Incidental Mutation 'R1747:Dnm3'
ID |
194026 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Dnm3
|
Ensembl Gene |
ENSMUSG00000040265 |
Gene Name |
dynamin 3 |
Synonyms |
9630020E24Rik, B230343F03Rik |
MMRRC Submission |
039779-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R1747 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
1 |
Chromosomal Location |
161810022-162305603 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 162141153 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Cysteine
at position 369
(R369C)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000064538
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000070330]
[ENSMUST00000086074]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000070330
AA Change: R369C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000064538 Gene: ENSMUSG00000040265 AA Change: R369C
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: R369C
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000083241 Gene: ENSMUSG00000040265 AA Change: R369C
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
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000160695
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000161155
|
Meta Mutation Damage Score |
0.5759 |
Coding Region Coverage |
- 1x: 97.5%
- 3x: 96.9%
- 10x: 95.4%
- 20x: 92.7%
|
Validation Efficiency |
97% (65/67) |
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: 61 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700029H14Rik |
C |
T |
8: 13,608,814 (GRCm39) |
S117N |
probably damaging |
Het |
Acat3 |
A |
G |
17: 13,143,695 (GRCm39) |
I349T |
possibly damaging |
Het |
Add3 |
A |
G |
19: 53,230,981 (GRCm39) |
N552S |
probably benign |
Het |
Ak3 |
G |
T |
19: 29,000,261 (GRCm39) |
P217T |
possibly damaging |
Het |
Aox1 |
A |
T |
1: 58,378,751 (GRCm39) |
D1000V |
probably benign |
Het |
Ap1m2 |
A |
G |
9: 21,216,982 (GRCm39) |
M118T |
probably damaging |
Het |
Arhgap28 |
C |
A |
17: 68,208,304 (GRCm39) |
A105S |
probably benign |
Het |
Arhgef28 |
T |
C |
13: 98,073,332 (GRCm39) |
E1368G |
probably damaging |
Het |
Armc7 |
G |
A |
11: 115,379,583 (GRCm39) |
V94I |
probably benign |
Het |
Asxl1 |
C |
A |
2: 153,235,374 (GRCm39) |
T223N |
possibly damaging |
Het |
Btbd8 |
T |
C |
5: 107,599,865 (GRCm39) |
S119P |
probably damaging |
Het |
Cltc |
T |
C |
11: 86,597,907 (GRCm39) |
K1078E |
probably damaging |
Het |
Cpne8 |
G |
A |
15: 90,469,118 (GRCm39) |
T158I |
probably benign |
Het |
Csn1s2b |
T |
C |
5: 87,964,529 (GRCm39) |
|
probably benign |
Het |
Cyp3a59 |
A |
G |
5: 146,041,568 (GRCm39) |
I371V |
probably benign |
Het |
Dennd4c |
T |
C |
4: 86,725,675 (GRCm39) |
F710L |
probably damaging |
Het |
Diaph3 |
T |
C |
14: 87,310,773 (GRCm39) |
D126G |
probably damaging |
Het |
Dst |
A |
C |
1: 34,199,790 (GRCm39) |
Q86P |
probably damaging |
Het |
Ern2 |
C |
A |
7: 121,773,042 (GRCm39) |
|
probably null |
Het |
Ern2 |
T |
A |
7: 121,773,043 (GRCm39) |
|
probably null |
Het |
Exoc6 |
T |
A |
19: 37,628,217 (GRCm39) |
|
probably null |
Het |
Glg1 |
G |
A |
8: 111,924,305 (GRCm39) |
R228C |
probably damaging |
Het |
Gm4736 |
