Mutagenetix > Incidental Mutation

Incidental Mutation 'R4676:Kctd17'

349609

Institutional Source

Beutler Lab

Gene Symbol

Kctd17

Ensembl Gene

ENSMUSG00000033287

Gene Name

potassium channel tetramerisation domain containing 17

Synonyms

2900008M13Rik

MMRRC Submission

042013-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4676 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

78312764-78323503 bp(+) (GRCm39)

Type of Mutation

unclassified

DNA Base Change (assembly)

T to A at 78319959 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000155401 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000017086] [ENSMUST00000089414] [ENSMUST00000159771] [ENSMUST00000162321] [ENSMUST00000162517] [ENSMUST00000229290] [ENSMUST00000166142] [ENSMUST00000230020] [ENSMUST00000229622] [ENSMUST00000230226]

AlphaFold

E0CYQ0

Predicted Effect

probably benign
Transcript: ENSMUST00000017086

SMART Domains

Protein: ENSMUSP00000017086
Gene: ENSMUSG00000016942

Domain	Start	End	E-Value	Type
low complexity region	19	39	N/A	INTRINSIC
transmembrane domain	57	79	N/A	INTRINSIC
Pfam:SEA	88	191	3.2e-13	PFAM
CUB	341	452	3.82e-2	SMART
LDLa	457	489	1.33e-2	SMART
LDLa	490	527	2.31e-9	SMART
LDLa	530	568	1.07e-4	SMART
Tryp_SPc	576	806	3.75e-97	SMART

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: ENSMUST00000229290

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: ENSMUST00000230020

Predicted Effect

probably benign
Transcript: ENSMUST00000229622

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: ENSMUST00000230226

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.1%
20x: 94.8%

Validation Efficiency

98% (93/95)

