Incidental Mutation 'IGL02021:Dctn2'
| ID |
183988 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Dctn2
|
| Ensembl Gene |
ENSMUSG00000025410 |
| Gene Name |
dynactin 2 |
| Synonyms |
DCTN-50, C130077D06Rik, 2310042E05Rik, RBP50, p50 |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL02021
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
10 |
| Chromosomal Location |
127102237-127117819 bp(+) (GRCm39) |
| Type of Mutation |
critical splice donor site (2 bp from exon) |
| DNA Base Change (assembly) |
T to C
at 127110926 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000026479
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000026479]
|
| AlphaFold |
Q99KJ8 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000026479
|
| SMART Domains |
Protein: ENSMUSP00000026479
Gene: ENSMUSG00000025410
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Dynamitin
|
16 |
400 |
7.1e-129 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000218556
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000218752
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000220418
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a 50-kD subunit of dynactin, a macromolecular complex consisting of 10-11 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, chromosome movement, nuclear positioning, and axonogenesis. This subunit is present in 4-5 copies per dynactin molecule. It contains three short alpha-helical coiled-coil domains that may mediate association with self or other dynactin subunits. It may interact directly with the largest subunit (p150) of dynactin and may affix p150 in place. Multiple alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, May 2012]
|
| Allele List at MGI |
All alleles(28) : Targeted(3) Gene trapped(25)
|
| Other mutations in this stock |
Total: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1110002L01Rik |
G |
A |
12: 3,457,890 (GRCm39) |
|
probably benign |
Het |
| Adam10 |
C |
T |
9: 70,651,191 (GRCm39) |
T72I |
possibly damaging |
Het |
| Adam26b |
T |
A |
8: 43,972,909 (GRCm39) |
M698L |
probably benign |
Het |
| Ankrd27 |
A |
T |
7: 35,313,881 (GRCm39) |
H404L |
probably damaging |
Het |
| Atp1a1 |
T |
C |
3: 101,501,524 (GRCm39) |
S60G |
probably benign |
Het |
| Bcat1 |
T |
C |
6: 144,993,015 (GRCm39) |
|
probably benign |
Het |
| Cd177 |
G |
A |
7: 24,444,631 (GRCm39) |
A650V |
probably benign |
Het |
| Cmya5 |
T |
C |
13: 93,231,057 (GRCm39) |
N1344D |
probably benign |
Het |
| Ctsd |
G |
T |
7: 141,939,213 (GRCm39) |
L71I |
probably damaging |
Het |
| Ddr1 |
G |
A |
17: 35,994,372 (GRCm39) |
A801V |
probably damaging |
Het |
| Dennd2b |
T |
C |
7: 109,156,579 (GRCm39) |
Y57C |
probably damaging |
Het |
| Duoxa1 |
A |
G |
2: 122,135,127 (GRCm39) |
F251S |
probably benign |
Het |
| Fcho1 |
A |
C |
8: 72,173,919 (GRCm39) |
S2A |
probably benign |
Het |
| Gm4861 |
T |
C |
3: 137,257,871 (GRCm39) |
|
probably null |
Het |
| Gm4922 |
C |
A |
10: 18,660,225 (GRCm39) |
G166W |
probably damaging |
Het |
| Hic2 |
A |
G |
16: 17,076,617 (GRCm39) |
E482G |
probably benign |
Het |
| Hoxa5 |
C |
T |
6: 52,179,637 (GRCm39) |
R246K |
probably damaging |
Het |
| Ipo11 |
A |
T |
13: 106,993,745 (GRCm39) |
F721I |
probably damaging |
Het |
| Lama1 |
A |
T |
17: 68,128,621 (GRCm39) |
S2993C |
probably damaging |
Het |
| Lonp2 |
T |
A |
8: 87,435,599 (GRCm39) |
S612T |
probably benign |
Het |
| Lpar5 |
T |
G |
6: 125,058,955 (GRCm39) |
Y225* |
