Incidental Mutation 'R5494:Dctn1'
| ID |
432232 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Dctn1
|
| Ensembl Gene |
ENSMUSG00000031865 |
| Gene Name |
dynactin 1 |
| Synonyms |
p150, Glued, p150 |
| MMRRC Submission |
043055-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R5494 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
6 |
| Chromosomal Location |
83142902-83177099 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 83159546 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Leucine
at position 8
(R8L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000076623
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000077407]
[ENSMUST00000113907]
[ENSMUST00000113913]
[ENSMUST00000113918]
[ENSMUST00000113919]
[ENSMUST00000130212]
[ENSMUST00000141680]
|
| AlphaFold |
O08788 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000077407
AA Change: R8L
PolyPhen 2
Score 0.888 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000076623
Gene: ENSMUSG00000031865
AA Change: R8L
| Domain | Start | End | E-Value | Type |
|---|
|
CAP_GLY
|
12 |
78 |
5.52e-31 |
SMART |
|
low complexity region
|
124 |
147 |
N/A |
INTRINSIC |
|
low complexity region
|
148 |
177 |
N/A |
INTRINSIC |
|
SCOP:d1fxkc_
|
185 |
337 |
3e-3 |
SMART |
|
low complexity region
|
363 |
379 |
N/A |
INTRINSIC |
|
Pfam:Dynactin
|
489 |
768 |
8.2e-91 |
PFAM |
|
low complexity region
|
800 |
820 |
N/A |
INTRINSIC |
|
coiled coil region
|
914 |
1009 |
N/A |
INTRINSIC |
|
low complexity region
|
1025 |
1043 |
N/A |
INTRINSIC |
|
coiled coil region
|
1143 |
1172 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000113907
|
| SMART Domains |
Protein: ENSMUSP00000109540
Gene: ENSMUSG00000031865
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
5 |
22 |
N/A |
INTRINSIC |
|
low complexity region
|
27 |
50 |
N/A |
INTRINSIC |
|
low complexity region
|
51 |
80 |
N/A |
INTRINSIC |
|
low complexity region
|
93 |
106 |
N/A |
INTRINSIC |
|
low complexity region
|
140 |
158 |
N/A |
INTRINSIC |
|
SCOP:d1lxa__
|
271 |
345 |
8e-3 |
SMART |
|
Pfam:Dynactin
|
392 |
671 |
7.1e-91 |
PFAM |
|
low complexity region
|
703 |
723 |
N/A |
INTRINSIC |
|
coiled coil region
|
817 |
912 |
N/A |
INTRINSIC |
|
low complexity region
|
928 |
946 |
N/A |
INTRINSIC |
|
coiled coil region
|
1046 |
1075 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000113913
AA Change: R8L
PolyPhen 2
Score 0.483 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000109546
Gene: ENSMUSG00000031865
AA Change: R8L
| Domain | Start | End | E-Value | Type |
|---|
|
CAP_GLY
|
12 |
78 |
5.52e-31 |
SMART |
|
low complexity region
|
118 |
139 |
N/A |
INTRINSIC |
|
low complexity region
|
144 |
167 |
N/A |
INTRINSIC |
|
low complexity region
|
168 |
197 |
N/A |
INTRINSIC |
|
SCOP:d1fxkc_
|
205 |
357 |
3e-3 |
SMART |
|
low complexity region
|
383 |
399 |
N/A |
INTRINSIC |
|
Pfam:Dynactin
|
509 |
788 |
2.5e-90 |
PFAM |
|
low complexity region
|
820 |
840 |
N/A |
INTRINSIC |
|
coiled coil region
|
934 |
1029 |
N/A |
INTRINSIC |
|
low complexity region
|
1051 |
1069 |
N/A |
INTRINSIC |
|
coiled coil region
|
1168 |
1197 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000113918
AA Change: R25L
PolyPhen 2
Score 0.342 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000109551
Gene: ENSMUSG00000031865
AA Change: R25L
| Domain | Start | End | E-Value | Type |
|---|
|
CAP_GLY
|
29 |
95 |
5.52e-31 |
SMART |
|
low complexity region
|
135 |
156 |
N/A |
INTRINSIC |
|
low complexity region
|
161 |
184 |
N/A |
INTRINSIC |
|
low complexity region
|
185 |
214 |
N/A |
INTRINSIC |
|
low complexity region
|
227 |
240 |
N/A |
INTRINSIC |
|
low complexity region
|
274 |
292 |
N/A |
INTRINSIC |
|
low complexity region
|
400 |
416 |
N/A |
INTRINSIC |
|
Pfam:Dynactin
|
526 |
805 |
3.3e-90 |
PFAM |
|
low complexity region
|
837 |
857 |
N/A |
INTRINSIC |
|
coiled coil region
|
951 |
1046 |
N/A |
INTRINSIC |
|
