Incidental Mutation 'R6499:Dctn5'
ID |
519629 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Dctn5
|
Ensembl Gene |
ENSMUSG00000030868 |
Gene Name |
dynactin 5 |
Synonyms |
4930427E12Rik, p25 dynactin subunit, b2b315Clo |
MMRRC Submission |
044631-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R6499 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
7 |
Chromosomal Location |
121732264-121748267 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 121734320 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Isoleucine
at position 55
(V55I)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000033156
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000033156]
[ENSMUST00000063587]
[ENSMUST00000098068]
[ENSMUST00000106468]
[ENSMUST00000106469]
[ENSMUST00000176193]
[ENSMUST00000142952]
|
AlphaFold |
Q9QZB9 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000033156
AA Change: V55I
PolyPhen 2
Score 0.068 (Sensitivity: 0.94; Specificity: 0.84)
|
SMART Domains |
Protein: ENSMUSP00000033156 Gene: ENSMUSG00000030868 AA Change: V55I
Domain | Start | End | E-Value | Type |
Pfam:Hexapep
|
84 |
118 |
1.3e-6 |
PFAM |
Pfam:Hexapep
|
100 |
130 |
7.5e-7 |
PFAM |
Pfam:Hexapep
|
107 |
142 |
7.7e-6 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000063587
|
SMART Domains |
Protein: ENSMUSP00000063514 Gene: ENSMUSG00000044702
Domain | Start | End | E-Value | Type |
low complexity region
|
12 |
27 |
N/A |
INTRINSIC |
PDB:3EU7|A
|
36 |
383 |
N/A |
PDB |
SCOP:d2bbkh_
|
231 |
381 |
4e-8 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000098068
|
SMART Domains |
Protein: ENSMUSP00000095675 Gene: ENSMUSG00000044702
Domain | Start | End | E-Value | Type |
coiled coil region
|
9 |
46 |
N/A |
INTRINSIC |
low complexity region
|
415 |
431 |
N/A |
INTRINSIC |
low complexity region
|
446 |
462 |
N/A |
INTRINSIC |
low complexity region
|
469 |
482 |
N/A |
INTRINSIC |
low complexity region
|
543 |
559 |
N/A |
INTRINSIC |
Pfam:PALB2_WD40
|
755 |
1102 |
2.4e-183 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000106468
|
SMART Domains |
Protein: ENSMUSP00000102076 Gene: ENSMUSG00000044702
Domain | Start | End | E-Value | Type |
coiled coil region
|
9 |
46 |
N/A |
INTRINSIC |
low complexity region
|
415 |
431 |
N/A |
INTRINSIC |
low complexity region
|
446 |
462 |
N/A |
INTRINSIC |
low complexity region
|
469 |
482 |
N/A |
INTRINSIC |
low complexity region
|
543 |
559 |
N/A |
INTRINSIC |
PDB:3EU7|A
|
753 |
984 |
1e-131 |
PDB |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000106469
|
SMART Domains |
Protein: ENSMUSP00000102077 Gene: ENSMUSG00000044702
Domain | Start | End | E-Value | Type |
coiled coil region
|
9 |
46 |
N/A |
INTRINSIC |
low complexity region
|
180 |
196 |
N/A |
INTRINSIC |
PDB:3EU7|A
|
390 |
740 |
N/A |
PDB |
SCOP:d2bbkh_
|
588 |
738 |
3e-8 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000123602
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000130149
|
SMART Domains |
Protein: ENSMUSP00000121994 Gene: ENSMUSG00000044702
Domain | Start | End | E-Value | Type |
coiled coil region
|
9 |
46 |
N/A |
INTRINSIC |
low complexity region
|
415 |
431 |
N/A |
INTRINSIC |
low complexity region
|
446 |
462 |
N/A |
INTRINSIC |
low complexity region
|
469 |
482 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000205352
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000176193
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000132811
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000162843
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000142952
|
Meta Mutation Damage Score |
0.0852 |
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.2%
- 20x: 94.7%
|
Validation Efficiency |
98% (43/44) |
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a subunit of dynactin, a component of the cytoplasmic dynein motor machinery involved in minus-end-directed transport. The encoded protein is a component of the pointed-end subcomplex and is thought to bind membranous cargo. A pseudogene of this gene is located on the long arm of chromosome 1. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Jan 2011] PHENOTYPE: Mice homozygous for an ENU-induced mutation exhibit double outlet right ventricle (DORV), overriding aorta, and ventricular septal defect (VSD). Micrognathia, microcephaly/anencephaly and holoprosencephaly are also observed. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 43 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1110002E22Rik |
