Incidental Mutation 'R6110:Dnm3'
ID |
484759 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Dnm3
|
Ensembl Gene |
ENSMUSG00000040265 |
Gene Name |
dynamin 3 |
Synonyms |
9630020E24Rik, B230343F03Rik |
MMRRC Submission |
044428-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R6110 (G1)
|
Quality Score |
217.468 |
Status
|
Validated
|
Chromosome |
1 |
Chromosomal Location |
161810022-162305603 bp(-) (GRCm39) |
Type of Mutation |
small deletion (5 aa in frame mutation) |
DNA Base Change (assembly) |
CAGCCTTCGTTGGGTG to C
at 161838637 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000124593
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000070330]
[ENSMUST00000086074]
[ENSMUST00000159763]
[ENSMUST00000160665]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably benign
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 benign
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 benign
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 benign
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 |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.8%
- 20x: 93.7%
|
Validation Efficiency |
100% (60/60) |
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: 59 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Actl7b |
T |
C |
4: 56,740,224 (GRCm39) |
E378G |
probably damaging |
Het |
Adam17 |
A |
T |
12: 21,403,949 (GRCm39) |
V99E |
probably damaging |
Het |
Alkal2 |
G |
A |
12: 30,937,057 (GRCm39) |
R90Q |
probably damaging |
Het |
Amy1 |
C |
T |
3: 113,355,549 (GRCm39) |
V309M |
probably damaging |
Het |
Apob |
T |
C |
12: 8,061,883 (GRCm39) |
L3455P |
probably damaging |
Het |
Ash1l |
T |
A |
3: 88,892,436 (GRCm39) |
H1438Q |
probably damaging |
Het |
BC024139 |
A |
G |
15: 76,003,996 (GRCm39) |
S757P |
probably benign |
Het |
Btd |
G |
A |
14: 31,363,065 (GRCm39) |
|
probably benign |
Het |
C2cd3 |
T |
A |
7: 100,090,283 (GRCm39) |
F462Y |
probably damaging |
Het |
C4bp |
T |
A |
1: 130,566,809 (GRCm39) |
K177* |
probably null |
Het |
Cacna1h |
G |
T |
17: 25,610,250 (GRCm39) |
P752Q |
probably benign |
Het |
Cd34 |
G |
A |
1: 194,631,877 (GRCm39) |
|
probably null |
Het |
Cimap1a |
G |
T |
7: 140,428,554 (GRCm39) |
R73L |
possibly damaging |
Het |
Clptm1 |
G |
A |
7: 19,367,731 (GRCm39) |
|
probably benign |
Het |
Dip2c |
T |
C |
13: 9,673,802 (GRCm39) |
S1081P |
probably damaging |
Het |
Efcab6 |
T |
G |
15: 83,763,835 (GRCm39) |
M1166L |
possibly damaging |
Het |
Fam151a |
G |
A |
4: 106,605,395 (GRCm39) |
V586M |
probably damaging |
Het |
Fap |
T |
G |
2: 62,385,114 (GRCm39) |
Y54S |
possibly damaging |
Het |
Grhl1 |
A |
G |
12: 24,630,746 (GRCm39) |
|
probably null |
Het |
Hcrtr2 |
T |
C |
9: 76,167,064 (GRCm39) |
Y91C |
probably damaging |
Het |
Ift70b |
T |
C |
2: 75,768,144 (GRCm39) |
Y203C |
probably damaging |
Het |
Kat6b |
C |
T |
14: 21,720,555 (GRCm39) |
R1745C |
probably damaging |
Het |
Kdm5a |
T |
C |
6: 120,389,267 (GRCm39) |
L898P |
probably damaging |
Het |
Lipo5 |
T |
C |
