Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02831:Kctd2'

361420

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Kctd2

Ensembl Gene

ENSMUSG00000016940

Gene Name

potassium channel tetramerisation domain containing 2

Synonyms

2310012I15Rik

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.533) question?

Stock #

IGL02831

Quality Score

Status

Chromosome

Chromosomal Location

115310954-115322100 bp(+) (GRCm39)

Type of Mutation

makesense

DNA Base Change (assembly)

T to A at 115321166 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Stop codon to Lysine at position 264 (*264K)

Ref Sequence

ENSEMBL: ENSMUSP00000099324 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000103035] [ENSMUST00000106533]

AlphaFold

no structure available at present

Predicted Effect

probably null
Transcript: ENSMUST00000103035
AA Change: *264K

SMART Domains

Protein: ENSMUSP00000099324
Gene: ENSMUSG00000016940
AA Change: *264K

Domain	Start	End	E-Value	Type
low complexity region	8	43	N/A	INTRINSIC
low complexity region	46	71	N/A	INTRINSIC
BTB	72	175	3.45e-19	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000106533

SMART Domains

Protein: ENSMUSP00000102143
Gene: ENSMUSG00000016940

Domain	Start	End	E-Value	Type
low complexity region	8	43	N/A	INTRINSIC
low complexity region	46	71	N/A	INTRINSIC
BTB	72	175	3.45e-19	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000123345

SMART Domains

Protein: ENSMUSP00000115862
Gene: ENSMUSG00000016940

Domain	Start	End	E-Value	Type
low complexity region	4	39	N/A	INTRINSIC
low complexity region	42	67	N/A	INTRINSIC
BTB	68	171	3.45e-19	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000143775

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca8a	C	T	11: 109,943,907 (GRCm39)	V1121M	probably damaging	Het
Acrbp	C	A	6: 125,038,212 (GRCm39)	T471N	possibly damaging	Het
Blnk	C	T	19: 40,950,873 (GRCm39)	D93N	probably damaging	Het
Casp7	A	G	19: 56,392,855 (GRCm39)	D3G	probably benign	Het
Coro1c	A	T	5: 113,982,469 (GRCm39)	C456S	probably benign	Het
Dlec1	T	G	9: 118,972,983 (GRCm39)	L1499R	probably damaging	Het
Dnah8	T	C	17: 30,931,250 (GRCm39)	S1422P	probably benign	Het
Exd1	T	C	2: 119,359,235 (GRCm39)	D216G	probably damaging	Het
Fhit	T	C	14: 9,870,080 (GRCm38)	T130A	probably benign	Het
Frem1	A	T	4: 82,874,395 (GRCm39)	M1409K	probably benign	Het
Fut2	C	T	7: 45,300,193 (GRCm39)	G193E	possibly damaging	Het
Glb1l2	A	G	9: 26,678,746 (GRCm39)	V465A	probably benign	Het
Ints8	T	C	4: 11,245,896 (GRCm39)	Q194R	possibly damaging	Het
Ip6k2	C	T	9: 108,681,733 (GRCm39)		probably benign	Het
Krt34	C	A	11: 99,930,973 (GRCm39)		probably benign	Het
Lamc1	A	G	1: 153,122,801 (GRCm39)	S760P	probably benign	Het
Lrp1b	T	C	2: 41,083,603 (GRCm39)	N1702S	probably damaging	Het
Lrrc8e	T	A	8: 4,285,429 (GRCm39)	S551R	probably damaging	Het
Map3k20	T	C	2: 72,202,071 (GRCm39)	V139A	probably damaging	Het
Mrtfa	A	G	15: 80,988,994 (GRCm39)	L9P	probably benign	Het
Napsa	A	G	7: 44,236,184 (GRCm39)	T408A	probably benign	Het
Or2h15	T	C	17: 38,441,403 (GRCm39)	K227E	probably benign	Het
Or2w6	T	C	13: 21,843,074 (GRCm39)	I140V	probably benign	Het
Or5l13	T	C	2: 87,780,020 (GRCm39)		probably null	Het
Panx1	A	G	9: 14,918,944 (GRCm39)	L305P	probably damaging	Het
Pkhd1l1	A	G	15: 44,364,889 (GRCm39)	H676R	probably benign	Het
Pld1	T	A	3: 28,130,574 (GRCm39)	V458E	probably damaging	Het
Ppp5c	A	G	7: 16,742,570 (GRCm39)	L256P	probably damaging	Het
Pyroxd2	G	T	19: 42,724,342 (GRCm39)	T307K	probably damaging	Het
Scart1	G	T	7: 139,808,434 (GRCm39)	V782L	probably benign	Het
Sin3b	A	G	8: 73,471,190 (GRCm39)	E379G	probably damaging	Het
Slc22a23	T	C	13: 34,483,052 (GRCm39)	T276A	possibly damaging	Het
Slc26a3	T	C	12: 31,502,628 (GRCm39)	I283T	probably damaging	Het
Sltm	A	G	9: 70,492,147 (GRCm39)	D712G	probably damaging	Het
Slu7	C	T	11: 43,333,480 (GRCm39)	Q367*	probably null	Het
Srbd1	T	C	17: 86,311,299 (GRCm39)	N706S	probably damaging	Het
Supt16	A	T	14: 52,408,335 (GRCm39)	M870K	possibly damaging	Het
Tnxb	T	C	17: 34,922,545 (GRCm39)	Y2453H	possibly damaging	Het
Tomm40	A	G	7: 19,437,014 (GRCm39)	Y274H	probably damaging	Het
Utp20	A	T	10: 88,651,770 (GRCm39)	D404E	probably benign	Het
Vmn2r23	T	A	6: 123,681,344 (GRCm39)	M84K	probably benign	Het
Wdr70	A	G	15: 7,913,787 (GRCm39)	Y621H	possibly damaging	Het
Wfdc8	C	T	2: 164,447,685 (GRCm39)		probably null	Het

Other mutations in Kctd2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL03274:Kctd2	APN	11	115,320,208 (GRCm39)	missense	possibly damaging	0.68
R0066:Kctd2	UTSW	11	115,320,343 (GRCm39)	intron	probably benign
R0066:Kctd2	UTSW	11	115,320,343 (GRCm39)	intron	probably benign
R3888:Kctd2	UTSW	11	115,318,345 (GRCm39)	missense	probably damaging	1.00
R4393:Kctd2	UTSW	11	115,320,326 (GRCm39)	intron	probably benign
R4868:Kctd2	UTSW	11	115,320,205 (GRCm39)	missense	probably damaging	0.99
R7248:Kctd2	UTSW	11	115,312,845 (GRCm39)	missense	possibly damaging	0.46
R8254:Kctd2	UTSW	11	115,311,174 (GRCm39)	missense	unknown
R8485:Kctd2	UTSW	11	115,320,434 (GRCm39)	intron	probably benign
R8527:Kctd2	UTSW	11	115,320,310 (GRCm39)	intron	probably benign
R8542:Kctd2	UTSW	11	115,320,310 (GRCm39)	intron	probably benign
R8768:Kctd2	UTSW	11	115,311,279 (GRCm39)	missense	probably damaging	1.00
R9429:Kctd2	UTSW	11	115,318,277 (GRCm39)	missense	probably damaging	1.00
Z1088:Kctd2	UTSW	11	115,312,813 (GRCm39)	missense	possibly damaging	0.93

Posted On

2015-12-18