C |
T |
3: 137,774,561 (GRCm39) |
T1250M |
probably damaging |
Het |
Actn1 |
C |
T |
12: 80,215,191 (GRCm39) |
A857T |
possibly damaging |
Het |
Adam2 |
C |
T |
14: 66,296,239 (GRCm39) |
V207I |
probably damaging |
Het |
Angpt2 |
T |
C |
8: 18,744,533 (GRCm39) |
T404A |
probably benign |
Het |
Ank3 |
T |
C |
10: 69,827,574 (GRCm39) |
|
probably benign |
Het |
Atosa |
C |
A |
9: 74,930,930 (GRCm39) |
Q958K |
probably damaging |
Het |
B4galt4 |
T |
A |
16: 38,578,184 (GRCm39) |
D210E |
probably benign |
Het |
Brinp3 |
A |
T |
1: 146,777,431 (GRCm39) |
H626L |
possibly damaging |
Het |
Ccna2 |
T |
G |
3: 36,625,112 (GRCm39) |
D68A |
probably damaging |
Het |
Cd163 |
G |
A |
6: 124,281,703 (GRCm39) |
G2D |
probably benign |
Het |
Chrm5 |
A |
T |
2: 112,310,825 (GRCm39) |
V97D |
probably benign |
Het |
Dnm3 |
A |
T |
1: 162,141,164 (GRCm39) |
I365N |
probably damaging |
Het |
Esyt2 |
A |
G |
12: 116,284,790 (GRCm39) |
D184G |
probably damaging |
Het |
Ifi214 |
C |
A |
1: 173,352,597 (GRCm39) |
K277N |
probably damaging |
Het |
Il11ra1 |
C |
T |
4: 41,765,412 (GRCm39) |
P169L |
probably benign |
Het |
Inhbb |
C |
T |
1: 119,345,069 (GRCm39) |
E407K |
probably damaging |
Het |
Lama2 |
T |
A |
10: 26,907,154 (GRCm39) |
T2336S |
probably damaging |
Het |
Ldhb |
A |
T |
6: 142,439,847 (GRCm39) |
V231E |
possibly damaging |
Het |
Lrit2 |
T |
C |
14: 36,790,767 (GRCm39) |
F149L |
probably damaging |
Het |
Malrd1 |
T |
A |
2: 15,936,500 (GRCm39) |
S1575T |
probably benign |
Het |
Naip5 |
A |
G |
13: 100,358,102 (GRCm39) |
C1045R |
probably benign |
Het |
Nefl |
A |
G |
14: 68,322,034 (GRCm39) |
E208G |
probably damaging |
Het |
Oog4 |
A |
C |
4: 143,164,548 (GRCm39) |
S328A |
probably damaging |
Het |
Or1e1 |
T |
A |
11: 73,245,011 (GRCm39) |
L144Q |
probably damaging |
Het |
Or5p79 |
G |
T |
7: 108,221,713 (GRCm39) |
M231I |
probably benign |
Het |
Or6c216 |
T |
C |
10: 129,678,453 (GRCm39) |
I153V |
probably benign |
Het |
Or7e168 |
A |
G |
9: 19,719,847 (GRCm39) |
I78V |
probably benign |
Het |
Pbrm1 |
A |
G |
14: 30,783,466 (GRCm39) |
N528D |
probably damaging |
Het |
Pls1 |
A |
G |
9: 95,636,798 (GRCm39) |
I558T |
probably damaging |
Het |
Polq |
T |
C |
16: 36,881,189 (GRCm39) |
S839P |
probably benign |
Het |
Psmg1 |
A |
G |
16: 95,789,297 (GRCm39) |
F87L |
probably damaging |
Het |
Ptprt |
A |
G |
2: 161,376,507 (GRCm39) |
M1298T |
probably benign |
Het |
Rbm27 |
T |
A |
18: 42,470,076 (GRCm39) |
W958R |
probably damaging |
Het |
Skint5 |
T |
G |
4: 113,396,552 (GRCm39) |
D1207A |
unknown |
Het |
Stx17 |
T |
A |
4: 48,183,478 (GRCm39) |
|
probably null |
Het |
Tas2r114 |
A |
T |
6: 131,666,099 (GRCm39) |
*310R |
probably null |
Het |
Tmem130 |
T |
A |
5: 144,689,224 (GRCm39) |
N139I |
probably damaging |
Het |
Trpc1 |
T |
C |
9: 95,608,490 (GRCm39) |
E267G |
probably damaging |
Het |
Trrap |
T |
A |
5: 144,793,812 (GRCm39) |
M3398K |
probably damaging |
Het |
Vrtn |
T |
G |
12: 84,697,090 (GRCm39) |
D613E |
probably benign |
Het |
Vsx1 |
G |
T |
2: 150,530,441 (GRCm39) |
T147K |
probably benign |
Het |
Wdr55 |
T |
C |
18: 36,895,231 (GRCm39) |
V103A |
probably benign |
Het |
Zfp712 |
A |
T |
13: 67,200,400 (GRCm39) |
D28E |
probably benign |
Het |
|
Other mutations in Dctn5 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00548:Dctn5
|
APN |
7 |
121,743,019 (GRCm39) |
nonsense |
probably null |
|
IGL02110:Dctn5
|
APN |
7 |
121,734,374 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03102:Dctn5
|
APN |
7 |
121,732,382 (GRCm39) |
missense |
probably benign |
|
R4458:Dctn5
|
UTSW |
7 |
121,734,303 (GRCm39) |
missense |
probably damaging |
1.00 |
R5437:Dctn5
|
UTSW |
7 |
121,732,552 (GRCm39) |
utr 3 prime |
probably benign |
|
R5540:Dctn5
|
UTSW |
7 |
121,734,275 (GRCm39) |
missense |
probably benign |
0.19 |
R6027:Dctn5
|
UTSW |
7 |
121,732,564 (GRCm39) |
splice site |
probably benign |
|
R6112:Dctn5
|
UTSW |
7 |
121,732,460 (GRCm39) |
unclassified |
probably benign |
|
R8049:Dctn5
|
UTSW |
7 |
121,732,466 (GRCm39) |
unclassified |
probably benign |
|
|
Predicted Primers |
PCR Primer
(F):5'- TCTGAACAGAATGCAGTGGC -3'
(R):5'- ACTGTGAGCGCTTATGCAG -3'
Sequencing Primer
(F):5'- CAGTGGCAGATTGTTCTCTGTGC -3'
(R):5'- TTATGCAGCGCCCCCAAATG -3'
|
Posted On |
2018-06-06 |