Mutagenetix > Incidental Mutation

Incidental Mutation 'R6013:Kctd3'

479840

Institutional Source

Beutler Lab

Gene Symbol

Kctd3

Ensembl Gene

ENSMUSG00000026608

Gene Name

potassium channel tetramerisation domain containing 3

Synonyms

4930438A20Rik, E330032J19Rik, NY-REN-45

MMRRC Submission

044189-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.248) question?

Stock #

R6013 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

188703292-188740038 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 188728665 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 157 (E157G)

Ref Sequence

ENSEMBL: ENSMUSP00000082821 (fasta)

Gene Model

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

AlphaFold

Q8BFX3

Predicted Effect

probably benign
Transcript: ENSMUST00000085678
AA Change: E157G

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000082821
Gene: ENSMUSG00000026608
AA Change: E157G

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

probably benign
Transcript: ENSMUST00000193143
AA Change: E157G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000141861
Gene: ENSMUSG00000026608
AA Change: E157G

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: ENSMUST00000193273

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000195787

Meta Mutation Damage Score

0.0587

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.1%
20x: 94.5%

Validation Efficiency

98% (54/55)

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: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700008P02Rik	C	T	3: 6,682,310 (GRCm39)		probably null	Het
Aanat	A	T	11: 116,486,950 (GRCm39)		probably null	Het
Abca17	A	T	17: 24,506,820 (GRCm39)	V1178E	possibly damaging	Het
Abcf3	T	A	16: 20,369,311 (GRCm39)		probably null	Het
Alk	A	G	17: 72,207,732 (GRCm39)	M1001T	probably benign	Het
Arhgap23	C	A	11: 97,391,818 (GRCm39)	S1445Y	probably damaging	Het
Atp10a	T	C	7: 58,447,538 (GRCm39)	I760T	probably benign	Het
Cadm1	C	T	9: 47,768,572 (GRCm39)		probably benign	Het
Car10	A	T	11: 93,076,105 (GRCm39)		probably benign	Het
Casq2	G	T	3: 102,052,945 (GRCm39)		probably null	Het
Cemip2	G	A	19: 21,809,403 (GRCm39)	V928I	possibly damaging	Het
Clec4f	T	C	6: 83,632,070 (GRCm39)	I55V	probably benign	Het
Cngb1	T	C	8: 96,010,949 (GRCm39)		probably benign	Het
Csn1s2b	A	G	5: 87,972,098 (GRCm39)		probably null	Het
Cyp2c39	A	C	19: 39,501,969 (GRCm39)	R119S	probably benign	Het
Cyp4f16	C	T	17: 32,765,652 (GRCm39)	A345V	probably null	Het
Ddx43	T	C	9: 78,321,567 (GRCm39)	L412S	probably damaging	Het
Dnajb12	G	A	10: 59,730,163 (GRCm39)		probably null	Het
Ephx2	A	G	14: 66,347,691 (GRCm39)	S56P	probably benign	Het
Fam83h	A	G	15: 75,875,849 (GRCm39)	F496S	probably damaging	Het
Gcnt4	T	C	13: 97,083,786 (GRCm39)	S361P	possibly damaging	Het
H2-T23	G	T	17: 36,341,474 (GRCm39)	H332Q	probably benign	Het
Hrob	T	C	11: 102,145,859 (GRCm39)	V45A	probably benign	Het
Ift57	G	T	16: 49,519,667 (GRCm39)		probably null	Het
Il1rl2	A	G	1: 40,391,017 (GRCm39)	H320R	possibly damaging	Het
Kansl1	A	G	11: 104,241,465 (GRCm39)	V618A	probably benign	Het
Magohb	T	A	6: 131,270,037 (GRCm39)	D31V	possibly damaging	Het
Mdn1	C	A	4: 32,715,713 (GRCm39)	F1993L	probably damaging	Het
Med29	C	A	7: 28,086,418 (GRCm39)	C130F	probably benign	Het
Mtmr7	G	A	8: 41,034,570 (GRCm39)	R251C	probably damaging	Het
Ncor1	T	C	11: 62,211,903 (GRCm39)	I49V	probably benign	Het
Nfkb1	G	T	3: 135,332,445 (GRCm39)	T109K	possibly damaging	Het
Pkd1l1	A	G	11: 8,819,452 (GRCm39)		probably null	Het
Pkp1	T	A	1: 135,811,648 (GRCm39)	T408S	probably damaging	Het
Plec	A	T	15: 76,073,510 (GRCm39)	D501E	possibly damaging	Het
Prcp	A	C	7: 92,576,976 (GRCm39)	Y335S	possibly damaging	Het
Reg2	T	A	6: 78,384,952 (GRCm39)	Y165N	possibly damaging	Het
Rnf7	T	C	9: 96,353,787 (GRCm39)	*114W	probably null	Het
Scg3	T	C	9: 75,584,090 (GRCm39)	D137G	probably damaging	Het
Serpinb7	T	C	1: 107,377,919 (GRCm39)	V204A	probably benign	Het
Sez6	C	T	11: 77,864,623 (GRCm39)	H528Y	probably damaging	Het
Sf3b1	A	T	1: 55,039,457 (GRCm39)	S723T	probably damaging	Het
Shtn1	T	C	19: 58,963,533 (GRCm39)	D594G	probably damaging	Het
Sptbn4	A	G	7: 27,063,904 (GRCm39)	L2174P	probably damaging	Het
Stk25	A	G	1: 93,553,181 (GRCm39)		probably null	Het
Tep1	A	T	14: 51,098,505 (GRCm39)	F429I	probably damaging	Het
Thada	T	A	17: 84,580,228 (GRCm39)	I1409F	probably benign	Het
Usp25	G	A	16: 76,873,909 (GRCm39)	G495E	probably benign	Het
Washc2	A	G	6: 116,231,114 (GRCm39)	S844G	probably damaging	Het
Xirp2	A	T	2: 67,341,287 (GRCm39)	H1176L	possibly damaging	Het
Ypel1	T	C	16: 16,918,129 (GRCm39)	N96D	probably damaging	Het
Zfand6	C	A	7: 84,281,900 (GRCm39)	V110L	probably benign	Het
Zfp30	A	G	7: 29,488,846 (GRCm39)	R8G	possibly damaging	Het