G |
A |
6: 132,092,633 (GRCm39) |
|
noncoding transcript |
Het |
Hmcn2 |
G |
C |
2: 31,347,997 (GRCm39) |
G4881A |
probably benign |
Het |
Htr2a |
T |
G |
14: 74,943,593 (GRCm39) |
F391C |
probably damaging |
Het |
Htr5b |
A |
T |
1: 121,455,647 (GRCm39) |
V91E |
probably damaging |
Het |
Ifi44 |
T |
A |
3: 151,454,922 (GRCm39) |
H101L |
probably benign |
Het |
Ip6k1 |
G |
A |
9: 107,918,195 (GRCm39) |
E77K |
possibly damaging |
Het |
Klhl6 |
T |
A |
16: 19,765,778 (GRCm39) |
H608L |
probably benign |
Het |
Lrp4 |
T |
C |
2: 91,322,966 (GRCm39) |
V1150A |
probably damaging |
Het |
Lyst |
T |
C |
13: 13,932,007 (GRCm39) |
F3545S |
probably benign |
Het |
Magi3 |
T |
C |
3: 103,941,489 (GRCm39) |
D822G |
possibly damaging |
Het |
Nbas |
G |
A |
12: 13,385,899 (GRCm39) |
S721N |
probably benign |
Het |
Nog |
T |
A |
11: 89,192,408 (GRCm39) |
M147L |
probably benign |
Het |
Npr1 |
C |
T |
3: 90,365,976 (GRCm39) |
C605Y |
possibly damaging |
Het |
Or7e173 |
A |
C |
9: 19,938,613 (GRCm39) |
V207G |
probably benign |
Het |
Or8k21 |
G |
A |
2: 86,145,211 (GRCm39) |
L140F |
probably benign |
Het |
Pgs1 |
A |
G |
11: 117,892,457 (GRCm39) |
S10G |
probably benign |
Het |
Pla2g4c |
T |
C |
7: 13,071,655 (GRCm39) |
|
probably benign |
Het |
Prdm14 |
C |
T |
1: 13,192,627 (GRCm39) |
V371I |
possibly damaging |
Het |
Prom1 |
C |
T |
5: 44,164,373 (GRCm39) |
V703I |
probably benign |
Het |
Ptprk |
A |
G |
10: 28,230,688 (GRCm39) |
T260A |
possibly damaging |
Het |
Scnn1g |
A |
T |
7: 121,359,686 (GRCm39) |
I390F |
probably damaging |
Het |
Scrt2 |
C |
T |
2: 151,935,638 (GRCm39) |
H264Y |
probably damaging |
Het |
Sel1l3 |
C |
T |
5: 53,302,887 (GRCm39) |
E661K |
possibly damaging |
Het |
Skic2 |
G |
T |
17: 35,066,782 (GRCm39) |
P162H |
probably benign |
Het |
Slc10a5 |
G |
T |
3: 10,400,451 (GRCm39) |
Q70K |
probably benign |
Het |
Smg8 |
A |
G |
11: 86,976,129 (GRCm39) |
V484A |
possibly damaging |
Het |
Sp110 |
C |
G |
1: 85,516,839 (GRCm39) |
E219D |
probably damaging |
Het |
Stag1 |
T |
A |
9: 100,770,353 (GRCm39) |
S630T |
probably benign |
Het |
Thyn1 |
A |
C |
9: 26,916,509 (GRCm39) |
Q98P |
probably damaging |
Het |
Ttc7 |
A |
G |
17: 87,614,443 (GRCm39) |
R203G |
possibly damaging |
Het |
Ttn |
T |
C |
2: 76,708,860 (GRCm39) |
|
probably benign |
Het |
Vmn1r236 |
C |
T |
17: 21,507,179 (GRCm39) |
S99L |
probably benign |
Het |
Vmn2r50 |
T |
A |
7: 9,781,605 (GRCm39) |
H380L |
probably benign |
Het |
Vmn2r73 |
A |
T |
7: 85,507,375 (GRCm39) |
C646S |
probably damaging |
Het |
Wnt10b |
A |
G |
15: 98,672,214 (GRCm39) |
S168P |
probably benign |
Het |
Zc3h7a |
A |
G |
16: 10,963,117 (GRCm39) |
M748T |
possibly damaging |
Het |
Zfp804b |
C |
G |
5: 6,820,217 (GRCm39) |
E913Q |
probably benign |
Het |
Zfp974 |
G |
T |
7: 27,610,506 (GRCm39) |
F406L |
possibly damaging |
Het |
Zic4 |
G |
A |
9: 91,266,199 (GRCm39) |
C274Y |
probably damaging |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- ACTTTGGTCCATAGGGGAGTCTCAG -3'
(R):5'- TGCAGTGCCAACTCAACCAGTAG -3'
Sequencing Primer
(F):5'- TCTATGAACTCACTGAAATCAGAAAG -3'
(R):5'- TCAACCAGTAGGTGTCACTAAG -3'
|
Posted On |
2014-05-23 |