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: 84 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3110009E18Rik	T	A	1: 120,078,382 (GRCm39)	I13N	probably damaging	Het
Abcd3	T	A	3: 121,567,815 (GRCm39)	T409S	possibly damaging	Het
Acad12	C	A	5: 121,745,234 (GRCm39)	W317L	probably damaging	Het
Acap1	T	A	11: 69,780,294 (GRCm39)	M50L	probably benign	Het
Acvr1b	T	A	15: 101,100,867 (GRCm39)	V343E	probably damaging	Het
Adgb	C	A	10: 10,302,454 (GRCm39)	G371W	probably damaging	Het
Akap9	A	G	5: 4,082,774 (GRCm39)	K1966R	probably damaging	Het
Akap9	C	T	5: 4,114,515 (GRCm39)	Q48*	probably null	Het
Ano10	T	C	9: 122,092,853 (GRCm39)	R159G	probably damaging	Het
Anxa7	T	C	14: 20,517,983 (GRCm39)	M128V	probably benign	Het
Arhgef40	C	A	14: 52,228,416 (GRCm39)	C554*	probably null	Het
Atf6	T	C	1: 170,614,979 (GRCm39)	Y538C	probably damaging	Het
Atp8b1	A	C	18: 64,671,749 (GRCm39)	D1091E	probably benign	Het
BC034090	A	G	1: 155,102,010 (GRCm39)	Y85H	possibly damaging	Het
Bcas2	A	G	3: 103,083,017 (GRCm39)		probably benign	Het
Bnc2	T	C	4: 84,211,056 (GRCm39)	N463D	probably damaging	Het
Capn7	A	T	14: 31,081,216 (GRCm39)	H411L	possibly damaging	Het
Cavin3	T	C	7: 105,130,320 (GRCm39)	E164G	probably damaging	Het
Ccdc191	T	C	16: 43,759,536 (GRCm39)		probably benign	Het
Ccdc88b	A	G	19: 6,830,368 (GRCm39)	V858A	probably benign	Het
Clcn3	A	G	8: 61,383,685 (GRCm39)		probably benign	Het
Commd6	T	C	14: 101,877,720 (GRCm39)		probably benign	Het
Cspg4b	C	A	13: 113,505,341 (GRCm39)	L2157I	probably damaging	Het
Cspg4b	T	G	13: 113,505,342 (GRCm39)	L2157R	probably damaging	Het
Cul3	G	A	1: 80,249,391 (GRCm39)	L561F	probably damaging	Het
Cyfip1	T	A	7: 55,524,761 (GRCm39)	I131N	probably damaging	Het
Dlgap3	T	A	4: 127,127,554 (GRCm39)	Y741N	probably damaging	Het
Dnaaf10	T	C	11: 17,179,794 (GRCm39)	V265A	probably benign	Het
Dnah5	A	T	15: 28,295,406 (GRCm39)	I1380F	possibly damaging	Het
Dync1h1	G	T	12: 110,628,975 (GRCm39)	L4177F	probably damaging	Het
Ethe1	G	A	7: 24,307,319 (GRCm39)	V178M	probably damaging	Het
Flnc	A	T	6: 29,445,153 (GRCm39)		probably null	Het
Get3	C	T	8: 85,745,502 (GRCm39)	A219T	probably benign	Het
Glt8d1	T	C	14: 30,728,649 (GRCm39)	F26L	probably benign	Het
Gm5493	T	A	17: 22,967,054 (GRCm39)	D63E	probably benign	Het
Gm9996	T	A	10: 29,019,834 (GRCm39)		probably benign	Het
Gnl2	T	G	4: 124,947,266 (GRCm39)	S629R	possibly damaging	Het
Gpbp1l1	T	C	4: 116,447,462 (GRCm39)	S381P	probably damaging	Het
Igsf10	A	C	3: 59,233,370 (GRCm39)	F1788V	probably benign	Het
Inpp5d	C	A	1: 87,642,864 (GRCm39)	P935Q	probably damaging	Het
Itch	A	C	2: 155,041,355 (GRCm39)	I468L	probably benign	Het
Itga5	A	T	15: 103,265,637 (GRCm39)	Y192N	probably damaging	Het
Itih3	T	A	14: 30,640,906 (GRCm39)	Q302L	probably null	Het
Itih3	T	A	14: 30,643,643 (GRCm39)	Q121L	possibly damaging	Het
Lsm1	T	C	8: 26,283,717 (GRCm39)	L43P	probably damaging	Het
Magi3	A	T	3: 103,923,141 (GRCm39)	M1192K	probably benign	Het
Mecom	A	G	3: 30,322,817 (GRCm39)		probably benign	Het
Minar1	A	G	9: 89,483,606 (GRCm39)	V597A	probably damaging	Het
Mtmr3	A	T	11: 4,477,855 (GRCm39)	F63Y	probably benign	Het
Naa16	A	G	14: 79,573,788 (GRCm39)		probably benign	Het
Neto1	A	T	18: 86,416,427 (GRCm39)	T45S	possibly damaging	Het
Nlrp4a	A	T	7: 26,149,654 (GRCm39)	R420S	probably damaging	Het
Nr1h4	T	C	10: 89,309,736 (GRCm39)	D317G	probably damaging	Het
Or8b53	A	G	9: 38,666,955 (GRCm39)		probably benign	Het
Or9i16	C	T	19: 13,864,765 (GRCm39)	D270N	probably damaging	Het
Or9q2	T	A	19: 13,772,838 (GRCm39)	I46F	possibly damaging	Het
Pde5a	A	T	3: 122,541,542 (GRCm39)	M11L	possibly damaging	Het
Plxnb1	G	A	9: 108,939,503 (GRCm39)	R1416Q	possibly damaging	Het
Polm	A	T	11: 5,785,749 (GRCm39)	Y141*	probably null	Het
Rxfp1	A	G	3: 79,612,975 (GRCm39)	F32L	probably damaging	Het
Scrt1	T	A	15: 76,405,868 (GRCm39)	D13V	possibly damaging	Het
Slc1a7	T	A	4: 107,834,871 (GRCm39)	V79E	possibly damaging	Het
Snurf	T	C	7: 59,645,270 (GRCm39)	Q48R	probably benign	Het
Srek1	T	C	13: 103,894,695 (GRCm39)		probably benign	Het
Stxbp5l	T	C	16: 37,076,246 (GRCm39)	S267G	probably damaging	Het
Taf5	C	T	19: 47,063,409 (GRCm39)	R320W	probably damaging	Het
Tars2	A	T	3: 95,660,403 (GRCm39)	N106K	probably damaging	Het
Tatdn3	A	T	1: 190,781,531 (GRCm39)	L207Q	probably damaging	Het
Tdrd6	T	C	17: 43,938,501 (GRCm39)	E849G	probably damaging	Het
Tedc2	T	C	17: 24,438,985 (GRCm39)	T111A	probably benign	Het
Tfg	T	A	16: 56,514,854 (GRCm39)		probably null	Het
Tgds	A	T	14: 118,353,643 (GRCm39)	S225T	probably benign	Het
Tnks2	T	A	19: 36,852,671 (GRCm39)	Y134*	probably null	Het
Trappc1	T	A	11: 69,216,356 (GRCm39)	V134D	probably damaging	Het
Ttc3	C	A	16: 94,243,620 (GRCm39)	P853Q	probably damaging	Het
Ttc7	C	A	17: 87,678,163 (GRCm39)		probably benign	Het
Ttf1	A	G	2: 28,964,606 (GRCm39)	S643G	probably damaging	Het
Tubgcp3	A	T	8: 12,700,171 (GRCm39)	S338T	probably damaging	Het
Ugt1a6a	T	C	1: 88,067,007 (GRCm39)	I271T	possibly damaging	Het
Vipas39	T	A	12: 87,288,075 (GRCm39)	Y445F	probably damaging	Het
Vmn1r31	A	C	6: 58,448,998 (GRCm39)	I289S	probably damaging	Het
Zfp112	A	G	7: 23,825,685 (GRCm39)	E551G	probably damaging	Het
Zfp397	T	A	18: 24,093,854 (GRCm39)	Y446*	probably null	Het
Zfp442	A	T	2: 150,251,526 (GRCm39)	H124Q	probably damaging	Het

