Mutagenetix > Incidental Mutation

Incidental Mutation 'R8097:Kctd17'

630265

Institutional Source

Beutler Lab

Gene Symbol

Kctd17

Ensembl Gene

ENSMUSG00000033287

Gene Name

potassium channel tetramerisation domain containing 17

Synonyms

2900008M13Rik

MMRRC Submission

067529-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8097 (G1)

Quality Score

217.468

Status

Validated

Chromosome

Chromosomal Location

78312764-78323503 bp(+) (GRCm39)

Type of Mutation

unclassified

DNA Base Change (assembly)

CAGCTGGAGGAGC to CAGC at 78321113 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] [ENSMUST00000166142] [ENSMUST00000229290] [ENSMUST00000229622] [ENSMUST00000230020] [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

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

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

Predicted Effect

probably benign
Transcript: ENSMUST00000230020

Predicted Effect

probably benign
Transcript: ENSMUST00000230226

Meta Mutation Damage Score

0.0846

Coding Region Coverage

1x: 99.9%
3x: 99.8%
10x: 99.4%
20x: 98.6%

Validation Efficiency

100% (64/64)

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: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc2	G	A	19: 43,805,394 (GRCm39)	M749I	probably benign	Het
Adcy8	A	T	15: 64,743,711 (GRCm39)		probably null	Het
Adgrb2	G	A	4: 129,901,690 (GRCm39)	C438Y	probably damaging	Het
Amn1	G	A	6: 149,070,853 (GRCm39)		probably benign	Het
Atxn2	C	T	5: 121,887,286 (GRCm39)	R319W	probably damaging	Het
Ccdc162	T	C	10: 41,510,115 (GRCm39)	E830G	probably benign	Het
Ccdc71	T	C	9: 108,340,751 (GRCm39)	V188A	probably benign	Het
Ceacam11	A	T	7: 17,709,455 (GRCm39)	R218*	probably null	Het
Col18a1	A	C	10: 76,948,342 (GRCm39)	L390R	unknown	Het
Cps1	A	G	1: 67,267,429 (GRCm39)	N1399S	probably benign	Het
Ctnnal1	T	C	4: 56,847,845 (GRCm39)	E98G	probably damaging	Het
Cyp1a2	T	A	9: 57,586,836 (GRCm39)		probably null	Het
Cyp2d11	C	A	15: 82,274,581 (GRCm39)		probably null	Het
Cyp2j7	G	A	4: 96,103,647 (GRCm39)	T296I	possibly damaging	Het
Dcc	C	T	18: 71,812,573 (GRCm39)	G407D	probably damaging	Het
E330034G19Rik	T	C	14: 24,356,920 (GRCm39)	L217S	unknown	Het
Eea1	A	G	10: 95,862,516 (GRCm39)	K813E	probably benign	Het
Ell3	TCTCCTC	TCTC	2: 121,269,937 (GRCm39)		probably benign	Het
Etf1	T	C	18: 35,064,697 (GRCm39)	D4G	probably benign	Het
F830045P16Rik	T	C	2: 129,305,505 (GRCm39)	T290A	possibly damaging	Het
Filip1	T	C	9: 79,725,541 (GRCm39)	D1026G	probably benign	Het
Flad1	A	T	3: 89,316,442 (GRCm39)	L40H	probably damaging	Het
Fpr3	C	A	17: 18,191,054 (GRCm39)	N108K	probably damaging	Het
Galntl6	A	G	8: 58,415,407 (GRCm39)		probably null	Het
Hmgcll1	T	C	9: 75,922,421 (GRCm39)	L22P	probably benign	Het
Iars2	C	T	1: 185,061,586 (GRCm39)		probably benign	Het
