Incidental Mutation 'R7900:Dnm3'
| ID |
609925 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Dnm3
|
| Ensembl Gene |
ENSMUSG00000040265 |
| Gene Name |
dynamin 3 |
| Synonyms |
9630020E24Rik, B230343F03Rik |
| MMRRC Submission |
045952-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7900 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
161810022-162305603 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 162182940 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Phenylalanine
at position 125
(Y125F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000064538
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000070330]
[ENSMUST00000086074]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000070330
AA Change: Y125F
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000064538
Gene: ENSMUSG00000040265
AA Change: Y125F
| 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
AA Change: Y125F
PolyPhen 2
Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)
|
| SMART Domains |
Protein: ENSMUSP00000083241
Gene: ENSMUSG00000040265
AA Change: Y125F
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.5%
|
| Validation Efficiency |
100% (50/50) |
| 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: 50 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A530084C06Rik |
G |
T |
13: 31,742,978 (GRCm39) |
R92S |
unknown |
Het |
| Adamtsl5 |
A |
G |
10: 80,177,735 (GRCm39) |
F309S |
probably damaging |
Het |
| Ankle1 |
C |
T |
8: 71,860,061 (GRCm39) |
T213I |
probably damaging |
Het |
| C4b |
A |
G |
17: 34,958,751 (GRCm39) |
S528P |
probably benign |
Het |
| Camk2a |
A |
G |
18: 61,090,438 (GRCm39) |
Y222C |
probably damaging |
Het |
| Cnst |
A |
G |
1: 179,450,453 (GRCm39) |
D639G |
probably damaging |
Het |
| Ctbp2 |
A |
C |
7: 132,616,328 (GRCm39) |
S202R |
probably benign |
Het |
| Cwf19l2 |
G |
T |
9: 3,460,107 (GRCm39) |
L798F |
probably damaging |
Het |
| Cyp11a1 |
T |
A |
9: 57,923,667 (GRCm39) |
V124E |
possibly damaging |
Het |
| Ddx3y |
C |
T |
Y: 1,266,594 (GRCm39) |
|
probably null |
Het |
| Dlst |
G |
T |
12: 85,177,292 (GRCm39) |
R346L |
probably benign |
Het |
| Dnah2 |
A |
G |
11: 69,409,254 (GRCm39) |
S375P |
probably damaging |
Het |
| Dock9 |
C |
T |
14: 121,783,491 (GRCm39) |
A2011T |
possibly damaging |
Het |
| Efr3a |
T |
A |
15: 65,719,984 (GRCm39) |
|
probably null |
Het |
| Egln1 |
A |
T |
8: 125,640,879 (GRCm39) |
I319N |
possibly damaging |
Het |
| Gata3 |
T |
A |
2: 9,863,461 (GRCm39) |
N351I |
probably damaging |
Het |
| Gjd3 |
T |
C |
11: 102,690,920 (GRCm39) |
N361S |
probably benign |
Het |
| Gpcpd1 |
T |
C |
2: 132,376,659 (GRCm39) |
T546A |
probably damaging |
Het |
| Gpihbp1 |
T |
C |
15: 75,469,791 (GRCm39) |
F169L |
probably benign |
Het |
| Gpnmb |
A |
T |
6: 49,027,400 (GRCm39) |
I375L |
possibly damaging |
Het |
| Itpka |
A |
T |
2: 119,580,994 (GRCm39) |
T381S |
probably benign |
Het |
| Lhx4 |
T |
C |
1: 155,617,709 (GRCm39) |
|
probably benign |
Het |
| Lrguk |
T |
C |
6: 34,106,129 (GRCm39) |
L718P |
probably benign |
Het |
| Mmp1a |
TG |
TGG |
9: 7,465,083 (GRCm38) |
|
probably null |
Het |
| Nr1d1 |
T |
A |
11: 98,660,537 (GRCm39) |
T477S |
probably benign |
Het |
| Nxnl1 |
A |
T |
8: 72,019,170 (GRCm39) |
D18E |
probably damaging |
Het |
| Onecut2 |
G |
T |
18: 64,474,658 (GRCm39) |
R403L |
probably damaging |
Het |
| Or51v14 |
T |
C |
7: 103,260,900 (GRCm39) |
Y220C |
possibly damaging |
Het |
| Or5an1 |
T |
A |
19: 12,260,705 (GRCm39) |
C98S |
probably damaging |
Het |
| Pla2r1 |
T |
C |
2: 60,258,858 (GRCm39) |
T1177A |
possibly damaging |
Het |
| Prkd2 |
T |
C |
7: 16,587,269 (GRCm39) |
V405A |
probably benign |
Het |
| Ranbp1 |
T |
C |
16: 18,063,161 (GRCm39) |
T72A |
probably damaging |
Het |
| Retnla |
A |
C |
16: 48,663,977 (GRCm39) |
R90S |
probably benign |
Het |
| Sec31b |
A |
T |
19: 44,514,669 (GRCm39) |
I385N |
probably damaging |
Het |
| Slc6a19 |
C |
T |
13: 73,848,583 (GRCm39) |
R57H |
probably damaging |
Het |
| Smurf1 |
T |
C |
5: 144,836,183 (GRCm39) |
D110G |
probably damaging |
Het |
| Specc1 |
A |
G |
11: 62,110,187 (GRCm39) |
Y975C |
probably damaging |
Het |
| Tas2r136 |
T |
A |
6: 132,754,599 (GRCm39) |
N176I |
possibly damaging |
Het |
| Tecrl |
A |
C |
5: 83,427,188 (GRCm39) |
V320G |
probably benign |
Het |
| Tmem245 |
A |
G |
4: 56,924,973 (GRCm39) |
|
probably null |
Het |
| Tpd52l1 |
T |
A |
10: 31,214,178 (GRCm39) |
|
probably null |
Het |
| Trbv2 |
A |
G |
6: 41,024,908 (GRCm39) |
Y108C |
probably damaging |
Het |
| Trpm7 |
T |
C |
2: 126,639,418 (GRCm39) |
M1689V |
probably benign |
Het |
| Usp24 |
A |
G |
4: 106,266,597 (GRCm39) |
Y1855C |
probably damaging |
Het |
| Usp9y |
A |
T |
Y: 1,384,354 (GRCm39) |
S721R |
possibly damaging |
Het |
| Vwf |
G |
A |
6: 125,605,439 (GRCm39) |
|
probably null |
Het |
| Washc4 |
T |
A |
10: 83,409,637 (GRCm39) |
|
probably null |
Het |
| Yeats4 |
G |
A |
10: 117,056,464 (GRCm39) |
H71Y |
possibly damaging |
Het |
| Zbtb38 |
A |
C |
9: 96,570,989 (GRCm39) |
L32V |
probably damaging |
Het |
| Zfy1 |
T |
C |
Y: 725,519 (GRCm39) |
T749A |
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 |
|
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 |
|
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'- TTCAATTCCCAAGTCAATGACAAT -3'
(R):5'- TGACATAAATGCATGCATATCTCTAG -3'
Sequencing Primer
(F):5'- TGCCTTCCAGAAATATGCGG -3'
(R):5'- TCGACATGAGATCGAAGC -3'
|
| Posted On |
2019-12-20 |
Incidental Mutation