Mutagenetix > Incidental Mutation

Incidental Mutation 'R7411:Kctd7'

575067

Institutional Source

Beutler Lab

Gene Symbol

Kctd7

Ensembl Gene

ENSMUSG00000034110

Gene Name

potassium channel tetramerisation domain containing 7

Synonyms

MMRRC Submission

045492-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7411 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

130144861-130155806 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 130152424 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Methionine at position 209 (T209M)

Ref Sequence

ENSEMBL: ENSMUSP00000121490 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000040616] [ENSMUST00000144467] [ENSMUST00000144878]

AlphaFold

Q8BJK1

Predicted Effect

silent
Transcript: ENSMUST00000040616

SMART Domains

Protein: ENSMUSP00000044568
Gene: ENSMUSG00000034110

Domain	Start	End	E-Value	Type
BTB	51	149	1.59e-9	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000144467
AA Change: T209M

PolyPhen 2 Score 0.369 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000121490
Gene: ENSMUSG00000034110
AA Change: T209M

Domain	Start	End	E-Value	Type
BTB	44	142	1.59e-9	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000144878

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 member of the potassium channel tetramerization domain-containing protein family. Family members are identified on a structural basis and contain an amino-terminal domain similar to the T1 domain present in the voltage-gated potassium channel. Mutations in this gene have been associated with progressive myoclonic epilepsy-3. Alternative splicing results in multiple transcript variants.[provided by RefSeq, Jan 2011]

