Incidental Mutation 'R5361:Dnm3'
ID |
422786 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Dnm3
|
Ensembl Gene |
ENSMUSG00000040265 |
Gene Name |
dynamin 3 |
Synonyms |
9630020E24Rik, B230343F03Rik |
MMRRC Submission |
042940-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R5361 (G1)
|
Quality Score |
171 |
Status
|
Not validated
|
Chromosome |
1 |
Chromosomal Location |
161810022-162305603 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 161838471 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Proline
at position 826
(S826P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000064538
(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: S826P
PolyPhen 2
Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000064538 Gene: ENSMUSG00000040265 AA Change: S826P
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: S830P
PolyPhen 2
Score 0.734 (Sensitivity: 0.85; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000083241 Gene: ENSMUSG00000040265 AA Change: S830P
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 |
unknown
Transcript: ENSMUST00000159763
AA Change: S297P
|
SMART Domains |
Protein: ENSMUSP00000125356 Gene: ENSMUSG00000040265 AA Change: S297P
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 |
noncoding transcript
Transcript: ENSMUST00000160555
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000160665
AA Change: S297P
PolyPhen 2
Score 0.412 (Sensitivity: 0.89; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000124593 Gene: ENSMUSG00000040265 AA Change: S297P
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 |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000161583
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000161826
|
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.6%
- 20x: 96.1%
|
Validation Efficiency |
|
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: 58 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700017B05Rik |
T |
A |
9: 57,164,468 (GRCm39) |
K635N |
probably damaging |
Het |
Afg3l2 |
G |
T |
18: 67,554,329 (GRCm39) |
L458M |
probably damaging |
Het |
Ahnak |
T |
A |
19: 8,992,705 (GRCm39) |
M4663K |
possibly damaging |
Het |
C4b |
T |
A |
17: 34,960,212 (GRCm39) |
T280S |
probably benign |
Het |
Ccdc166 |
A |
G |
15: 75,852,869 (GRCm39) |
V366A |
probably benign |
Het |
Cdh23 |
A |
G |
10: 60,493,044 (GRCm39) |
|
probably null |
Het |
Col7a1 |
A |
G |
9: 108,792,292 (GRCm39) |
T1281A |
unknown |
Het |
Cul9 |
TTCCTCCTCCTCCTCCTCCTCCTC |
TTCCTCCTCCTCCTCCTCCTC |
17: 46,811,775 (GRCm39) |
|
probably benign |
Het |
Dbndd1 |
T |
A |
8: 124,233,484 (GRCm39) |
D127V |
probably damaging |
Het |
Ddx20 |
T |
A |
3: 105,590,825 (GRCm39) |
E197V |
probably damaging |
Het |
Dennd10 |
A |
G |
19: 60,814,324 (GRCm39) |
M96V |
probably benign |
Het |
Dnmt3a |
T |
C |
12: 3,945,643 (GRCm39) |
V24A |
probably benign |
Het |
Dop1b |
C |
A |
16: 93,567,392 (GRCm39) |
A1273E |
probably damaging |
Het |
Dsg1c |
T |
C |
18: 20,416,703 (GRCm39) |
V868A |
possibly damaging |
Het |
Dtx4 |
A |
G |
19: 12,462,626 (GRCm39) |
|
probably null |
Het |
Elovl4 |
A |
G |
9: 83,672,154 (GRCm39) |
L55P |
possibly damaging |
Het |
Fbxo40 |
T |
A |
16: 36,789,914 (GRCm39) |
T399S |
possibly damaging |
Het |
Fkbpl |
G |
A |
17: 34,864,303 (GRCm39) |
A24T |
probably benign |
Het |
Gm14399 |
