Mutagenetix > Incidental Mutation

Incidental Mutation 'R8100:Kctd17'

630476

Institutional Source

Beutler Lab

Gene Symbol

Kctd17

Ensembl Gene

ENSMUSG00000033287

Gene Name

potassium channel tetramerisation domain containing 17

Synonyms

2900008M13Rik

MMRRC Submission

067532-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8100 (G1)

Quality Score

217.468

Status

Not 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: 98.4%

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: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adcy4	G	A	14: 56,009,722 (GRCm39)	Q777*	probably null	Het
Art1	T	C	7: 101,756,405 (GRCm39)	S199P	probably damaging	Het
Cadps2	A	T	6: 23,838,808 (GRCm39)	M110K	probably damaging	Het
Cdk13	C	T	13: 17,978,101 (GRCm39)	R379Q	unknown	Het
Cdk7	T	C	13: 100,842,925 (GRCm39)	I272V	probably benign	Het
Cep350	T	C	1: 155,829,148 (GRCm39)	D192G	probably damaging	Het
Chrna6	C	T	8: 27,903,844 (GRCm39)		probably benign	Het
Ciart	G	A	3: 95,788,656 (GRCm39)	P61L	probably damaging	Het
Ckmt1	T	A	2: 121,191,258 (GRCm39)	D223E	probably benign	Het
Col6a5	C	T	9: 105,755,839 (GRCm39)	R2195H	probably damaging	Het
D430041D05Rik	C	T	2: 104,087,287 (GRCm39)	R563H	probably benign	Het
Defa29	A	T	8: 21,816,990 (GRCm39)	M1K	probably null	Het
Dnah11	A	G	12: 117,930,368 (GRCm39)	S3326P	probably damaging	Het
Dsg3	A	G	18: 20,662,028 (GRCm39)	D431G	probably benign	Het
Ell3	TCTCCTC	TCTC	2: 121,269,937 (GRCm39)		probably benign	Het
Fbln1	T	A	15: 85,169,357 (GRCm39)	F699I	probably damaging	Het
Fndc1	A	G	17: 7,990,685 (GRCm39)	S1004P	unknown	Het
Gpr15	T	A	16: 58,538,076 (GRCm39)	T338S	probably benign	Het
Grin2d	T	C	7: 45,483,171 (GRCm39)	Y1002C	unknown	Het
Hk2	C	T	6: 82,707,859 (GRCm39)	M703I	probably benign	Het
Ifi213	A	C	1: 173,422,748 (GRCm39)	L39R	probably damaging	Het
Lama2	C	A	10: 26,917,113 (GRCm39)	A2271S	probably benign	Het
Lmo7	A	T	14: 102,137,899 (GRCm39)	Q867L	probably benign	Het
Loxhd1	T	A	18: 77,492,512 (GRCm39)	S1427T	possibly damaging	Het
Lzts1	A	G	8: 69,593,397 (GRCm39)	V70A	probably damaging	Het
Mocs3	A	G	2: 168,073,257 (GRCm39)	T235A	possibly damaging	Het
Myo15a	G	A	11: 60,408,016 (GRCm39)	R3168H	probably damaging	Het
Ndc1	A	G	4: 107,240,802 (GRCm39)	D260G	possibly damaging	Het
Nfam1	T	C	15: 82,900,730 (GRCm39)	D44G	probably damaging	Het
Or4a47	G	A	2: 89,666,029 (GRCm39)	Q87*	probably null	Het
Osbpl10	G	A	9: 114,996,322 (GRCm39)	R128H	probably benign	Het
Otx1	C	A	11: 21,949,392 (GRCm39)	V29L	probably benign	Het
Pogk	A	T	1: 166,229,511 (GRCm39)	D113E	possibly damaging	Het
Ptgs2	T	C	1: 149,978,472 (GRCm39)	F195L	probably damaging	Het
Ptpn21	T	A	12: 98,648,881 (GRCm39)	E925V	possibly damaging	Het
Ranbp2	T	C	10: 58,326,470 (GRCm39)	F2714L	possibly damaging	Het
Rbm20	T	G	19: 53,839,744 (GRCm39)	I911S	possibly damaging	Het
Rwdd2b	A	G	16: 87,233,509 (GRCm39)	V197A	possibly damaging	Het
Sel1l2	C	G	2: 140,117,329 (GRCm39)	A181P	probably damaging	Het
Sf1	A	G	19: 6,422,368 (GRCm39)	E234G	possibly damaging	Het
Skint2	A	C	4: 112,483,197 (GRCm39)	T201P	probably damaging	Het
Sra1	C	T	18: 36,809,948 (GRCm39)	R199H	probably damaging	Het
Svs5	A	G	2: 164,079,712 (GRCm39)	M65T	probably benign	Het
Tgif1	C	A	17: 71,153,544 (GRCm39)		probably benign	Het
Tmem184c	A	G	8: 78,331,411 (GRCm39)	W113R	possibly damaging	Het
Tmem30a	T	C	9: 79,681,432 (GRCm39)	R282G	probably benign	Het
Top1	T	A	2: 160,540,155 (GRCm39)	Y244*	probably null	Het
Trank1	A	G	9: 111,221,861 (GRCm39)	Y2866C	probably damaging	Het
Trim7	A	C	11: 48,740,346 (GRCm39)	I148L	probably damaging	Het
Triml1	T	A	8: 43,591,717 (GRCm39)	M214L	probably benign	Het
Usp30	T	G	5: 114,249,245 (GRCm39)	V183G	probably damaging	Het
Vmn1r175	G	A	7: 23,508,012 (GRCm39)	S205F	probably damaging	Het
Zbtb32	CTTG	CTTGTTG	7: 30,290,946 (GRCm39)		probably benign	Het
Zfp108	T	A	7: 23,960,602 (GRCm39)	C398S	probably damaging	Het
Zfp592	T	G	7: 80,673,940 (GRCm39)	D301E	probably benign	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
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
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'- AGACCCACCAACTGCTTTG -3'
(R):5'- GTTAGCGGGATCCTGAGATG -3'

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

Posted On

2020-06-30