Mutagenetix > Incidental Mutation

Incidental Mutation 'R1069:Kctd9'

86138

Institutional Source

Beutler Lab

Gene Symbol

Kctd9

Ensembl Gene

ENSMUSG00000034327

Gene Name

potassium channel tetramerisation domain containing 9

Synonyms

MMRRC Submission

039155-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1069 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

67715937-67742310 bp(+) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

C to T at 67729420 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000115002 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000078053] [ENSMUST00000125212] [ENSMUST00000145542] [ENSMUST00000150768] [ENSMUST00000152243] [ENSMUST00000156700]

AlphaFold

Q80UN1

Predicted Effect

probably benign
Transcript: ENSMUST00000078053

SMART Domains

Protein: ENSMUSP00000077200
Gene: ENSMUSG00000034327

Domain	Start	End	E-Value	Type
Pfam:DUF3354	1	65	3.5e-22	PFAM
BTB	89	192	1.76e-16	SMART
Pfam:Pentapeptide	253	292	1e-14	PFAM
Pfam:Pentapeptide_4	258	334	2.7e-15	PFAM
Pfam:Pentapeptide	288	327	6.8e-17	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000125212

Predicted Effect

probably benign
Transcript: ENSMUST00000145542

Predicted Effect

probably benign
Transcript: ENSMUST00000150768

SMART Domains

Protein: ENSMUSP00000114489
Gene: ENSMUSG00000034327

Domain	Start	End	E-Value	Type
Pfam:KHA	2	64	1.4e-21	PFAM
BTB	89	192	1.76e-16	SMART
Pfam:Pentapeptide	219	255	9.3e-8	PFAM
Pfam:Pentapeptide	248	280	9.3e-11	PFAM
Pfam:Pentapeptide	258	297	3e-10	PFAM
Pfam:Pentapeptide	303	342	3.2e-13	PFAM
Pfam:Pentapeptide_4	308	384	3.3e-13	PFAM
Pfam:Pentapeptide	338	377	2.1e-15	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000152243

SMART Domains

Protein: ENSMUSP00000120440
Gene: ENSMUSG00000034327

Domain	Start	End	E-Value	Type
Pfam:BTB_2	1	70	1.3e-13	PFAM
Pfam:BTB	1	78	6.2e-7	PFAM
Pfam:Pentapeptide	105	137	4.3e-8	PFAM
Pfam:Pentapeptide	134	166	5.5e-11	PFAM
Pfam:Pentapeptide	144	183	1.5e-10	PFAM
Pfam:Pentapeptide_4	165	239	5.3e-9	PFAM
Pfam:Pentapeptide	189	228	1.7e-13	PFAM
Pfam:Pentapeptide	209	237	9.3e-8	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000156700

SMART Domains

Protein: ENSMUSP00000115002
Gene: ENSMUSG00000034327

Domain	Start	End	E-Value	Type
Pfam:DUF3354	1	65	2.5e-23	PFAM
SCOP:d3kvt__	89	107	9e-4	SMART

Coding Region Coverage

1x: 99.4%
3x: 98.8%
10x: 97.5%
20x: 95.4%

Validation Efficiency

100% (33/33)

