Mutagenetix > Incidental Mutations

Incidental Mutation 'R5821:Kctd8'

449931

Institutional Source

Beutler Lab

Gene Symbol

Kctd8

Ensembl Gene

ENSMUSG00000037653

Gene Name

potassium channel tetramerisation domain containing 8

Synonyms

MMRRC Submission

043401-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.093) question?

Stock #

R5821 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

69109285-69341679 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 69110485 bp

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 427 (N427K)

Ref Sequence

ENSEMBL: ENSMUSP00000055326 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000054095]

Predicted Effect

probably benign
Transcript: ENSMUST00000054095
AA Change: N427K

PolyPhen 2 Score 0.202 (Sensitivity: 0.92; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000055326
Gene: ENSMUSG00000037653
AA Change: N427K

Domain	Start	End	E-Value	Type
low complexity region	21	41	N/A	INTRINSIC
BTB	44	154	1.46e-8	SMART
low complexity region	172	204	N/A	INTRINSIC

Meta Mutation Damage Score

0.0850

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.6%
20x: 96.1%

Validation Efficiency

100% (55/55)

Allele List at MGI

Other mutations in this stock

Total: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700001O22Rik	A	T	2: 30,796,446	V278D	possibly damaging	Het
Acacb	A	G	5: 114,184,106	D227G	possibly damaging	Het
Akap9	A	G	5: 4,046,064	E2313G	probably benign	Het
Cchcr1	A	T	17: 35,528,848	E564D	probably damaging	Het
Cers2	G	A	3: 95,321,697		probably benign	Het
Cfap161	A	G	7: 83,775,980	I301T	probably benign	Het
Ciita	A	T	16: 10,511,805	E648V	possibly damaging	Het
Cir1	C	T	2: 73,312,460	C10Y	probably damaging	Het
Clasp1	T	A	1: 118,590,484	F1087I	probably damaging	Het
Cped1	C	A	6: 22,138,682	F415L	probably benign	Het
Dnah7b	A	G	1: 46,142,132	T1060A	possibly damaging	Het
Epha5	G	T	5: 84,084,728	P809H	probably damaging	Het
Fuca1	T	A	4: 135,922,962		probably null	Het
Gm20388	A	T	8: 122,900,633	*98R	probably null	Het
Gm26796	G	A	12: 80,758,790	R237C	unknown	Het
Idua	A	G	5: 108,679,734	Y138C	probably benign	Het
Ighd	A	T	12: 113,409,633	L240H	probably benign	Het
Ing2	C	G	8: 47,668,826	C229S	probably benign	Het
Kat8	G	A	7: 127,924,816	E343K	probably damaging	Het
Kif16b	T	C	2: 142,702,666	E1147G	probably damaging	Het
Kif18a	G	A	2: 109,289,845		probably benign	Het
Krt82	T	A	15: 101,548,385	R187*	probably null	Het
Lrrk2	T	C	15: 91,709,390		probably null	Het
M1ap	T	C	6: 82,968,102	Y126H	probably benign	Het
Mmel1	A	G	4: 154,885,587	N226D	possibly damaging	Het
Mtmr11	A	G	3: 96,167,869	D353G	possibly damaging	Het
Nfkbia	A	T	12: 55,491,220	H149Q	probably damaging	Het
Nr5a1	A	T	2: 38,708,499	F95L	probably damaging	Het
Nutm2	A	G	13: 50,469,855	Y196C	probably benign	Het
Oxtr	A	G	6: 112,489,496	I101T	probably damaging	Het
Pcsk2	T	A	2: 143,749,115		probably null	Het
Pde5a	T	C	3: 122,817,955	I514T	probably benign	Het
Pign	A	G	1: 105,589,063	W585R	possibly damaging	Het
Pomgnt1	A	G	4: 116,155,736	S407G	probably benign	Het
Ppfia3	G	A	7: 45,353,616	T372I	probably damaging	Het
Prrc2b	A	T	2: 32,212,132	E739V	probably damaging	Het
Scn7a	T	C	2: 66,743,703	E192G	probably damaging	Het
Slmap	T	C	14: 26,462,280	D316G	probably damaging	Het
Smim8	GGTTTAATGAAGAG	GG	4: 34,771,259		probably benign	Het
Smim8	TTTAATGAAGAGCT	TT	4: 34,771,261		probably benign	Het
Tgm2	T	A	2: 158,143,054	Y44F	possibly damaging	Het
Tmc8	C	A	11: 117,792,629	S670*	probably null	Het
Tmem145	A	G	7: 25,315,521	D523G	probably benign	Het
Trove2	A	G	1: 143,766,765	V209A	probably benign	Het
Vmn2r115	G	A	17: 23,347,963	G483E	probably damaging	Het

Other mutations in Kctd8

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01935:Kctd8	APN	5	69340364	missense	possibly damaging	0.90
IGL02212:Kctd8	APN	5	69340688	missense	probably benign	0.00
IGL03276:Kctd8	APN	5	69340586	missense	possibly damaging	0.71
R0206:Kctd8	UTSW	5	69341165	missense	probably damaging	1.00
R0349:Kctd8	UTSW	5	69341010	missense	probably damaging	1.00
R1775:Kctd8	UTSW	5	69340560	missense	probably damaging	1.00
R1782:Kctd8	UTSW	5	69340976	missense	possibly damaging	0.95
R1820:Kctd8	UTSW	5	69340341	missense	probably damaging	1.00
R2199:Kctd8	UTSW	5	69341245	missense	probably benign	0.02
R2237:Kctd8	UTSW	5	69110409	missense	probably damaging	0.98
R2513:Kctd8	UTSW	5	69110645	missense	probably benign
R3949:Kctd8	UTSW	5	69341274	missense	probably benign	0.20
R4418:Kctd8	UTSW	5	69341162	missense	probably damaging	1.00
R4722:Kctd8	UTSW	5	69341201	missense	possibly damaging	0.93
R4765:Kctd8	UTSW	5	69340848	missense	possibly damaging	0.71
R5009:Kctd8	UTSW	5	69110733	missense	probably benign	0.01
R5818:Kctd8	UTSW	5	69296711	missense	probably benign
R6857:Kctd8	UTSW	5	69296702	missense	probably benign
RF001:Kctd8	UTSW	5	69110432	missense	possibly damaging	0.64

Predicted Primers

PCR Primer
(F):5'- GTCATCATGACACTCCCAGAG -3'
(R):5'- GCAATGAGCTCTCCACATCC -3'

Sequencing Primer
(F):5'- CTCCCAGAGCATCATCATTATTAC -3'
(R):5'- TGTGACAGCCACTCAGAGG -3'

Posted On

2016-12-20