T |
C |
2: 174,973,371 (GRCm39) |
E96G |
probably damaging |
Het |
Gm14496 |
T |
G |
2: 181,642,147 (GRCm39) |
V606G |
probably benign |
Het |
Gpr156 |
A |
G |
16: 37,826,087 (GRCm39) |
E768G |
probably damaging |
Het |
Grm5 |
A |
T |
7: 87,723,704 (GRCm39) |
T665S |
probably damaging |
Het |
Hsdl2 |
A |
G |
4: 59,592,301 (GRCm39) |
|
probably benign |
Het |
Htt |
T |
C |
5: 35,064,928 (GRCm39) |
V3047A |
possibly damaging |
Het |
Igkv3-2 |
A |
T |
6: 70,676,011 (GRCm39) |
T107S |
probably benign |
Het |
Insyn2b |
G |
A |
11: 34,352,788 (GRCm39) |
E277K |
probably damaging |
Het |
Itih2 |
T |
A |
2: 10,101,272 (GRCm39) |
T899S |
probably benign |
Het |
Lhcgr |
T |
A |
17: 89,050,281 (GRCm39) |
Y415F |
probably damaging |
Het |
Ltbr |
G |
A |
6: 125,289,757 (GRCm39) |
R146W |
probably damaging |
Het |
Med4 |
C |
A |
14: 73,747,553 (GRCm39) |
S18* |
probably null |
Het |
Nefl |
T |
C |
14: 68,322,088 (GRCm39) |
V226A |
probably damaging |
Het |
Nploc4 |
T |
A |
11: 120,275,389 (GRCm39) |
N516Y |
probably damaging |
Het |
Or1o4 |
A |
G |
17: 37,590,501 (GRCm39) |
V270A |
probably benign |
Het |
Or6c66 |
A |
T |
10: 129,461,601 (GRCm39) |
F110I |
probably damaging |
Het |
Otx1 |
C |
A |
11: 21,947,037 (GRCm39) |
A91S |
probably damaging |
Het |
Pcdha3 |
T |
G |
18: 37,079,752 (GRCm39) |
L165V |
possibly damaging |
Het |
Pcdhb12 |
T |
A |
18: 37,570,099 (GRCm39) |
V415D |
probably damaging |
Het |
Pcdhga10 |
T |
C |
18: 37,880,503 (GRCm39) |
I88T |
probably damaging |
Het |
Pigyl |
T |
A |
9: 22,069,292 (GRCm39) |
M1K |
probably null |
Het |
Prr27 |
T |
C |
5: 87,991,203 (GRCm39) |
S272P |
probably damaging |
Het |
Prss3 |
C |
T |
6: 41,350,780 (GRCm39) |
D237N |
probably benign |
Het |
Pstpip2 |
A |
G |
18: 77,958,078 (GRCm39) |
D150G |
probably damaging |
Het |
Robo4 |
T |
A |
9: 37,324,674 (GRCm39) |
D909E |
probably benign |
Het |
Serpinb3c |
A |
T |
1: 107,204,661 (GRCm39) |
Y28* |
probably null |
Het |
Slc26a3 |
T |
C |
12: 31,500,980 (GRCm39) |
|
probably null |
Het |
Slc6a1 |
A |
T |
6: 114,279,493 (GRCm39) |
I91F |
probably benign |
Het |
Smcr8 |
T |
G |
11: 60,669,118 (GRCm39) |
Y89D |
probably damaging |
Het |
Sspo |
T |
A |
6: 48,443,247 (GRCm39) |
M1898K |
probably benign |
Het |
Tbl1xr1 |
T |
A |
3: 22,246,233 (GRCm39) |
I251K |
probably damaging |
Het |
Thbs4 |
C |
T |
13: 92,913,501 (GRCm39) |
D140N |
probably benign |
Het |
Tmbim6 |
G |
A |
15: 99,303,633 (GRCm39) |
A108T |
probably benign |
Het |
Trim10 |
T |
G |
17: 37,186,328 (GRCm39) |
L301R |
probably benign |
Het |
Trpm7 |
A |
T |
2: 126,671,161 (GRCm39) |
I607N |
possibly damaging |
Het |
Vmn2r9 |
T |
A |
5: 108,995,929 (GRCm39) |
I240F |
probably damaging |
Het |
Xpot |
T |
A |
10: 121,436,765 (GRCm39) |
I873F |
possibly damaging |
Het |
Zfhx4 |
G |
A |
3: 5,464,267 (GRCm39) |
S1475N |
probably damaging |
Het |
Zfp712 |
A |
G |
13: 67,189,079 (GRCm39) |
S483P |
possibly damaging |
Het |
Zswim7 |
A |
T |
11: 62,158,373 (GRCm39) |
H122Q |
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 |
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 |
|
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'- ACAAAGGGTGTCCTAATGAGC -3'
(R):5'- TGACGATAAGTGCTCCCCTC -3'
Sequencing Primer
(F):5'- TGTCCTAATGAGCCCAGGCAC -3'
(R):5'- GATAAGTGCTCCCCTCCCAAGG -3'
|
Posted On |
2016-08-04 |