Mutagenetix > Incidental Mutation

Incidental Mutation 'R5821:Kctd8'

449931

Institutional Source

Beutler Lab

Gene Symbol

Kctd8

Ensembl Gene

ENSMUSG00000037653

Gene Name

potassium channel tetramerisation domain containing 8

Synonyms

A730087N02Rik

MMRRC Submission

043401-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.073) question?

Stock #

R5821 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

69266628-69499022 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 69267828 bp (GRCm39)

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]

AlphaFold

Q50H33

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: 30,686,458 (GRCm39)	V278D	possibly damaging	Het
Acacb	A	G	5: 114,322,167 (GRCm39)	D227G	possibly damaging	Het
Akap9	A	G	5: 4,096,064 (GRCm39)	E2313G	probably benign	Het
Cchcr1	A	T	17: 35,839,745 (GRCm39)	E564D	probably damaging	Het
Cers2	G	A	3: 95,229,008 (GRCm39)		probably benign	Het
Cfap161	A	G	7: 83,425,188 (GRCm39)	I301T	probably benign	Het
Ciita	A	T	16: 10,329,669 (GRCm39)	E648V	possibly damaging	Het
Cir1	C	T	2: 73,142,804 (GRCm39)	C10Y	probably damaging	Het
Clasp1	T	A	1: 118,518,214 (GRCm39)	F1087I	probably damaging	Het
Cped1	C	A	6: 22,138,681 (GRCm39)	F415L	probably benign	Het
Dnah7b	A	G	1: 46,181,292 (GRCm39)	T1060A	possibly damaging	Het
Epha5	G	T	5: 84,232,587 (GRCm39)	P809H	probably damaging	Het
Fuca1	T	A	4: 135,650,273 (GRCm39)		probably null	Het
Galnt2l	A	T	8: 123,627,372 (GRCm39)	*98R	probably null	Het
Gm26796	G	A	12: 80,805,564 (GRCm39)	R237C	unknown	Het
Idua	A	G	5: 108,827,600 (GRCm39)	Y138C	probably benign	Het
Ighd	A	T	12: 113,373,253 (GRCm39)	L240H	probably benign	Het
Ing2	C	G	8: 48,121,861 (GRCm39)	C229S	probably benign	Het
Kat8	G	A	7: 127,523,988 (GRCm39)	E343K	probably damaging	Het
Kif16b	T	C	2: 142,544,586 (GRCm39)	E1147G	probably damaging	Het
Kif18a	G	A	2: 109,120,190 (GRCm39)		probably benign	Het
Krt82	T	A	15: 101,456,820 (GRCm39)	R187*	probably null	Het
Lrrk2	T	C	15: 91,593,593 (GRCm39)		probably null	Het
M1ap	T	C	6: 82,945,083 (GRCm39)	Y126H	probably benign	Het
Mmel1	A	G	4: 154,970,044 (GRCm39)	N226D	possibly damaging	Het
Mtmr11	A	G	3: 96,075,185 (GRCm39)	D353G	possibly damaging	Het
Nfkbia	A	T	12: 55,538,005 (GRCm39)	H149Q	probably damaging	Het
Nr5a1	A	T	2: 38,598,511 (GRCm39)	F95L	probably damaging	Het
Nutm2	A	G	13: 50,623,891 (GRCm39)	Y196C	probably benign	Het
Oxtr	A	G	6: 112,466,457 (GRCm39)	I101T	probably damaging	Het
Pcsk2	T	A	2: 143,591,035 (GRCm39)		probably null	Het
Pde5a	T	C	3: 122,611,604 (GRCm39)	I514T	probably benign	Het
Pign	A	G	1: 105,516,788 (GRCm39)	W585R	possibly damaging	Het
Pomgnt1	A	G	4: 116,012,933 (GRCm39)	S407G	probably benign	Het
Ppfia3	G	A	7: 45,003,040 (GRCm39)	T372I	probably damaging	Het
Prrc2b	A	T	2: 32,102,144 (GRCm39)	E739V	probably damaging	Het
Ro60	A	G	1: 143,642,503 (GRCm39)	V209A	probably benign	Het
Scn7a	T	C	2: 66,574,047 (GRCm39)	E192G	probably damaging	Het
Slmap	T	C	14: 26,183,435 (GRCm39)	D316G	probably damaging	Het
Smim8	GGTTTAATGAAGAG	GG	4: 34,771,259 (GRCm39)		probably benign	Het
Smim8	TTTAATGAAGAGCT	TT	4: 34,771,261 (GRCm39)		probably benign	Het
Tgm2	T	A	2: 157,984,974 (GRCm39)	Y44F	possibly damaging	Het
Tmc8	C	A	11: 117,683,455 (GRCm39)	S670*	probably null	Het
Tmem145	A	G	7: 25,014,946 (GRCm39)	D523G	probably benign	Het
Vmn2r115	G	A	17: 23,566,937 (GRCm39)	G483E	probably damaging	Het

Other mutations in Kctd8

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01935:Kctd8	APN	5	69,497,707 (GRCm39)	missense	possibly damaging	0.90
IGL02212:Kctd8	APN	5	69,498,031 (GRCm39)	missense	probably benign	0.00
IGL03276:Kctd8	APN	5	69,497,929 (GRCm39)	missense	possibly damaging	0.71
R0206:Kctd8	UTSW	5	69,498,508 (GRCm39)	missense	probably damaging	1.00
R0349:Kctd8	UTSW	5	69,498,353 (GRCm39)	missense	probably damaging	1.00
R1775:Kctd8	UTSW	5	69,497,903 (GRCm39)	missense	probably damaging	1.00
R1782:Kctd8	UTSW	5	69,498,319 (GRCm39)	missense	possibly damaging	0.95
R1820:Kctd8	UTSW	5	69,497,684 (GRCm39)	missense	probably damaging	1.00
R2199:Kctd8	UTSW	5	69,498,588 (GRCm39)	missense	probably benign	0.02
R2237:Kctd8	UTSW	5	69,267,752 (GRCm39)	missense	probably damaging	0.98
R2513:Kctd8	UTSW	5	69,267,988 (GRCm39)	missense	probably benign
R3949:Kctd8	UTSW	5	69,498,617 (GRCm39)	missense	probably benign	0.20
R4418:Kctd8	UTSW	5	69,498,505 (GRCm39)	missense	probably damaging	1.00
R4722:Kctd8	UTSW	5	69,498,544 (GRCm39)	missense	possibly damaging	0.93
R4765:Kctd8	UTSW	5	69,498,191 (GRCm39)	missense	possibly damaging	0.71
R5009:Kctd8	UTSW	5	69,268,076 (GRCm39)	missense	probably benign	0.01
R5818:Kctd8	UTSW	5	69,454,054 (GRCm39)	missense	probably benign
R6857:Kctd8	UTSW	5	69,454,045 (GRCm39)	missense	probably benign
R8272:Kctd8	UTSW	5	69,267,803 (GRCm39)	missense	probably benign	0.02
R8419:Kctd8	UTSW	5	69,497,713 (GRCm39)	missense	probably damaging	1.00
RF001:Kctd8	UTSW	5	69,267,775 (GRCm39)	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