Incidental Mutation 'R3861:Dnm3'
| ID |
276322 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Dnm3
|
| Ensembl Gene |
ENSMUSG00000040265 |
| Gene Name |
dynamin 3 |
| Synonyms |
9630020E24Rik, B230343F03Rik |
| MMRRC Submission |
040788-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R3861 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
161810022-162305603 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 162138974 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Leucine
at position 395
(I395L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000064538
(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: I395L
PolyPhen 2
Score 0.789 (Sensitivity: 0.85; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000064538
Gene: ENSMUSG00000040265
AA Change: I395L
| 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: I395L
PolyPhen 2
Score 0.584 (Sensitivity: 0.88; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000083241
Gene: ENSMUSG00000040265
AA Change: I395L
| 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
|
| Meta Mutation Damage Score |
0.1216 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.8%
|
| Validation Efficiency |
100% (55/55) |
| 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 |
|---|
| 5730507C01Rik |
G |
A |
12: 18,583,411 (GRCm39) |
S157N |
probably benign |
Het |
| A830018L16Rik |
T |
C |
1: 11,658,778 (GRCm39) |
|
probably benign |
Het |
| Akip1 |
C |
T |
7: 109,306,613 (GRCm39) |
|
probably benign |
Het |
| Anxa5 |
T |
C |
3: 36,504,807 (GRCm39) |
T252A |
probably benign |
Het |
| Arhgef10l |
A |
G |
4: 140,242,798 (GRCm39) |
F1072L |
possibly damaging |
Het |
| Armc1 |
C |
T |
3: 19,189,196 (GRCm39) |
R186Q |
probably damaging |
Het |
| Atxn2l |
A |
T |
7: 126,101,123 (GRCm39) |
|
probably null |
Het |
| Cadps2 |
A |
G |
6: 23,355,860 (GRCm39) |
I849T |
probably damaging |
Het |
| Ccdc28a |
T |
A |
10: 18,100,743 (GRCm39) |
Q28L |
probably damaging |
Het |
| Cdh4 |
T |
A |
2: 179,515,890 (GRCm39) |
V356D |
probably damaging |
Het |
| Chd8 |
T |
A |
14: 52,474,578 (GRCm39) |
Q151L |
probably benign |
Het |
| Chgb |
T |
A |
2: 132,635,064 (GRCm39) |
H335Q |
probably damaging |
Het |
| Col19a1 |
G |
A |
1: 24,365,098 (GRCm39) |
P506S |
probably damaging |
Het |
| Col5a2 |
T |
C |
1: 45,419,397 (GRCm39) |
T1228A |
probably damaging |
Het |
| Cpxm2 |
A |
G |
7: 131,656,648 (GRCm39) |
V538A |
probably benign |
Het |
| Cramp1 |
A |
T |
17: 25,216,588 (GRCm39) |
|
probably benign |
Het |
| Cttnbp2 |
T |
C |
6: 18,423,832 (GRCm39) |
R831G |
probably benign |
Het |
| Cyp4f17 |
A |
G |
17: 32,747,078 (GRCm39) |
D436G |
probably damaging |
Het |
| Dcaf6 |
A |
T |
1: 165,256,838 (GRCm39) |
N48K |
probably damaging |
Het |
| Ddx50 |
C |
A |
10: 62,478,725 (GRCm39) |
V154L |
possibly damaging |
Het |
| Dnah9 |
T |
C |
11: 65,943,820 (GRCm39) |
|
probably benign |
Het |
| Elp2 |
C |
T |
18: 24,739,977 (GRCm39) |
R68C |
probably benign |
Het |
| Frg1 |
