Mutagenetix > Incidental Mutation

Incidental Mutation 'R7266:Kctd17'

564957

Institutional Source

Beutler Lab

Gene Symbol

Kctd17

Ensembl Gene

ENSMUSG00000033287

Gene Name

potassium channel tetramerisation domain containing 17

Synonyms

2900008M13Rik

MMRRC Submission

045389-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7266 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

78312764-78323503 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 78317214 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 117 (I117F)

Ref Sequence

ENSEMBL: ENSMUSP00000124290 (fasta)

Gene Model

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

AlphaFold

E0CYQ0

Predicted Effect

probably damaging
Transcript: ENSMUST00000089414
AA Change: I117F

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000086835
Gene: ENSMUSG00000033287
AA Change: I117F

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 damaging
Transcript: ENSMUST00000159771
AA Change: I110F

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000125574
Gene: ENSMUSG00000033287
AA Change: I110F

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000162321
AA Change: I71F

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000125680
Gene: ENSMUSG00000033287
AA Change: I71F

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000162517
AA Change: I117F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000124290
Gene: ENSMUSG00000033287
AA Change: I117F

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

SMART Domains

Protein: ENSMUSP00000125421
Gene: ENSMUSG00000033287
AA Change: I32F

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 damaging
Transcript: ENSMUST00000166142
AA Change: I117F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000133210
Gene: ENSMUSG00000033287
AA Change: I117F

