Incidental Mutation 'R6086:Dnm3'
ID |
482459 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Dnm3
|
Ensembl Gene |
ENSMUSG00000040265 |
Gene Name |
dynamin 3 |
Synonyms |
9630020E24Rik, B230343F03Rik |
MMRRC Submission |
044427-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R6086 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
1 |
Chromosomal Location |
161810022-162305603 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to A
at 162148602 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Serine
at position 256
(R256S)
|
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: R256S
PolyPhen 2
Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000064538 Gene: ENSMUSG00000040265 AA Change: R256S
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: R256S
PolyPhen 2
Score 0.922 (Sensitivity: 0.81; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000083241 Gene: ENSMUSG00000040265 AA Change: R256S
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: ENSMUST00000160695
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000161155
|
Meta Mutation Damage Score |
0.2216 |
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.2%
- 20x: 94.9%
|
Validation Efficiency |
96% (65/68) |
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: 65 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Apob |
G |
T |
12: 8,065,164 (GRCm39) |
K4044N |
probably benign |
Het |
Asic4 |
G |
A |
1: 75,449,887 (GRCm39) |
V468I |
possibly damaging |
Het |
Atf4 |
T |
A |
15: 80,141,654 (GRCm39) |
V348D |
probably benign |
Het |
Bcl9 |
A |
G |
3: 97,112,840 (GRCm39) |
V1205A |
possibly damaging |
Het |
Bora |
A |
T |
14: 99,299,730 (GRCm39) |
Q234L |
possibly damaging |
Het |
Cap2 |
C |
A |
13: 46,789,188 (GRCm39) |
P131Q |
probably damaging |
Het |
Cdyl2 |
A |
G |
8: 117,316,035 (GRCm39) |
S318P |
probably damaging |
Het |
Ces1a |
T |
G |
8: 93,753,981 (GRCm39) |
N341H |
probably benign |
Het |
Cimap2 |
T |
C |
4: 106,470,403 (GRCm39) |
E218G |
probably damaging |
Het |
Crlf3 |
C |
T |
11: 79,939,436 (GRCm39) |
V352M |
possibly damaging |
Het |
Cybb |
C |
G |
X: 9,316,989 (GRCm39) |
D246H |
probably benign |
Het |
Cyren |
A |
G |
6: 34,851,555 (GRCm39) |
S127P |
probably damaging |
Het |
Dnah2 |
T |
C |
11: 69,406,834 (GRCm39) |
T529A |
probably benign |
Het |
Dnah9 |
C |
T |
11: 65,880,741 (GRCm39) |
D2619N |
probably damaging |
Het |
Dnah9 |
A |
C |
11: 65,976,000 (GRCm39) |
S1350A |
probably benign |
Het |
Dnajc6 |
C |
T |
4: 101,455,004 (GRCm39) |
S65L |
probably benign |
Het |
Enpp2 |
T |
C |
15: 54,709,230 (GRCm39) |
D795G |
probably damaging |
Het |
Fah |
A |
T |
7: 84,238,120 (GRCm39) |
W367R |
probably damaging |
Het |
Fam220a |
T |
A |
5: 143,548,796 (GRCm39) |
H69Q |
probably benign |
Het |
Fgd3 |
T |
A |
13: 49,440,772 (GRCm39) |
T220S |
probably benign |
Het |
Furin |
G |
T |
7: 80,045,179 (GRCm39) |
H248Q |
probably damaging |
Het |
Gabrg1 |
A |
T |
5: 70,911,396 (GRCm39) |
L410Q |
probably damaging |
Het |
Gm10801 |
AAGT |
AAGTAGT |
2: 98,494,148 (GRCm39) |
|
probably null |
Het |
Gm9742 |
T |
C |
13: 8,080,069 (GRCm39) |
|
noncoding transcript |
Het |
Gpcpd1 |
A |
G |
2: 132,380,034 (GRCm39) |
S252P |
probably damaging |
Het |
Hnrnpdl |
