Mutagenetix > Incidental Mutation

Incidental Mutation 'R8884:Dctn6'

677172

Institutional Source

Beutler Lab

Gene Symbol

Dctn6

Ensembl Gene

ENSMUSG00000031516

Gene Name

dynactin 6

Synonyms

WS-3, p27

MMRRC Submission

068690-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R8884 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

34557574-34575866 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 34557933 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 180 (T180A)

Ref Sequence

ENSEMBL: ENSMUSP00000033913 (fasta)

Gene Model

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

AlphaFold

Q9WUB4

Predicted Effect

probably benign
Transcript: ENSMUST00000033913
AA Change: T180A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000033913
Gene: ENSMUSG00000031516
AA Change: T180A

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: T185A

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000113716
Gene: ENSMUSG00000031516
AA Change: T185A

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: T175A

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

SMART Domains

Protein: ENSMUSP00000113280
Gene: ENSMUSG00000031516
AA Change: T175A

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

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

probably benign
Transcript: ENSMUST00000152422

SMART Domains

Protein: ENSMUSP00000120022
Gene: ENSMUSG00000031516

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.2%

Validation Efficiency

98% (65/66)

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: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930522L14Rik	A	T	5: 109,885,354 (GRCm39)	F168Y	probably damaging	Het
4932438H23Rik	T	C	16: 90,852,737 (GRCm39)	Y133C	probably damaging	Het
Aasdh	A	G	5: 77,039,641 (GRCm39)	S223P	possibly damaging	Het
Abca8a	T	C	11: 109,964,941 (GRCm39)	D453G	possibly damaging	Het
Acsl6	T	A	11: 54,236,728 (GRCm39)	F541I	probably damaging	Het
Agfg1	A	T	1: 82,860,110 (GRCm39)	K326*	probably null	Het
Aldh1l2	T	C	10: 83,344,541 (GRCm39)	N448S	probably benign	Het
Alx4	A	G	2: 93,473,355 (GRCm39)	K118E	possibly damaging	Het
Atp9b	T	A	18: 80,838,562 (GRCm39)	T451S		Het
B4galt6	A	T	18: 20,822,072 (GRCm39)	N307K	probably benign	Het
Cacna1s	G	A	1: 136,042,981 (GRCm39)	M1569I	probably benign	Het
Cacng6	C	T	7: 3,478,984 (GRCm39)	T121I	probably damaging	Het
Cdc5l	C	A	17: 45,744,467 (GRCm39)		probably benign	Het
Cdh20	A	T	1: 110,027,860 (GRCm39)	D535V	probably damaging	Het
Chrnb3	T	C	8: 27,883,946 (GRCm39)	F228L	possibly damaging	Het
Clca3a1	A	T	3: 144,719,757 (GRCm39)	D404E	probably benign	Het
Commd8	G	A	5: 72,325,514 (GRCm39)		probably benign	Het
Cpn1	T	A	19: 43,954,615 (GRCm39)	Q337L	possibly damaging	Het
Ddx60	A	G	8: 62,447,553 (GRCm39)	E1180G	possibly damaging	Het
Dock4	T	A	12: 40,856,884 (GRCm39)	L1239Q	probably damaging	Het
Dop1b	T	C	16: 93,556,550 (GRCm39)	I469T	probably benign	Het
Enpep	A	T	3: 129,115,052 (GRCm39)	I240N	possibly damaging	Het
