Mutagenetix > Incidental Mutation

Incidental Mutation 'R6499:Dctn5'

519629

Institutional Source

Beutler Lab

Gene Symbol

Dctn5

Ensembl Gene

ENSMUSG00000030868

Gene Name

dynactin 5

Synonyms

p25 dynactin subunit, 4930427E12Rik, b2b315Clo

MMRRC Submission

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R6499 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

122133041-122149044 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 122135097 bp (GRCm38)

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] [ENSMUST00000142952] [ENSMUST00000176193]

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: ENSMUST00000132811

Predicted Effect

probably benign
Transcript: ENSMUST00000142952

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000162843

Predicted Effect

probably benign
Transcript: ENSMUST00000176193

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000205352

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: 138,068,800	T1250M	probably damaging	Het
Actn1	C	T	12: 80,168,417	A857T	possibly damaging	Het
Adam2	C	T	14: 66,058,790	V207I	probably damaging	Het
Angpt2	T	C	8: 18,694,517	T404A	probably benign	Het
Ank3	T	C	10: 69,991,744		probably benign	Het
B4galt4	T	A	16: 38,757,822	D210E	probably benign	Het
Brinp3	A	T	1: 146,901,693	H626L	possibly damaging	Het
Ccna2	T	G	3: 36,570,963	D68A	probably damaging	Het
Cd163	G	A	6: 124,304,744	G2D	probably benign	Het
Chrm5	A	T	2: 112,480,480	V97D	probably benign	Het
Dnm3	A	T	1: 162,313,595	I365N	probably damaging	Het
Esyt2	A	G	12: 116,321,170	D184G	probably damaging	Het
Fam214a	C	A	9: 75,023,648	Q958K	probably damaging	Het
Ifi214	C	A	1: 173,525,031	K277N	probably damaging	Het
Il11ra1	C	T	4: 41,765,412	P169L	probably benign	Het
Inhbb	C	T	1: 119,417,339	E407K	probably damaging	Het
Lama2	T	A	10: 27,031,158	T2336S	probably damaging	Het
Ldhb	A	T	6: 142,494,121	V231E	possibly damaging	Het
Lrit2	T	C	14: 37,068,810	F149L	probably damaging	Het
Malrd1	T	A	2: 15,931,689	S1575T	probably benign	Het
Naip5	A	G	13: 100,221,594	C1045R	probably benign	Het
Nefl	A	G	14: 68,084,585	E208G	probably damaging	Het
Olfr20	T	A	11: 73,354,185	L144Q	probably damaging	Het
Olfr507	G	T	7: 108,622,506	M231I	probably benign	Het
Olfr812	T	C	10: 129,842,584	I153V	probably benign	Het
Olfr859	A	G	9: 19,808,551	I78V	probably benign	Het
Oog4	A	C	4: 143,437,978	S328A	probably damaging	Het
Pbrm1	A	G	14: 31,061,509	N528D	probably damaging	Het
Pls1	A	G	9: 95,754,745	I558T	probably damaging	Het
Polq	T	C	16: 37,060,827	S839P	probably benign	Het
Psmg1	A	G	16: 95,988,097	F87L	probably damaging	Het
Ptprt	A	G	2: 161,534,587	M1298T	probably benign	Het
Rbm27	T	A	18: 42,337,011	W958R	probably damaging	Het
Skint5	T	G	4: 113,539,355	D1207A	unknown	Het
Stx17	T	A	4: 48,183,478		probably null	Het
Tas2r114	A	T	6: 131,689,136	*310R	probably null	Het
Tmem130	T	A	5: 144,752,414	N139I	probably damaging	Het
Trpc1	T	C	9: 95,726,437	E267G	probably damaging	Het
Trrap	T	A	5: 144,857,002	M3398K	probably damaging	Het
Vrtn	T	G	12: 84,650,316	D613E	probably benign	Het
Vsx1	G	T	2: 150,688,521	T147K	probably benign	Het
Wdr55	T	C	18: 36,762,178	V103A	probably benign	Het
Zfp712	A	T	13: 67,052,336	D28E	probably benign	Het

Other mutations in Dctn5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00548:Dctn5	APN	7	122143796	nonsense	probably null
IGL02110:Dctn5	APN	7	122135151	missense	probably damaging	1.00
IGL03102:Dctn5	APN	7	122133159	missense	probably benign
R4458:Dctn5	UTSW	7	122135080	missense	probably damaging	1.00
R5437:Dctn5	UTSW	7	122133329	utr 3 prime	probably benign
R5540:Dctn5	UTSW	7	122135052	missense	probably benign	0.19
R6027:Dctn5	UTSW	7	122133341	splice site	probably benign
R6112:Dctn5	UTSW	7	122133237	unclassified	probably benign
R8049:Dctn5	UTSW	7	122133243	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