Mutagenetix > Incidental Mutation

Incidental Mutation 'R7128:Kctd9'

552483

Institutional Source

Beutler Lab

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 #

R7128 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

67953536-67979760 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 67975972 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 242 (S242P)

Ref Sequence

ENSEMBL: ENSMUSP00000120440 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000078053] [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: 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
AA Change: S242P

PolyPhen 2 Score 0.019 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000120440
Gene: ENSMUSG00000034327
AA Change: S242P

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: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.0%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgb	T	C	10: 10,347,985 (GRCm39)	D25G	probably benign	Het
Ak9	T	C	10: 41,300,713 (GRCm39)	V1641A	unknown	Het
Akirin2	T	C	4: 34,562,435 (GRCm39)	I118T	probably benign	Het
Aldh1l1	G	T	6: 90,540,361 (GRCm39)	Q215H	probably benign	Het
Arhgef26	T	C	3: 62,326,971 (GRCm39)	F495L	possibly damaging	Het
Atg4a-ps	T	A	3: 103,553,063 (GRCm39)	R93*	probably null	Het
Brd10	T	C	19: 29,693,881 (GRCm39)	T1871A	possibly damaging	Het
Catsper3	A	G	13: 55,946,662 (GRCm39)	I120V	probably benign	Het
Cavin2	A	G	1: 51,328,579 (GRCm39)	Q12R	possibly damaging	Het
Cenpf	A	T	1: 189,417,188 (GRCm39)	F39Y	probably damaging	Het
Chfr	T	C	5: 110,291,502 (GRCm39)	Y107H	probably benign	Het
Cmtm1	CGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGT	CGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGT	8: 105,036,102 (GRCm39)		probably benign	Het
Defb4	T	A	8: 19,251,220 (GRCm39)	I29K	possibly damaging	Het
Dnah7c	A	G	1: 46,566,645 (GRCm39)	T619A	probably benign	Het
Duxf1	T	C	10: 58,059,479 (GRCm39)	Q425R	unknown	Het
Emc3	A	G	6: 113,494,881 (GRCm39)	L179P	probably damaging	Het
Eno3	G	C	11: 70,549,430 (GRCm39)	V84L	possibly damaging	Het
Fam110a	C	T	2: 151,812,642 (GRCm39)	V43M	probably damaging	Het
Fbxo30	T	A	10: 11,165,860 (GRCm39)	L194*	probably null	Het
Galnt14	T	C	17: 73,852,096 (GRCm39)	T108A	probably benign	Het
Glipr2	T	C	4: 43,968,601 (GRCm39)	I51T	probably benign	Het
Gm1527	C	T	3: 28,969,460 (GRCm39)	S270F	possibly damaging	Het
Gm3336	A	G	8: 71,171,203 (GRCm39)	M1V	probably null	Het
Gm4744	T	C	6: 40,927,310 (GRCm39)	D15G		Het
Gm4924	G	A	10: 82,214,533 (GRCm39)	C777Y	unknown	Het
Gm5901	G	A	7: 105,027,408 (GRCm39)	G306S	probably damaging	Het
Gon4l	T	A	3: 88,802,999 (GRCm39)	N1203K	possibly damaging	Het
Gpr161	A	T	1: 165,138,026 (GRCm39)	Y204F	possibly damaging	Het
Igsf10	T	C	3: 59,236,326 (GRCm39)	E1285G	probably benign	Het
