Incidental Mutation 'R9535:Dnm1'
ID |
719637 |
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)
|
Stock # |
R9535 (G1)
|
Quality Score |
141.008 |
Status
|
Not validated
|
Chromosome |
2 |
Chromosomal Location |
32198483-32243350 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 32202344 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Threonine
at position 773
(S773T)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000088618
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000078352]
[ENSMUST00000081670]
[ENSMUST00000091089]
[ENSMUST00000100194]
[ENSMUST00000113350]
[ENSMUST00000113352]
[ENSMUST00000113365]
[ENSMUST00000113377]
[ENSMUST00000129156]
[ENSMUST00000139624]
[ENSMUST00000201433]
[ENSMUST00000201440]
[ENSMUST00000201494]
[ENSMUST00000202578]
|
AlphaFold |
P39053 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000078352
AA Change: S777T
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000077461 Gene: ENSMUSG00000026825 AA Change: S777T
Domain | Start | End | E-Value | Type |
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
Domain | Start | End | E-Value | Type |
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 benign
Transcript: ENSMUST00000091089
AA Change: S773T
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000088618 Gene: ENSMUSG00000026825 AA Change: S773T
Domain | Start | End | E-Value | Type |
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
Domain | Start | End | E-Value | Type |
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 benign
Transcript: ENSMUST00000113350
AA Change: S777T
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000108977 Gene: ENSMUSG00000026825 AA Change: S777T
Domain | Start | End | E-Value | Type |
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: S777T
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000108979 Gene: ENSMUSG00000026825 AA Change: S777T
Domain | Start | End | E-Value | Type |
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: S777T
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000108992 Gene: ENSMUSG00000026825 AA Change: S777T
Domain | Start | End | E-Value | Type |
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: ENSMUST00000113377
|
SMART Domains |
Protein: ENSMUSP00000109004 Gene: ENSMUSG00000002546
Domain | Start | End | E-Value | Type |
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 |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000129156
AA Change: V237D
PolyPhen 2
Score 0.873 (Sensitivity: 0.83; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000118914 Gene: ENSMUSG00000026825 AA Change: V237D
Domain | Start | End | E-Value | Type |
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: ENSMUST00000139291
AA Change: S74T
PolyPhen 2
Score 0.154 (Sensitivity: 0.92; Specificity: 0.87)
|
SMART Domains |
Protein: ENSMUSP00000115523 Gene: ENSMUSG00000026825 AA Change: S74T
Domain | Start | End | E-Value | Type |
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 |
probably benign
Transcript: ENSMUST00000139624
AA Change: S777T
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000122679 Gene: ENSMUSG00000026825 AA Change: S777T
Domain | Start | End | E-Value | Type |
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: ENSMUST00000155269
AA Change: S84T
PolyPhen 2
Score 0.047 (Sensitivity: 0.94; Specificity: 0.83)
|
SMART Domains |
Protein: ENSMUSP00000116054 Gene: ENSMUSG00000026825 AA Change: S84T
Domain | Start | End | E-Value | Type |
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 benign
Transcript: ENSMUST00000201433
AA Change: S777T
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000144264 Gene: ENSMUSG00000026825 AA Change: S777T
Domain | Start | End | E-Value | Type |
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: ENSMUST00000201440
AA Change: V64D
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000144309 Gene: ENSMUSG00000026825 AA Change: V64D
