Incidental Mutation 'R3427:Dctn3'
| ID |
267910 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Dctn3
|
| Ensembl Gene |
ENSMUSG00000028447 |
| Gene Name |
dynactin 3 |
| Synonyms |
p24 |
| MMRRC Submission |
040645-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.963)
|
| Stock # |
R3427 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
4 |
| Chromosomal Location |
41714798-41723170 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 41719858 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Glutamic Acid
at position 83
(K83E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000130988
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030158]
[ENSMUST00000084698]
[ENSMUST00000108041]
[ENSMUST00000150809]
[ENSMUST00000171251]
[ENSMUST00000171641]
|
| AlphaFold |
Q9Z0Y1 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000030158
AA Change: K83E
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000030158
Gene: ENSMUSG00000028447
AA Change: K83E
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Dynactin_p22
|
6 |
170 |
2.8e-61 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000084698
|
| SMART Domains |
Protein: ENSMUSP00000081748
Gene: ENSMUSG00000066224
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
3 |
14 |
N/A |
INTRINSIC |
|
low complexity region
|
18 |
32 |
N/A |
INTRINSIC |
|
low complexity region
|
41 |
71 |
N/A |
INTRINSIC |
|
ARID
|
107 |
198 |
5.47e-35 |
SMART |
|
BRIGHT
|
111 |
203 |
3.7e-39 |
SMART |
|
low complexity region
|
235 |
257 |
N/A |
INTRINSIC |
|
Blast:ARID
|
283 |
327 |
2e-12 |
BLAST |
|
low complexity region
|
387 |
409 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000108041
|
| SMART Domains |
Protein: ENSMUSP00000103676
Gene: ENSMUSG00000073889
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
22 |
N/A |
INTRINSIC |
|
IG
|
33 |
108 |
5.75e-4 |
SMART |
|
FN3
|
112 |
204 |
2.18e-2 |
SMART |
|
FN3
|
218 |
304 |
4.93e-1 |
SMART |
|
low complexity region
|
354 |
365 |
N/A |
INTRINSIC |
|
transmembrane domain
|
369 |
391 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000147120
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000150809
|
| SMART Domains |
Protein: ENSMUSP00000116411
Gene: ENSMUSG00000066224
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
3 |
14 |
N/A |
INTRINSIC |
|
low complexity region
|
18 |
32 |
N/A |
INTRINSIC |
|
low complexity region
|
41 |
71 |
N/A |
INTRINSIC |
|
ARID
|
107 |
198 |
5.47e-35 |
SMART |
|
BRIGHT
|
111 |
203 |
3.7e-39 |
SMART |
|
low complexity region
|
235 |
257 |
N/A |
INTRINSIC |
|
Blast:ARID
|
283 |
327 |
2e-12 |
BLAST |
|
low complexity region
|
357 |
379 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000171251
|
| SMART Domains |
Protein: ENSMUSP00000127678
Gene: ENSMUSG00000066224
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
3 |
14 |
N/A |
INTRINSIC |
|
low complexity region
|
18 |
32 |
N/A |
INTRINSIC |
|
low complexity region
|
41 |
71 |
N/A |
INTRINSIC |
|
ARID
|
107 |
198 |
5.47e-35 |
SMART |
|
BRIGHT
|
111 |
203 |
3.7e-39 |
SMART |
|
low complexity region
|
235 |
257 |
N/A |
INTRINSIC |
|
Blast:ARID
|
283 |
327 |
2e-12 |
BLAST |
|
low complexity region
|
387 |
409 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000171641
AA Change: K83E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000130988
Gene: ENSMUSG00000028447
AA Change: K83E
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Dynactin_p22
|
1 |
149 |
1.4e-63 |
PFAM |
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 94.9%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes the smallest subunit of dynactin, a macromolecular complex consisting of 10 subunits ranging in size from 22 to 150 kD. Dynactin binds to both microtubules and cytoplasmic dynein. It is involved in a diverse array of cellular functions, including ER-to-Golgi transport, the centripetal movement of lysosomes and endosomes, spindle formation, cytokinesis, chromosome movement, nuclear positioning, and axonogenesis. This subunit, like most other dynactin subunits, exists only as a part of the dynactin complex. It is primarily an alpha-helical protein with very little coiled coil, and binds directly to the largest subunit (p150) of dynactin. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Actl11 |
