Incidental Mutation 'R8059:Dnm3'
ID |
619578 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Dnm3
|
Ensembl Gene |
ENSMUSG00000040265 |
Gene Name |
dynamin 3 |
Synonyms |
9630020E24Rik, B230343F03Rik |
MMRRC Submission |
067894-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R8059 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
1 |
Chromosomal Location |
161810022-162305603 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 161911708 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Alanine
at position 63
(V63A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000125356
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000070330]
[ENSMUST00000086074]
[ENSMUST00000159763]
[ENSMUST00000160665]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000070330
AA Change: V592A
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000064538 Gene: ENSMUSG00000040265 AA Change: V592A
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 |
probably damaging
Transcript: ENSMUST00000086074
AA Change: V592A
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000083241 Gene: ENSMUSG00000040265 AA Change: V592A
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 |
probably damaging
Transcript: ENSMUST00000159763
AA Change: V63A
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000125356 Gene: ENSMUSG00000040265 AA Change: V63A
Domain | Start | End | E-Value | Type |
PH
|
1 |
94 |
5.13e-2 |
SMART |
GED
|
115 |
206 |
6.82e-33 |
SMART |
low complexity region
|
209 |
222 |
N/A |
INTRINSIC |
low complexity region
|
227 |
242 |
N/A |
INTRINSIC |
low complexity region
|
270 |
283 |
N/A |
INTRINSIC |
low complexity region
|
295 |
319 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000160665
AA Change: V63A
PolyPhen 2
Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000124593 Gene: ENSMUSG00000040265 AA Change: V63A
Domain | Start | End | E-Value | Type |
PH
|
1 |
94 |
5.13e-2 |
SMART |
GED
|
115 |
206 |
6.82e-33 |
SMART |
low complexity region
|
209 |
222 |
N/A |
INTRINSIC |
low complexity region
|
227 |
242 |
N/A |
INTRINSIC |
low complexity region
|
270 |
283 |
N/A |
INTRINSIC |
|
Meta Mutation Damage Score |
0.6511 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.1%
|
Validation Efficiency |
100% (58/58) |
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: 57 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca13 |
T |
A |
11: 9,323,279 (GRCm39) |
M3372K |
probably benign |
Het |
Abcg3 |
A |
T |
5: 105,100,948 (GRCm39) |
|
probably null |
Het |
Adam19 |
G |
A |
11: 46,027,293 (GRCm39) |
|
probably benign |
Het |
Adgrg6 |
G |
T |
10: 14,344,794 (GRCm39) |
T53K |
probably damaging |
Het |
Ccdc141 |
A |
C |
2: 76,875,095 (GRCm39) |
L705R |
probably damaging |
Het |
Cep78 |
A |
T |
19: 15,958,876 (GRCm39) |
V156E |
probably benign |
Het |
Cers2 |
A |
G |
3: 95,229,982 (GRCm39) |
D342G |
probably damaging |
Het |
Chl1 |
T |
A |
6: 103,651,948 (GRCm39) |
I272N |
probably damaging |
Het |
Defb30 |
A |
G |
14: 63,273,383 (GRCm39) |
*77Q |
probably null |
Het |
Dnai3 |
C |
G |
3: 145,752,428 (GRCm39) |
R749S |
possibly damaging |
Het |
Dsc2 |
C |
T |
18: 20,165,331 (GRCm39) |
G881R |
possibly damaging |
Het |
Entpd2 |
G |
T |
2: 25,288,096 (GRCm39) |
V107L |
probably damaging |
Het |
Hectd1 |
T |
A |
12: 51,837,161 (GRCm39) |
H799L |
possibly damaging |
Het |
Hira |
T |
C |
16: 18,730,901 (GRCm39) |
V200A |
probably damaging |
Het |
Hspd1 |
T |
C |
1: 55,120,883 (GRCm39) |
K269E |
possibly damaging |
Het |
Kcnj4 |
T |
C |