Other mutations in Kctd17

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02079:Kctd17	APN	15	78,314,356 (GRCm39)	splice site	probably benign
IGL02209:Kctd17	APN	15	78,319,792 (GRCm39)	missense	probably damaging	1.00
IGL03132:Kctd17	APN	15	78,319,887 (GRCm39)	missense	probably damaging	1.00
R4793:Kctd17	UTSW	15	78,317,224 (GRCm39)	missense	probably damaging	1.00
R5428:Kctd17	UTSW	15	78,312,982 (GRCm39)	missense	probably damaging	1.00
R5590:Kctd17	UTSW	15	78,321,502 (GRCm39)	unclassified	probably benign
R5779:Kctd17	UTSW	15	78,321,333 (GRCm39)	unclassified	probably benign
R6249:Kctd17	UTSW	15	78,314,239 (GRCm39)	splice site	probably null
R6911:Kctd17	UTSW	15	78,318,206 (GRCm39)	missense	probably damaging	1.00
R7266:Kctd17	UTSW	15	78,317,214 (GRCm39)	missense	probably damaging	1.00
R7324:Kctd17	UTSW	15	78,319,842 (GRCm39)	missense	probably damaging	1.00
R7706:Kctd17	UTSW	15	78,321,113 (GRCm39)	unclassified	probably benign
R7707:Kctd17	UTSW	15	78,321,113 (GRCm39)	unclassified	probably benign
R7967:Kctd17	UTSW	15	78,321,113 (GRCm39)	unclassified	probably benign
R7968:Kctd17	UTSW	15	78,321,113 (GRCm39)	unclassified	probably benign
R7970:Kctd17	UTSW	15	78,321,113 (GRCm39)	unclassified	probably benign
R7972:Kctd17	UTSW	15	78,321,113 (GRCm39)	unclassified	probably benign
R7973:Kctd17	UTSW	15	78,321,113 (GRCm39)	unclassified	probably benign
R8097:Kctd17	UTSW	15	78,321,113 (GRCm39)	unclassified	probably benign
R8098:Kctd17	UTSW	15	78,321,113 (GRCm39)	unclassified	probably benign
R8099:Kctd17	UTSW	15	78,321,113 (GRCm39)	unclassified	probably benign
R8100:Kctd17	UTSW	15	78,321,113 (GRCm39)	unclassified	probably benign
R8333:Kctd17	UTSW	15	78,321,113 (GRCm39)	unclassified	probably benign
R9025:Kctd17	UTSW	15	78,314,282 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TGAACATCGGCTCCTCCTAC -3'
(R):5'- TCAGTGTGCTCTACTTCGTG -3'

Sequencing Primer
(F):5'- TCCTCCTACAACTATGGGAGTGAG -3'
(R):5'- TTGATGCCACGTGATTGAAAAGC -3'

Posted On

2015-10-08