Incidental Mutation 'R6915:Dnm3'
| ID |
554319 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Dnm3
|
| Ensembl Gene |
ENSMUSG00000040265 |
| Gene Name |
dynamin 3 |
| Synonyms |
9630020E24Rik, B230343F03Rik |
| MMRRC Submission |
045036-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6915 (G1)
|
| Quality Score |
75.0075 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
161810022-162305603 bp(-) (GRCm39) |
| Type of Mutation |
splice site (184 bp from exon) |
| DNA Base Change (assembly) |
T to C
at 162145966 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000083241
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000070330]
[ENSMUST00000086074]
|
| 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: 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 |
|
| Meta Mutation Damage Score |
0.9755 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.2%
- 20x: 97.3%
|
| Validation Efficiency |
97% (63/65) |
| 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: 63 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adck1 |
C |
A |
12: 88,422,390 (GRCm39) |
L334I |
probably damaging |
Het |
| Akap9 |
T |
A |
5: 4,010,551 (GRCm39) |
M436K |
probably benign |
Het |
| Ankmy1 |
A |
C |
1: 92,816,173 (GRCm39) |
F314V |
probably null |
Het |
| Arid5b |
G |
A |
10: 68,022,042 (GRCm39) |
Q183* |
probably null |
Het |
| Atp8b4 |
A |
T |
2: 126,200,834 (GRCm39) |
L778* |
probably null |
Het |
| BC024139 |
G |
T |
15: 76,004,221 (GRCm39) |
N739K |
probably benign |
Het |
| Carns1 |
T |
G |
19: 4,219,912 (GRCm39) |
H441P |
probably benign |
Het |
| Cby2 |
T |
A |
14: 75,830,098 (GRCm39) |
T32S |
probably benign |
Het |
| Ccdc121rt3 |
A |
T |
5: 112,502,523 (GRCm39) |
W394R |
probably damaging |
Het |
| Cfap70 |
T |
A |
14: 20,459,153 (GRCm39) |
I693F |
probably benign |
Het |
| Cldn3 |
A |
G |
5: 135,015,426 (GRCm39) |
Q43R |
probably damaging |
Het |
| Col7a1 |
C |
T |
9: 108,796,686 (GRCm39) |
P1608L |
probably benign |
Het |
| Cr2 |
T |
A |
1: 194,853,454 (GRCm39) |
Y28F |
probably benign |
Het |
| Cyp2c38 |
T |
A |
19: 39,424,512 (GRCm39) |
I269F |
probably damaging |
Het |
| Dapk1 |
A |
T |
13: 60,844,256 (GRCm39) |
I92F |
probably damaging |
Het |
| Dennd4a |
T |
A |
9: 64,759,771 (GRCm39) |
L292* |
probably null |
Het |
| Dhx38 |
T |
C |
8: 110,286,231 (GRCm39) |
E353G |
probably benign |
Het |
| Dzip3 |
T |
C |
16: 48,762,488 (GRCm39) |
I794V |
possibly damaging |
Het |
| Eif2b5 |
T |
A |
16: 20,321,500 (GRCm39) |
V351D |
possibly damaging |
Het |
| Epg5 |
T |
A |
18: 78,022,380 (GRCm39) |
V1041E |
probably benign |
Het |
| Exoc4 |
A |
G |
6: 33,898,388 (GRCm39) |
K869R |
possibly damaging |
Het |
| Fat3 |
C |
A |
9: 16,289,044 (GRCm39) |
V160F |
probably benign |
Het |
| Gak |
A |
T |
5: 108,750,816 (GRCm39) |
Y365N |
probably benign |
Het |
| Ghrhr |
T |
A |
6: 55,360,104 (GRCm39) |
|
probably null |
Het |
| Gm21738 |
A |
G |
14: 19,415,933 (GRCm38) |
M202T |
probably benign |
Het |
| Havcr2 |
C |
T |
11: 46,366,738 (GRCm39) |
S177L |
probably benign |
Het |
| Hkdc1 |
G |
C |
10: 62,237,711 (GRCm39) |
R353G |
possibly damaging |
