Mutagenetix > Incidental Mutation

Incidental Mutation 'R0026:Kctd3'

189160

Institutional Source

Beutler Lab

Gene Symbol

Kctd3

Ensembl Gene

ENSMUSG00000026608

Gene Name

potassium channel tetramerisation domain containing 3

Synonyms

E330032J19Rik, NY-REN-45, 4930438A20Rik

MMRRC Submission

038321-MU

Accession Numbers

Genbank: NM_172650; MGI: 2444629

Essential gene?

Possibly non essential (E-score: 0.317) question?

Stock #

R0026 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

188971095-189007841 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 188976621 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 519 (T519A)

Ref Sequence

ENSEMBL: ENSMUSP00000082821 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000085678] [ENSMUST00000192458] [ENSMUST00000193143]

AlphaFold

Q8BFX3

Predicted Effect

probably damaging
Transcript: ENSMUST00000085678
AA Change: T519A

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

SMART Domains

Protein: ENSMUSP00000082821
Gene: ENSMUSG00000026608
AA Change: T519A

Domain	Start	End	E-Value	Type
low complexity region	2	17	N/A	INTRINSIC
BTB	18	118	1.74e-15	SMART
Blast:WD40	184	263	5e-50	BLAST
WD40	269	305	1.32e2	SMART
WD40	411	449	7.43e-1	SMART
WD40	519	569	2.66e0	SMART
low complexity region	619	637	N/A	INTRINSIC
low complexity region	774	801	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000192200

Predicted Effect

probably damaging
Transcript: ENSMUST00000192458
AA Change: T11A

PolyPhen 2 Score 0.968 (Sensitivity: 0.77; Specificity: 0.95)

Predicted Effect

probably benign
Transcript: ENSMUST00000193143
AA Change: T519A

PolyPhen 2 Score 0.450 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000141861
Gene: ENSMUSG00000026608
AA Change: T519A

Domain	Start	End	E-Value	Type
low complexity region	2	17	N/A	INTRINSIC
BTB	18	118	1.1e-17	SMART
Blast:WD40	184	263	3e-49	BLAST
WD40	269	305	8.1e-1	SMART
WD40	411	449	4.7e-3	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000193590

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000195488

Predicted Effect

unknown
Transcript: ENSMUST00000195658
AA Change: T63A

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000195745

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000195787

Meta Mutation Damage Score

0.1258

Coding Region Coverage

1x: 99.3%
3x: 98.9%
10x: 97.8%
20x: 96.3%

Validation Efficiency

93% (70/75)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the potassium channel tetramerization-domain containing (KCTD) protein family. Members of this protein family regulate the biophysical characteristics of ion channels. In mouse, this protein interacts with hyperpolarization-activated cyclic nucleotide-gated channel complex 3 and enhances its cell surface expression and current density. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2016]

Allele List at MGI

All alleles(18) : Gene trapped(18)

