Incidental Mutation 'R2157:Dnm3'
| ID |
234880 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Dnm3
|
| Ensembl Gene |
ENSMUSG00000040265 |
| Gene Name |
dynamin 3 |
| Synonyms |
9630020E24Rik, B230343F03Rik |
| MMRRC Submission |
040160-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R2157 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
161810022-162305603 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 162135462 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Serine
at position 437
(N437S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000083241
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000070330]
[ENSMUST00000086074]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000070330
AA Change: N437S
PolyPhen 2
Score 0.949 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000064538
Gene: ENSMUSG00000040265
AA Change: N437S
| Domain | Start | End | E-Value | Type |
|---|
|
DYNc
|
6 |
245 |
1.48e-182 |
SMART |
|
PH
|
516 |
623 |
1.58e-11 |
SMART |
|
GED
|
644 |
735 |
6.82e-33 |
SMART |
|
low complexity region
|
738 |
751 |
N/A |
INTRINSIC |
|
low complexity region
|
756 |
771 |
N/A |
INTRINSIC |
|
low complexity region
|
799 |
812 |
N/A |
INTRINSIC |
|
low complexity region
|
824 |
852 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000086074
AA Change: N437S
PolyPhen 2
Score 0.949 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000083241
Gene: ENSMUSG00000040265
AA Change: N437S
| Domain | Start | End | E-Value | Type |
|---|
|
DYNc
|
6 |
245 |
1.48e-182 |
SMART |
|
PH
|
516 |
623 |
1.58e-11 |
SMART |
|
GED
|
648 |
739 |
6.82e-33 |
SMART |
|
low complexity region
|
742 |
755 |
N/A |
INTRINSIC |
|
low complexity region
|
760 |
775 |
N/A |
INTRINSIC |
|
low complexity region
|
803 |
816 |
N/A |
INTRINSIC |
|
low complexity region
|
828 |
856 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000160173
|
| Meta Mutation Damage Score |
0.0660 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.7%
|
| Validation Efficiency |
100% (80/80) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of a family of guanosine triphosphate (GTP)-binding proteins that associate with microtubules and are involved in vesicular transport. The encoded protein functions in the development of megakaryocytes. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2013]
PHENOTYPE: Mice homozygous for a targeted allele are viable and fertile. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 83 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2310022B05Rik |
A |
T |
8: 125,378,168 (GRCm39) |
|
probably benign |
Het |
| 4930590J08Rik |
T |
A |
6: 91,919,468 (GRCm39) |
M709K |
possibly damaging |
Het |
| 4930590J08Rik |
A |
G |
6: 91,894,679 (GRCm39) |
|
probably null |
Het |
| A930011G23Rik |
T |
G |
5: 99,379,956 (GRCm39) |
I394L |
probably damaging |
Het |
| Abca13 |
A |
C |
11: 9,527,170 (GRCm39) |
M4528L |
probably damaging |
Het |
| Abcb1b |
G |
A |
5: 8,874,791 (GRCm39) |
A484T |
probably benign |
Het |
| Actn1 |
A |
T |
12: 80,219,891 (GRCm39) |
M660K |
probably benign |
Het |
| Adgra3 |
G |
T |
5: 50,159,283 (GRCm39) |
N322K |
possibly damaging |
Het |
| Ahnak |
A |
G |
19: 8,978,048 (GRCm39) |
I56V |
possibly damaging |
Het |
| Amotl2 |
A |
G |
9: 102,607,788 (GRCm39) |
|
probably benign |
Het |
| Apoa1 |
T |
C |
9: 46,140,471 (GRCm39) |
V34A |
probably damaging |
Het |
| Arrdc1 |
G |
A |
2: 24,816,987 (GRCm39) |
A113V |
probably damaging |
Het |
| As3mt |
A |
G |
19: 46,696,231 (GRCm39) |
D13G |
probably benign |
Het |
| Cald1 |
A |
G |
6: 34,662,976 (GRCm39) |
Q13R |
possibly damaging |
Het |
| Ccdc28a |
G |
A |
10: 18,106,203 (GRCm39) |
T41I |
probably benign |
Het |
| Ccdc30 |
A |
T |
