging Het
Mtcl1 A G 17: 66,686,965 (GRCm39) I647T probably damaging Het
Mtfr1l A T 4: 134,258,054 (GRCm39) V56D probably damaging Het
Npy1r G A 8: 67,156,954 (GRCm39) V125I probably damaging Het
Or1j19 C T 2: 36,676,557 (GRCm39) Q7* probably null Het
Or52n20 T C 7: 104,320,888 (GRCm39) probably benign Het
Or7g25 A G 9: 19,159,960 (GRCm39) L245P probably damaging Het
Osmr A T 15: 6,867,210 (GRCm39) L362* probably null Het
Pdlim2 T C 14: 70,411,906 (GRCm39) D42G probably damaging Het
Plcb4 T A 2: 135,842,100 (GRCm39) I89N possibly damaging Het
Prrc2b T A 2: 32,104,047 (GRCm39) M1175K probably benign Het
Pzp T A 6: 128,463,133 (GRCm39) N1423I probably benign Het
Retnla G A 16: 48,664,561 (GRCm39) C105Y probably damaging Het
Samd8 T A 14: 21,825,544 (GRCm39) S167T possibly damaging Het
Scg2 A G 1: 79,414,210 (GRCm39) M171T possibly damaging Het
Slc30a5 A G 13: 100,939,941 (GRCm39) V658A probably damaging Het
Slc41a2 T C 10: 83,152,455 (GRCm39) R7G possibly damaging Het
Slc44a2 A G 9: 21,258,338 (GRCm39) T500A probably damaging Het
Slc44a4 G T 17: 35,142,786 (GRCm39) G396V possibly damaging Het
Smarca5 A G 8: 81,446,199 (GRCm39) probably benign Het
St8sia6 T A 2: 13,798,156 (GRCm39) R34W probably damaging Het
Stk-ps2 T A 1: 46,069,337 (GRCm39) noncoding transcript Het
Stn1 T C 19: 47,502,329 (GRCm39) Y235C probably damaging Het
Tbx15 A G 3: 99,259,800 (GRCm39) Y557C probably damaging Het
Tgfbr1 G A 4: 47,393,490 (GRCm39) probably null Het
Thsd7b G T 1: 129,523,508 (GRCm39) V181L probably damaging Het
Tmpo G A 10: 90,999,104 (GRCm39) R228C probably benign Het
Trpm4 T G 7: 44,976,422 (GRCm39) R51S probably damaging Het
Vmn1r91 A T 7: 19,835,671 (GRCm39) T197S probably damaging Het
Vmn2r-ps158 T C 7: 42,697,160 (GRCm39) I739T probably damaging Het
Xrn1 A G 9: 95,859,880 (GRCm39) D424G probably benign Het
Yap1 A G 9: 7,962,282 (GRCm39) probably null Het
Zer1 T C 2: 30,003,405 (GRCm39) D4G probably damaging Het
Zfp462 A T 4: 55,010,292 (GRCm39) I753F possibly damaging Het
Other mutations in Dnm1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02219:Dnm1 APN 2 32,213,462 (GRCm39) missense probably benign 0.18
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
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
Posted On 2015-04-16