Other mutations in this stock

Total: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110002E22Rik	T	A	3: 138,066,805 (GRCm38)	I585N	possibly damaging	Het
4931408C20Rik	T	A	1: 26,683,369 (GRCm38)	D910V	probably benign	Het
A830005F24Rik	C	T	13: 48,514,372 (GRCm38)		probably benign	Het
Abca16	C	T	7: 120,477,923 (GRCm38)		probably benign	Het
Acot10	G	A	15: 20,666,236 (GRCm38)	L140F	probably benign	Het
Adam19	G	T	11: 46,136,259 (GRCm38)	C573F	probably damaging	Het
Aff3	A	G	1: 38,203,893 (GRCm38)	S948P	probably benign	Het
Anxa3	T	A	5: 96,838,401 (GRCm38)	Y300N	probably benign	Het
BC016579	T	C	16: 45,640,367 (GRCm38)	T113A	probably benign	Het
Bmpr1b	A	G	3: 141,870,733 (GRCm38)	L113P	probably benign	Het
Casq1	T	C	1: 172,219,400 (GRCm38)		probably benign	Het
Cdc16	T	A	8: 13,759,130 (GRCm38)		probably null	Het
Cep135	C	T	5: 76,606,734 (GRCm38)	R353*	probably null	Het
Cma1	A	T	14: 55,942,164 (GRCm38)	C188S	probably damaging	Het
Csf3r	A	G	4: 126,031,884 (GRCm38)	T151A	probably benign	Het
Cyp4b1	C	T	4: 115,647,521 (GRCm38)	G56D	possibly damaging	Het
Dbn1	T	C	13: 55,477,784 (GRCm38)	E275G	probably damaging	Het
Dlgap2	C	T	8: 14,727,363 (GRCm38)	Q203*	probably null	Het
Ephb3	A	G	16: 21,214,917 (GRCm38)	D251G	probably damaging	Het
Fancd2os	G	T	6: 113,597,691 (GRCm38)	T118N	probably damaging	Het
Gm10801	T	C	2: 98,663,909 (GRCm38)		probably benign	Het
Got1l1	C	T	8: 27,200,248 (GRCm38)	V132I	probably benign	Het
H2-M9	T	C	17: 36,641,527 (GRCm38)		probably benign	Het
Ibtk	A	G	9: 85,690,303 (GRCm38)	V1278A	probably benign	Het
Lgsn	T	A	1: 31,203,443 (GRCm38)	V202D	probably damaging	Het
Madd	A	G	2: 91,175,708 (GRCm38)	F381L	possibly damaging	Het
Map1s	G	A	8: 70,914,638 (GRCm38)	G729D	probably damaging	Het
Mlycd	A	G	8: 119,410,435 (GRCm38)	I465V	probably benign	Het
Mrgprb1	T	C	7: 48,447,204 (GRCm38)	R108G	possibly damaging	Het
Mrgprx2	T	A	7: 48,482,023 (GRCm38)	H106L	possibly damaging	Het
Ncor1	T	C	11: 62,438,429 (GRCm38)	Y6C	probably damaging	Het
Nfkb1	T	C	3: 135,591,573 (GRCm38)	D773G	probably damaging	Het
Nxnl1	A	G	8: 71,566,573 (GRCm38)	S3P	probably damaging	Het
Olfr109	T	A	17: 37,466,803 (GRCm38)	V199D	probably damaging	Het
Olfr921	G	A	9: 38,775,596 (GRCm38)	V114I	probably benign	Het
Otud7a	T	C	7: 63,735,801 (GRCm38)	F338L	probably benign	Het
Pdcl3	T	A	1: 38,991,280 (GRCm38)	L14Q	probably damaging	Het
Pla2g7	T	A	17: 43,594,930 (GRCm38)		probably benign	Het
Prpf31	T	A	7: 3,639,668 (GRCm38)	N413K	probably benign	Het
Rapgef5	T	C	12: 117,689,161 (GRCm38)	S307P	probably benign	Het
Relt	C	A	7: 100,850,221 (GRCm38)	E164*	probably null	Het
Rnf185	T	C	11: 3,426,617 (GRCm38)	D86G	probably damaging	Het
Rrm2b	T	C	15: 37,953,741 (GRCm38)	E21G	probably benign	Het
Scn5a	A	G	9: 119,522,566 (GRCm38)	I783T	probably damaging	Het
Senp1	T	C	15: 98,076,668 (GRCm38)	R88G	probably damaging	Het
Skint5	A	T	4: 113,546,468 (GRCm38)		probably benign	Het
Slc35b1	T	C	11: 95,390,642 (GRCm38)	S294P	probably benign	Het
Slc5a2	T	A	7: 128,270,053 (GRCm38)	I335N	probably damaging	Het
Sstr1	T	A	12: 58,212,858 (GRCm38)	M89K	probably damaging	Het
Szt2	A	T	4: 118,384,772 (GRCm38)	S1612R	possibly damaging	Het
Taf1c	T	C	8: 119,604,236 (GRCm38)		probably null	Het
Taf1d	T	A	9: 15,308,648 (GRCm38)	S64R	probably damaging	Het
Tmem125	A	G	4: 118,542,073 (GRCm38)	S54P	possibly damaging	Het
Ttf1	T	A	2: 29,071,349 (GRCm38)	I583N	possibly damaging	Het
Uchl4	A	T	9: 64,235,371 (GRCm38)		probably null	Het
Unc5b	A	T	10: 60,774,592 (GRCm38)	I482N	possibly damaging	Het
Unc80	C	A	1: 66,521,584 (GRCm38)	Q824K	probably benign	Het
Utrn	T	C	10: 12,726,196 (GRCm38)		probably benign	Het
Vmn2r61	T	G	7: 42,275,474 (GRCm38)	I484R	possibly damaging	Het
Vps13b	T	C	15: 35,923,301 (GRCm38)	I3774T	possibly damaging	Het
Yipf1	T	A	4: 107,345,160 (GRCm38)	L240*	probably null	Het