Ifna15	A	T	4: 88,475,938 (GRCm39)	L182Q	probably benign	Het
Kcna6	A	T	6: 126,715,575 (GRCm39)	V438E	probably damaging	Het
Kcnma1	T	A	14: 23,381,032 (GRCm39)	D1012V	probably damaging	Het
Lama2	G	A	10: 27,066,660 (GRCm39)	Q1074*	probably null	Het
Lhx9	T	C	1: 138,766,089 (GRCm39)	Y242C	probably damaging	Het
Lrrc37a	T	A	11: 103,394,925 (GRCm39)	I167F	probably benign	Het
Lrrc49	T	A	9: 60,522,331 (GRCm39)	T351S	probably benign	Het
Lrrc56	A	G	7: 140,775,819 (GRCm39)		probably null	Het
Mlh1	C	A	9: 111,085,160 (GRCm39)		probably null	Het
Msh4	C	T	3: 153,583,545 (GRCm39)		probably null	Het
Nav2	A	G	7: 49,237,525 (GRCm39)	D1999G	probably damaging	Het
Ncapd2	A	T	6: 125,145,945 (GRCm39)	I1272K	possibly damaging	Het
Neurl1a	A	G	19: 47,245,958 (GRCm39)	D530G	probably damaging	Het
Nid2	T	C	14: 19,848,657 (GRCm39)	V1019A	possibly damaging	Het
Nlrp2	A	T	7: 5,330,650 (GRCm39)	L582Q	probably damaging	Het
Or1o4	A	T	17: 37,590,818 (GRCm39)	Y164*	probably null	Het
Or4c121	A	T	2: 89,023,976 (GRCm39)	I134N	probably damaging	Het
Or51a39	A	G	7: 102,363,197 (GRCm39)	V141A	possibly damaging	Het
Or8k1	A	T	2: 86,048,010 (GRCm39)	F15I	probably damaging	Het
Pde6c	G	T	19: 38,150,414 (GRCm39)	E520*	probably null	Het
Pdzk1	C	T	3: 96,757,556 (GRCm39)	T4I	probably benign	Het
Pxdn	C	T	12: 30,056,601 (GRCm39)	L1271F	probably damaging	Het
Rap1gap	G	T	4: 137,455,597 (GRCm39)	V667F	probably benign	Het
Recql	A	T	6: 142,320,637 (GRCm39)	I137N	probably damaging	Het
Ryr2	T	C	13: 11,960,881 (GRCm39)	E19G	probably damaging	Het
Ryr3	T	C	2: 112,500,615 (GRCm39)		probably null	Het
Six1	A	G	12: 73,090,524 (GRCm39)	S214P	possibly damaging	Het
Slc24a1	T	C	9: 64,831,734 (GRCm39)	D1121G	probably damaging	Het
Slc30a6	T	A	17: 74,719,693 (GRCm39)	C218S	possibly damaging	Het
Spata31e1	T	A	13: 49,943,676 (GRCm39)	M1L	probably benign	Het
Stab2	T	C	10: 86,704,959 (GRCm39)	D1803G	possibly damaging	Het
Sult2a3	A	T	7: 13,816,635 (GRCm39)	V181E	possibly damaging	Het
Ubc	C	T	5: 125,466,982 (GRCm39)		probably benign	Het
Usp8	A	G	2: 126,596,800 (GRCm39)	N870S	probably benign	Het
Vmn1r225	A	G	17: 20,722,611 (GRCm39)	I17M	possibly damaging	Het
Vps13b	T	C	15: 35,709,492 (GRCm39)	I1813T	probably benign	Het
Wdr11	C	T	7: 129,209,611 (GRCm39)	P473L	probably damaging	Het
Zcchc4	T	A	5: 52,953,333 (GRCm39)	I114N	probably benign	Het
Zfp516	C	A	18: 83,005,295 (GRCm39)	S733*	probably null	Het
Zfp764l1	C	T	7: 126,992,496 (GRCm39)	C38Y	probably null	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
R4676:Kctd17	UTSW	15	78,319,959 (GRCm39)	unclassified	probably benign
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
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'- AAGACCCACCAACTGCTTTG -3'
(R):5'- TTAGCGGGATCCTGAGATGACAG -3'

Sequencing Primer
(F):5'- AGAGGTCCCTTTCATCCTG -3'
(R):5'- TGAGCTAACCCTGGTGGC -3'

Posted On

2020-06-30