Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02079:Kctd17'

186078

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Kctd17

Ensembl Gene

ENSMUSG00000033287

Gene Name

potassium channel tetramerisation domain containing 17

Synonyms

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02079

Quality Score

Status

Chromosome

Chromosomal Location

78428564-78439303 bp(+) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

T to C at 78430156 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000155227 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000089414] [ENSMUST00000159771] [ENSMUST00000162321] [ENSMUST00000162517] [ENSMUST00000166142] [ENSMUST00000229290] [ENSMUST00000229622]

AlphaFold

E0CYQ0

Predicted Effect

probably benign
Transcript: ENSMUST00000089414

SMART Domains

Protein: ENSMUSP00000086835
Gene: ENSMUSG00000033287

Domain	Start	End	E-Value	Type
low complexity region	12	30	N/A	INTRINSIC
BTB	31	132	1.76e-16	SMART
coiled coil region	208	244	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000159771

SMART Domains

Protein: ENSMUSP00000125574
Gene: ENSMUSG00000033287

Domain	Start	End	E-Value	Type
low complexity region	5	23	N/A	INTRINSIC
BTB	24	125	1.76e-16	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000160916

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000161016

Predicted Effect

probably benign
Transcript: ENSMUST00000162321

SMART Domains

Protein: ENSMUSP00000125680
Gene: ENSMUSG00000033287

Domain	Start	End	E-Value	Type
BTB	3	86	9.93e-2	SMART
low complexity region	168	195	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000162517

SMART Domains

Protein: ENSMUSP00000124290
Gene: ENSMUSG00000033287

Domain	Start	End	E-Value	Type
low complexity region	12	30	N/A	INTRINSIC
BTB	31	132	1.76e-16	SMART
low complexity region	227	235	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000162605

Predicted Effect

probably benign
Transcript: ENSMUST00000162808

SMART Domains

Protein: ENSMUSP00000125421
Gene: ENSMUSG00000033287

Domain	Start	End	E-Value	Type
SCOP:d3kvt__	2	36	3e-8	SMART
Blast:BTB	2	98	6e-30	BLAST
PDB:3DRY\|E	2	127	4e-69	PDB
low complexity region	130	157	N/A	INTRINSIC
low complexity region	160	187	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000166142

SMART Domains

Protein: ENSMUSP00000133210
Gene: ENSMUSG00000033287

Domain	Start	End	E-Value	Type
low complexity region	12	30	N/A	INTRINSIC
BTB	31	132	1.76e-16	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000229290

Predicted Effect

probably benign
Transcript: ENSMUST00000229622

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 protein that belongs to a conserved family of potassium channel tetramerization domain (KCTD)-containing proteins. The encoded protein functions in ciliogenesis by acting as a substrate adaptor for the cullin3-based ubiquitin-conjugating enzyme E3 ligase, and targets trichoplein, a keratin-binding protein, for degradation via polyubiquitinylation. A mutation in this gene is associated with autosomal dominant myoclonic dystonia 26. [provided by RefSeq, Nov 2016]