Het |
| Ifi208 |
G |
A |
1: 173,510,444 (GRCm39) |
G200S |
probably damaging |
Het |
| Klhl20 |
T |
C |
1: 160,921,266 (GRCm39) |
D63G |
possibly damaging |
Het |
| Lair1 |
A |
T |
7: 4,058,952 (GRCm39) |
V12E |
possibly damaging |
Het |
| Lipo3 |
T |
C |
19: 33,562,293 (GRCm39) |
N26D |
probably damaging |
Het |
| Lyst |
T |
A |
13: 13,900,629 (GRCm39) |
D3168E |
probably benign |
Het |
| Map6 |
G |
A |
7: 98,917,454 (GRCm39) |
A76T |
probably damaging |
Het |
| Mcoln3 |
A |
T |
3: 145,843,011 (GRCm39) |
|
probably null |
Het |
| Muc4 |
T |
C |
16: 32,587,312 (GRCm39) |
F2718L |
probably benign |
Het |
| Nek11 |
C |
G |
9: 105,270,256 (GRCm39) |
|
probably benign |
Het |
| Or10n7-ps1 |
T |
C |
9: 39,597,832 (GRCm39) |
E136G |
unknown |
Het |
| Or2z8 |
C |
A |
8: 72,811,574 (GRCm39) |
L17I |
probably benign |
Het |
| Or4d6 |
A |
G |
19: 12,086,490 (GRCm39) |
V140A |
probably benign |
Het |
| Pcdh15 |
A |
T |
10: 74,479,641 (GRCm39) |
E846V |
probably benign |
Het |
| Pcdhga8 |
C |
T |
18: 37,858,998 (GRCm39) |
T18M |
probably benign |
Het |
| Per3 |
T |
C |
4: 151,128,106 (GRCm39) |
M61V |
possibly damaging |
Het |
| Pfas |
C |
T |
11: 68,883,007 (GRCm39) |
R759Q |
probably benign |
Het |
| Pitpnm1 |
A |
G |
19: 4,156,947 (GRCm39) |
Y490C |
possibly damaging |
Het |
| Plcb4 |
A |
T |
2: 135,789,035 (GRCm39) |
I272F |
possibly damaging |
Het |
| Ppp1r3b |
A |
G |
8: 35,851,821 (GRCm39) |
Y220C |
probably damaging |
Het |
| Prkce |
G |
C |
17: 86,800,835 (GRCm39) |
G417A |
probably damaging |
Het |
| Ptar1 |
A |
G |
19: 23,680,501 (GRCm39) |
N106D |
probably damaging |
Het |
| Rbm15 |
C |
A |
3: 107,239,627 (GRCm39) |
R257L |
probably benign |
Het |
| Rptor |
T |
G |
11: 119,647,171 (GRCm39) |
M254R |
probably damaging |
Het |
| Runx1t1 |
T |
A |
4: 13,865,257 (GRCm39) |
W350R |
probably damaging |
Het |
| Ryr2 |
T |
G |
13: 11,760,487 (GRCm39) |
Y1532S |
probably damaging |
Het |
| Serpina1a |
C |
A |
12: 103,820,110 (GRCm39) |
V379L |
possibly damaging |
Het |
| Sox8 |
C |
T |
17: 25,786,888 (GRCm39) |
V272I |
probably damaging |
Het |
| Stard9 |
C |
T |
2: 120,533,111 (GRCm39) |
H3123Y |
probably benign |
Het |
| Taar9 |
C |
T |
10: 23,984,910 (GRCm39) |
E175K |
possibly damaging |
Het |
| Tinag |
T |
A |
9: 76,908,897 (GRCm39) |
Y348F |
probably damaging |
Het |
| Tktl2 |
T |
C |
8: 66,965,687 (GRCm39) |
I415T |
probably damaging |
Het |
| Tm7sf2 |
G |
T |
19: 6,118,342 (GRCm39) |
R718S |
probably damaging |
Het |
| Tmem229a |
G |
T |
6: 24,954,657 (GRCm39) |
Q366K |
probably benign |
Het |
| Txndc2 |
T |
C |
17: 65,945,286 (GRCm39) |
D297G |
probably benign |
Het |
| Ulk4 |
A |
G |
9: 121,087,886 (GRCm39) |
F269L |
probably benign |
Het |
| Vps39 |
A |
T |
2: 120,151,512 (GRCm39) |
Y738* |
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 |
|
|
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 |
|
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'- CAGGGACAAATCATGTGAATATTGG -3'
(R):5'- GCAGCTGCTCTCCATAGAAC -3'
Sequencing Primer
(F):5'- AGAGAGAAAACCCTGCTG -3'
(R):5'- CTGCTCTCCATAGAACATGAAGTGG -3'
|
| Posted On |
2019-05-30 |
Incidental Mutation