15: 79,369,003 (GRCm39) |
S326G |
probably benign |
Het |
Kctd19 |
T |
G |
8: 106,122,983 (GRCm39) |
I144L |
probably benign |
Het |
Lama4 |
T |
C |
10: 38,842,057 (GRCm39) |
I36T |
probably benign |
Het |
Lrrn3 |
T |
C |
12: 41,504,216 (GRCm39) |
T34A |
probably benign |
Het |
Maco1 |
A |
T |
4: 134,555,359 (GRCm39) |
C371* |
probably null |
Het |
Maml3 |
A |
G |
3: 51,764,110 (GRCm39) |
S285P |
probably damaging |
Het |
Man2b2 |
A |
G |
5: 36,973,504 (GRCm39) |
Y492H |
probably damaging |
Het |
Mapk10 |
G |
T |
5: 103,114,478 (GRCm39) |
N303K |
probably damaging |
Het |
Matn2 |
C |
T |
15: 34,345,481 (GRCm39) |
R163C |
probably damaging |
Het |
Mtmr7 |
C |
T |
8: 41,034,564 (GRCm39) |
A253T |
probably damaging |
Het |
Naca |
C |
T |
10: 127,876,372 (GRCm39) |
P468L |
unknown |
Het |
Nckap1l |
T |
C |
15: 103,401,714 (GRCm39) |
S1084P |
possibly damaging |
Het |
Nek11 |
T |
C |
9: 105,040,173 (GRCm39) |
*629W |
probably null |
Het |
Nfkb1 |
C |
T |
3: 135,299,613 (GRCm39) |
A731T |
possibly damaging |
Het |
Nop2 |
T |
C |
6: 125,117,775 (GRCm39) |
V442A |
probably damaging |
Het |
Oaz2 |
C |
T |
9: 65,596,425 (GRCm39) |
P163L |
probably damaging |
Het |
Or5p57 |
T |
C |
7: 107,665,223 (GRCm39) |
T231A |
probably benign |
Het |
Or6d14 |
C |
T |
6: 116,533,434 (GRCm39) |
T16I |
possibly damaging |
Het |
Or8k23 |
A |
G |
2: 86,186,306 (GRCm39) |
V140A |
probably benign |
Het |
Pabpc2 |
A |
T |
18: 39,907,875 (GRCm39) |
N380I |
probably benign |
Het |
Pax3 |
T |
C |
1: 78,080,003 (GRCm39) |
D461G |
probably benign |
Het |
Pds5b |
G |
T |
5: 150,731,300 (GRCm39) |
R1443L |
unknown |
Het |
Per1 |
G |
A |
11: 68,997,309 (GRCm39) |
R828H |
probably damaging |
Het |
Phlpp2 |
T |
A |
8: 110,622,189 (GRCm39) |
S144T |
probably benign |
Het |
Plod1 |
A |
T |
4: 148,012,941 (GRCm39) |
I207N |
probably damaging |
Het |
Psmc6 |
A |
T |
14: 45,578,260 (GRCm39) |
I208F |
probably damaging |
Het |
Rev3l |
T |
C |
10: 39,719,491 (GRCm39) |
S2494P |
probably damaging |
Het |
Rgs3 |
T |
C |
4: 62,521,214 (GRCm39) |
|
probably benign |
Het |
Rtraf |
T |
C |
14: 19,872,631 (GRCm39) |
|
probably benign |
Het |
Slc17a6 |
T |
A |
7: 51,294,792 (GRCm39) |
N166K |
probably damaging |
Het |
Slc18a2 |
A |
T |
19: 59,272,572 (GRCm39) |
T348S |
probably benign |
Het |
Slc39a8 |
G |
T |
3: 135,532,347 (GRCm39) |
A39S |
probably benign |
Het |
Slc8a3 |
C |
T |
12: 81,249,032 (GRCm39) |
G799S |
probably damaging |
Het |
Sp1 |
T |
G |
15: 102,316,337 (GRCm39) |
S46R |
possibly damaging |
Het |
Spta1 |
A |
G |
1: 174,045,936 (GRCm39) |
|
probably benign |
Het |
Stab1 |
G |
A |
14: 30,882,198 (GRCm39) |
P499L |
probably benign |
Het |
Trav21-dv12 |
C |
A |
14: 54,114,178 (GRCm39) |
D99E |
probably damaging |
Het |
Trpv6 |
T |
G |
6: 41,601,520 (GRCm39) |
I467L |
probably benign |
Het |
Ttc41 |
A |
G |
10: 86,548,842 (GRCm39) |
Y12C |
probably benign |
Het |
Vmn1r233 |
T |
C |
17: 21,214,698 (GRCm39) |
N84S |
probably benign |
Het |
Vrtn |
T |
C |
12: 84,696,690 (GRCm39) |
F480S |
probably benign |
Het |
Zc3h13 |
C |
G |
14: 75,565,250 (GRCm39) |
R788G |
unknown |
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 |
R2157:Dnm3
|
UTSW |
1 |
162,135,462 (GRCm39) |
missense |
possibly damaging |
0.95 |
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 |
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'- TGCATCTTCCTCAGCATAGC -3'
(R):5'- ATCCCTGTTAACTGTGAGATCTTC -3'
Sequencing Primer
(F):5'- GCGTGCAGTGATTTCTTTCCAATAAG -3'
(R):5'- TCTGCAGCGATCTGAGAT -3'
|
Posted On |
2020-01-23 |