Mutagenetix > Incidental Mutation

Incidental Mutation 'R2199:Kctd8'

238551

Institutional Source

Beutler Lab

Gene Symbol

Kctd8

Ensembl Gene

ENSMUSG00000037653

Gene Name

potassium channel tetramerisation domain containing 8

Synonyms

A730087N02Rik

MMRRC Submission

040201-MU

Accession Numbers

Essential gene?

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

Stock #

R2199 (G1)

Quality Score

143

Status

Not validated

Chromosome

Chromosomal Location

69266628-69499022 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 69498588 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Isoleucine at position 19 (M19I)

Ref Sequence

ENSEMBL: ENSMUSP00000084484 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000054095] [ENSMUST00000087231]

AlphaFold

Q50H33

Predicted Effect

probably benign
Transcript: ENSMUST00000054095
AA Change: M19I

PolyPhen 2 Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000055326
Gene: ENSMUSG00000037653
AA Change: M19I

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

Predicted Effect

probably benign
Transcript: ENSMUST00000087231
AA Change: M19I

PolyPhen 2 Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000084484
Gene: ENSMUSG00000037653
AA Change: M19I

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000175388

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.5%
20x: 95.6%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca17	T	C	17: 24,554,598 (GRCm39)	I119V	probably benign	Het
Arfgap2	T	A	2: 91,096,037 (GRCm39)		probably null	Het
Ccm2	T	C	11: 6,540,790 (GRCm39)	V216A	probably damaging	Het
Ctdspl2	T	C	2: 121,817,510 (GRCm39)		probably null	Het
Dmxl2	T	C	9: 54,283,527 (GRCm39)	T2769A	probably benign	Het
Dnah3	C	T	7: 119,550,792 (GRCm39)	V3165M	possibly damaging	Het
Dnajc1	A	C	2: 18,313,710 (GRCm39)	F137C	probably damaging	Het
Gli2	A	T	1: 118,765,378 (GRCm39)	D924E	possibly damaging	Het
Gnrhr	T	C	5: 86,345,677 (GRCm39)	N3S	probably benign	Het
Grhl1	G	T	12: 24,662,169 (GRCm39)	R536L	probably damaging	Het
Hormad1	T	C	3: 95,475,033 (GRCm39)		probably null	Het
Il20	T	A	1: 130,838,476 (GRCm39)	I74L	probably benign	Het
Ints11	A	G	4: 155,959,738 (GRCm39)	K115R	probably benign	Het
Irx4	A	T	13: 73,413,720 (GRCm39)	E63D	probably benign	Het
Itch	A	C	2: 155,044,141 (GRCm39)	Q482P	probably benign	Het
Klhl31	T	C	9: 77,557,383 (GRCm39)	L33P	probably damaging	Het
Lrp1	A	T	10: 127,382,709 (GRCm39)	C3691S	probably damaging	Het
Lrrc39	A	G	3: 116,364,610 (GRCm39)	D167G	probably damaging	Het
Lrrd1	A	T	5: 3,916,478 (GRCm39)	I832L	possibly damaging	Het
Lrriq1	A	G	10: 102,904,774 (GRCm39)	V1620A	probably damaging	Het
Ltbr	T	C	6: 125,289,024 (GRCm39)	K213E	probably benign	Het
Megf8	T	A	7: 25,039,039 (GRCm39)	D883E	possibly damaging	Het
Nherf2	T	C	17: 24,859,570 (GRCm39)	E174G	probably null	Het
Nmt1	T	A	11: 102,954,682 (GRCm39)	S405T	probably damaging	Het
Nsd3	G	T	8: 26,156,073 (GRCm39)	V547F	probably damaging	Het
Or4c110	A	G	2: 88,831,894 (GRCm39)	V246A	probably damaging	Het
Or7g16	C	A	9: 18,727,219 (GRCm39)	V124F	probably damaging	Het
Otud7a	A	G	7: 63,407,404 (GRCm39)	K569R	possibly damaging	Het
Otud7b	A	G	3: 96,063,089 (GRCm39)	Y776C	probably damaging	Het
Pcdh15	T	C	10: 74,006,341 (GRCm39)	I73T	probably damaging	Het
Rnf213	A	T	11: 119,350,835 (GRCm39)	H3890L	probably benign	Het
Sall3	T	C	18: 81,015,085 (GRCm39)	T948A	probably benign	Het
Slc44a3	T	C	3: 121,307,393 (GRCm39)	I198V	probably benign	Het
Smg7	C	A	1: 152,730,079 (GRCm39)	D405Y	probably damaging	Het
Synpo2l	A	G	14: 20,711,987 (GRCm39)	L211S	probably benign	Het
Thsd7b	A	G	1: 130,145,895 (GRCm39)	Y1601C	probably benign	Het
Traf4	T	C	11: 78,050,806 (GRCm39)	Y450C	probably damaging	Het
Trpv1	A	G	11: 73,131,077 (GRCm39)	K239E	probably damaging	Het
Ttn	C	T	2: 76,585,150 (GRCm39)	G20302S	probably damaging	Het
Ube2o	A	G	11: 116,435,571 (GRCm39)	S406P	probably benign	Het
Xrn2	C	T	2: 146,866,670 (GRCm39)	A80V	probably damaging	Het
Zfp616	C	T	11: 73,975,456 (GRCm39)	T575I	possibly 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
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
R5821:Kctd8	UTSW	5	69,267,828 (GRCm39)	missense	probably benign	0.20
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'- AGAACATGCTGGCCAGAGTG -3'
(R):5'- GAGGTCCATTCCTGAGAGTCTC -3'

Sequencing Primer
(F):5'- ATGCTGGCCAGAGTGCTGTC -3'
(R):5'- TGAGAGTCTCTCCCCGATG -3'

Posted On

2014-10-02