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000229290
AA Change: I15F

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

Predicted Effect

probably damaging
Transcript: ENSMUST00000229622
AA Change: I44F

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

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: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam18	T	A	8: 25,157,639 (GRCm39)	I104F	probably benign	Het
Adgrg7	C	T	16: 56,590,674 (GRCm39)	V166I	probably benign	Het
Agfg1	G	T	1: 82,859,966 (GRCm39)	V278L	probably benign	Het
Alpk3	A	G	7: 80,742,328 (GRCm39)	E715G	possibly damaging	Het
Ap2m1	A	G	16: 20,362,095 (GRCm39)	Y401C	probably damaging	Het
Arhgef28	C	T	13: 98,101,960 (GRCm39)	S838N	probably benign	Het
Ash2l	A	T	8: 26,317,233 (GRCm39)	Y373*	probably null	Het
Best2	C	T	8: 85,734,393 (GRCm39)	V442I	probably benign	Het
Col4a2	T	C	8: 11,475,542 (GRCm39)		probably null	Het
Fat2	T	A	11: 55,175,856 (GRCm39)	D1619V	probably damaging	Het
Fer1l6	A	T	15: 58,499,446 (GRCm39)	N1272I	probably benign	Het
Gcc1	T	A	6: 28,417,995 (GRCm39)	*779C	probably null	Het
Gm12216	G	A	11: 53,750,077 (GRCm39)		probably benign	Het
Grm2	C	T	9: 106,524,370 (GRCm39)	V311I		Het
Immt	T	A	6: 71,851,689 (GRCm39)	D683E	probably benign	Het
Itga8	T	G	2: 12,237,712 (GRCm39)	D336A	probably damaging	Het
Jhy	T	C	9: 40,872,453 (GRCm39)	T19A	probably benign	Het
Kcnq2	T	C	2: 180,776,885 (GRCm39)	M1V	probably null	Het
Lrp6	T	C	6: 134,484,364 (GRCm39)	T420A	probably damaging	Het
Manba	T	C	3: 135,223,673 (GRCm39)	S187P	probably damaging	Het
Mef2b	A	T	8: 70,616,938 (GRCm39)	D13V	probably damaging	Het
Mical2	T	C	7: 111,902,963 (GRCm39)	F145L	probably damaging	Het
Mphosph8	T	A	14: 56,922,497 (GRCm39)	D551E	possibly damaging	Het
Mplkipl1	A	G	19: 61,163,973 (GRCm39)	V154A	possibly damaging	Het
Myo10	C	G	15: 25,783,067 (GRCm39)	R1170G	probably damaging	Het
Myo16	A	C	8: 10,322,687 (GRCm39)	Q39P	unknown	Het
Myo1f	A	G	17: 33,820,668 (GRCm39)	E837G	probably benign	Het
Nell2	T	A	15: 95,333,274 (GRCm39)	I128F	possibly damaging	Het
Or1i2	A	G	10: 78,448,448 (GRCm39)	V9A	probably benign	Het
Pcdh15	A	T	10: 74,215,222 (GRCm39)	R659*	probably null	Het
Pcdhga1	A	G	18: 37,973,028 (GRCm39)	Q881R	possibly damaging	Het
Plekhm2	T	G	4: 141,369,770 (GRCm39)	E75A	possibly damaging	Het
Prc1	A	G	7: 79,957,405 (GRCm39)	K357E	possibly damaging	Het
Pxk	T	A	14: 8,146,220 (GRCm38)	C377S	probably benign	Het
Ralgapa2	T	C	2: 146,176,488 (GRCm39)	E1696G	probably damaging	Het
Rbbp6	T	A	7: 122,600,590 (GRCm39)	S1532R	unknown	Het
Scn5a	G	T	9: 119,391,626 (GRCm39)	A22E	probably benign	Het
Sctr	G	A	1: 119,949,955 (GRCm39)	R48Q	probably benign	Het
Siae	T	C	9: 37,534,309 (GRCm39)	V115A	probably damaging	Het
Slc16a6	A	G	11: 109,344,107 (GRCm39)	C563R	probably benign	Het
Sntg1	A	C	1: 8,752,243 (GRCm39)	V58G	possibly damaging	Het
Snx11	C	T	11: 96,663,985 (GRCm39)	V36M	probably damaging	Het
Stk3	C	A	15: 34,959,182 (GRCm39)	S330I	probably benign	Het
Synpo	A	G	18: 60,762,631 (GRCm39)	F92S	probably benign	Het
Tle1	A	G	4: 72,057,924 (GRCm39)		probably null	Het
Tmem117	A	G	15: 94,829,684 (GRCm39)	D173G	possibly damaging	Het
Tmem217b	C	A	17: 29,738,347 (GRCm39)	V140L	probably benign	Het
Tmprss5	T	C	9: 49,025,841 (GRCm39)	W338R	probably benign	Het
Tnfrsf19	T	C	14: 61,212,147 (GRCm39)	T168A	possibly damaging	Het
Trhde	C	T	10: 114,636,776 (GRCm39)	G144S	possibly damaging	Het
Trim56	G	T	5: 137,143,097 (GRCm39)	Q140K	probably damaging	Het
Ttn	C	T	2: 76,562,918 (GRCm39)	V28679M	probably damaging	Het
Ubxn8	G	A	8: 34,113,231 (GRCm39)	R208C	probably damaging	Het
Vmn2r72	G	T	7: 85,387,482 (GRCm39)	S694*	probably null	Het
Wdr38	T	A	2: 38,890,276 (GRCm39)	W137R	probably damaging	Het
Zdhhc6	G	T	19: 55,292,932 (GRCm39)	N271K	probably damaging	Het
Zfyve9	A	G	4: 108,575,744 (GRCm39)	S446P	possibly damaging	Het
Zmynd8	T	C	2: 165,649,492 (GRCm39)	Q867R	possibly damaging	Het
Zswim3	T	C	2: 164,662,402 (GRCm39)	I294T	probably benign	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
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'- TCTCAGCCTCTTACTTGGGGAC -3'
(R):5'- TGTGCTAAGCAGTCTGGGAG -3'

Sequencing Primer
(F):5'- ACTTCTTACGTAGGCAAGGATGTCC -3'
(R):5'- TAAGCAGTCTGGGAGGCCTC -3'

Posted On

2019-06-26