Allele List at MGI

Other mutations in this stock

Total: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1810055G02Rik	C	T	19: 3,717,241 (GRCm38)	T276I	possibly damaging	Het
9130011E15Rik	A	C	19: 45,965,435 (GRCm38)	V170G	probably benign	Het
Abca17	A	G	17: 24,328,569 (GRCm38)	I277T	possibly damaging	Het
Abcb11	C	T	2: 69,303,936 (GRCm38)		probably null	Het
Abcc12	C	A	8: 86,560,850 (GRCm38)	R122L	possibly damaging	Het
Abcc8	A	G	7: 46,165,917 (GRCm38)		probably null	Het
Adam28	C	T	14: 68,626,947 (GRCm38)	R469K	probably damaging	Het
Adamts18	T	C	8: 113,777,730 (GRCm38)	Y243C	probably damaging	Het
Agbl3	T	C	6: 34,814,819 (GRCm38)	S619P	probably damaging	Het
Alpk3	A	T	7: 81,092,852 (GRCm38)	T806S	probably benign	Het
Atoh1	T	A	6: 64,729,930 (GRCm38)	I203N	probably damaging	Het
Cables1	A	G	18: 11,840,515 (GRCm38)	E237G	probably benign	Het
Cacna1d	A	G	14: 30,352,990 (GRCm38)	M1T	probably null	Het
Ccdc91	C	T	6: 147,592,198 (GRCm38)	Q363*	probably null	Het
Ceacam5	T	A	7: 17,750,753 (GRCm38)	D473E	probably damaging	Het
Cfap54	T	A	10: 92,868,755 (GRCm38)	D2821V	unknown	Het
Clca3a2	A	G	3: 144,802,099 (GRCm38)	S737P	probably damaging	Het
Clec4n	T	A	6: 123,232,186 (GRCm38)	M70K	probably benign	Het
Dstyk	G	A	1: 132,417,666 (GRCm38)	G21S	probably benign	Het
Enpp5	A	G	17: 44,081,475 (GRCm38)	D265G	probably damaging	Het
Gabrb1	T	C	5: 72,122,195 (GRCm38)		probably null	Het
Gm11639	T	G	11: 104,999,723 (GRCm38)	N4210K	probably benign	Het
Gm28710	A	T	5: 16,824,765 (GRCm38)	T500S	possibly damaging	Het
Gm40460	CACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG	CACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG	7: 142,240,817 (GRCm38)		probably benign	Het
Gm5861	T	A	5: 11,183,149 (GRCm38)		probably null	Het
Gm9513	T	C	9: 36,475,684 (GRCm38)	V16A	possibly damaging	Het
Guk1	A	G	11: 59,185,985 (GRCm38)	F91L		Het
Ints1	C	T	5: 139,764,260 (GRCm38)	E961K	possibly damaging	Het
Irx2	T	A	13: 72,629,063 (GRCm38)	M1K	probably null	Het
Jrk	C	T	15: 74,707,199 (GRCm38)	R79H	possibly damaging	Het
Kcnu1	G	T	8: 25,892,088 (GRCm38)	V489L	probably damaging	Het
Kdm5a	T	A	6: 120,426,815 (GRCm38)	V1127E	probably damaging	Het
Klk6	A	G	7: 43,826,943 (GRCm38)	H69R	probably damaging	Het
Lck	T	C	4: 129,551,970 (GRCm38)	K340R	probably benign	Het
Lrrc75a	A	G	11: 62,605,908 (GRCm38)	L276P	probably damaging	Het
Med25	A	G	7: 44,878,243 (GRCm38)	W730R	probably damaging	Het
Muc4	T	C	16: 32,751,322 (GRCm38)	V400A	probably benign	Het
Myl10	G	C	5: 136,697,971 (GRCm38)	V70L	probably benign	Het
Myt1	C	A	2: 181,815,106 (GRCm38)	H906Q	probably damaging	Het
Ncl	A	T	1: 86,350,842 (GRCm38)	F673I	probably damaging	Het
Nfe2l1	G	T	11: 96,822,183 (GRCm38)	T216N	probably benign	Het
Nos2	G	A	11: 78,944,855 (GRCm38)		probably null	Het
Nphp4	T	A	4: 152,554,717 (GRCm38)	I935N	probably benign	Het
Ntn1	G	A	11: 68,386,089 (GRCm38)	A11V	probably benign	Het
Olfr1257	T	C	2: 89,881,261 (GRCm38)	V145A	probably damaging	Het
Olfr1395	A	T	11: 49,148,994 (GRCm38)	M246L	probably benign	Het
Pcdha12	A	G	18: 37,021,608 (GRCm38)	Y460C	probably damaging	Het
Pcdha4	G	T	18: 36,953,058 (GRCm38)	R98L	probably benign	Het
Pitpnc1	A	G	11: 107,212,572 (GRCm38)	S234P	probably damaging	Het
Pmfbp1	A	T	8: 109,513,871 (GRCm38)	Y195F	probably damaging	Het
Prl6a1	T	C	13: 27,318,142 (GRCm38)	I164T	probably damaging	Het
Ptpn18	G	A	1: 34,472,192 (GRCm38)		probably null	Het
Rhbdl2	G	A	4: 123,829,642 (GRCm38)	A280T	possibly damaging	Het
Rsf1	CGGC	CGGCGGCGGGGGC	7: 97,579,932 (GRCm38)		probably benign	Het
Sema3a	T	G	5: 13,516,263 (GRCm38)	Y171*	probably null	Het
Set	A	G	2: 30,066,885 (GRCm38)	E22G	probably benign	Het
Sirpb1b	A	T	3: 15,542,997 (GRCm38)	D229E	probably benign	Het
Slc12a2	A	T	18: 57,941,013 (GRCm38)	I1096F	probably benign	Het
Slc30a5	T	C	13: 100,818,180 (GRCm38)	I159V	probably benign	Het
Slc35f3	CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC	CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC	8: 126,389,038 (GRCm38)		probably benign	Het
Slc6a20b	A	G	9: 123,604,948 (GRCm38)	I275T	probably benign	Het
Stradb	A	C	1: 58,988,518 (GRCm38)	D69A	possibly damaging	Het
Supt16	A	T	14: 52,178,051 (GRCm38)	V409E	probably damaging	Het
Tcea2	A	G	2: 181,686,664 (GRCm38)	N195S	probably damaging	Het
Thumpd3	T	C	6: 113,056,111 (GRCm38)	V270A	possibly damaging	Het
Urgcp	T	A	11: 5,718,116 (GRCm38)	H117L	probably benign	Het
Vps13c	T	A	9: 67,972,001 (GRCm38)	M3408K	probably damaging	Het
Wdfy4	A	C	14: 33,106,131 (GRCm38)	M1078R		Het
Wdr63	A	G	3: 146,097,145 (GRCm38)	V97A	probably damaging	Het
Ypel5	G	A	17: 72,846,444 (GRCm38)		probably null	Het

Other mutations in Kctd7

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01615:Kctd7	APN	5	130,148,135 (GRCm38)	missense	probably damaging	1.00
IGL02185:Kctd7	APN	5	130,152,458 (GRCm38)	missense	possibly damaging	0.73
R0027:Kctd7	UTSW	5	130,152,573 (GRCm38)	missense	probably damaging	0.99
R0932:Kctd7	UTSW	5	130,151,669 (GRCm38)	critical splice acceptor site	probably null
R1245:Kctd7	UTSW	5	130,148,217 (GRCm38)	missense	possibly damaging	0.93
R2136:Kctd7	UTSW	5	130,152,366 (GRCm38)	missense	probably damaging	0.99
R6009:Kctd7	UTSW	5	130,145,198 (GRCm38)	missense	probably damaging	0.99
R6889:Kctd7	UTSW	5	130,152,501 (GRCm38)	missense	probably benign	0.03
R9399:Kctd7	UTSW	5	130,148,192 (GRCm38)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TAGACCACTTGGAGCGGATTG -3'
(R):5'- CTCTTGCTTCTGAGGACAACTC -3'

Sequencing Primer
(F):5'- ATTGTGGAGATTGCCCGGC -3'
(R):5'- ACCACCACGTGATTTTGAACTCATAG -3'

Posted On

2019-10-07