probably null |
Het |
| Map4k3 |
A |
G |
17: 80,917,255 (GRCm39) |
Y574H |
probably damaging |
Het |
| Msantd4 |
A |
G |
9: 4,385,163 (GRCm39) |
E296G |
probably damaging |
Het |
| Ncs1 |
A |
G |
2: 31,174,177 (GRCm39) |
D109G |
probably damaging |
Het |
| Nnt |
T |
C |
13: 119,472,783 (GRCm39) |
|
probably benign |
Het |
| Nr1h5 |
T |
C |
3: 102,855,058 (GRCm39) |
|
probably benign |
Het |
| Or2ag20 |
A |
T |
7: 106,464,696 (GRCm39) |
K170* |
probably null |
Het |
| Or4g7 |
A |
G |
2: 111,309,825 (GRCm39) |
D232G |
probably benign |
Het |
| Plk4 |
A |
G |
3: 40,765,143 (GRCm39) |
D595G |
probably damaging |
Het |
| Rbm17 |
C |
A |
2: 11,600,249 (GRCm39) |
|
probably benign |
Het |
| Slc24a3 |
T |
A |
2: 145,360,836 (GRCm39) |
I193N |
probably damaging |
Het |
| Stat5a |
G |
T |
11: 100,774,715 (GRCm39) |
V759F |
probably damaging |
Het |
| Tgfbi |
T |
A |
13: 56,779,166 (GRCm39) |
L463Q |
probably damaging |
Het |
| Tigar |
G |
T |
6: 127,066,253 (GRCm39) |
A95E |
probably damaging |
Het |
| Tph1 |
A |
G |
7: 46,306,421 (GRCm39) |
I180T |
possibly damaging |
Het |
| Usp22 |
T |
A |
11: 61,045,325 (GRCm39) |
Y517F |
probably damaging |
Het |
| Vmn2r105 |
A |
C |
17: 20,448,157 (GRCm39) |
I222M |
possibly damaging |
Het |
| Wapl |
A |
G |
14: 34,444,293 (GRCm39) |
I582V |
probably benign |
Het |
| Zfp217 |
A |
G |
2: 169,957,069 (GRCm39) |
V643A |
probably benign |
Het |
|
| Other mutations in Dctn2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00334:Dctn2
|
APN |
10 |
127,113,559 (GRCm39) |
unclassified |
probably benign |
|
|
IGL01749:Dctn2
|
APN |
10 |
127,117,286 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
IGL01797:Dctn2
|
APN |
10 |
127,113,182 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
IGL02335:Dctn2
|
APN |
10 |
127,111,690 (GRCm39) |
splice site |
probably benign |
|
|
IGL02748:Dctn2
|
APN |
10 |
127,113,142 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03382:Dctn2
|
APN |
10 |
127,114,057 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0069:Dctn2
|
UTSW |
10 |
127,113,354 (GRCm39) |
splice site |
probably null |
|
|
R0069:Dctn2
|
UTSW |
10 |
127,113,354 (GRCm39) |
splice site |
probably null |
|
|
R0621:Dctn2
|
UTSW |
10 |
127,113,809 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1114:Dctn2
|
UTSW |
10 |
127,114,011 (GRCm39) |
splice site |
probably null |
|
|
R1917:Dctn2
|
UTSW |
10 |
127,110,918 (GRCm39) |
nonsense |
probably null |
|
|
R2238:Dctn2
|
UTSW |
10 |
127,112,257 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R4097:Dctn2
|
UTSW |
10 |
127,113,362 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4418:Dctn2
|
UTSW |
10 |
127,114,234 (GRCm39) |
missense |
probably benign |
0.24 |
|
R4972:Dctn2
|
UTSW |
10 |
127,112,572 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6873:Dctn2
|
UTSW |
10 |
127,112,105 (GRCm39) |
splice site |
probably null |
|
|
R7533:Dctn2
|
UTSW |
10 |
127,103,347 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R7557:Dctn2
|
UTSW |
10 |
127,114,273 (GRCm39) |
missense |
probably benign |
0.44 |
|
R7657:Dctn2
|
UTSW |
10 |
127,102,383 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8218:Dctn2
|
UTSW |
10 |
127,112,398 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R8557:Dctn2
|
UTSW |
10 |
127,114,062 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9344:Dctn2
|
UTSW |
10 |
127,114,084 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2014-05-07 |
Incidental Mutation