C |
T |
5: 100,184,340 (GRCm39) |
G398S |
probably null |
Het |
Hspa1l |
T |
C |
17: 35,197,131 (GRCm39) |
V390A |
possibly damaging |
Het |
Htr3b |
T |
C |
9: 48,858,598 (GRCm39) |
S94G |
probably benign |
Het |
Klf10 |
G |
T |
15: 38,297,181 (GRCm39) |
S271R |
probably benign |
Het |
Klk1b3 |
T |
A |
7: 43,851,158 (GRCm39) |
L197Q |
probably damaging |
Het |
Knl1 |
A |
G |
2: 118,924,549 (GRCm39) |
R1861G |
probably damaging |
Het |
Myo9a |
C |
T |
9: 59,697,340 (GRCm39) |
Q374* |
probably null |
Het |
Myt1l |
G |
A |
12: 29,882,331 (GRCm39) |
G509R |
unknown |
Het |
Ncapg |
T |
C |
5: 45,850,578 (GRCm39) |
L728P |
probably damaging |
Het |
Nfxl1 |
A |
C |
5: 72,698,362 (GRCm39) |
F228V |
probably benign |
Het |
Ntaq1 |
C |
A |
15: 58,014,024 (GRCm39) |
A71E |
probably damaging |
Het |
Oc90 |
A |
G |
15: 65,761,560 (GRCm39) |
S153P |
probably damaging |
Het |
Or4c123 |
A |
G |
2: 89,127,198 (GRCm39) |
C139R |
probably damaging |
Het |
Or5b105 |
A |
G |
19: 13,079,745 (GRCm39) |
*308Q |
probably null |
Het |
Pbk |
A |
T |
14: 66,052,702 (GRCm39) |
K182* |
probably null |
Het |
Piezo1 |
A |
G |
8: 123,228,396 (GRCm39) |
F296S |
possibly damaging |
Het |
Psmg1 |
T |
A |
16: 95,781,244 (GRCm39) |
Y288F |
probably damaging |
Het |
Rab11fip4 |
G |
A |
11: 79,574,306 (GRCm39) |
D132N |
probably damaging |
Het |
Recql4 |
T |
C |
15: 76,588,787 (GRCm39) |
D1051G |
probably damaging |
Het |
Reep5 |
A |
C |
18: 34,490,184 (GRCm39) |
D104E |
probably damaging |
Het |
Rnpepl1 |
T |
C |
1: 92,845,403 (GRCm39) |
Y441H |
probably damaging |
Het |
Scnm1 |
T |
C |
3: 95,037,596 (GRCm39) |
I157V |
probably benign |
Het |
Sema3b |
T |
C |
9: 107,478,047 (GRCm39) |
D446G |
probably damaging |
Het |
Sema4d |
C |
T |
13: 51,867,781 (GRCm39) |
R190Q |
probably damaging |
Het |
Slco3a1 |
G |
A |
7: 73,968,338 (GRCm39) |
R461C |
possibly damaging |
Het |
Spmap2l |
T |
A |
5: 77,209,152 (GRCm39) |
V458E |
probably benign |
Het |
Tenm2 |
T |
A |
11: 35,899,473 (GRCm39) |
I2562F |
possibly damaging |
Het |
Tmem40 |
G |
T |
6: 115,710,628 (GRCm39) |
N120K |
possibly damaging |
Het |
Tmod3 |
T |
C |
9: 75,407,405 (GRCm39) |
H351R |
probably benign |
Het |
Tnn |
C |
T |
1: 159,913,690 (GRCm39) |
V1268M |
probably damaging |
Het |
Tpmt |
T |
A |
13: 47,188,506 (GRCm39) |
D132V |
probably damaging |
Het |
Trgc3 |
T |
C |
13: 19,447,454 (GRCm39) |
S136P |
probably damaging |
Het |
Trib1 |
G |
A |
15: 59,526,324 (GRCm39) |
R298H |
probably damaging |
Het |
Tsen2 |
A |
G |
6: 115,537,036 (GRCm39) |
E264G |
probably benign |
Het |
Urah |
A |
G |
7: 140,416,711 (GRCm39) |
I60M |
probably benign |
Het |
Vmn2r26 |
T |
A |
6: 124,016,519 (GRCm39) |
S328T |
possibly damaging |
Het |
Vmn2r27 |
G |
C |
6: 124,168,958 (GRCm39) |
T724R |
probably damaging |
Het |
Washc2 |
A |
G |
6: 116,233,177 (GRCm39) |
|
probably null |
Het |
Zfp955b |
T |
A |
17: 33,521,478 (GRCm39) |
W316R |
probably benign |
Het |
Zranb2 |
T |
C |
3: 157,248,883 (GRCm39) |
|
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 |
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 |
|
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'- GCAGAGTGAGTCTTACCTGG -3'
(R):5'- CAGTGAGGTCTTGGATGGAAC -3'
|
Posted On |
2017-07-14 |