Incidental Mutation 'R7711:Dnm3'
| ID |
594580 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Dnm3
|
| Ensembl Gene |
ENSMUSG00000040265 |
| Gene Name |
dynamin 3 |
| Synonyms |
9630020E24Rik, B230343F03Rik |
| MMRRC Submission |
045769-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7711 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
1 |
| Chromosomal Location |
161810022-162305603 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 161819622 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Asparagine
at position 850
(I850N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000064538
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000070330]
[ENSMUST00000086074]
[ENSMUST00000159763]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000070330
AA Change: I850N
PolyPhen 2
Score 0.827 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000064538
Gene: ENSMUSG00000040265
AA Change: I850N
| 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: I854N
PolyPhen 2
Score 0.734 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000083241
Gene: ENSMUSG00000040265
AA Change: I854N
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.2%
|
| Validation Efficiency |
|
| 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: 73 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 6430548M08Rik |
G |
A |
8: 120,886,723 (GRCm39) |
E342K |
possibly damaging |
Het |
| 9430015G10Rik |
T |
G |
4: 156,203,649 (GRCm39) |
V34G |
probably damaging |
Het |
| Alkbh3 |
T |
C |
2: 93,838,437 (GRCm39) |
S44G |
probably benign |
Het |
| Alpk2 |
A |
T |
18: 65,439,555 (GRCm39) |
C613S |
probably benign |
Het |
| Aplp2 |
G |
A |
9: 31,072,645 (GRCm39) |
R488C |
probably damaging |
Het |
| Arid1b |
A |
G |
17: 5,387,095 (GRCm39) |
N1463S |
probably benign |
Het |
| Atxn2l |
A |
T |
7: 126,100,441 (GRCm39) |
L125Q |
probably damaging |
Het |
| Cd3d |
A |
G |
9: 44,897,634 (GRCm39) |
K172E |
probably benign |
Het |
| Chd7 |
T |
A |
4: 8,805,234 (GRCm39) |
D764E |
probably benign |
Het |
| Col19a1 |
T |
C |
1: 24,569,089 (GRCm39) |
I220V |
unknown |
Het |
| Cpq |
T |
C |
15: 33,497,493 (GRCm39) |
I411T |
probably benign |
Het |
| Crybg2 |
C |
A |
4: 133,792,844 (GRCm39) |
H160N |
probably benign |
Het |
| Cryl1 |
A |
T |
14: 57,513,013 (GRCm39) |
C285S |
probably benign |
Het |
| Dapk1 |
A |
G |
13: 60,909,365 (GRCm39) |
D1326G |
probably damaging |
Het |
| Dgkh |
A |
G |
14: 78,962,459 (GRCm39) |
V24A |
probably benign |
Het |
| Dnajb4 |
A |
C |
3: 151,892,154 (GRCm39) |
S226R |
probably benign |
Het |
| Dtna |
G |
T |
18: 23,758,253 (GRCm39) |
|
probably null |
Het |
| Efcab6 |
G |
T |
15: 83,834,125 (GRCm39) |
D494E |
probably benign |
Het |
| Fam169a |
G |
T |
13: 97,263,196 (GRCm39) |
E550* |
probably null |
Het |
| Fbxw7 |
A |
G |
3: 84,832,988 (GRCm39) |
N10S |
probably benign |
Het |
| Flrt2 |
T |
C |
12: 95,747,528 (GRCm39) |
F622S |
probably damaging |
Het |
| Gprc5d |
G |
A |
6: 135,093,355 (GRCm39) |
T184I |
possibly damaging |
Het |
| Grem2 |
A |
G |
1: 174,664,693 (GRCm39) |
V52A |
probably damaging |
Het |
| Gtf3c2 |
G |
T |
5: 31,327,533 (GRCm39) |
T310N |
probably damaging |
Het |
| H2-T13 |
T |
A |
17: 36,394,770 (GRCm39) |
N51I |
probably damaging |
Het |
| Hyou1 |
A |
G |
9: 44,295,759 (GRCm39) |
D338G |
possibly damaging |
Het |
| Ifna6 |
T |
C |
4: 88,745,971 (GRCm39) |
S107P |
probably benign |
Het |
| Kif14 |
G |
T |
1: 136,399,191 (GRCm39) |
G451C |
probably benign |
Het |
| Kit |
T |
A |
5: 75,798,019 (GRCm39) |
F436I |
probably damaging |
Het |
| Lonp2 |
G |
A |
8: 87,440,636 (GRCm39) |
C751Y |