Fat3	G	A	9: 15,941,280 (GRCm39)	T1337I	probably damaging	Het
Fbxw13	T	A	9: 109,010,469 (GRCm39)	M390L	probably benign	Het
Fgr	C	T	4: 132,713,609 (GRCm39)	P46S	probably benign	Het
Galnt1	T	A	18: 24,400,641 (GRCm39)	M249K	probably benign	Het
Gm40460	A	T	7: 141,794,555 (GRCm39)	C87*	probably null	Het
Hcn4	C	T	9: 58,760,705 (GRCm39)	R417C	unknown	Het
Insr	T	C	8: 3,205,679 (GRCm39)	N1370S	probably benign	Het
Itpr3	G	A	17: 27,337,651 (GRCm39)		probably benign	Het
Kif14	G	A	1: 136,414,089 (GRCm39)	E722K		Het
Larp6	G	A	9: 60,620,682 (GRCm39)	G65E		Het
Mindy4	T	C	6: 55,255,223 (GRCm39)	L567P	probably benign	Het
Mmp1a	TG	TGG	9: 7,465,083 (GRCm38)		probably null	Het
Muc16	G	A	9: 18,555,496 (GRCm39)	T3599I	unknown	Het
Muc5b	T	C	7: 141,403,156 (GRCm39)	F706L	unknown	Het
Nbea	A	T	3: 55,712,720 (GRCm39)	M2119K	probably benign	Het
Or13a18	C	T	7: 140,190,616 (GRCm39)	P171L	probably damaging	Het
Or13a24	A	T	7: 140,154,224 (GRCm39)	T53S	probably benign	Het
Paip1	G	A	13: 119,574,553 (GRCm39)	V83I	probably damaging	Het
Pdcd1lg2	G	T	19: 29,423,318 (GRCm39)		probably null	Het
Pde7a	G	A	3: 19,281,858 (GRCm39)	A464V	probably benign	Het
Pfkfb2	A	G	1: 130,634,213 (GRCm39)	F155L	probably damaging	Het
Pimreg	A	G	11: 71,936,513 (GRCm39)	D192G	possibly damaging	Het
Prkd3	T	C	17: 79,282,193 (GRCm39)	D320G	probably damaging	Het
Rgs7	A	G	1: 174,980,730 (GRCm39)	V98A	probably benign	Het
Ric3	C	T	7: 108,637,688 (GRCm39)	G356D	probably benign	Het
Rsph4a	T	C	10: 33,781,840 (GRCm39)		probably benign	Het
Ryr2	G	A	13: 11,794,152 (GRCm39)	T942I	probably benign	Het
Sez6l	T	C	5: 112,622,910 (GRCm39)	T214A	probably damaging	Het
Sipa1l1	T	G	12: 82,409,871 (GRCm39)	V595G	probably damaging	Het
Spata31h1	T	A	10: 82,119,486 (GRCm39)	H4508L	probably damaging	Het
Spta1	G	T	1: 174,045,254 (GRCm39)		probably null	Het
Ssbp2	A	G	13: 91,836,989 (GRCm39)		probably benign	Het
Syne1	T	G	10: 5,181,822 (GRCm39)	Q4171P	possibly damaging	Het
Tgfb2	G	A	1: 186,364,907 (GRCm39)	T232I	probably damaging	Het
Tmem175	A	G	5: 108,794,327 (GRCm39)	S486G	probably benign	Het
Tmprss15	A	G	16: 78,821,657 (GRCm39)	V466A	probably benign	Het
Treh	C	G	9: 44,595,800 (GRCm39)		probably benign	Het
Ttc14	A	G	3: 33,854,696 (GRCm39)	S8G	unknown	Het
Ttc32	T	A	12: 9,088,083 (GRCm39)	D103E	probably benign	Het
Vmn1r44	T	C	6: 89,870,458 (GRCm39)	L68P	probably damaging	Het
Vmn2r37	T	G	7: 9,218,916 (GRCm39)	L489F	probably benign	Het
Vmn2r52	T	A	7: 9,892,734 (GRCm39)	T802S	probably damaging	Het
Wsb2	T	A	5: 117,508,769 (GRCm39)	F68I	probably benign	Het
Zbtb8os	T	C	4: 129,236,924 (GRCm39)	V113A	probably benign	Het
Zfp354a	A	T	11: 50,950,805 (GRCm39)		probably benign	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
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
RF031:Dctn6	UTSW	8	34,572,236 (GRCm39)	start codon destroyed	probably null

Predicted Primers

PCR Primer
(F):5'- TGTACATTATCAGAACAAGGACAGG -3'
(R):5'- TGACTTAAGATGAGGGCCGAC -3'

Sequencing Primer
(F):5'- CAAGGACAGGGAGACAATATAGTCC -3'
(R):5'- GAGGAAATCACGCTGAGCCC -3'

Posted On

2021-08-02