Other mutations in Kctd3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00757:Kctd3	APN	1	188,972,196 (GRCm38)	missense	probably damaging	1.00
IGL00766:Kctd3	APN	1	188,995,776 (GRCm38)	missense	probably benign	0.29
IGL01393:Kctd3	APN	1	189,000,290 (GRCm38)	missense	probably benign	0.03
IGL01874:Kctd3	APN	1	188,996,991 (GRCm38)	missense	probably damaging	1.00
IGL01966:Kctd3	APN	1	188,992,662 (GRCm38)	missense	probably damaging	1.00
3-1:Kctd3	UTSW	1	188,972,257 (GRCm38)	nonsense	probably null
R0142:Kctd3	UTSW	1	188,996,398 (GRCm38)	critical splice donor site	probably null
R0619:Kctd3	UTSW	1	188,978,643 (GRCm38)	missense	probably damaging	1.00
R0621:Kctd3	UTSW	1	188,981,341 (GRCm38)	missense	probably damaging	1.00
R0733:Kctd3	UTSW	1	188,997,050 (GRCm38)	splice site	probably benign
R0843:Kctd3	UTSW	1	188,996,973 (GRCm38)	nonsense	probably null
R2393:Kctd3	UTSW	1	188,981,371 (GRCm38)	missense	probably damaging	1.00
R4004:Kctd3	UTSW	1	188,992,743 (GRCm38)	missense	probably benign	0.06
R4005:Kctd3	UTSW	1	189,001,927 (GRCm38)	missense	possibly damaging	0.96
R4091:Kctd3	UTSW	1	188,995,720 (GRCm38)	intron	probably benign
R4784:Kctd3	UTSW	1	188,974,468 (GRCm38)	missense	probably damaging	1.00
R5062:Kctd3	UTSW	1	188,995,693 (GRCm38)	intron	probably benign
R5488:Kctd3	UTSW	1	188,981,366 (GRCm38)	missense	probably damaging	1.00
R6013:Kctd3	UTSW	1	188,996,468 (GRCm38)	missense	probably benign	0.00
R6310:Kctd3	UTSW	1	188,972,238 (GRCm38)	missense	probably benign	0.00
R6478:Kctd3	UTSW	1	188,972,364 (GRCm38)	missense	probably benign
R6703:Kctd3	UTSW	1	188,996,529 (GRCm38)	missense	probably damaging	1.00
R7882:Kctd3	UTSW	1	188,983,046 (GRCm38)	missense	possibly damaging	0.62
R8368:Kctd3	UTSW	1	188,972,207 (GRCm38)	missense	probably benign	0.32
R9189:Kctd3	UTSW	1	188,972,439 (GRCm38)	missense	possibly damaging	0.65
R9352:Kctd3	UTSW	1	188,972,580 (GRCm38)	missense	probably damaging	0.97
R9759:Kctd3	UTSW	1	188,978,589 (GRCm38)	missense	probably damaging	1.00
X0019:Kctd3	UTSW	1	188,972,589 (GRCm38)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ACACACCTAATGGAGACACGCTTG -3'
(R):5'- TGCTGGGAAGAGGAGTGTCAGTATC -3'

Sequencing Primer
(F):5'- GTCCCATCCAGGGTCATTATG -3'
(R):5'- AGAGGAGTGTCAGTATCAGTGTG -3'

Posted On

2014-05-13