Incidental Mutation 'R1230:Dnm1'
| ID |
152263 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Dnm1
|
| Ensembl Gene |
ENSMUSG00000026825 |
| Gene Name |
dynamin 1 |
| Synonyms |
dynamin 1, Ftfl |
| MMRRC Submission |
039299-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R1230 (G1)
|
| Quality Score |
161 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
32198483-32243350 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 32205921 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Aspartic acid
at position 64
(N64D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000118914
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000078352]
[ENSMUST00000091089]
[ENSMUST00000113350]
[ENSMUST00000113352]
[ENSMUST00000113365]
[ENSMUST00000129156]
[ENSMUST00000139624]
[ENSMUST00000201433]
[ENSMUST00000201494]
[ENSMUST00000202578]
[ENSMUST00000201440]
|
| AlphaFold |
P39053 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000078352
AA Change: N595D
PolyPhen 2
Score 0.959 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000077461
Gene: ENSMUSG00000026825
AA Change: N595D
| 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: N591D
PolyPhen 2
Score 0.775 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000088618
Gene: ENSMUSG00000026825
AA Change: N591D
| 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 damaging
Transcript: ENSMUST00000113350
AA Change: N595D
PolyPhen 2
Score 0.959 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000108977
Gene: ENSMUSG00000026825
AA Change: N595D
| 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 damaging
Transcript: ENSMUST00000113352
AA Change: N595D
PolyPhen 2
Score 0.959 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000108979
Gene: ENSMUSG00000026825
AA Change: N595D
| 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 damaging
Transcript: ENSMUST00000113365
AA Change: N595D
PolyPhen 2
Score 0.959 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000108992
Gene: ENSMUSG00000026825
AA Change: N595D
| 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: ENSMUST00000129156
AA Change: N64D
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000118914
Gene: ENSMUSG00000026825
AA Change: N64D
| 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
|
| SMART Domains |
Protein: ENSMUSP00000115523
Gene: ENSMUSG00000026825
| 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 damaging
Transcript: ENSMUST00000139624
AA Change: N595D
PolyPhen 2
Score 0.959 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000122679
Gene: ENSMUSG00000026825
AA Change: N595D
| 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 damaging
Transcript: ENSMUST00000201433
AA Change: N595D
PolyPhen 2
Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000144264
Gene: ENSMUSG00000026825
AA Change: N595D
| 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: ENSMUST00000201494
AA Change: N566D
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000144145
Gene: ENSMUSG00000026825
AA Change: N566D
| 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 damaging
Transcript: ENSMUST00000202578
AA Change: N595D
PolyPhen 2
Score 0.959 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000143955
Gene: ENSMUSG00000026825
AA Change: N595D
| 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 |
noncoding transcript
Transcript: ENSMUST00000156866
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000175024
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000175066
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000141633
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000155269
|
| SMART Domains |
Protein: ENSMUSP00000116054
Gene: ENSMUSG00000026825
| 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: ENSMUST00000201440
|
| SMART Domains |
Protein: ENSMUSP00000144309
Gene: ENSMUSG00000026825
| 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 |
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.2%
- 10x: 95.7%
- 20x: 90.5%
|
| 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: 19 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ccdc88c |
A |
T |
12: 100,914,747 (GRCm39) |
Y496N |
probably benign |
Het |
| Cyp11b1 |
A |
G |
15: 74,712,791 (GRCm39) |
I90T |
probably benign |
Het |
| Cyp4f14 |
C |
A |
17: 33,135,762 (GRCm39) |
R33L |
probably benign |
Het |
| Dcc |
G |
A |
18: 71,815,384 (GRCm39) |
P330L |
probably damaging |
Het |
| Dync1h1 |
G |
A |
12: 110,602,943 (GRCm39) |
E2195K |
probably benign |
Het |
| Ecm1 |
A |
T |
3: 95,642,738 (GRCm39) |
|
probably null |
Het |
| Enam |
A |
G |
5: 88,641,927 (GRCm39) |
Y247C |
probably damaging |
Het |
| Ess2 |
C |
T |
16: 17,727,814 (GRCm39) |
V122M |
probably benign |
Het |
| Gtf3c3 |
C |
T |
1: 54,456,937 (GRCm39) |
A488T |
probably damaging |
Het |
| Hrc |
A |
G |
7: 44,985,887 (GRCm39) |
D346G |
possibly damaging |
Het |
| Kdm5b |
T |
G |
1: 134,540,992 (GRCm39) |
C695G |
probably damaging |
Het |
| Lrig3 |
A |
G |
10: 125,838,840 (GRCm39) |
D449G |
probably damaging |
Het |
| Mrps31 |
C |
T |
8: 22,909,759 (GRCm39) |
P142S |
possibly damaging |
Het |
| Ppm1k |
T |
C |
6: 57,502,059 (GRCm39) |
T35A |
probably benign |
Het |
| Sned1 |
G |
A |
1: 93,209,376 (GRCm39) |
V830M |
possibly damaging |
Het |
| Vangl1 |
T |
A |
3: 102,065,609 (GRCm39) |
I509L |
probably benign |
Het |
| Vcpip1 |
A |
G |
1: 9,795,449 (GRCm39) |
V974A |
probably damaging |
Het |
| Xdh |
T |
C |
17: 74,198,251 (GRCm39) |
E1212G |
probably damaging |
Het |
| Zfp62 |
T |
C |
11: 49,105,926 (GRCm39) |
S6P |
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 |
|
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- CCCTGAAGCCACCAGTGTATGAAAG -3'
(R):5'- GCTACTTGTTACCCTGAAGCATCCC -3'
Sequencing Primer
(F):5'- CTCTTTGCGAGTCAAATAAGGGC -3'
(R):5'- TGAAGCATCCCAGTGGC -3'
|
| Posted On |
2014-01-29 |
Incidental Mutation