Allele List at MGI

Other mutations in this stock

Total: 37 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
5330417C22Rik	T	A	3: 108,481,359	N236I	possibly damaging	Het
Abl1	T	C	2: 31,689,948		probably benign	Het
Ago4	A	T	4: 126,517,084	M204K	probably damaging	Het
Alms1	T	C	6: 85,628,634	V2422A	probably damaging	Het
Ap5z1	T	C	5: 142,477,113		probably null	Het
Arsa	T	C	15: 89,473,351	T470A	probably benign	Het
Bri3bp	T	C	5: 125,454,689	V233A	probably damaging	Het
Cdc45	C	T	16: 18,798,729	M200I	probably benign	Het
Csgalnact1	C	A	8: 68,401,492	G219V	probably damaging	Het
Ephb6	T	A	6: 41,616,014	D395E	possibly damaging	Het
Flt1	T	A	5: 147,568,831		probably benign	Het
Fry	A	T	5: 150,399,624	N1080I	probably damaging	Het
Gdpgp1	T	A	7: 80,239,020	D266E	probably benign	Het
Gspt1	A	G	16: 11,240,829	S123P	probably benign	Het
Lamb2	T	A	9: 108,482,113	C313S	probably damaging	Het
Lcor	T	A	19: 41,555,687	S106R	probably benign	Het
Lgr5	A	C	10: 115,452,194	S776R	probably damaging	Het
Mettl16	T	G	11: 74,817,624	C510G	probably damaging	Het
Mlip	T	C	9: 77,239,529	T101A	possibly damaging	Het
Myh6	A	T	14: 54,950,541	L1152Q	probably damaging	Het
Mylk	G	A	16: 34,860,631	R87H	possibly damaging	Het
Npepl1	C	T	2: 174,119,390		probably benign	Het
Nrxn1	A	T	17: 90,643,083	M548K	probably damaging	Het
Olfr1205	T	A	2: 88,831,647	C177S	probably damaging	Het
Olfr514	T	A	7: 108,825,936	E21V	probably damaging	Het
Pate3	T	A	9: 35,646,153	Q69L	probably damaging	Het
Piwil1	T	C	5: 128,742,003	V192A	possibly damaging	Het
Plcxd2	A	T	16: 45,972,343	I211N	probably benign	Het
Plekhg3	T	A	12: 76,560,429	Y88N	probably benign	Het
Rabgap1l	C	T	1: 160,738,970	C58Y	probably benign	Het
Rnf123	G	A	9: 108,068,302	R390*	probably null	Het
Rusc2	A	G	4: 43,425,668	S1258G	probably benign	Het
Scn1a	T	C	2: 66,323,360	R710G	probably benign	Het
Wwc1	A	G	11: 35,876,058	S457P	probably damaging	Het
Xdh	C	T	17: 73,891,277	G1205D	probably damaging	Het
Zfp518a	G	A	19: 40,914,617	G997R	probably damaging	Het
Zfp592	T	C	7: 81,039,230	S1080P	probably benign	Het

Other mutations in Kctd17

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02209:Kctd17	APN	15	78435592	missense	probably damaging	1.00
IGL03132:Kctd17	APN	15	78435687	missense	probably damaging	1.00
R4676:Kctd17	UTSW	15	78435759	unclassified	probably benign
R4793:Kctd17	UTSW	15	78433024	missense	probably damaging	1.00
R5428:Kctd17	UTSW	15	78428782	missense	probably damaging	1.00
R5590:Kctd17	UTSW	15	78437302	unclassified	probably benign
R5779:Kctd17	UTSW	15	78437133	unclassified	probably benign
R6249:Kctd17	UTSW	15	78430039	splice site	probably null
R6911:Kctd17	UTSW	15	78434006	missense	probably damaging	1.00
R7266:Kctd17	UTSW	15	78433014	missense	probably damaging	1.00
R7324:Kctd17	UTSW	15	78435642	missense	probably damaging	1.00
R7706:Kctd17	UTSW	15	78436913	unclassified	probably benign
R7707:Kctd17	UTSW	15	78436913	unclassified	probably benign
R7967:Kctd17	UTSW	15	78436913	unclassified	probably benign
R7968:Kctd17	UTSW	15	78436913	unclassified	probably benign
R7970:Kctd17	UTSW	15	78436913	unclassified	probably benign
R7972:Kctd17	UTSW	15	78436913	unclassified	probably benign
R7973:Kctd17	UTSW	15	78436913	unclassified	probably benign
R8097:Kctd17	UTSW	15	78436913	unclassified	probably benign
R8098:Kctd17	UTSW	15	78436913	unclassified	probably benign
R8099:Kctd17	UTSW	15	78436913	unclassified	probably benign
R8100:Kctd17	UTSW	15	78436913	unclassified	probably benign
R8333:Kctd17	UTSW	15	78436913	unclassified	probably benign
R9025:Kctd17	UTSW	15	78430082	missense	probably damaging	1.00

Posted On

2014-05-07