probably damaging |
Het |
| Lonrf1 |
C |
A |
8: 36,716,375 (GRCm39) |
G87C |
probably damaging |
Het |
| Lrp2 |
T |
C |
2: 69,309,687 (GRCm39) |
|
probably null |
Het |
| Lrrc37 |
G |
T |
11: 103,505,738 (GRCm39) |
Q2077K |
probably benign |
Het |
| Mkln1 |
A |
G |
6: 31,469,584 (GRCm39) |
H598R |
probably damaging |
Het |
| Mmaa |
T |
C |
8: 79,994,774 (GRCm39) |
H344R |
probably benign |
Het |
| Myh7 |
C |
G |
14: 55,226,258 (GRCm39) |
D461H |
probably damaging |
Het |
| Myh7b |
T |
G |
2: 155,462,323 (GRCm39) |
L342R |
probably damaging |
Het |
| Or12e8 |
A |
G |
2: 87,187,871 (GRCm39) |
N28D |
probably benign |
Het |
| Or2h2b-ps1 |
C |
T |
17: 37,480,847 (GRCm39) |
G129R |
probably damaging |
Het |
| Or4f4-ps1 |
T |
A |
2: 111,330,497 (GRCm39) |
I300K |
probably damaging |
Het |
| Or7e178 |
A |
T |
9: 20,225,319 (GRCm39) |
V299E |
possibly damaging |
Het |
| Pcsk5 |
T |
A |
19: 17,416,444 (GRCm39) |
Y1668F |
possibly damaging |
Het |
| Pfn4 |
C |
T |
12: 4,824,414 (GRCm39) |
T47I |
possibly damaging |
Het |
| Pklr |
T |
C |
3: 89,048,649 (GRCm39) |
L104P |
probably damaging |
Het |
| Plcxd2 |
A |
G |
16: 45,800,693 (GRCm39) |
V177A |
probably benign |
Het |
| Pramel16 |
T |
C |
4: 143,675,822 (GRCm39) |
S335G |
probably benign |
Het |
| Prdm10 |
G |
T |
9: 31,268,528 (GRCm39) |
A826S |
probably damaging |
Het |
| Prrt4 |
A |
G |
6: 29,177,455 (GRCm39) |
S105P |
probably benign |
Het |
| Prss51 |
T |
A |
14: 64,334,937 (GRCm39) |
V164E |
probably damaging |
Het |
| Psap |
T |
C |
10: 60,135,634 (GRCm39) |
V360A |
probably damaging |
Het |
| Psg22 |
T |
C |
7: 18,452,267 (GRCm39) |
|
probably null |
Het |
| Qrfprl |
A |
G |
6: 65,418,357 (GRCm39) |
H23R |
|
Het |
| Rad51 |
A |
G |
2: 118,962,071 (GRCm39) |
Q206R |
probably benign |
Het |
| Rap1gds1 |
T |
C |
3: 138,664,874 (GRCm39) |
K277R |
probably benign |
Het |
| Rassf2 |
T |
A |
2: 131,847,297 (GRCm39) |
T103S |
probably benign |
Het |
| Rbm15b |
T |
A |
9: 106,763,142 (GRCm39) |
H342L |
possibly damaging |
Het |
| Rsf1 |
G |
GACCGCGGCC |
7: 97,229,116 (GRCm39) |
|
probably benign |
Het |
| Scaf8 |
T |
C |
17: 3,237,909 (GRCm39) |
F561L |
probably damaging |
Het |
| Scn1a |
G |
A |
2: 66,134,004 (GRCm39) |
A130V |
probably benign |
Het |
| Scn7a |
T |
C |
2: 66,531,221 (GRCm39) |
E552G |
probably damaging |
Het |
| Slc39a14 |
T |
A |
14: 70,551,124 (GRCm39) |
R183W |
probably damaging |
Het |
| Slfn1 |
A |
T |
11: 83,012,089 (GRCm39) |
K68N |
possibly damaging |
Het |
| Slx4ip |
A |
G |
2: 136,909,914 (GRCm39) |
D303G |
probably damaging |
Het |
| Snx17 |
T |
A |
5: 31,352,804 (GRCm39) |
F101Y |
probably damaging |
Het |
| Spata31e3 |
T |
G |
13: 50,401,131 (GRCm39) |
R398S |
probably benign |
Het |
| Specc1l |
C |
A |
10: 75,066,642 (GRCm39) |
N30K |
probably benign |
Het |
| Spmip2 |
A |
G |
3: 79,313,167 (GRCm39) |
I80M |
probably damaging |
Het |
| Tbx19 |
A |
G |
1: 164,966,768 (GRCm39) |
S369P |
probably benign |
Het |
| Usp17ld |
T |
C |
7: 102,899,489 (GRCm39) |
H481R |
probably damaging |
Het |
| Wnt2 |
A |
G |
6: 17,990,036 (GRCm39) |
L287P |
probably benign |
Het |
| Zfhx4 |
G |
T |
3: 5,462,016 (GRCm39) |
M1230I |
probably damaging |
Het |
| Zfp1 |
T |
C |
8: 112,396,794 (GRCm39) |
C272R |
not run |
Het |
| Zfp458 |
A |
G |
13: 67,407,664 (GRCm39) |
S64P |
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 |
|
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'- TACCATGAGCAATGAAGATGAGTTG -3'
(R):5'- TACCCCGATGACTCAGAGAG -3'
Sequencing Primer
(F):5'- TTGGTGAACACATTAGTAAGACTGGC -3'
(R):5'- AGTCTGAGAGTCGCTGCAG -3'
|
| Posted On |
2019-11-12 |
Incidental Mutation