Incidental Mutation 'IGL03132:Dnm3'
| ID |
410394 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Dnm3
|
| Ensembl Gene |
ENSMUSG00000040265 |
| Gene Name |
dynamin 3 |
| Synonyms |
9630020E24Rik, B230343F03Rik |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL03132
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
1 |
| Chromosomal Location |
161810022-162305603 bp(-) (GRCm39) |
| Type of Mutation |
critical splice acceptor site |
| DNA Base Change (assembly) |
C to T
at 161838674 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000124593
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000070330]
[ENSMUST00000070330]
[ENSMUST00000070330]
[ENSMUST00000086074]
[ENSMUST00000086074]
[ENSMUST00000086074]
[ENSMUST00000159763]
[ENSMUST00000159763]
[ENSMUST00000159763]
[ENSMUST00000160665]
[ENSMUST00000160665]
[ENSMUST00000160665]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably null
Transcript: ENSMUST00000070330
|
| SMART Domains |
Protein: ENSMUSP00000064538
Gene: ENSMUSG00000040265
| 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 null
Transcript: ENSMUST00000070330
|
| SMART Domains |
Protein: ENSMUSP00000064538
Gene: ENSMUSG00000040265
| 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 null
Transcript: ENSMUST00000070330
|
| SMART Domains |
Protein: ENSMUSP00000064538
Gene: ENSMUSG00000040265
| 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 null
Transcript: ENSMUST00000086074
|
| SMART Domains |
Protein: ENSMUSP00000083241
Gene: ENSMUSG00000040265
| 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 null
Transcript: ENSMUST00000086074
|
| SMART Domains |
Protein: ENSMUSP00000083241
Gene: ENSMUSG00000040265
| 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 null
Transcript: ENSMUST00000086074
|
| SMART Domains |
Protein: ENSMUSP00000083241
Gene: ENSMUSG00000040265
| 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 null
Transcript: ENSMUST00000159763
|
| SMART Domains |
Protein: ENSMUSP00000125356
Gene: ENSMUSG00000040265
| 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 null
Transcript: ENSMUST00000159763
|
| SMART Domains |
Protein: ENSMUSP00000125356
Gene: ENSMUSG00000040265
| 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 null
Transcript: ENSMUST00000159763
|
| SMART Domains |
Protein: ENSMUSP00000125356
Gene: ENSMUSG00000040265
| 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 null
Transcript: ENSMUST00000160665
|
| SMART Domains |
Protein: ENSMUSP00000124593
Gene: ENSMUSG00000040265
| 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 |
probably null
Transcript: ENSMUST00000160665
|
| SMART Domains |
Protein: ENSMUSP00000124593
Gene: ENSMUSG00000040265
| 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 |
probably null
Transcript: ENSMUST00000160665
|
| SMART Domains |
Protein: ENSMUSP00000124593
Gene: ENSMUSG00000040265
| 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 |
|
| 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: 29 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abtb1 |
G |
A |
6: 88,815,941 (GRCm39) |
R177C |
probably benign |
Het |
| Adam21 |
C |
A |
12: 81,607,148 (GRCm39) |
G205* |
probably null |
Het |
| Baz2b |
T |
A |
2: 59,738,097 (GRCm39) |
|
probably benign |
Het |
| Col6a3 |
C |
T |
1: 90,731,615 (GRCm39) |
G939D |
probably damaging |
Het |
| Csf1r |
A |
G |
18: 61,261,171 (GRCm39) |
E749G |
probably benign |
Het |
| Dsg3 |
A |
G |
18: 20,657,653 (GRCm39) |
D241G |
probably damaging |
Het |
| Dst |
T |
C |
1: 34,295,722 (GRCm39) |
S6015P |
probably benign |
Het |
| Dvl2 |
T |
C |
11: 69,896,514 (GRCm39) |
S183P |
probably benign |
Het |
| Exoc6b |
T |
C |
6: 84,768,246 (GRCm39) |
N699S |
possibly damaging |
Het |
| Fat2 |
T |
C |
11: 55,144,746 (GRCm39) |
R4043G |
probably benign |
Het |
| Gbp9 |
T |
A |
5: 105,232,819 (GRCm39) |
T278S |
possibly damaging |
Het |
| Gm2a |
T |
A |
11: 54,994,474 (GRCm39) |
I48N |
probably damaging |
Het |
| Gorasp2 |
T |
C |
2: 70,514,379 (GRCm39) |
V232A |
probably benign |
Het |
| Gpa33 |
G |
A |
1: 165,980,218 (GRCm39) |
D94N |
probably benign |
Het |
| Il1rap |
A |
T |
16: 26,498,869 (GRCm39) |
S123C |
probably damaging |
Het |
| Kctd17 |
T |
C |
15: 78,319,887 (GRCm39) |
S102P |
probably damaging |
Het |
| Lamb1 |
A |
G |
12: 31,350,333 (GRCm39) |
|
probably null |
Het |
| Mfsd1 |
T |
A |
3: 67,495,273 (GRCm39) |
I131K |
possibly damaging |
Het |
| Pkhd1l1 |
G |
A |
15: 44,438,013 (GRCm39) |
C3576Y |
probably damaging |
Het |
| Pla2g4a |
A |
T |
1: 149,778,035 (GRCm39) |
|
probably benign |
Het |
| Ptpn11 |
T |
A |
5: 121,272,878 (GRCm39) |
D575V |
possibly damaging |
Het |
| Reck |
A |
T |
4: 43,938,898 (GRCm39) |
R755* |
probably null |
Het |
| Scgb2b21 |
A |
G |
7: 33,219,299 (GRCm39) |
V35A |
possibly damaging |
Het |
| Srpra |
G |
A |
9: 35,125,574 (GRCm39) |
|
probably null |
Het |
| Stk11ip |
T |
C |
1: 75,512,733 (GRCm39) |
S1025P |
probably benign |
Het |
| Tmprss9 |
G |
A |
10: 80,730,699 (GRCm39) |
V742M |
probably damaging |
Het |
| Trh |
T |
C |
6: 92,220,755 (GRCm39) |
T36A |
probably benign |
Het |
| Trim35 |
A |
G |
14: 66,546,595 (GRCm39) |
E454G |
probably damaging |
Het |
| Vmn2r99 |
C |
T |
17: 19,598,485 (GRCm39) |
Q170* |
probably null |
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 |
|
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 |
|
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 |
|
| Posted On |
2016-08-02 |
Incidental Mutation