Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03132:Kctd17'

410388

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Kctd17

Ensembl Gene

ENSMUSG00000033287

Gene Name

potassium channel tetramerisation domain containing 17

Synonyms

2900008M13Rik

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL03132

Quality Score

Status

Chromosome

Chromosomal Location

78312764-78323503 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 78319887 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 102 (S102P)

Ref Sequence

ENSEMBL: ENSMUSP00000155643 (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

possibly damaging
Transcript: ENSMUST00000089414
AA Change: S204P

PolyPhen 2 Score 0.621 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000086835
Gene: ENSMUSG00000033287
AA Change: S204P

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

possibly damaging
Transcript: ENSMUST00000159771
AA Change: S197P

PolyPhen 2 Score 0.857 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000125574
Gene: ENSMUSG00000033287
AA Change: S197P

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 damaging
Transcript: ENSMUST00000162321
AA Change: S158P

PolyPhen 2 Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000125680
Gene: ENSMUSG00000033287
AA Change: S158P

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: S204P

PolyPhen 2 Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000124290
Gene: ENSMUSG00000033287
AA Change: S204P

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 damaging
Transcript: ENSMUST00000162808
AA Change: S119P

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000125421
Gene: ENSMUSG00000033287
AA Change: S119P

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: S204P

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000133210
Gene: ENSMUSG00000033287
AA Change: S204P

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000162605

Predicted Effect

probably damaging
Transcript: ENSMUST00000229290
AA Change: S102P

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000229622
AA Change: S131P

PolyPhen 2 Score 0.967 (Sensitivity: 0.77; Specificity: 0.95)

Predicted Effect

probably benign
Transcript: ENSMUST00000230020

Predicted Effect

probably benign
Transcript: ENSMUST00000230226

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: 29 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abtb1	G	A	6: 88,815,941 (GRCm39)	R177C	probably benign	Het
Adam21	C	A	12: 81,607,148 (GRCm39)	G205*	probably null	Het
Baz2b	T	A	2: 59,738,097 (GRCm39)		probably benign	Het
Col6a3	C	T	1: 90,731,615 (GRCm39)	G939D	probably damaging	Het
Csf1r	A	G	18: 61,261,171 (GRCm39)	E749G	probably benign	Het
Dnm3	C	T	1: 161,838,674 (GRCm39)		probably null	Het
Dsg3	A	G	18: 20,657,653 (GRCm39)	D241G	probably damaging	Het
Dst	T	C	1: 34,295,722 (GRCm39)	S6015P	probably benign	Het
Dvl2	T	C	11: 69,896,514 (GRCm39)	S183P	probably benign	Het
Exoc6b	T	C	6: 84,768,246 (GRCm39)	N699S	possibly damaging	Het
Fat2	T	C	11: 55,144,746 (GRCm39)	R4043G	probably benign	Het
Gbp9	T	A	5: 105,232,819 (GRCm39)	T278S	possibly damaging	Het
Gm2a	T	A	11: 54,994,474 (GRCm39)	I48N	probably damaging	Het
Gorasp2	T	C	2: 70,514,379 (GRCm39)	V232A	probably benign	Het
Gpa33	G	A	1: 165,980,218 (GRCm39)	D94N	probably benign	Het
Il1rap	A	T	16: 26,498,869 (GRCm39)	S123C	probably damaging	Het
Lamb1	A	G	12: 31,350,333 (GRCm39)		probably null	Het
Mfsd1	T	A	3: 67,495,273 (GRCm39)	I131K	possibly damaging	Het
Pkhd1l1	G	A	15: 44,438,013 (GRCm39)	C3576Y	probably damaging	Het
Pla2g4a	A	T	1: 149,778,035 (GRCm39)		probably benign	Het
Ptpn11	T	A	5: 121,272,878 (GRCm39)	D575V	possibly damaging	Het
Reck	A	T	4: 43,938,898 (GRCm39)	R755*	probably null	Het
Scgb2b21	A	G	7: 33,219,299 (GRCm39)	V35A	possibly damaging	Het
Srpra	G	A	9: 35,125,574 (GRCm39)		probably null	Het
Stk11ip	T	C	1: 75,512,733 (GRCm39)	S1025P	probably benign	Het
Tmprss9	G	A	10: 80,730,699 (GRCm39)	V742M	probably damaging	Het
Trh	T	C	6: 92,220,755 (GRCm39)	T36A	probably benign	Het
Trim35	A	G	14: 66,546,595 (GRCm39)	E454G	probably damaging	Het
Vmn2r99	C	T	17: 19,598,485 (GRCm39)	Q170*	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
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
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

Posted On

2016-08-02