Domain | Start | End | E-Value | Type |
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 benign
Transcript: ENSMUST00000201494
AA Change: S748T
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000144145 Gene: ENSMUSG00000026825 AA Change: S748T
Domain | Start | End | E-Value | Type |
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: S777T
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000143955 Gene: ENSMUSG00000026825 AA Change: S777T
Domain | Start | End | E-Value | Type |
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: 100.0%
- 10x: 99.8%
- 20x: 99.3%
|
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: 37 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930583I09Rik |
T |
A |
17: 65,141,326 (GRCm39) |
R65S |
unknown |
Het |
Abcc6 |
A |
G |
7: 45,626,687 (GRCm39) |
S1457P |
probably damaging |
Het |
Alad |
T |
C |
4: 62,428,777 (GRCm39) |
D259G |
probably damaging |
Het |
Atmin |
A |
G |
8: 117,683,327 (GRCm39) |
D329G |
probably damaging |
Het |
Ccdc121 |
A |
G |
5: 31,644,954 (GRCm39) |
I236V |
probably benign |
Het |
Cdkal1 |
A |
G |
13: 30,034,007 (GRCm39) |
F29L |
probably benign |
Het |
Chrng |
C |
T |
1: 87,139,202 (GRCm39) |
P518S |
probably benign |
Het |
Cpa1 |
G |
T |
6: 30,641,847 (GRCm39) |
D224Y |
probably damaging |
Het |
D6Ertd527e |
G |
C |
6: 87,088,839 (GRCm39) |
S334T |
unknown |
Het |
Dennd5b |
T |
C |
6: 148,895,365 (GRCm39) |
I1222V |
probably benign |
Het |
Glmn |
A |
T |
5: 107,706,368 (GRCm39) |
V419E |
possibly damaging |
Het |
Il18rap |
T |
A |
1: 40,586,990 (GRCm39) |
V424E |
probably benign |
Het |
Kdm6b |
C |
A |
11: 69,297,276 (GRCm39) |
G359* |
probably null |
Het |
Krt84 |
A |
G |
15: 101,438,016 (GRCm39) |
|
probably null |
Het |
Lig4 |
C |
A |
8: 10,022,325 (GRCm39) |
C485F |
probably damaging |
Het |
Mpo |
T |
A |
11: 87,690,794 (GRCm39) |
W411R |
probably damaging |
Het |
Mpv17l |
A |
G |
16: 13,759,149 (GRCm39) |
E8G |
probably benign |
Het |
Mrps34 |
T |
C |
17: 25,114,451 (GRCm39) |
Y104H |
probably benign |
Het |
Muc15 |
T |
A |
2: 110,562,007 (GRCm39) |
W148R |
probably damaging |
Het |
Nrg1 |
T |
C |
8: 32,439,995 (GRCm39) |
D134G |
probably benign |
Het |
Prdm1 |
T |
C |
10: 44,317,608 (GRCm39) |
Y405C |
probably damaging |
Het |
Ptprb |
T |
C |
10: 116,158,431 (GRCm39) |
S501P |
possibly damaging |
Het |
Pwp1 |
C |
A |
10: 85,723,958 (GRCm39) |
S486R |
possibly damaging |
Het |
Rtl1 |
T |
C |
12: 109,557,171 (GRCm39) |
E1556G |
probably damaging |
Het |
Rtl1 |
T |
C |
12: 109,561,698 (GRCm39) |
Q47R |
unknown |
Het |
Siglece |
A |
G |
7: 43,307,055 (GRCm39) |
F311L |
probably benign |
Het |
Slc27a3 |
A |
G |
3: 90,293,618 (GRCm39) |
L589P |
probably damaging |
Het |
Spata31e2 |
A |
C |
1: 26,721,232 (GRCm39) |
L1316* |
probably null |
Het |
Synrg |
T |
A |
11: 83,881,660 (GRCm39) |
M332K |
probably benign |
Het |
Tasor2 |
T |
A |
13: 3,623,559 (GRCm39) |
R2130S |
possibly damaging |
Het |
Tecta |
T |
A |
9: 42,270,759 (GRCm39) |
N1183I |
probably damaging |
Het |
Tmed11 |
A |
G |
5: 108,926,915 (GRCm39) |
I119T |
possibly damaging |
Het |
Ttll3 |
C |
T |
6: 113,389,834 (GRCm39) |
R740W |
probably damaging |
Het |
Usp40 |
T |
C |
1: 87,935,161 (GRCm39) |
|
probably benign |
Het |
Vmn1r236 |
C |
T |
17: 21,507,418 (GRCm39) |
H179Y |
probably benign |
Het |
Wwtr1 |
T |
C |
3: 57,384,825 (GRCm39) |
M298V |
possibly damaging |
Het |
Xrcc4 |
T |
A |
13: 90,089,118 (GRCm39) |
M280L |
probably benign |
Het |
|
Other mutations in Dnm1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH 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 |
R9510:Dnm1
|
UTSW |
2 |
32,213,739 (GRCm39) |
missense |
probably benign |
0.03 |
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'- TTAAGCCCCTACTCACCTGG -3'
(R):5'- AGTATTATCGGCGACATCAACAC -3'
Sequencing Primer
(F):5'- TACTCACCTGGGGACCCCAGG -3'
(R):5'- GCAGGTGCAGAGCGTAC -3'
|
Posted On |
2022-07-18 |