4: 119,190,921 (GRCm39) |
|
probably benign |
Het |
| Cct2 |
T |
C |
10: 116,898,714 (GRCm39) |
|
probably benign |
Het |
| Cdh12 |
T |
C |
15: 21,583,873 (GRCm39) |
I571T |
possibly damaging |
Het |
| Cdh15 |
G |
A |
8: 123,588,763 (GRCm39) |
R279Q |
probably damaging |
Het |
| Ckm |
T |
C |
7: 19,155,279 (GRCm39) |
S372P |
probably benign |
Het |
| Comp |
C |
T |
8: 70,832,220 (GRCm39) |
Q554* |
probably null |
Het |
| Csf2ra |
T |
C |
19: 61,215,509 (GRCm39) |
T70A |
probably benign |
Het |
| Csmd3 |
T |
C |
15: 47,559,183 (GRCm39) |
E2256G |
probably damaging |
Het |
| Dicer1 |
A |
T |
12: 104,669,208 (GRCm39) |
V1158D |
probably benign |
Het |
| Dner |
A |
G |
1: 84,361,659 (GRCm39) |
F650S |
possibly damaging |
Het |
| Dpy19l2 |
T |
C |
9: 24,592,076 (GRCm39) |
I176V |
probably benign |
Het |
| Dpy19l2 |
A |
T |
9: 24,495,928 (GRCm39) |
C597S |
probably benign |
Het |
| Edf1 |
T |
C |
2: 25,448,043 (GRCm39) |
|
probably null |
Het |
| Eif1ad16 |
A |
T |
12: 87,985,481 (GRCm39) |
S21T |
unknown |
Het |
| Enpp3 |
A |
G |
10: 24,652,776 (GRCm39) |
F727S |
probably damaging |
Het |
| Epb42 |
C |
T |
2: 120,852,243 (GRCm39) |
M583I |
probably benign |
Het |
| Foxred1 |
A |
G |
9: 35,116,659 (GRCm39) |
F117S |
probably damaging |
Het |
| Fstl5 |
T |
A |
3: 76,615,372 (GRCm39) |
M811K |
possibly damaging |
Het |
| Gm5117 |
A |
T |
8: 32,228,222 (GRCm39) |
|
noncoding transcript |
Het |
| Gpm6a |
T |
C |
8: 55,511,833 (GRCm39) |
S236P |
probably damaging |
Het |
| Grik1 |
G |
A |
16: 87,853,012 (GRCm39) |
A57V |
probably damaging |
Het |
| Hdgfl2 |
G |
A |
17: 56,405,691 (GRCm39) |
V476I |
possibly damaging |
Het |
| Il17b |
G |
T |
18: 61,823,439 (GRCm39) |
W91L |
probably damaging |
Het |
| Jph4 |
C |
A |
14: 55,350,984 (GRCm39) |
R344L |
probably benign |
Het |
| Map3k21 |
A |
G |
8: 126,664,005 (GRCm39) |
D522G |
probably benign |
Het |
| Mast2 |
A |
G |
4: 116,179,480 (GRCm39) |
L398S |
probably damaging |
Het |
| Mbtd1 |
A |
G |
11: 93,801,214 (GRCm39) |
T132A |
probably benign |
Het |
| Mbtps1 |
G |
T |
8: 120,269,466 (GRCm39) |
T208K |
probably benign |
Het |
| Mr1 |
A |
G |
1: 155,022,376 (GRCm39) |
|
probably null |
Het |
| Mthfsd |
G |
A |
8: 121,828,240 (GRCm39) |
L140F |
probably damaging |
Het |
| Mybpc2 |
C |
G |
7: 44,159,269 (GRCm39) |
D594H |
possibly damaging |
Het |
| Nalcn |
T |
C |
14: 123,647,164 (GRCm39) |
M570V |
probably benign |
Het |
| Ncam2 |
T |
C |
16: 81,287,277 (GRCm39) |
I397T |
probably damaging |
Het |
| Ndufs4 |
C |
T |
13: 114,453,514 (GRCm39) |
V75I |
probably damaging |
Het |
| Nek4 |
T |
A |
14: 30,701,925 (GRCm39) |
|
probably null |
Het |
| Nfatc1 |
G |
T |
18: 80,679,060 (GRCm39) |
A762D |
possibly damaging |
Het |
| Nhsl3 |
C |
T |
4: 129,117,917 (GRCm39) |
R249H |
possibly damaging |
Het |
| Npc1 |
A |
G |
18: 12,324,866 (GRCm39) |
I1209T |
probably damaging |
Het |
| Or10k2 |
T |
C |
8: 84,268,250 (GRCm39) |
I159T |
probably benign |
Het |
| Or4c11 |
A |
T |
2: 88,695,213 (GRCm39) |
N88I |
probably benign |
Het |
| Pak5 |
T |
C |
2: 135,942,877 (GRCm39) |
D421G |
probably damaging |
Het |
| Pias1 |
A |
G |
9: 62,820,112 (GRCm39) |
V285A |
possibly damaging |
Het |
| Pigg |
T |
A |
5: 108,466,755 (GRCm39) |
I212N |
probably damaging |
Het |
| Plcd3 |
A |
T |
11: 102,961,974 (GRCm39) |
C711S |
probably benign |
Het |
| Plscr5 |
G |
A |
9: 92,080,550 (GRCm39) |
R12K |
probably benign |
Het |
| Plxna4 |
T |
C |
6: 32,493,909 (GRCm39) |
I236V |
probably benign |
Het |
| Ppp1r26 |
T |
C |
2: 28,342,370 (GRCm39) |
F667L |
probably benign |
Het |
| Prkx |
A |
G |
X: 76,814,920 (GRCm39) |
F247L |
probably benign |
Het |
| Qpct |
G |
A |
17: 79,378,115 (GRCm39) |
R95Q |
probably benign |
Het |
| Ralgapb |
G |
T |
