Incidental Mutation 'IGL03006:Dnm1'
ID |
407568 |
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)
|
Stock # |
IGL03006
|
Quality Score |
|
Status
|
|
Chromosome |
2 |
Chromosomal Location |
32198483-32243350 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 32243133 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Valine
at position 30
(D30V)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000144145
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000078352]
[ENSMUST00000091089]
[ENSMUST00000113334]
[ENSMUST00000113350]
[ENSMUST00000113352]
[ENSMUST00000113365]
[ENSMUST00000139624]
[ENSMUST00000201433]
[ENSMUST00000202578]
[ENSMUST00000201494]
[ENSMUST00000139238]
|
AlphaFold |
P39053 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000078352
AA Change: D30V
PolyPhen 2
Score 0.707 (Sensitivity: 0.86; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000077461 Gene: ENSMUSG00000026825 AA Change: D30V
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 |
possibly damaging
Transcript: ENSMUST00000091089
AA Change: D30V
PolyPhen 2
Score 0.707 (Sensitivity: 0.86; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000088618 Gene: ENSMUSG00000026825 AA Change: D30V
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: ENSMUST00000113334
|
SMART Domains |
Protein: ENSMUSP00000108960 Gene: ENSMUSG00000039205
Domain | Start | End | E-Value | Type |
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 |
possibly damaging
Transcript: ENSMUST00000113350
AA Change: D30V
PolyPhen 2
Score 0.707 (Sensitivity: 0.86; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000108977 Gene: ENSMUSG00000026825 AA Change: D30V
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 |
possibly damaging
Transcript: ENSMUST00000113352
AA Change: D30V
PolyPhen 2
Score 0.707 (Sensitivity: 0.86; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000108979 Gene: ENSMUSG00000026825 AA Change: D30V
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 |
possibly damaging
Transcript: ENSMUST00000113365
AA Change: D30V
PolyPhen 2
Score 0.707 (Sensitivity: 0.86; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000108992 Gene: ENSMUSG00000026825 AA Change: D30V
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 |
possibly damaging
Transcript: ENSMUST00000139624
AA Change: D30V
PolyPhen 2
Score 0.707 (Sensitivity: 0.86; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000122679 Gene: ENSMUSG00000026825 AA Change: D30V
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 |
possibly damaging
Transcript: ENSMUST00000201433
AA Change: D30V
PolyPhen 2
Score 0.837 (Sensitivity: 0.84; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000144264 Gene: ENSMUSG00000026825 AA Change: D30V
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 |
possibly damaging
Transcript: ENSMUST00000202578
AA Change: D30V
PolyPhen 2
Score 0.707 (Sensitivity: 0.86; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000143955 Gene: ENSMUSG00000026825 AA Change: D30V
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 |
possibly damaging
Transcript: ENSMUST00000201494
AA Change: D30V
PolyPhen 2
Score 0.837 (Sensitivity: 0.84; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000144145 Gene: ENSMUSG00000026825 AA Change: D30V
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: ENSMUST00000139238
AA Change: D30V
PolyPhen 2
Score 0.338 (Sensitivity: 0.90; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000118855 Gene: ENSMUSG00000026825 AA Change: D30V
Domain | Start | End | E-Value | Type |
