Mutagenetix > Incidental Mutation

Incidental Mutation 'R6112:Dctn5'

484906

Institutional Source

Beutler Lab

Gene Symbol

Dctn5

Ensembl Gene

ENSMUSG00000030868

Gene Name

dynactin 5

Synonyms

4930427E12Rik, p25 dynactin subunit, b2b315Clo

MMRRC Submission

044261-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R6112 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

121732264-121748267 bp(+) (GRCm39)

Type of Mutation

unclassified

DNA Base Change (assembly)

A to G at 121732460 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000123041 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000033156] [ENSMUST00000063587] [ENSMUST00000098068] [ENSMUST00000106468] [ENSMUST00000106469] [ENSMUST00000176193] [ENSMUST00000142952]

AlphaFold

Q9QZB9

Predicted Effect

probably benign
Transcript: ENSMUST00000033156

SMART Domains

Protein: ENSMUSP00000033156
Gene: ENSMUSG00000030868

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

unknown
Transcript: ENSMUST00000176193
AA Change: D35G

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000205352

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000162843

Predicted Effect

probably benign
Transcript: ENSMUST00000142952

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.2%
20x: 95.1%

Validation Efficiency

98% (54/55)

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: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc1	A	G	16: 14,278,780 (GRCm39)	Y1030C	probably damaging	Het
Adh5	G	T	3: 138,157,029 (GRCm39)	V197F	probably damaging	Het
Ankmy1	A	T	1: 92,798,684 (GRCm39)	F936I	probably damaging	Het
Aoc1	A	T	6: 48,885,625 (GRCm39)	D710V	probably damaging	Het
Aplp1	T	C	7: 30,134,902 (GRCm39)	E622G	probably damaging	Het
Arhgap20	T	C	9: 51,740,684 (GRCm39)	Y219H	probably damaging	Het
Bag3	A	G	7: 128,143,556 (GRCm39)	D184G	probably damaging	Het
Cacna1g	C	T	11: 94,300,072 (GRCm39)	A2216T	probably damaging	Het
Cbarp	T	C	10: 79,971,205 (GRCm39)		probably null	Het
Cep250	C	A	2: 155,836,503 (GRCm39)	L2211I	possibly damaging	Het
Cfap65	A	G	1: 74,942,298 (GRCm39)	I1752T	probably benign	Het
Col4a4	A	G	1: 82,431,604 (GRCm39)	V1560A	unknown	Het
Dapk3	A	T	10: 81,019,864 (GRCm39)	Q6L	probably benign	Het
Eef1akmt1	A	T	14: 57,787,330 (GRCm39)	I182N	possibly damaging	Het
Eef1g	T	C	19: 8,954,955 (GRCm39)	F346S	probably damaging	Het
Erap1	G	T	13: 74,794,398 (GRCm39)	W19L	probably benign	Het
Gm10801	A	G	2: 98,494,409 (GRCm39)	H162R	probably benign	Het
Gpm6a	G	A	8: 55,507,845 (GRCm39)	A194T	probably benign	Het
Grip1	C	A	10: 119,829,137 (GRCm39)	N32K	probably benign	Het
Hmcn1	A	G	1: 150,494,687 (GRCm39)	I4134T	probably damaging	Het
Hspa14	G	A	2: 3,499,105 (GRCm39)	H230Y	probably benign	Het
Ift172	T	C	5: 31,414,241 (GRCm39)	T1435A	probably benign	Het
Igsf3	T	A	3: 101,358,322 (GRCm39)	Y738N	probably damaging	Het
Lcor	T	C	19: 41,547,520 (GRCm39)	V368A	possibly damaging	Het
Lmna	C	A	3: 88,393,928 (GRCm39)	E217*	probably null	Het
Lrp1b	C	T	2: 41,231,894 (GRCm39)	G337E	probably benign	Het
Maf1	A	G	15: 76,236,312 (GRCm39)		probably benign	Het
Magi1	T	C	6: 93,722,571 (GRCm39)	I436V	probably damaging	Het
Muc4	C	T	16: 32,596,157 (GRCm39)	T3123I	possibly damaging	Het
Muc5b	T	A	7: 141,417,042 (GRCm39)	H3329Q	probably benign	Het
Noa1	C	T	5: 77,457,593 (GRCm39)	R104Q	probably benign	Het
Odc1	T	G	12: 17,599,473 (GRCm39)	S267A	probably benign	Het
Or5p60	T	A	7: 107,724,369 (GRCm39)	I34F	probably benign	Het
Pam	A	G	1: 97,762,193 (GRCm39)	Y691H	probably damaging	Het
Pamr1	T	C	2: 102,441,953 (GRCm39)	Y181H	probably damaging	Het
Pcdhga2	T	A	18: 37,802,612 (GRCm39)	I152N	probably damaging	Het
Pigt	C	T	2: 164,348,365 (GRCm39)	Q437*	probably null	Het
Prx	T	C	7: 27,215,973 (GRCm39)	L158P	probably damaging	Het
Ptprh	T	A	7: 4,600,922 (GRCm39)	T152S	probably benign	Het
Pum1	G	A	4: 130,457,591 (GRCm39)	R201H	probably damaging	Het
Rad51ap2	T	C	12: 11,507,290 (GRCm39)	I404T	probably benign	Het
Radil	C	T	5: 142,529,399 (GRCm39)	R99H	probably damaging	Het
Rc3h2	C	T	2: 37,268,899 (GRCm39)	V856I	possibly damaging	Het
Slx4ip	T	A	2: 136,888,664 (GRCm39)	V115E	probably damaging	Het
Snx3	C	A	10: 42,402,042 (GRCm39)	S85R	probably benign	Het
Sppl2c	A	T	11: 104,077,963 (GRCm39)	E254D	probably benign	Het
Srms	C	A	2: 180,849,780 (GRCm39)	E237*	probably null	Het
Tenm1	C	T	X: 41,916,072 (GRCm39)	G404E	probably damaging	Het
Trank1	T	C	9: 111,220,805 (GRCm39)	L2514P	probably damaging	Het
Trib1	C	T	15: 59,523,487 (GRCm39)	R174*	probably null	Het
Usp4	A	G	9: 108,233,703 (GRCm39)	Y108C	probably damaging	Het
Vmn2r60	A	T	7: 41,844,847 (GRCm39)	I737F	probably damaging	Het
Zfp600	A	T	4: 146,131,701 (GRCm39)	H123L	probably benign	Het
Zfp646	G	T	7: 127,478,190 (GRCm39)	R122S	possibly damaging	Het
Znfx1	A	G	2: 166,880,126 (GRCm39)	Y553H	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
R6499:Dctn5	UTSW	7	121,734,320 (GRCm39)	missense	probably benign	0.07
R8049:Dctn5	UTSW	7	121,732,466 (GRCm39)	unclassified	probably benign

Predicted Primers

PCR Primer
(F):5'- AAGTAGCTGGAATCACCGTC -3'
(R):5'- CTCAGGCGTGTGTATATGCAC -3'

Sequencing Primer
(F):5'- TCTGCCTGAGCTACTGACAG -3'
(R):5'- TATATGCATAGAAACTCTCCCACATC -3'

Posted On

2017-08-16