2: 158,279,392 (GRCm39) |
M159I |
probably benign |
Het |
| Rnf145 |
T |
C |
11: 44,445,997 (GRCm39) |
L277P |
probably damaging |
Het |
| Scn9a |
A |
G |
2: 66,366,669 (GRCm39) |
S705P |
probably damaging |
Het |
| Slc4a8 |
A |
G |
15: 100,704,254 (GRCm39) |
T750A |
probably damaging |
Het |
| Slc66a1 |
A |
T |
4: 139,029,166 (GRCm39) |
V106D |
probably damaging |
Het |
| Syne2 |
A |
G |
12: 76,141,230 (GRCm39) |
E6114G |
probably damaging |
Het |
| Tat |
T |
C |
8: 110,724,236 (GRCm39) |
M375T |
probably damaging |
Het |
| Tex10 |
C |
T |
4: 48,436,522 (GRCm39) |
|
probably benign |
Het |
| Tmprss11e |
T |
C |
5: 86,861,587 (GRCm39) |
K320E |
probably benign |
Het |
| Tnr |
T |
C |
1: 159,685,840 (GRCm39) |
I357T |
probably damaging |
Het |
| Vmn1r229 |
A |
T |
17: 21,035,638 (GRCm39) |
R294S |
possibly damaging |
Het |
| Vmn2r116 |
G |
A |
17: 23,620,443 (GRCm39) |
D726N |
probably damaging |
Het |
| Vpreb1b |
T |
A |
16: 17,798,934 (GRCm39) |
L140* |
probably null |
Het |
| Wfs1 |
G |
A |
5: 37,125,286 (GRCm39) |
P535L |
probably damaging |
Het |
| Xdh |
A |
G |
17: 74,229,532 (GRCm39) |
L307P |
probably damaging |
Het |
| Zfp160 |
A |
G |
17: 21,241,090 (GRCm39) |
S53G |
probably benign |
Het |
| Zfp319 |
A |
G |
8: 96,054,659 (GRCm39) |
C515R |
probably damaging |
Het |
| Zfp747 |
A |
G |
7: 126,974,929 (GRCm39) |
F24L |
possibly damaging |
Het |
| Zzef1 |
A |
T |
11: 72,739,460 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Dnm3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00552:Dnm3
|
APN |
1 |
161,839,495 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02444:Dnm3
|
APN |
1 |
161,838,444 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
IGL02481:Dnm3
|
APN |
1 |
161,838,471 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02623:Dnm3
|
APN |
1 |
162,183,001 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL03132:Dnm3
|
APN |
1 |
161,838,674 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
IGL03330:Dnm3
|
APN |
1 |
162,148,560 (GRCm39) |
missense |
probably benign |
0.00 |
|
fever
|
UTSW |
1 |
162,148,696 (GRCm39) |
splice site |
probably null |
|
|
nobel
|
UTSW |
1 |
162,305,274 (GRCm39) |
missense |
probably damaging |
1.00 |
|
splotare
|
UTSW |
1 |
162,148,556 (GRCm39) |
missense |
probably damaging |
0.98 |
|
LCD18:Dnm3
|
UTSW |
1 |
162,234,130 (GRCm39) |
intron |
probably benign |
|
|
R0066:Dnm3
|
UTSW |
1 |
162,234,930 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0066:Dnm3
|
UTSW |
1 |
162,234,930 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0240:Dnm3
|
UTSW |
1 |
162,181,194 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0240:Dnm3
|
UTSW |
1 |
162,181,194 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0968:Dnm3
|
UTSW |
1 |
161,847,388 (GRCm39) |
splice site |
probably benign |
|
|
R1161:Dnm3
|
UTSW |
1 |
162,181,143 (GRCm39) |
missense |
probably benign |
0.06 |
|
R1680:Dnm3
|
UTSW |
1 |
161,838,545 (GRCm39) |
missense |
probably benign |
0.12 |
|
R1747:Dnm3
|
UTSW |
1 |
162,141,153 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1881:Dnm3
|
UTSW |
1 |
162,305,517 (GRCm39) |
start gained |
probably benign |
|
|
R1997:Dnm3
|
UTSW |
1 |
162,181,281 (GRCm39) |
missense |
possibly damaging |
0.60 |
|
R2270:Dnm3
|
UTSW |
1 |
162,305,358 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2897:Dnm3
|
UTSW |
1 |
162,113,643 (GRCm39) |
splice site |
probably benign |
|
|
R3018:Dnm3
|
UTSW |
1 |
162,149,328 (GRCm39) |
nonsense |
probably null |
|
|
R3851:Dnm3
|
UTSW |
1 |
162,148,696 (GRCm39) |
splice site |
probably null |
|
|
R3861:Dnm3
|
UTSW |
1 |
162,138,974 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R3930:Dnm3
|
UTSW |
1 |