A |
T |
8: 41,860,820 (GRCm39) |
|
probably null |
Het |
| Fsip2 |
G |
T |
2: 82,815,120 (GRCm39) |
D3618Y |
probably damaging |
Het |
| Gabra2 |
T |
C |
5: 71,130,886 (GRCm39) |
D314G |
probably damaging |
Het |
| Gramd1a |
A |
C |
7: 30,835,365 (GRCm39) |
D407E |
possibly damaging |
Het |
| Grm5 |
T |
A |
7: 87,779,202 (GRCm39) |
S881T |
possibly damaging |
Het |
| Ikbkb |
T |
A |
8: 23,168,852 (GRCm39) |
I216F |
possibly damaging |
Het |
| Kif3a |
T |
C |
11: 53,488,805 (GRCm39) |
V634A |
probably benign |
Het |
| Ltbp1 |
A |
T |
17: 75,666,333 (GRCm39) |
Y1342F |
possibly damaging |
Het |
| Mia2 |
G |
T |
12: 59,155,807 (GRCm39) |
V508L |
probably benign |
Het |
| Mtus2 |
C |
T |
5: 148,250,223 (GRCm39) |
T155M |
probably damaging |
Het |
| Napepld |
A |
T |
5: 21,888,287 (GRCm39) |
V54E |
probably benign |
Het |
| Nlrc4 |
T |
C |
17: 74,752,616 (GRCm39) |
E589G |
probably benign |
Het |
| Nphp3 |
G |
T |
9: 103,916,525 (GRCm39) |
|
probably benign |
Het |
| Nr2f1 |
T |
A |
13: 78,343,794 (GRCm39) |
R10* |
probably null |
Het |
| Nsfl1c |
C |
A |
2: 151,352,824 (GRCm39) |
|
probably null |
Het |
| Or14a258 |
A |
G |
7: 86,035,331 (GRCm39) |
V179A |
possibly damaging |
Het |
| Pcdhgc3 |
A |
G |
18: 37,941,581 (GRCm39) |
T661A |
probably damaging |
Het |
| Pdzrn3 |
A |
G |
6: 101,149,332 (GRCm39) |
V332A |
possibly damaging |
Het |
| Pip4p2 |
A |
G |
4: 14,902,506 (GRCm39) |
N169S |
probably damaging |
Het |
| Pkhd1 |
C |
T |
1: 20,271,151 (GRCm39) |
C3134Y |
probably damaging |
Het |
| Ptprz1 |
T |
C |
6: 23,036,894 (GRCm39) |
V1131A |
probably damaging |
Het |
| Rccd1 |
T |
C |
7: 79,970,116 (GRCm39) |
E167G |
probably benign |
Het |
| Ror1 |
T |
C |
4: 100,265,120 (GRCm39) |
I198T |
possibly damaging |
Het |
| Rpl31-ps17 |
C |
T |
12: 54,748,397 (GRCm39) |
|
noncoding transcript |
Het |
| Scly |
C |
T |
1: 91,230,573 (GRCm39) |
|
probably benign |
Het |
| Scn4a |
T |
C |
11: 106,216,950 (GRCm39) |
|
probably benign |
Het |
| Sh3rf2 |
T |
C |
18: 42,286,384 (GRCm39) |
S594P |
probably damaging |
Het |
| Slc19a1 |
G |
A |
10: 76,877,809 (GRCm39) |
V115M |
possibly damaging |
Het |
| Slc26a6 |
A |
T |
9: 108,731,395 (GRCm39) |
|
probably benign |
Het |
| Smg7 |
C |
T |
1: 152,728,349 (GRCm39) |
R439K |
probably null |
Het |
| Spata31e3 |
T |
C |
13: 50,400,887 (GRCm39) |
K480E |
probably benign |
Het |
| Syne2 |
A |
G |
12: 76,013,253 (GRCm39) |
R2815G |
probably damaging |
Het |
| Trim75 |
G |
A |
8: 65,435,479 (GRCm39) |
R324C |
probably damaging |
Het |
| Ucp3 |
T |
C |
7: 100,129,458 (GRCm39) |
S98P |
probably benign |
Het |
| Zscan29 |
G |
C |
2: 120,991,212 (GRCm39) |
R859G |
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 |
|
|
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'- GATGCTCAGTTCTTATTGGAAACAG -3'
(R):5'- TCCATGTGGCCTTGAACTCC -3'
Sequencing Primer
(F):5'- CTCAGTTCTTATTGGAAACAGTACAG -3'
(R):5'- GTGGCCTTGAACTCCATATAAACAG -3'
|
| Posted On |
2015-04-06 |
Incidental Mutation