19: 33,445,317 (GRCm39) |
Q84R |
unknown |
Het |
Mfn1 |
G |
A |
3: 32,617,173 (GRCm39) |
M18I |
probably benign |
Het |
Mptx2 |
G |
A |
1: 173,102,414 (GRCm39) |
L92F |
probably benign |
Het |
Mtfmt |
T |
C |
9: 65,354,586 (GRCm39) |
|
probably null |
Het |
Nsun2 |
C |
G |
13: 69,775,767 (GRCm39) |
Q404E |
probably benign |
Het |
Or1j17 |
T |
C |
2: 36,578,559 (GRCm39) |
S182P |
probably benign |
Het |
Or2at4 |
C |
T |
7: 99,384,377 (GRCm39) |
S9L |
possibly damaging |
Het |
Or52d1 |
A |
G |
7: 103,755,779 (GRCm39) |
M98V |
probably damaging |
Het |
Or5b123 |
C |
T |
19: 13,597,249 (GRCm39) |
A241V |
probably benign |
Het |
Or5j3 |
T |
A |
2: 86,129,019 (GRCm39) |
N286K |
probably damaging |
Het |
Or5p70 |
G |
T |
7: 107,995,035 (GRCm39) |
S236I |
possibly damaging |
Het |
Or6c215 |
G |
A |
10: 129,637,689 (GRCm39) |
A235V |
probably damaging |
Het |
Or6c215 |
C |
A |
10: 129,637,690 (GRCm39) |
A235S |
probably damaging |
Het |
Parp9 |
A |
G |
16: 35,773,996 (GRCm39) |
I90V |
possibly damaging |
Het |
Pate7 |
A |
T |
9: 35,688,442 (GRCm39) |
S48T |
possibly damaging |
Het |
Pax2 |
T |
A |
19: 44,779,175 (GRCm39) |
S183T |
probably damaging |
Het |
Pcdha11 |
T |
C |
18: 37,144,509 (GRCm39) |
L200P |
probably damaging |
Het |
Pcdhb4 |
T |
C |
18: 37,441,482 (GRCm39) |
V264A |
possibly damaging |
Het |
Plch1 |
G |
T |
3: 63,606,279 (GRCm39) |
N1199K |
possibly damaging |
Het |
Ptpn22 |
A |
G |
3: 103,819,331 (GRCm39) |
N795S |
probably damaging |
Het |
Qars1 |
T |
C |
9: 108,385,297 (GRCm39) |
S6P |
probably benign |
Het |
Sema3a |
T |
C |
5: 13,630,969 (GRCm39) |
Y502H |
probably damaging |
Het |
Sema4f |
A |
G |
6: 82,914,085 (GRCm39) |
I91T |
probably damaging |
Het |
Setx |
T |
G |
2: 29,030,302 (GRCm39) |
I247S |
probably damaging |
Het |
Slc9c1 |
T |
C |
16: 45,395,731 (GRCm39) |
L594P |
probably damaging |
Het |
Tnfrsf19 |
A |
T |
14: 61,208,588 (GRCm39) |
M311K |
probably benign |
Het |
Tubgcp4 |
T |
C |
2: 121,024,589 (GRCm39) |
I588T |
probably benign |
Het |
Tyro3 |
T |
C |
2: 119,643,304 (GRCm39) |
V655A |
probably damaging |
Het |
Uba7 |
T |
A |
9: 107,856,138 (GRCm39) |
D504E |
probably benign |
Het |
Vav3 |
C |
T |
3: 109,571,681 (GRCm39) |
T201M |
probably damaging |
Het |
Vldlr |
A |
G |
19: 27,215,477 (GRCm39) |
E117G |
possibly damaging |
Het |
Vmn2r44 |
A |
T |
7: 8,381,005 (GRCm39) |
I296K |
probably damaging |
Het |
Vmn2r80 |
T |
A |
10: 79,017,837 (GRCm39) |
C521S |
probably damaging |
Het |
Wnk1 |
A |
T |
6: 119,949,958 (GRCm39) |
|
probably benign |
Het |
Xpo1 |
T |
C |
11: 23,237,434 (GRCm39) |
S766P |
probably damaging |
Het |
Zcchc4 |
A |
G |
5: 52,953,486 (GRCm39) |
N165S |
possibly 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 |
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 |
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'- CTTACCTTGGAACACTGGGG -3'
(R):5'- CAATTGTTATTGTCTCCAGAGGGTG -3'
Sequencing Primer
(F):5'- CTGCTGTTGGGAAAAGGA -3'
(R):5'- CCAGAGGGTGGGATGAAGG -3'
|
Posted On |
2017-08-16 |