161,911,699 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4432:Dnm3
|
UTSW |
1 |
161,819,566 (GRCm39) |
intron |
probably benign |
|
|
R5318:Dnm3
|
UTSW |
1 |
161,839,376 (GRCm39) |
nonsense |
probably null |
|
|
R5361:Dnm3
|
UTSW |
1 |
161,838,471 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5606:Dnm3
|
UTSW |
1 |
162,113,587 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5783:Dnm3
|
UTSW |
1 |
162,183,040 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
R6019:Dnm3
|
UTSW |
1 |
161,962,070 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6072:Dnm3
|
UTSW |
1 |
161,838,637 (GRCm39) |
small deletion |
probably benign |
|
|
R6086:Dnm3
|
UTSW |
1 |
162,148,602 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6110:Dnm3
|
UTSW |
1 |
161,838,637 (GRCm39) |
small deletion |
probably benign |
|
|
R6158:Dnm3
|
UTSW |
1 |
162,148,556 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6473:Dnm3
|
UTSW |
1 |
162,305,274 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6499:Dnm3
|
UTSW |
1 |
162,141,164 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6702:Dnm3
|
UTSW |
1 |
162,146,256 (GRCm39) |
missense |
probably benign |
0.04 |
|
R6703:Dnm3
|
UTSW |
1 |
162,146,256 (GRCm39) |
missense |
probably benign |
0.04 |
|
R6739:Dnm3
|
UTSW |
1 |
162,305,352 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6811:Dnm3
|
UTSW |
1 |
162,148,652 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R6915:Dnm3
|
UTSW |
1 |
162,145,966 (GRCm39) |
splice site |
probably null |
|
|
R6946:Dnm3
|
UTSW |
1 |
162,141,224 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R7062:Dnm3
|
UTSW |
1 |
161,962,060 (GRCm39) |
nonsense |
probably null |
|
|
R7067:Dnm3
|
UTSW |
1 |
162,148,540 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7071:Dnm3
|
UTSW |
1 |
161,847,412 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7468:Dnm3
|
UTSW |
1 |
162,149,198 (GRCm39) |
splice site |
probably null |
|
|
R7521:Dnm3
|
UTSW |
1 |
161,962,113 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7583:Dnm3
|
UTSW |
1 |
162,305,343 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R7667:Dnm3
|
UTSW |
1 |
161,839,399 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7711:Dnm3
|
UTSW |
1 |
161,819,622 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R7837:Dnm3
|
UTSW |
1 |
161,819,619 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R7838:Dnm3
|
UTSW |
1 |
161,819,619 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R7900:Dnm3
|
UTSW |
1 |
162,182,940 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7939:Dnm3
|
UTSW |
1 |
162,123,165 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R8059:Dnm3
|
UTSW |
1 |
161,911,708 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8123:Dnm3
|
UTSW |
1 |
161,838,672 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8246:Dnm3
|
UTSW |
1 |
162,135,486 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8249:Dnm3
|
UTSW |
1 |
162,305,312 (GRCm39) |
nonsense |
probably null |
|
|
R8511:Dnm3
|
UTSW |
1 |
162,113,611 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R8900:Dnm3
|
UTSW |
1 |
162,135,445 (GRCm39) |
missense |
probably benign |
0.17 |
|
R8976:Dnm3
|
UTSW |
1 |
162,135,505 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9455:Dnm3
|
UTSW |
1 |
162,148,524 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R9604:Dnm3
|
UTSW |
1 |
161,838,584 (GRCm39) |
missense |
possibly damaging |
0.55 |
|
R9617:Dnm3
|
UTSW |
1 |
162,149,354 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- CATGATGGGAGAGGATGCTCTG -3'
(R):5'- TAAGGACCATTGGCTACTGCTC -3'
Sequencing Primer
(F):5'- GTTACCACTATAATCGGCCAGTG -3'
(R):5'- GCTCAGCTGCTGAAATCTAATCTG -3'
|
| Posted On |
2014-10-01 |
Incidental Mutation