T |
A |
9: 107,806,969 (GRCm39) |
F431I |
probably damaging |
Het |
| Asb18 |
C |
T |
1: 89,896,315 (GRCm39) |
G242S |
probably damaging |
Het |
| Atp13a3 |
T |
C |
16: 30,163,411 (GRCm39) |
I582V |
probably benign |
Het |
| BC034090 |
T |
C |
1: 155,117,244 (GRCm39) |
I291M |
probably benign |
Het |
| Bsph1 |
T |
C |
7: 13,206,168 (GRCm39) |
Y78H |
probably damaging |
Het |
| Chd6 |
G |
T |
2: 160,832,175 (GRCm39) |
T999N |
probably damaging |
Het |
| Cps1 |
T |
A |
1: 67,213,653 (GRCm39) |
V795E |
probably damaging |
Het |
| Crhr1 |
A |
G |
11: 104,064,419 (GRCm39) |
|
probably null |
Het |
| Crygs |
C |
T |
16: 22,624,301 (GRCm39) |
G102D |
possibly damaging |
Het |
| Ctbp2 |
A |
T |
7: 132,593,321 (GRCm39) |
H793Q |
probably damaging |
Het |
| Cul5 |
T |
C |
9: 53,529,190 (GRCm39) |
M805V |
probably benign |
Het |
| Ep300 |
A |
G |
15: 81,485,480 (GRCm39) |
N156D |
unknown |
Het |
| Epb42 |
A |
T |
2: 120,860,520 (GRCm39) |
L160M |
probably damaging |
Het |
| Exosc2 |
T |
C |
2: 31,569,900 (GRCm39) |
L237P |
probably damaging |
Het |
| Fiz1 |
A |
G |
7: 5,015,708 (GRCm39) |
F94S |
probably damaging |
Het |
| Gm5422 |
A |
G |
10: 31,124,842 (GRCm39) |
|
noncoding transcript |
Het |
| Igsf9b |
T |
C |
9: 27,245,873 (GRCm39) |
F1280S |
probably damaging |
Het |
| Igtp |
G |
A |
11: 58,097,419 (GRCm39) |
V197I |
probably damaging |
Het |
| Kcnh1 |
T |
C |
1: 191,924,238 (GRCm39) |
F151L |
probably benign |
Het |
| Nudc |
C |
T |
4: 133,261,568 (GRCm39) |
G239S |
probably benign |
Het |
| Or6c215 |
T |
C |
10: 129,637,720 (GRCm39) |
K225E |
possibly damaging |
Het |
| Plekhb1 |
T |
C |
7: 100,294,857 (GRCm39) |
Y172C |
probably damaging |
Het |
| Plscr4 |
T |
C |
9: 92,370,797 (GRCm39) |
S255P |
probably damaging |
Het |
| Rbm26 |
A |
G |
14: 105,368,968 (GRCm39) |
V737A |
probably damaging |
Het |
| Rps6ka4 |
C |
A |
19: 6,815,123 (GRCm39) |
|
probably null |
Het |
| Rsf1 |
GCG |
GCGACGGCGTCG |
7: 97,229,114 (GRCm39) |
|
probably benign |
Het |
| Rttn |
G |
A |
18: 89,113,775 (GRCm39) |
|
probably null |
Het |
| Slc22a5 |
A |
G |
11: 53,760,152 (GRCm39) |
V388A |
probably benign |
Het |
| Strip1 |
T |
C |
3: 107,524,138 (GRCm39) |
H593R |
possibly damaging |
Het |
| Sycp1 |
A |
T |
3: 102,783,666 (GRCm39) |
C603S |
probably benign |
Het |
| Tmem181a |
T |
A |
17: 6,346,061 (GRCm39) |
L185H |
probably damaging |
Het |
| Tns2 |
C |
T |
15: 102,017,369 (GRCm39) |
R281C |
probably damaging |
Het |
| Trpc1 |
C |
T |
9: 95,614,249 (GRCm39) |
R5Q |
probably benign |
Het |
| Trpv3 |
A |
T |
11: 73,176,767 (GRCm39) |
Y382F |
probably damaging |
Het |
| Unc80 |
G |
A |
1: 66,678,464 (GRCm39) |
V2082I |
probably benign |
Het |
| Vmn2r63 |
A |
G |
7: 42,576,406 (GRCm39) |
F469S |
probably benign |
Het |
|
| Other mutations in Dctn3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01462:Dctn3
|
APN |
4 |
41,719,854 (GRCm39) |
nonsense |
probably null |
|
|
IGL03000:Dctn3
|
APN |
4 |
41,719,912 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R1687:Dctn3
|
UTSW |
4 |
41,715,407 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1835:Dctn3
|
UTSW |
4 |
41,720,813 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2164:Dctn3
|
UTSW |
4 |
41,723,065 (GRCm39) |
nonsense |
probably null |
|
|
R4801:Dctn3
|
UTSW |
4 |
41,719,904 (GRCm39) |
nonsense |
probably null |
|
|
R4802:Dctn3
|
UTSW |
4 |
41,719,904 (GRCm39) |
nonsense |
probably null |
|
|
R5617:Dctn3
|
UTSW |
4 |
41,716,407 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
R5979:Dctn3
|
UTSW |
4 |
41,715,393 (GRCm39) |
splice site |
probably null |
|
|
R6545:Dctn3
|
UTSW |
4 |
41,723,084 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R6819:Dctn3
|
UTSW |
4 |
41,715,259 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R8951:Dctn3
|
UTSW |
4 |
41,719,845 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGCTGACTACGAATCCCACC -3'
(R):5'- CGCCCCAACTGTCATTTAAC -3'
Sequencing Primer
(F):5'- CCACCTTGGGCCTTAGTCC -3'
(R):5'- TGTAGTCCCAGGGATCAAACTCAG -3'
|
| Posted On |
2015-02-18 |
Incidental Mutation