Pfam:Dynamin_N
|
34 |
57 |
2.3e-8 |
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: 44 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700012B07Rik |
T |
A |
11: 109,718,671 (GRCm39) |
S21C |
probably damaging |
Het |
2210408I21Rik |
T |
C |
13: 77,471,891 (GRCm39) |
|
probably null |
Het |
Abcc3 |
T |
C |
11: 94,259,421 (GRCm39) |
D340G |
probably benign |
Het |
Adamts17 |
G |
T |
7: 66,728,095 (GRCm39) |
R879L |
possibly damaging |
Het |
Adissp |
A |
C |
2: 130,993,634 (GRCm39) |
D22E |
probably damaging |
Het |
Cacna1f |
C |
A |
X: 7,493,142 (GRCm39) |
T1275K |
probably damaging |
Het |
Csmd2 |
T |
A |
4: 128,374,558 (GRCm39) |
|
probably benign |
Het |
Dll1 |
C |
T |
17: 15,593,854 (GRCm39) |
R171Q |
probably benign |
Het |
Fam184a |
G |
A |
10: 53,574,793 (GRCm39) |
S216L |
probably damaging |
Het |
Fbxo33 |
G |
A |
12: 59,251,105 (GRCm39) |
A470V |
probably benign |
Het |
Gm6401 |
C |
T |
14: 41,788,851 (GRCm39) |
E73K |
possibly damaging |
Het |
Ighv7-1 |
A |
T |
12: 113,860,145 (GRCm39) |
S82R |
probably damaging |
Het |
Klk1b4 |
A |
G |
7: 43,861,019 (GRCm39) |
I221V |
probably benign |
Het |
Lama3 |
T |
C |
18: 12,601,425 (GRCm39) |
|
probably benign |
Het |
Lrch1 |
A |
G |
14: 75,051,060 (GRCm39) |
L359P |
probably damaging |
Het |
Mapk8ip3 |
T |
C |
17: 25,120,489 (GRCm39) |
T882A |
probably benign |
Het |
Med12 |
C |
T |
X: 100,321,684 (GRCm39) |
R456W |
probably damaging |
Het |
Mms22l |
T |
C |
4: 24,521,253 (GRCm39) |
S267P |
probably damaging |
Het |
Mtpap |
G |
A |
18: 4,375,721 (GRCm39) |
G34R |
possibly damaging |
Het |
Nf1 |
G |
A |
11: 79,436,257 (GRCm39) |
D1966N |
probably damaging |
Het |
Nlrp9c |
G |
A |
7: 26,071,507 (GRCm39) |
T867I |
probably damaging |
Het |
Nrap |
C |
T |
19: 56,335,596 (GRCm39) |
V941I |
probably benign |
Het |
Or5k1b |
T |
A |
16: 58,581,511 (GRCm39) |
K9N |
probably benign |
Het |
Pcdh10 |
A |
G |
3: 45,333,937 (GRCm39) |
I84V |
probably damaging |
Het |
Polr3d |
T |
A |
14: 70,678,603 (GRCm39) |
|
probably null |
Het |
Prkar2a |
G |
T |
9: 108,617,640 (GRCm39) |
V233L |
probably benign |
Het |
Prl4a1 |
T |
C |
13: 28,207,359 (GRCm39) |
V211A |
probably damaging |
Het |
Qpct |
T |
C |
17: 79,378,151 (GRCm39) |
V107A |
probably benign |
Het |
Rai1 |
T |
C |
11: 60,079,031 (GRCm39) |
S1032P |
possibly damaging |
Het |
Rims1 |
G |
T |
1: 22,367,178 (GRCm39) |
T1113K |
probably damaging |
Het |
Rxra |
C |
T |
2: 27,649,657 (GRCm39) |
T454I |
probably damaging |
Het |
S100z |
T |
C |
13: 95,615,127 (GRCm39) |
I13V |
probably damaging |
Het |
Scp2 |
T |
C |
4: 107,948,477 (GRCm39) |
K167E |
probably benign |
Het |
Sephs2 |
A |
G |
7: 126,872,206 (GRCm39) |
F296L |
probably benign |
Het |
Setd1b |
A |
G |
5: 123,286,514 (GRCm39) |
E520G |
unknown |
Het |
Slc28a2 |
G |
A |
2: 122,283,019 (GRCm39) |
V308M |
possibly damaging |
Het |
Smarcad1 |
T |
A |
6: 65,060,873 (GRCm39) |
I451K |
probably benign |
Het |
Tarbp1 |
C |
T |
8: 127,170,881 (GRCm39) |
D1040N |
probably damaging |
Het |
Tdrd6 |
T |
C |
17: 43,936,323 (GRCm39) |
D1575G |
probably damaging |
Het |
Tll1 |
T |
A |
8: 64,527,251 (GRCm39) |
|
probably benign |
Het |
Tsks |
A |
T |
7: 44,600,198 (GRCm39) |
|
probably benign |
Het |
Ttc1 |
A |
T |
11: 43,636,147 (GRCm39) |
M32K |
probably benign |
Het |
Txlnb |
C |
T |
10: 17,714,723 (GRCm39) |
A385V |
probably damaging |
Het |
Zc4h2 |
T |
C |
X: 94,687,019 (GRCm39) |
H98R |
probably damaging |
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 |
|
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 |
2016-08-02 |