Mutagenetix > Incidental Mutation

Incidental Mutation 'R5454:Kctd9'

432690

Institutional Source

Beutler Lab

Gene Symbol

Kctd9

Ensembl Gene

ENSMUSG00000034327

Gene Name

potassium channel tetramerisation domain containing 9

Synonyms

MMRRC Submission

043018-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5454 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

67953536-67979760 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 67977836 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Serine at position 382 (L382S)

Ref Sequence

ENSEMBL: ENSMUSP00000114489 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000078053] [ENSMUST00000111095] [ENSMUST00000150768] [ENSMUST00000152243] [ENSMUST00000156700] [ENSMUST00000223929]

AlphaFold

Q80UN1

Predicted Effect

unknown
Transcript: ENSMUST00000078053
AA Change: L332S

SMART Domains

Protein: ENSMUSP00000077200
Gene: ENSMUSG00000034327
AA Change: L332S

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: ENSMUST00000111095

SMART Domains

Protein: ENSMUSP00000106724
Gene: ENSMUSG00000015812

Domain	Start	End	E-Value	Type
signal peptide	1	21	N/A	INTRINSIC
Pfam:GnRH	22	31	9.2e-8	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000150768
AA Change: L382S

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000114489
Gene: ENSMUSG00000034327
AA Change: L382S

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

Predicted Effect

probably benign
Transcript: ENSMUST00000223929

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.2%
20x: 95.1%

Validation Efficiency

100% (60/60)

Allele List at MGI

Other mutations in this stock

Total: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930579C12Rik	T	C	9: 89,051,041 (GRCm39)		noncoding transcript	Het
Ankfy1	A	T	11: 72,637,757 (GRCm39)	H483L	probably benign	Het
Ankrd46	C	T	15: 36,479,447 (GRCm39)	G215R	probably damaging	Het
Apobec1	T	C	6: 122,558,327 (GRCm39)	I143V	probably benign	Het
Atp2b4	C	A	1: 133,657,610 (GRCm39)	V627F	probably damaging	Het
Ccdc80	T	A	16: 44,947,588 (GRCm39)	Y855*	probably null	Het
Cd209b	T	C	8: 3,975,396 (GRCm39)	E88G	probably damaging	Het
Ceacam14	T	G	7: 17,548,110 (GRCm39)	W67G	probably damaging	Het
Cope	T	C	8: 70,757,306 (GRCm39)	V50A	probably benign	Het
Dcaf13	C	A	15: 38,987,759 (GRCm39)	D168E	probably benign	Het
Dhcr7	T	G	7: 143,391,576 (GRCm39)	M55R	probably damaging	Het
Enpp7	A	T	11: 118,879,634 (GRCm39)	Y96F	probably benign	Het
Esco1	T	C	18: 10,584,327 (GRCm39)	D60G	probably benign	Het
Fgfr3	G	A	5: 33,880,642 (GRCm39)		probably benign	Het
Frzb	T	C	2: 80,248,259 (GRCm39)	D280G	probably damaging	Het
Gcat	A	G	15: 78,920,610 (GRCm39)	I317V	probably benign	Het
Gm13030	A	T	4: 138,600,820 (GRCm39)		probably benign	Het
Gmds	A	G	13: 32,312,024 (GRCm39)	L135P	probably damaging	Het
Htra2	G	A	6: 83,030,995 (GRCm39)	P138L	probably damaging	Het
Il5	A	G	11: 53,614,626 (GRCm39)	N89S	probably damaging	Het
Ints3	G	A	3: 90,315,834 (GRCm39)	T310M	possibly damaging	Het
Itih2	T	C	2: 10,102,804 (GRCm39)	I777V	probably null	Het
Loricrin	A	G	3: 91,988,789 (GRCm39)	S166P	unknown	Het
Mga	T	A	2: 119,733,810 (GRCm39)	N219K	probably damaging	Het
Mtmr4	A	T	11: 87,501,868 (GRCm39)	R641*	probably null	Het
Muc6	C	T	7: 141,235,078 (GRCm39)	A611T	possibly damaging	Het
Obox3-ps8	A	T	17: 36,763,903 (GRCm39)		noncoding transcript	Het
Or5p54	A	T	7: 107,554,096 (GRCm39)	M83L	probably benign	Het
Otud4	C	T	8: 80,377,671 (GRCm39)	L111F	possibly damaging	Het
Pcdhga12	T	A	18: 37,899,314 (GRCm39)	S49T	possibly damaging	Het
Pcdhgc3	A	G	18: 37,941,549 (GRCm39)	D650G	probably damaging	Het
Pcmt1	A	G	10: 7,516,509 (GRCm39)	V167A	probably damaging	Het
Pcnt	A	T	10: 76,225,381 (GRCm39)		probably null	Het
Pcx	G	T	19: 4,652,504 (GRCm39)	V164F	probably damaging	Het
Plekhg4	T	C	8: 106,102,745 (GRCm39)		probably null	Het
Pmch	A	G	10: 87,927,707 (GRCm39)	E136G	probably damaging	Het
Prkar1a	A	G	11: 109,550,886 (GRCm39)	D80G	probably benign	Het
Ryr3	T	C	2: 112,560,647 (GRCm39)		probably null	Het
Slc10a7	T	C	8: 79,413,253 (GRCm39)	S171P	possibly damaging	Het
Sox6	A	T	7: 115,301,008 (GRCm39)	M153K	possibly damaging	Het
Srgap2	T	C	1: 131,217,475 (GRCm39)	I946V	probably benign	Het
Strbp	T	C	2: 37,535,495 (GRCm39)	E71G	probably benign	Het
Synpo2l	C	A	14: 20,712,360 (GRCm39)	A87S	probably damaging	Het
Tnrc18	T	C	5: 142,757,446 (GRCm39)	D1025G	unknown	Het
Tnxb	A	G	17: 34,928,599 (GRCm39)	H2671R	possibly damaging	Het
Tor1b	GGACG	GG	2: 30,846,957 (GRCm39)		probably benign	Het
Umodl1	A	T	17: 31,205,439 (GRCm39)	D649V	possibly damaging	Het
Usp13	G	T	3: 32,959,585 (GRCm39)	A559S	probably damaging	Het
Vps45	G	A	3: 95,926,969 (GRCm39)	P526L	probably benign	Het
Zfp687	A	G	3: 94,916,457 (GRCm39)	V855A	probably damaging	Het
Zfp771	T	A	7: 126,853,448 (GRCm39)	C205S	probably damaging	Het

Other mutations in Kctd9

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02706:Kctd9	APN	14	67,962,130 (GRCm39)	critical splice donor site	probably null
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
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

Predicted Primers

PCR Primer
(F):5'- TGTCCTGTCATGGCCAGAAG -3'
(R):5'- GAACAGAGTGTCCTTCTGTTACAG -3'

Sequencing Primer
(F):5'- CCTGTCATGGCCAGAAGTCATTTTG -3'
(R):5'- TCTGTTACAGTCCCAATGAGG -3'

Posted On

2016-10-06