Irx6	T	C	8: 93,403,994 (GRCm39)	L187P	probably damaging	Het
Itgb1bp1	A	G	12: 21,322,089 (GRCm39)	Y117H	probably benign	Het
Itln1	C	A	1: 171,358,143 (GRCm39)	D202Y	possibly damaging	Het
Lrrk2	A	G	15: 91,686,088 (GRCm39)	H2143R	probably benign	Het
Lynx1	G	A	15: 74,623,398 (GRCm39)	R50*	probably null	Het
Lypd11	C	T	7: 24,425,424 (GRCm39)		probably null	Het
Map10	A	G	8: 126,398,592 (GRCm39)	I662V	probably benign	Het
Mlxipl	T	C	5: 135,162,705 (GRCm39)	L691P	probably damaging	Het
Muc16	A	G	9: 18,554,300 (GRCm39)	S3998P	unknown	Het
Nalcn	A	T	14: 123,831,914 (GRCm39)	V120E	probably damaging	Het
Nfat5	T	C	8: 108,085,323 (GRCm39)	S539P	probably benign	Het
Olfml3	T	C	3: 103,644,484 (GRCm39)	M62V	probably benign	Het
Orm3	T	C	4: 63,276,062 (GRCm39)	V158A	probably benign	Het
Pakap	T	C	4: 57,855,816 (GRCm39)	S382P	probably benign	Het
Pced1b	A	T	15: 97,282,479 (GRCm39)	K173*	probably null	Het
Pdzd7	T	C	19: 45,016,388 (GRCm39)	D911G	probably damaging	Het
Pkn3	A	G	2: 29,973,327 (GRCm39)	D383G	probably damaging	Het
Pm20d1	A	G	1: 131,725,292 (GRCm39)	E46G	probably benign	Het
Pyroxd2	A	T	19: 42,719,842 (GRCm39)	S455T	probably benign	Het
Rmnd5b	T	A	11: 51,515,364 (GRCm39)	I301F	possibly damaging	Het
Rnf225	A	G	7: 12,661,911 (GRCm39)	N30S	probably benign	Het
Shisal2a	G	T	4: 108,225,100 (GRCm39)	T154K	probably benign	Het
Slfn3	T	A	11: 83,105,721 (GRCm39)	C573S	probably benign	Het
Smc6	A	G	12: 11,351,632 (GRCm39)	E887G	probably damaging	Het
Sp140	A	T	1: 85,547,846 (GRCm39)	D191V	possibly damaging	Het
Srf	C	T	17: 46,866,372 (GRCm39)	S128N	possibly damaging	Het
Sult6b1	T	C	17: 79,202,070 (GRCm39)	D144G	probably damaging	Het
Syne1	G	A	10: 5,193,180 (GRCm39)	A3956V	probably damaging	Het
Syt10	A	T	15: 89,698,314 (GRCm39)	D343E	probably damaging	Het
Tgtp2	G	A	11: 48,950,135 (GRCm39)	R146C	possibly damaging	Het
Tmcc3	A	T	10: 94,266,496 (GRCm39)		probably benign	Het
Tnfrsf1a	A	T	6: 125,338,499 (GRCm39)	T337S	probably benign	Het
Tns1	A	T	1: 74,034,463 (GRCm39)	I144N		Het
Trim11	A	G	11: 58,869,103 (GRCm39)	E13G	probably damaging	Het
Trpm6	A	T	19: 18,789,137 (GRCm39)	H569L	possibly damaging	Het
Ttbk2	T	A	2: 120,576,569 (GRCm39)	I803L	probably benign	Het
Vmn1r21	G	T	6: 57,820,936 (GRCm39)	N169K	probably damaging	Het
Vmn2r60	C	T	7: 41,844,536 (GRCm39)	T633I	probably damaging	Het
Wt1	T	C	2: 104,957,670 (GRCm39)	Y177H	probably benign	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
R5454:Kctd9	UTSW	14	67,977,836 (GRCm39)	missense	probably damaging	1.00
R6642:Kctd9	UTSW	14	67,962,122 (GRCm39)	nonsense	probably null
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'- AAGTTGCGTGGTCTCATCTC -3'
(R):5'- TCATTCCTGGAGGGGAAGAG -3'

Sequencing Primer
(F):5'- CCTCTGCATGTCAGCTCATG -3'
(R):5'- TCTCGACTTGGCTGGGATCAC -3'

Posted On

2019-05-15