Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02110:Dctn5'

280092

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 #

IGL02110

Quality Score

Status

Chromosome

Chromosomal Location

121732264-121748267 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 121734374 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 73 (F73L)

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 damaging
Transcript: ENSMUST00000033156
AA Change: F73L

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000033156
Gene: ENSMUSG00000030868
AA Change: F73L

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

noncoding transcript
Transcript: ENSMUST00000162843

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000132811

Predicted Effect

probably benign
Transcript: ENSMUST00000176193

Predicted Effect

probably benign
Transcript: ENSMUST00000142952

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: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Apol7e	A	G	15: 77,598,548 (GRCm39)		probably null	Het
Arhgef40	C	T	14: 52,226,862 (GRCm39)	T302M	probably damaging	Het
Bap1	T	C	14: 30,979,371 (GRCm39)	L458P	probably damaging	Het
Bbs12	A	G	3: 37,373,336 (GRCm39)	E43G	probably benign	Het
Bod1l	C	T	5: 41,973,796 (GRCm39)	C2506Y	probably damaging	Het
Ccdc170	A	G	10: 4,491,885 (GRCm39)		probably null	Het
Chpf2	A	G	5: 24,796,710 (GRCm39)	E552G	probably damaging	Het
Comp	T	A	8: 70,826,289 (GRCm39)	I23N	probably benign	Het
Cxcl2	T	C	5: 91,052,211 (GRCm39)		probably benign	Het
Ddx5	T	C	11: 106,675,835 (GRCm39)	E285G	probably damaging	Het
Ddx60	T	G	8: 62,470,281 (GRCm39)		probably null	Het
Dhcr24	T	A	4: 106,430,998 (GRCm39)	I229N	probably damaging	Het
Dnah7a	G	A	1: 53,450,739 (GRCm39)	T3897I	possibly damaging	Het
Dvl2	T	A	11: 69,898,842 (GRCm39)		probably benign	Het
Dytn	A	T	1: 63,686,632 (GRCm39)	V346E	possibly damaging	Het
Eepd1	T	C	9: 25,514,698 (GRCm39)		probably benign	Het
Fbln2	G	T	6: 91,211,084 (GRCm39)	A343S	probably benign	Het
Flywch1	T	C	17: 23,982,066 (GRCm39)		probably null	Het
Gckr	A	T	5: 31,456,082 (GRCm39)	T81S	possibly damaging	Het
Gm6139	T	A	5: 129,700,656 (GRCm39)		noncoding transcript	Het
Gpcpd1	A	T	2: 132,372,530 (GRCm39)	C657*	probably null	Het
Greb1l	A	G	18: 10,515,271 (GRCm39)	I89V	probably damaging	Het
Hdac4	G	A	1: 91,912,127 (GRCm39)	P421S	probably benign	Het
Iqca1l	A	G	5: 24,753,082 (GRCm39)		probably benign	Het
Klhl1	A	G	14: 96,374,039 (GRCm39)	L669P	probably benign	Het
Mios	A	G	6: 8,215,565 (GRCm39)	R254G	probably damaging	Het
Mmp19	A	G	10: 128,630,727 (GRCm39)	N116D	probably damaging	Het
Muc5b	T	A	7: 141,401,453 (GRCm39)	C566*	probably null	Het
Nadsyn1	T	C	7: 143,367,164 (GRCm39)	Y141C	probably damaging	Het
Nlrp4d	T	C	7: 10,116,491 (GRCm39)		noncoding transcript	Het
Nob1	A	T	8: 108,142,804 (GRCm39)	*160R	probably null	Het
Or10ac1	A	G	6: 42,515,113 (GRCm39)	V281A	possibly damaging	Het
Or1f12	T	A	13: 21,722,112 (GRCm39)	Q21L	possibly damaging	Het
Or1j17	A	G	2: 36,578,697 (GRCm39)	T228A	probably benign	Het
Or4k45	C	T	2: 111,395,252 (GRCm39)	C179Y	probably damaging	Het
Or51s1	C	T	7: 102,558,402 (GRCm39)	V215I	probably benign	Het
Or56b1b	C	A	7: 108,164,286 (GRCm39)	A239S	probably damaging	Het
Phc1	T	C	6: 122,298,994 (GRCm39)	D658G	possibly damaging	Het
Pitx2	T	G	3: 129,012,466 (GRCm39)	S299A	probably damaging	Het
Plekha7	C	A	7: 115,753,863 (GRCm39)		probably null	Het
Ptgfr	A	G	3: 151,541,097 (GRCm39)	V137A	probably damaging	Het
Ptprb	T	C	10: 116,167,108 (GRCm39)		probably benign	Het
Rasl2-9	C	T	7: 5,128,346 (GRCm39)	A195T	probably benign	Het
Ripor3	T	A	2: 167,836,626 (GRCm39)	Q121L	possibly damaging	Het
Sgsh	G	T	11: 119,243,632 (GRCm39)	A30E	probably damaging	Het
Sis	G	T	3: 72,836,032 (GRCm39)	C852*	probably null	Het
Slc17a9	A	G	2: 180,374,369 (GRCm39)		probably benign	Het
Slco6b1	A	T	1: 96,915,607 (GRCm39)		noncoding transcript	Het
Smarca2	A	G	19: 26,650,140 (GRCm39)	Y704C	possibly damaging	Het
Spata6	A	T	4: 111,642,003 (GRCm39)	H291L	possibly damaging	Het
Stra8	T	C	6: 34,907,289 (GRCm39)		probably benign	Het
Taldo1	T	C	7: 140,982,647 (GRCm39)		probably benign	Het
Tmco6	T	C	18: 36,868,219 (GRCm39)		probably benign	Het
Tmpo	A	C	10: 90,998,727 (GRCm39)	S353R	probably damaging	Het
Tpr	A	T	1: 150,311,493 (GRCm39)	Q1757L	probably damaging	Het
Ubn1	T	C	16: 4,899,754 (GRCm39)		probably benign	Het
Vmn2r83	T	C	10: 79,327,534 (GRCm39)	V714A	possibly damaging	Het
Zfp407	G	T	18: 84,577,165 (GRCm39)	A1316D	probably benign	Het
Zzef1	T	A	11: 72,803,938 (GRCm39)	I2560N	probably damaging	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
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

2015-04-16