Mutagenetix > Incidental Mutation

Incidental Mutation 'R2292:Dctn6'

245040

Institutional Source

Beutler Lab

Gene Symbol

Dctn6

Ensembl Gene

ENSMUSG00000031516

Gene Name

dynactin 6

Synonyms

WS-3, p27

MMRRC Submission

040291-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R2292 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

34557574-34575866 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 34559679 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 159 (T159A)

Ref Sequence

ENSEMBL: ENSMUSP00000113716 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000033913] [ENSMUST00000117243] [ENSMUST00000118811] [ENSMUST00000143411]

AlphaFold

Q9WUB4

Predicted Effect

probably benign
Transcript: ENSMUST00000033913
AA Change: T154A

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000033913
Gene: ENSMUSG00000031516
AA Change: T154A

Domain	Start	End	E-Value	Type
Pfam:Hexapep	8	43	3.3e-5	PFAM
Pfam:Hexapep	98	133	3.3e-7	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000117243
AA Change: T159A

PolyPhen 2 Score 0.028 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000113716
Gene: ENSMUSG00000031516
AA Change: T159A

Domain	Start	End	E-Value	Type
low complexity region	46	58	N/A	INTRINSIC
Pfam:Hexapep	103	138	2.2e-7	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000118811
AA Change: T149A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000113280
Gene: ENSMUSG00000031516
AA Change: T149A

Domain	Start	End	E-Value	Type
Pfam:Hexapep	3	38	4.7e-6	PFAM
Pfam:Hexapep	93	128	5.7e-8	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000123113

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000131839

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000142661

Predicted Effect

probably benign
Transcript: ENSMUST00000143411

SMART Domains

Protein: ENSMUSP00000117109
Gene: ENSMUSG00000031516

Domain	Start	End	E-Value	Type
PDB:3TV0\|B	1	103	3e-35	PDB

Predicted Effect

unknown
Transcript: ENSMUST00000152422
AA Change: T135A

SMART Domains

Protein: ENSMUSP00000120022
Gene: ENSMUSG00000031516
AA Change: T135A

Domain	Start	End	E-Value	Type
low complexity region	23	35	N/A	INTRINSIC
Pfam:Hexapep	80	115	1.6e-7	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000155296

