Incidental Mutation 'R6790:Dnm1'
| ID |
532533 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Dnm1
|
| Ensembl Gene |
ENSMUSG00000026825 |
| Gene Name |
dynamin 1 |
| Synonyms |
dynamin 1, Ftfl |
| MMRRC Submission |
044903-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R6790 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
32198483-32243350 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 32223079 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Arginine
at position 445
(K445R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000143955
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000078352]
[ENSMUST00000091089]
[ENSMUST00000113350]
[ENSMUST00000113352]
[ENSMUST00000113365]
[ENSMUST00000139624]
[ENSMUST00000201433]
[ENSMUST00000201494]
[ENSMUST00000202578]
|
| AlphaFold |
P39053 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000078352
AA Change: K445R
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000077461
Gene: ENSMUSG00000026825
AA Change: K445R
| 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: ENSMUST00000091089
|
| SMART Domains |
Protein: ENSMUSP00000088618
Gene: ENSMUSG00000026825
| 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: ENSMUST00000113350
|
| SMART Domains |
Protein: ENSMUSP00000108977
Gene: ENSMUSG00000026825
| 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
|
| SMART Domains |
Protein: ENSMUSP00000108979
Gene: ENSMUSG00000026825
| 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
|
| SMART Domains |
Protein: ENSMUSP00000108992
Gene: ENSMUSG00000026825
| 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: ENSMUST00000139624
|
| SMART Domains |
Protein: ENSMUSP00000122679
Gene: ENSMUSG00000026825
| 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: K445R
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000144264
Gene: ENSMUSG00000026825
AA Change: K445R
| 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: ENSMUST00000201494
|
| SMART Domains |
Protein: ENSMUSP00000144145
Gene: ENSMUSG00000026825
| 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: K445R
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000143955
Gene: ENSMUSG00000026825
AA Change: K445R
| 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: 99.9%
- 3x: 99.7%
- 10x: 98.5%
- 20x: 95.9%
|
| Validation Efficiency |
100% (32/32) |
| 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: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acap3 |
T |
A |
4: 155,987,448 (GRCm39) |
S457T |
probably damaging |
Het |
| Adgrf3 |
A |
G |
5: 30,401,385 (GRCm39) |
V881A |
probably benign |
Het |
| Ankrd65 |
T |
G |
4: 155,877,260 (GRCm39) |
|
probably null |
Het |
| Ascc3 |
A |
G |
10: 50,521,808 (GRCm39) |
E441G |
probably damaging |
Het |
| Atf5 |
A |
T |
7: 44,462,679 (GRCm39) |
|
probably null |
Het |
| Cfap97 |
G |
T |
8: 46,623,113 (GRCm39) |
V168L |
possibly damaging |
Het |
| Crh |
T |
G |
3: 19,748,459 (GRCm39) |
E61A |
probably damaging |
Het |
| Cx3cr1 |
C |
T |
9: 119,880,833 (GRCm39) |
V190M |
probably damaging |
Het |
| Cyp3a59 |
A |
C |
5: 146,033,143 (GRCm39) |
M172L |
probably benign |
Het |
| Eng |
C |
A |
2: 32,559,457 (GRCm39) |
T82N |
probably damaging |
Het |
| Fkbp15 |
T |
C |
4: 62,222,996 (GRCm39) |
T968A |
probably benign |
Het |
| Fsip2 |
A |
G |
2: 82,821,283 (GRCm39) |
N5672S |
possibly damaging |
Het |
| Gm21149 |
A |
C |
5: 15,677,103 (GRCm39) |
D250E |
unknown |
Het |
| Gon4l |
A |
G |
3: 88,766,305 (GRCm39) |
E448G |
probably damaging |
Het |
| Hrnr |
T |
C |
3: 93,236,382 (GRCm39) |
S2207P |
unknown |
Het |
| Itga4 |
C |
A |
2: 79,155,958 (GRCm39) |
H975N |
probably benign |
Het |
| Kdm4c |
A |
G |
4: 74,309,698 (GRCm39) |
K954E |
probably damaging |
Het |
| Lrrc20 |
G |
T |
10: 61,362,898 (GRCm39) |
V48F |
probably damaging |
Het |
| Mga |
A |
G |
2: 119,754,235 (GRCm39) |
I915V |
probably damaging |
Het |
| Npc1l1 |
C |
T |
11: 6,164,260 (GRCm39) |
|
probably null |
Het |
| Nup50l |
T |
C |
6: 96,142,304 (GRCm39) |
T247A |
probably benign |
Het |
| Or3a1b |
T |
A |
11: 74,012,427 (GRCm39) |
L104H |
probably damaging |
Het |
| Pate13 |
G |
T |
9: 35,820,127 (GRCm39) |
|
probably benign |
Het |
| Per2 |
C |
T |
1: 91,373,261 (GRCm39) |
V176I |
probably benign |
Het |
| Pira2 |
A |
C |
7: 3,845,442 (GRCm39) |
V314G |
probably damaging |
Het |
| Potefam3e |
A |
T |
8: 19,779,801 (GRCm39) |
I14F |
probably benign |
Het |
| Rims1 |
T |
C |
1: 22,507,278 (GRCm39) |
D624G |
probably damaging |
Het |
| Secisbp2 |
A |
G |
13: 51,824,939 (GRCm39) |
T396A |
probably benign |
Het |
| Slc28a3 |
T |
C |
13: 58,730,464 (GRCm39) |
D84G |
probably benign |
Het |
| Slc8a3 |
T |
C |
12: 81,361,206 (GRCm39) |
T538A |
probably benign |
Het |
| Slk |
T |
A |
19: 47,624,007 (GRCm39) |
C991S |
probably damaging |
Het |
| Stmn1 |
T |
C |
4: 134,198,125 (GRCm39) |
L54S |
probably damaging |
Het |
| Tuft1 |
C |
G |
3: 94,535,537 (GRCm39) |
E128D |
possibly damaging |
Het |
| Ugt8a |
T |
C |
3: 125,665,340 (GRCm39) |
T386A |
possibly damaging |
Het |
| Zdhhc20 |
A |
G |
14: 58,127,600 (GRCm39) |
V13A |
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 |
|
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'- GCAGTCCCAGGGTTATAAGATG -3'
(R):5'- CTTTGGCCATAACCCCAGAG -3'
Sequencing Primer
(F):5'- CCCAGGGTTATAAGATGGTGGG -3'
(R):5'- GTCCCATGCTCACGGTGTC -3'
|
| Posted On |
2018-08-29 |
Incidental Mutation