coiled coil region
|
1147 |
1176 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000113919
AA Change: R25L
PolyPhen 2
Score 0.342 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000109552
Gene: ENSMUSG00000031865
AA Change: R25L
| Domain | Start | End | E-Value | Type |
|---|
|
CAP_GLY
|
29 |
95 |
5.52e-31 |
SMART |
|
low complexity region
|
135 |
156 |
N/A |
INTRINSIC |
|
low complexity region
|
161 |
184 |
N/A |
INTRINSIC |
|
low complexity region
|
185 |
214 |
N/A |
INTRINSIC |
|
SCOP:d1fxkc_
|
222 |
374 |
3e-3 |
SMART |
|
low complexity region
|
400 |
416 |
N/A |
INTRINSIC |
|
Pfam:Dynactin
|
522 |
805 |
1.4e-103 |
PFAM |
|
low complexity region
|
837 |
857 |
N/A |
INTRINSIC |
|
coiled coil region
|
951 |
1046 |
N/A |
INTRINSIC |
|
low complexity region
|
1068 |
1086 |
N/A |
INTRINSIC |
|
coiled coil region
|
1185 |
1214 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000130212
AA Change: R8L
PolyPhen 2
Score 0.524 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000115838
Gene: ENSMUSG00000031865
AA Change: R8L
| Domain | Start | End | E-Value | Type |
|---|
|
CAP_GLY
|
12 |
78 |
5.52e-31 |
SMART |
|
low complexity region
|
124 |
147 |
N/A |
INTRINSIC |
|
low complexity region
|
148 |
177 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000141680
AA Change: R8L
PolyPhen 2
Score 0.238 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000121538
Gene: ENSMUSG00000031865
AA Change: R8L
| Domain | Start | End | E-Value | Type |
|---|
|
CAP_GLY
|
12 |
78 |
5.52e-31 |
SMART |
|
low complexity region
|
118 |
139 |
N/A |
INTRINSIC |
|
low complexity region
|
144 |
159 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.3928 |
| Coding Region Coverage |
- 1x: 98.3%
- 3x: 97.4%
- 10x: 95.3%
- 20x: 91.3%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes the largest 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. Dynactin 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 interacts with dynein intermediate chain by its domains directly binding to dynein and binds to microtubules via a highly conserved glycine-rich cytoskeleton-associated protein (CAP-Gly) domain in its N-terminus. Alternative splicing of this gene results in multiple transcript variants encoding distinct isoforms. Mutations in this gene cause distal hereditary motor neuronopathy type VIIB (HMN7B) which is also known as distal spinal and bulbar muscular atrophy (dSBMA). [provided by RefSeq, Oct 2008]
PHENOTYPE: Mice homozygous for a null allele exhibit embryonic lethality and developmental arrest at E7.5 associated with increased apoptosis. [provided by MGI curators]
|
| Allele List at MGI |
All alleles(20) : Targeted(4) Gene trapped(16)
|
| Other mutations in this stock |
Total: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ak9 |
A |
G |
10: 41,223,165 (GRCm39) |
E436G |
probably damaging |
Het |
| Aldh18a1 |
C |
T |
19: 40,539,734 (GRCm39) |
R747Q |
probably damaging |
Het |
| Apob |
A |
G |
12: 8,061,762 (GRCm39) |
N3415D |
probably damaging |
Het |
| Asb18 |
T |
C |
1: 89,882,121 (GRCm39) |
E139G |
probably damaging |
Het |
| Atrn |
T |
C |
2: 130,864,995 (GRCm39) |
L1374P |
probably damaging |
Het |
| Ccdc81 |
A |
G |
7: 89,526,781 (GRCm39) |
S410P |
probably damaging |
Het |
| Cep112 |
A |
G |
11: 108,555,431 (GRCm39) |
E809G |
probably damaging |
Het |
| Ddn |
C |
A |
15: 98,704,884 (GRCm39) |
R82L |
probably damaging |
Het |
| Dgkz |
A |
T |
2: 91,771,394 (GRCm39) |
|
probably null |
Het |
| Eif4a3l1 |
C |
G |
6: 136,306,555 (GRCm39) |
R339G |
probably damaging |
Het |
| Frem1 |
T |
C |
4: 82,858,990 (GRCm39) |
*415W |
probably null |
Het |
| Fry |
A |
T |
5: 150,314,132 (GRCm39) |
D789V |
probably damaging |
Het |
| Fzr1 |
C |
T |
10: 81,207,178 (GRCm39) |
|
probably null |
Het |
| Gemin5 |
T |
A |
11: 58,021,526 (GRCm39) |
Y1025F |
probably damaging |
Het |
| Gjb5 |
C |
T |
4: 127,249,347 (GRCm39) |
V266M |
probably damaging |