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000181097

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000153537

Meta Mutation Damage Score

0.0584

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 94.8%

Validation Efficiency

100% (44/44)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene contains an RGD (Arg-Gly-Asp) motif in the N-terminal region, which confers adhesive properties to macromolecular proteins like fibronectin. It shares a high degree of sequence similarity with the mouse homolog, which has been suggested to play a role in mitochondrial biogenesis. The exact biological function of this gene is not known. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4932414N04Rik	T	C	2: 68,562,483 (GRCm39)	I370T	probably benign	Het
A2m	A	G	6: 121,650,518 (GRCm39)	T1209A	possibly damaging	Het
Als2	T	C	1: 59,226,544 (GRCm39)	Q920R	probably damaging	Het
Arhgap20	T	A	9: 51,760,743 (GRCm39)	Y829N	possibly damaging	Het
Arhgap35	A	T	7: 16,297,476 (GRCm39)	F530I	probably damaging	Het
Arid4a	G	T	12: 71,108,315 (GRCm39)	G40V	probably damaging	Het
Ascc2	T	C	11: 4,629,352 (GRCm39)		probably benign	Het
Cacna1b	C	T	2: 24,496,632 (GRCm39)	V2312I	probably benign	Het
Ddx55	G	T	5: 124,706,140 (GRCm39)	A522S	probably benign	Het
Dnah6	G	A	6: 72,998,092 (GRCm39)	T4110I	probably damaging	Het
Dvl1	G	A	4: 155,932,273 (GRCm39)	V28I	possibly damaging	Het
Dym	A	G	18: 75,332,283 (GRCm39)	T504A	possibly damaging	Het
E130308A19Rik	T	C	4: 59,690,579 (GRCm39)	Y138H	probably damaging	Het
Fgd4	A	T	16: 16,253,864 (GRCm39)	C568S	possibly damaging	Het
Fkbp4	A	C	6: 128,413,625 (GRCm39)	V6G	probably damaging	Het
Flg2	A	T	3: 93,127,984 (GRCm39)	S2299C	unknown	Het
Gdf2	A	T	14: 33,667,145 (GRCm39)	N289I	possibly damaging	Het
Gpr182	A	G	10: 127,586,051 (GRCm39)	I300T	possibly damaging	Het
Iqcg	A	G	16: 32,870,253 (GRCm39)	V80A	probably benign	Het
Letm1	A	AG	5: 33,926,859 (GRCm39)		probably null	Het
Lyst	T	G	13: 13,915,080 (GRCm39)	F3258C	probably damaging	Het
Map3k12	T	C	15: 102,408,574 (GRCm39)	E870G	probably damaging	Het
Mphosph10	G	A	7: 64,035,519 (GRCm39)	P384L	probably damaging	Het
Ncoa4	T	G	14: 31,895,413 (GRCm39)	L179R	probably damaging	Het
Nlrp1c-ps	A	G	11: 71,137,188 (GRCm39)		noncoding transcript	Het
Nwd2	A	T	5: 63,962,917 (GRCm39)	M834L	probably benign	Het
Or10a49	A	T	7: 108,468,223 (GRCm39)	M46K	probably benign	Het
Or2w6	A	G	13: 21,843,001 (GRCm39)	M164T	probably damaging	Het
Pccb	T	C	9: 100,876,685 (GRCm39)	E266G	probably benign	Het
Pcdhb2	T	A	18: 37,430,297 (GRCm39)		probably null	Het
Pramel25	T	C	4: 143,520,446 (GRCm39)	I66T	probably benign	Het
Prdm13	A	C	4: 21,683,914 (GRCm39)	I119S	unknown	Het
Tchh	A	G	3: 93,349,689 (GRCm39)	Y18C	probably damaging	Het
Tmem192	T	C	8: 65,411,998 (GRCm39)	V59A	probably damaging	Het
Trak2	A	T	1: 58,974,916 (GRCm39)	F92Y	probably damaging	Het
Trappc11	C	T	8: 47,958,771 (GRCm39)	G40D	probably damaging	Het
Ttc23	A	T	7: 67,319,535 (GRCm39)	I132F	probably benign	Het
Ttc9b	A	G	7: 27,355,405 (GRCm39)	D225G	probably benign	Het
Ubr3	G	T	2: 69,727,604 (GRCm39)		probably benign	Het
Vmn2r75	A	C	7: 85,798,144 (GRCm39)	C556W	probably damaging	Het
Zbtb41	T	C	1: 139,368,097 (GRCm39)	V595A	probably damaging	Het

Other mutations in Dctn6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00983:Dctn6	APN	8	34,559,747 (GRCm39)	missense	probably damaging	1.00
R4868:Dctn6	UTSW	8	34,559,230 (GRCm39)	unclassified	probably benign
R5408:Dctn6	UTSW	8	34,562,056 (GRCm39)	missense	possibly damaging	0.80
R5460:Dctn6	UTSW	8	34,572,135 (GRCm39)	splice site	probably null
R5862:Dctn6	UTSW	8	34,575,571 (GRCm39)	critical splice donor site	probably null
R6265:Dctn6	UTSW	8	34,562,057 (GRCm39)	missense	probably damaging	1.00
R7256:Dctn6	UTSW	8	34,557,962 (GRCm39)	missense	probably damaging	1.00
R8884:Dctn6	UTSW	8	34,557,933 (GRCm39)	missense	probably benign
RF031:Dctn6	UTSW	8	34,572,236 (GRCm39)	start codon destroyed	probably null

Predicted Primers

PCR Primer
(F):5'- CCCGTCAGTATCACACATGC -3'
(R):5'- GTGAGGAATGTCCATGCTTTC -3'

Sequencing Primer
(F):5'- GAACTGTGAACTGCAAATAAATCC -3'
(R):5'- CTTGATGTCTTAAGCTGTAACTGTC -3'

Posted On

2014-10-30