Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00983:Dctn6'

28093

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Dctn6

Ensembl Gene

ENSMUSG00000031516

Gene Name

dynactin 6

Synonyms

WS-3, p27

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL00983

Quality Score

Status

Chromosome

Chromosomal Location

34557574-34575866 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 34559747 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 136 (L136P)

Ref Sequence

ENSEMBL: ENSMUSP00000113716 (fasta)

Gene Model

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

AlphaFold

Q9WUB4

Predicted Effect

possibly damaging
Transcript: ENSMUST00000033913
AA Change: L131P

PolyPhen 2 Score 0.921 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000033913
Gene: ENSMUSG00000031516
AA Change: L131P

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 damaging
Transcript: ENSMUST00000117243
AA Change: L136P

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

SMART Domains

Protein: ENSMUSP00000113716
Gene: ENSMUSG00000031516
AA Change: L136P

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000118811
AA Change: L126P

PolyPhen 2 Score 0.921 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000113280
Gene: ENSMUSG00000031516
AA Change: L126P

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: L112P

SMART Domains

Protein: ENSMUSP00000120022
Gene: ENSMUSG00000031516
AA Change: L112P

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

Coding Region Coverage

Validation Efficiency

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: 37 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2810021J22Rik	C	T	11: 58,771,438 (GRCm39)	Q307*	probably null	Het
Acss3	A	T	10: 106,802,825 (GRCm39)	C473*	probably null	Het
Adgrg1	T	A	8: 95,731,871 (GRCm39)	S178T	probably damaging	Het
Anxa7	C	A	14: 20,508,749 (GRCm39)	L386F	possibly damaging	Het
Calcrl	T	C	2: 84,200,798 (GRCm39)	E82G	probably benign	Het
Ccr9	C	T	9: 123,608,351 (GRCm39)	P11L	probably benign	Het
Cep164	C	A	9: 45,686,554 (GRCm39)	V887L	possibly damaging	Het
Dnase1	T	C	16: 3,857,417 (GRCm39)	V238A	possibly damaging	Het
Fat1	A	G	8: 45,486,427 (GRCm39)	Y3304C	probably damaging	Het
Fbxo31	A	T	8: 122,281,069 (GRCm39)	V359D	possibly damaging	Het
Gpr182	A	G	10: 127,586,657 (GRCm39)	I98T	possibly damaging	Het
Gspt1	C	T	16: 11,048,861 (GRCm39)		probably benign	Het
Itgam	C	A	7: 127,667,839 (GRCm39)	T70K	probably damaging	Het
Itpr2	A	G	6: 146,212,479 (GRCm39)		probably benign	Het
Kank3	T	A	17: 34,040,791 (GRCm39)	M458K	probably damaging	Het
Kcnd2	A	G	6: 21,714,153 (GRCm39)	K379E	possibly damaging	Het
Macf1	C	T	4: 123,275,915 (GRCm39)	V4206I	probably damaging	Het
Mdn1	T	C	4: 32,735,525 (GRCm39)	L3397S	probably damaging	Het
Msh3	A	T	13: 92,436,785 (GRCm39)	N508K	probably damaging	Het
Mttp	C	A	3: 137,820,890 (GRCm39)		probably benign	Het
Nme5	G	T	18: 34,700,181 (GRCm39)	Q155K	probably benign	Het
Or13p3	A	T	4: 118,567,119 (GRCm39)	N172Y	probably damaging	Het
Or2r11	A	T	6: 42,437,029 (GRCm39)	I308N	probably benign	Het
Or52b4i	T	A	7: 102,191,593 (GRCm39)	I150N	possibly damaging	Het
Pfkp	A	T	13: 6,631,603 (GRCm39)	W151R	probably damaging	Het
Pkd1l1	T	A	11: 8,794,585 (GRCm39)	T1859S	probably benign	Het
Pmvk	T	C	3: 89,374,890 (GRCm39)	W96R	probably damaging	Het
Prdx6b	T	A	2: 80,123,539 (GRCm39)	M116K	probably damaging	Het
Ptpro	A	C	6: 137,395,246 (GRCm39)	L876F	probably benign	Het
Sdcbp	G	T	4: 6,392,953 (GRCm39)	E197*	probably null	Het
Serpinb1c	A	T	13: 33,068,207 (GRCm39)	S188R	possibly damaging	Het
Sorcs1	A	T	19: 50,164,566 (GRCm39)	D988E	probably damaging	Het
Tmbim1	C	A	1: 74,334,422 (GRCm39)	G46V	probably damaging	Het
Ubl4b	C	T	3: 107,461,756 (GRCm39)	G168E	unknown	Het
Vmn2r91	T	C	17: 18,325,820 (GRCm39)	F146S	probably benign	Het
Zdhhc20	T	C	14: 58,076,613 (GRCm39)	N335D	possibly damaging	Het
Zzz3	T	G	3: 152,161,447 (GRCm39)		probably benign	Het

Other mutations in Dctn6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R2292:Dctn6	UTSW	8	34,559,679 (GRCm39)	missense	probably benign	0.03
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

Posted On

2013-04-17