Het |
| Gli3 |
A |
T |
13: 15,900,567 (GRCm39) |
Q1318L |
probably benign |
Het |
| Golgb1 |
T |
A |
16: 36,749,045 (GRCm39) |
N3056K |
possibly damaging |
Het |
| Gucy1b1 |
T |
A |
3: 81,947,183 (GRCm39) |
D342V |
probably damaging |
Het |
| H1f9 |
T |
C |
11: 94,858,843 (GRCm39) |
L46S |
probably benign |
Het |
| Hc |
A |
T |
2: 34,893,551 (GRCm39) |
|
probably null |
Het |
| Heg1 |
A |
G |
16: 33,545,804 (GRCm39) |
D185G |
probably benign |
Het |
| Igf2r |
A |
T |
17: 12,912,032 (GRCm39) |
M1865K |
possibly damaging |
Het |
| Il27 |
A |
G |
7: 126,192,100 (GRCm39) |
L12P |
probably damaging |
Het |
| Krt1 |
C |
T |
15: 101,759,149 (GRCm39) |
C5Y |
unknown |
Het |
| Med25 |
C |
T |
7: 44,535,225 (GRCm39) |
V170M |
probably damaging |
Het |
| Mgat4a |
T |
A |
1: 37,493,898 (GRCm39) |
Y316F |
probably damaging |
Het |
| Oas3 |
A |
G |
5: 120,899,709 (GRCm39) |
V725A |
unknown |
Het |
| Or52ac1 |
C |
A |
7: 104,245,932 (GRCm39) |
G152V |
probably damaging |
Het |
| Or5w16 |
T |
C |
2: 87,576,950 (GRCm39) |
S137P |
probably damaging |
Het |
| Pcdhb17 |
T |
C |
18: 37,620,300 (GRCm39) |
S697P |
probably damaging |
Het |
| Plch2 |
T |
C |
4: 155,075,579 (GRCm39) |
Y751C |
probably damaging |
Het |
| Rbms2 |
G |
T |
10: 127,973,560 (GRCm39) |
T252N |
probably damaging |
Het |
| Rbpjl |
GCC |
GC |
2: 164,256,330 (GRCm39) |
|
probably null |
Het |
| Robo4 |
CGG |
CG |
9: 37,322,786 (GRCm39) |
|
probably null |
Het |
| Scfd1 |
A |
G |
12: 51,443,522 (GRCm39) |
|
probably null |
Het |
| Shank3 |
C |
T |
15: 89,432,441 (GRCm39) |
T1062M |
probably damaging |
Het |
| Slc28a1 |
G |
A |
7: 80,817,787 (GRCm39) |
G552E |
probably damaging |
Het |
| Sntn |
A |
G |
14: 13,682,214 (GRCm38) |
R96G |
probably benign |
Het |
| Tas2r102 |
T |
C |
6: 132,740,106 (GRCm39) |
V338A |
probably benign |
Het |
| Trim62 |
A |
T |
4: 128,778,999 (GRCm39) |
N145Y |
possibly damaging |
Het |
| Tspoap1 |
C |
T |
11: 87,666,031 (GRCm39) |
T863I |
possibly damaging |
Het |
| Ubr5 |
C |
T |
15: 38,019,525 (GRCm39) |
C739Y |
possibly damaging |
Het |
| Vps13c |
G |
A |
9: 67,855,428 (GRCm39) |
V2498I |
probably benign |
Het |
| Zfp703 |
C |
T |
8: 27,469,233 (GRCm39) |
P299L |
probably damaging |
Het |
|
| Other mutations in Dctn1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01113:Dctn1
|
APN |
6 |
83,156,879 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL01450:Dctn1
|
APN |
6 |
83,171,092 (GRCm39) |
unclassified |
probably benign |
|
|
IGL01876:Dctn1
|
APN |
6 |
83,174,903 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01958:Dctn1
|
APN |
6 |
83,168,326 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
IGL02554:Dctn1
|
APN |
6 |
83,159,704 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02668:Dctn1
|
APN |
6 |
83,168,030 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
IGL02814:Dctn1
|
APN |
6 |
83,166,896 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02818:Dctn1
|
APN |
6 |
83,169,496 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
IGL03007:Dctn1
|
APN |
6 |
83,159,690 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03065:Dctn1
|
APN |
6 |
83,169,475 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL03083:Dctn1
|
APN |
6 |
83,174,466 (GRCm39) |
splice site |
probably benign |
|
|
IGL03394:Dctn1
|
APN |
6 |
83,168,266 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
E0374:Dctn1
|
UTSW |
6 |
83,171,156 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
IGL03014:Dctn1
|
UTSW |
6 |
83,174,351 (GRCm39) |
intron |
probably benign |
|
|
PIT4812001:Dctn1
|
UTSW |
6 |
83,176,744 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R0044:Dctn1
|
UTSW |
6 |
83,168,116 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0047:Dctn1
|
UTSW |
6 |
83,159,614 (GRCm39) |
nonsense |
probably null |
|
|
R0047:Dctn1
|
UTSW |
6 |
83,159,614 (GRCm39) |
nonsense |
probably null |
|
|
R0057:Dctn1
|
UTSW |
6 |
83,156,874 (GRCm39) |