Allele List at MGI

Other mutations in this stock

Total: 32 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2610203C20Rik	G	A	9: 41,590,298	R151H	possibly damaging	Het
4921524L21Rik	A	G	18: 6,624,037	N106S	probably benign	Het
Akr1c21	C	A	13: 4,575,334		probably benign	Het
Alpk2	G	A	18: 65,305,014	R1570C	probably benign	Het
Atp8b3	G	A	10: 80,531,018	R249C	probably damaging	Het
Cacnb4	C	A	2: 52,455,611	R252I	probably damaging	Het
Cars	T	C	7: 143,570,107	T480A	probably benign	Het
Ccnf	A	T	17: 24,223,997	C745*	probably null	Het
Ccr8	A	G	9: 120,094,217	I133V	probably benign	Het
Cndp1	G	A	18: 84,634,652		probably benign	Het
Dgkq	T	C	5: 108,656,037		probably benign	Het
Ecd	A	G	14: 20,333,436	C312R	probably damaging	Het
Epp13	A	T	7: 6,255,922		probably null	Het
Gstm1	T	C	3: 108,012,748	S226G	probably damaging	Het
Gtf3c3	C	T	1: 54,417,778	A488T	probably damaging	Het
Hacd4	T	A	4: 88,437,502	I49L	probably damaging	Het
Hid1	T	C	11: 115,356,765	N269S	probably damaging	Het
Ifitm3	A	T	7: 141,009,900		probably benign	Het
Kif20b	T	C	19: 34,950,851	L1131P	probably damaging	Het
Kif2c	T	C	4: 117,178,153	T33A	probably damaging	Het
Lipc	T	C	9: 70,823,537	T38A	probably benign	Het
Lrguk	A	C	6: 34,048,883	I205L	possibly damaging	Het
Ncapg	T	A	5: 45,675,930		probably benign	Het
Ptprd	A	G	4: 75,998,487		probably benign	Het
Ptprd	T	A	4: 76,100,633	K635*	probably null	Het
Sap130	G	A	18: 31,711,629	V898I	probably damaging	Het
Sned1	G	A	1: 93,281,654	V830M	possibly damaging	Het
Svep1	C	T	4: 58,070,239	G2516R	probably damaging	Het
Tas2r131	C	T	6: 132,957,825	R7K	probably benign	Het
Tfpi	A	G	2: 84,453,792		probably benign	Het
Trim80	T	C	11: 115,448,083	C580R	probably damaging	Het
Ttn	T	A	2: 76,969,929	I312F	unknown	Het

Other mutations in Kctd9

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02706:Kctd9	APN	14	67724681	critical splice donor site	probably null
IGL03034:Kctd9	APN	14	67734279	missense	probably benign	0.36
domain	UTSW	14	67724673	nonsense	probably null
model	UTSW	14	67729692	missense	possibly damaging	0.95
motif	UTSW	14	67729356	missense	probably damaging	1.00
Prototype	UTSW	14	67740387	missense	probably damaging	1.00
R0686:Kctd9	UTSW	14	67728736	missense	probably damaging	1.00
R3737:Kctd9	UTSW	14	67734288	missense	possibly damaging	0.92
R3738:Kctd9	UTSW	14	67734288	missense	possibly damaging	0.92
R4785:Kctd9	UTSW	14	67734164	missense	probably damaging	1.00
R4939:Kctd9	UTSW	14	67729686	missense	probably damaging	1.00
R4989:Kctd9	UTSW	14	67729356	missense	probably damaging	1.00
R5133:Kctd9	UTSW	14	67729356	missense	probably damaging	1.00
R5138:Kctd9	UTSW	14	67728748	critical splice donor site	probably null
R5232:Kctd9	UTSW	14	67724661	missense	probably damaging	1.00
R5454:Kctd9	UTSW	14	67740387	missense	probably damaging	1.00
R6642:Kctd9	UTSW	14	67724673	nonsense	probably null
R7128:Kctd9	UTSW	14	67738523	missense	probably benign	0.02
R7863:Kctd9	UTSW	14	67729717	missense	possibly damaging	0.84
R8068:Kctd9	UTSW	14	67724662	missense	unknown
R8166:Kctd9	UTSW	14	67729692	missense	possibly damaging	0.95
R8887:Kctd9	UTSW	14	67724567	missense	unknown

Predicted Primers

PCR Primer
(F):5'- GAAGGGATTTTGGCAACTTACTGCAC -3'
(R):5'- GCTTATTTCCCCAGACACCTGTGATAC -3'

Sequencing Primer
(F):5'- GCATCACCCTACCAGGTTG -3'
(R):5'- ACCATTTTAATAAAGAAAATCCCCCC -3'

Posted On

2013-11-18