Other mutations in Kctd3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00757:Kctd3	APN	1	188,704,393 (GRCm39)	missense	probably damaging	1.00
IGL00766:Kctd3	APN	1	188,727,973 (GRCm39)	missense	probably benign	0.29
IGL01393:Kctd3	APN	1	188,732,487 (GRCm39)	missense	probably benign	0.03
IGL01874:Kctd3	APN	1	188,729,188 (GRCm39)	missense	probably damaging	1.00
IGL01966:Kctd3	APN	1	188,724,859 (GRCm39)	missense	probably damaging	1.00
3-1:Kctd3	UTSW	1	188,704,454 (GRCm39)	nonsense	probably null
R0026:Kctd3	UTSW	1	188,708,818 (GRCm39)	missense	probably damaging	1.00
R0142:Kctd3	UTSW	1	188,728,595 (GRCm39)	critical splice donor site	probably null
R0619:Kctd3	UTSW	1	188,710,840 (GRCm39)	missense	probably damaging	1.00
R0621:Kctd3	UTSW	1	188,713,538 (GRCm39)	missense	probably damaging	1.00
R0733:Kctd3	UTSW	1	188,729,247 (GRCm39)	splice site	probably benign
R0843:Kctd3	UTSW	1	188,729,170 (GRCm39)	nonsense	probably null
R2393:Kctd3	UTSW	1	188,713,568 (GRCm39)	missense	probably damaging	1.00
R4004:Kctd3	UTSW	1	188,724,940 (GRCm39)	missense	probably benign	0.06
R4005:Kctd3	UTSW	1	188,734,124 (GRCm39)	missense	possibly damaging	0.96
R4091:Kctd3	UTSW	1	188,727,917 (GRCm39)	intron	probably benign
R4784:Kctd3	UTSW	1	188,706,665 (GRCm39)	missense	probably damaging	1.00
R5062:Kctd3	UTSW	1	188,727,890 (GRCm39)	intron	probably benign
R5488:Kctd3	UTSW	1	188,713,563 (GRCm39)	missense	probably damaging	1.00
R6310:Kctd3	UTSW	1	188,704,435 (GRCm39)	missense	probably benign	0.00
R6478:Kctd3	UTSW	1	188,704,561 (GRCm39)	missense	probably benign
R6703:Kctd3	UTSW	1	188,728,726 (GRCm39)	missense	probably damaging	1.00
R7882:Kctd3	UTSW	1	188,715,243 (GRCm39)	missense	possibly damaging	0.62
R8368:Kctd3	UTSW	1	188,704,404 (GRCm39)	missense	probably benign	0.32
R9189:Kctd3	UTSW	1	188,704,636 (GRCm39)	missense	possibly damaging	0.65
R9352:Kctd3	UTSW	1	188,704,777 (GRCm39)	missense	probably damaging	0.97
R9759:Kctd3	UTSW	1	188,710,786 (GRCm39)	missense	probably damaging	1.00
X0019:Kctd3	UTSW	1	188,704,786 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TCAGTACATCAGCACTCAGC -3'
(R):5'- TTGTGCACCATTGTGAGAGAG -3'

Sequencing Primer
(F):5'- CAGCCCCTTTGCCATAGG -3'
(R):5'- AGAGGTGTGGTTTTTGAAAAGATCC -3'

Posted On

2017-06-26