missense |
probably benign |
0.14 |
|
R0731:Dctn1
|
UTSW |
6 |
83,160,071 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0738:Dctn1
|
UTSW |
6 |
83,167,089 (GRCm39) |
critical splice donor site |
probably null |
|
|
R0755:Dctn1
|
UTSW |
6 |
83,166,059 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R0839:Dctn1
|
UTSW |
6 |
83,167,459 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R1035:Dctn1
|
UTSW |
6 |
83,167,202 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1454:Dctn1
|
UTSW |
6 |
83,174,490 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R1469:Dctn1
|
UTSW |
6 |
83,169,871 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1469:Dctn1
|
UTSW |
6 |
83,169,871 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1627:Dctn1
|
UTSW |
6 |
83,172,064 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1631:Dctn1
|
UTSW |
6 |
83,174,578 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
R1812:Dctn1
|
UTSW |
6 |
83,169,500 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R1928:Dctn1
|
UTSW |
6 |
83,176,166 (GRCm39) |
splice site |
probably benign |
|
|
R2008:Dctn1
|
UTSW |
6 |
83,166,938 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2242:Dctn1
|
UTSW |
6 |
83,176,687 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2259:Dctn1
|
UTSW |
6 |
83,174,568 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R2422:Dctn1
|
UTSW |
6 |
83,176,782 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R2483:Dctn1
|
UTSW |
6 |
83,171,169 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4455:Dctn1
|
UTSW |
6 |
83,172,031 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4724:Dctn1
|
UTSW |
6 |
83,166,920 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R4812:Dctn1
|
UTSW |
6 |
83,166,919 (GRCm39) |
missense |
probably benign |
0.24 |
|
R4819:Dctn1
|
UTSW |
6 |
83,167,501 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R4831:Dctn1
|
UTSW |
6 |
83,176,753 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R4928:Dctn1
|
UTSW |
6 |
83,166,189 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R5087:Dctn1
|
UTSW |
6 |
83,168,621 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5354:Dctn1
|
UTSW |
6 |
83,160,108 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R5372:Dctn1
|
UTSW |
6 |
83,167,192 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R5493:Dctn1
|
UTSW |
6 |
83,159,546 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R5732:Dctn1
|
UTSW |
6 |
83,174,931 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5856:Dctn1
|
UTSW |
6 |
83,174,847 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6025:Dctn1
|
UTSW |
6 |
83,170,673 (GRCm39) |
splice site |
probably null |
|
|
R6999:Dctn1
|
UTSW |
6 |
83,168,263 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R7052:Dctn1
|
UTSW |
6 |
83,172,262 (GRCm39) |
splice site |
probably null |
|
|
R7133:Dctn1
|
UTSW |
6 |
83,157,026 (GRCm39) |
splice site |
probably null |
|
|
R7485:Dctn1
|
UTSW |
6 |
83,166,887 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R7607:Dctn1
|
UTSW |
6 |
83,172,051 (GRCm39) |
nonsense |
probably null |
|
|
R7729:Dctn1
|
UTSW |
6 |
83,160,042 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7749:Dctn1
|
UTSW |
6 |
83,163,123 (GRCm39) |
intron |
probably benign |
|
|
R8282:Dctn1
|
UTSW |
6 |
83,176,738 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R8750:Dctn1
|
UTSW |
6 |
83,160,108 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R9126:Dctn1
|
UTSW |
6 |
83,169,835 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9208:Dctn1
|
UTSW |
6 |
83,176,684 (GRCm39) |
missense |
probably benign |
0.33 |
|
R9422:Dctn1
|
UTSW |
6 |
83,170,691 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACTGATGTTTTCCAGAGGGG -3'
(R):5'- TCGCACCATCAGTTACCTG -3'
Sequencing Primer
(F):5'- CCAGAGGGGAGTTTGTAGTCTCAC -3'
(R):5'- ACCATCAGTTACCTGGGACTG -3'
|
| Posted On |
2016-10-05 |
Incidental Mutation