Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00548:Dctn5'

12570

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Dctn5

Ensembl Gene

ENSMUSG00000030868

Gene Name

dynactin 5

Synonyms

4930427E12Rik, p25 dynactin subunit, b2b315Clo

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL00548

Quality Score

Status

Chromosome

Chromosomal Location

121732264-121748267 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

T to A at 121743019 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Stop codon at position 120 (C120*)

Ref Sequence

ENSEMBL: ENSMUSP00000033156 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000033156] [ENSMUST00000176295]

AlphaFold

Q9QZB9

Predicted Effect

probably null
Transcript: ENSMUST00000033156
AA Change: C120*

SMART Domains

Protein: ENSMUSP00000033156
Gene: ENSMUSG00000030868
AA Change: C120*

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

noncoding transcript
Transcript: ENSMUST00000123602

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000132811

Predicted Effect

probably benign
Transcript: ENSMUST00000176295

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 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: 12 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Agbl4	A	G	4: 110,976,081 (GRCm39)	Y146C	probably damaging	Het
Ddah2	A	G	17: 35,279,607 (GRCm39)	D109G	possibly damaging	Het
Dgke	G	A	11: 88,946,197 (GRCm39)	T201I	probably benign	Het
Elmo1	A	G	13: 20,445,749 (GRCm39)	I146V	probably benign	Het
Fam98a	T	C	17: 75,845,813 (GRCm39)	E311G	probably damaging	Het
Herc2	T	A	7: 55,856,313 (GRCm39)	M3881K	probably benign	Het
Mroh2b	A	G	15: 4,960,798 (GRCm39)	K787E	probably benign	Het
Neb	A	G	2: 52,133,984 (GRCm39)	V3333A	probably benign	Het
Prkch	C	A	12: 73,749,585 (GRCm39)	Q393K	probably damaging	Het
Rfx3	A	G	19: 27,783,586 (GRCm39)		probably null	Het
Ubr5	T	C	15: 38,004,565 (GRCm39)	T1281A	probably benign	Het
Usp24	A	G	4: 106,198,495 (GRCm39)	T134A	probably damaging	Het

Other mutations in Dctn5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
R6499:Dctn5	UTSW	7	121,734,320 (GRCm39)	missense	probably benign	0.07
R8049:Dctn5	UTSW	7	121,732,466 (GRCm39)	unclassified	probably benign

Posted On

2012-12-06