Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02706:Kctd9'

304368

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Kctd9

Ensembl Gene

ENSMUSG00000034327

Gene Name

potassium channel tetramerisation domain containing 9

Synonyms

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02706

Quality Score

Status

Chromosome

Chromosomal Location

67953536-67979760 bp(+) (GRCm39)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

T to C at 67962130 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000120440 (fasta)

Gene Model

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

AlphaFold

Q80UN1

Predicted Effect

probably null
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 null
Transcript: ENSMUST00000125212

Predicted Effect

probably null
Transcript: ENSMUST00000145542

Predicted Effect

probably null
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 null
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

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca17	T	C	17: 24,517,966 (GRCm39)	E781G	probably benign	Het
Abcc8	C	T	7: 45,816,345 (GRCm39)	R265Q	probably benign	Het
Agtr1b	A	T	3: 20,370,027 (GRCm39)	I193N	probably benign	Het
Atp6v1e2	A	G	17: 87,252,362 (GRCm39)	I12T	probably damaging	Het
Cacna1g	T	C	11: 94,347,818 (GRCm39)	T757A	probably damaging	Het
Cldn15	A	G	5: 137,003,685 (GRCm39)	K200R	probably benign	Het
Dip2b	G	T	15: 100,113,192 (GRCm39)	V1302F	probably damaging	Het
Dnajb6	T	A	5: 29,957,421 (GRCm39)	Y68N	probably damaging	Het
Dok1	T	A	6: 83,009,315 (GRCm39)	E179V	probably damaging	Het
Epha4	T	C	1: 77,403,482 (GRCm39)	T342A	probably damaging	Het
Etf1	A	T	18: 35,064,690 (GRCm39)	S6R	possibly damaging	Het
Fryl	T	C	5: 73,250,506 (GRCm39)	I987V	probably benign	Het
Gba2	C	T	4: 43,567,257 (GRCm39)	G897S	probably benign	Het
Habp2	G	T	19: 56,298,570 (GRCm39)		probably null	Het
Hapln1	G	T	13: 89,753,578 (GRCm39)	S248I	possibly damaging	Het
Hydin	A	G	8: 111,137,198 (GRCm39)	D667G	probably damaging	Het
Kcnma1	T	A	14: 23,359,222 (GRCm39)	H1074L	probably damaging	Het
L3mbtl4	A	G	17: 68,793,914 (GRCm39)	D306G	probably damaging	Het
Lgalsl	T	C	11: 20,780,090 (GRCm39)	R49G	probably damaging	Het
Lpo	C	T	11: 87,708,599 (GRCm39)	S133N	probably benign	Het
Lrp8	A	T	4: 107,660,516 (GRCm39)	R59*	probably null	Het
Mctp1	T	C	13: 76,971,188 (GRCm39)	F629S	probably damaging	Het
Med1	A	G	11: 98,047,533 (GRCm39)		probably benign	Het
Nbea	T	C	3: 55,944,699 (GRCm39)	H555R	probably damaging	Het
Nedd1	T	C	10: 92,522,147 (GRCm39)	H630R	possibly damaging	Het
Nr3c2	A	T	8: 77,635,045 (GRCm39)		probably null	Het
Nubp2	A	T	17: 25,102,171 (GRCm39)	V267E	probably benign	Het
Oacyl	A	T	18: 65,882,792 (GRCm39)	Y629F	probably damaging	Het
Or1n1b	A	G	2: 36,780,731 (GRCm39)	I43T	probably damaging	Het
Or1x2	T	A	11: 50,918,091 (GRCm39)	H87Q	probably damaging	Het
Or5b119	A	T	19: 13,457,462 (GRCm39)	Y33*	probably null	Het
Pknox2	T	C	9: 36,847,675 (GRCm39)	H114R	probably benign	Het
Ppp2r1b	A	G	9: 50,790,134 (GRCm39)	D564G	possibly damaging	Het
Ppp3ca	T	G	3: 136,611,079 (GRCm39)	N367K	possibly damaging	Het
Ptprn2	T	C	12: 116,852,518 (GRCm39)	V525A	probably damaging	Het
Reps1	T	G	10: 17,998,763 (GRCm39)		probably benign	Het
Rgs11	G	A	17: 26,426,605 (GRCm39)	V279I	probably benign	Het
Sipa1l1	A	G	12: 82,444,207 (GRCm39)	I973V	possibly damaging	Het
Ssh2	T	A	11: 77,344,232 (GRCm39)	V739D	possibly damaging	Het
Tbc1d24	A	G	17: 24,404,395 (GRCm39)	F250L	probably benign	Het
Ube3a	T	A	7: 58,921,881 (GRCm39)	H84Q	possibly damaging	Het
Usp34	T	C	11: 23,338,659 (GRCm39)		probably benign	Het
Zdhhc8	G	T	16: 18,042,758 (GRCm39)	L481I	probably damaging	Het
Zfp574	A	G	7: 24,780,790 (GRCm39)	H604R	probably damaging	Het
Zfp945	A	T	17: 23,076,256 (GRCm39)	M63K	probably damaging	Het

Other mutations in Kctd9

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL03034:Kctd9	APN	14	67,971,728 (GRCm39)	missense	probably benign	0.36
domain	UTSW	14	67,962,122 (GRCm39)	nonsense	probably null
model	UTSW	14	67,967,141 (GRCm39)	missense	possibly damaging	0.95
motif	UTSW	14	67,966,805 (GRCm39)	missense	probably damaging	1.00
Prototype	UTSW	14	67,977,836 (GRCm39)	missense	probably damaging	1.00
R0686:Kctd9	UTSW	14	67,966,185 (GRCm39)	missense	probably damaging	1.00
R1069:Kctd9	UTSW	14	67,966,869 (GRCm39)	splice site	probably benign
R3737:Kctd9	UTSW	14	67,971,737 (GRCm39)	missense	possibly damaging	0.92
R3738:Kctd9	UTSW	14	67,971,737 (GRCm39)	missense	possibly damaging	0.92
R4785:Kctd9	UTSW	14	67,971,613 (GRCm39)	missense	probably damaging	1.00
R4939:Kctd9	UTSW	14	67,967,135 (GRCm39)	missense	probably damaging	1.00
R4989:Kctd9	UTSW	14	67,966,805 (GRCm39)	missense	probably damaging	1.00
R5133:Kctd9	UTSW	14	67,966,805 (GRCm39)	missense	probably damaging	1.00
R5138:Kctd9	UTSW	14	67,966,197 (GRCm39)	critical splice donor site	probably null
R5232:Kctd9	UTSW	14	67,962,110 (GRCm39)	missense	probably damaging	1.00
R5454:Kctd9	UTSW	14	67,977,836 (GRCm39)	missense	probably damaging	1.00
R6642:Kctd9	UTSW	14	67,962,122 (GRCm39)	nonsense	probably null
R7128:Kctd9	UTSW	14	67,975,972 (GRCm39)	missense	probably benign	0.02
R7863:Kctd9	UTSW	14	67,967,166 (GRCm39)	missense	possibly damaging	0.84
R8068:Kctd9	UTSW	14	67,962,111 (GRCm39)	missense	unknown
R8166:Kctd9	UTSW	14	67,967,141 (GRCm39)	missense	possibly damaging	0.95
R8887:Kctd9	UTSW	14	67,962,016 (GRCm39)	missense	unknown

Posted On

2015-04-16