Mutagenetix > Incidental Mutation

Incidental Mutation 'R5747:Kctd18'

445803

Institutional Source

Beutler Lab

Gene Symbol

Kctd18

Ensembl Gene

ENSMUSG00000054770

Gene Name

potassium channel tetramerisation domain containing 18

Synonyms

4932411A20Rik

MMRRC Submission

043354-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.067) question?

Stock #

R5747 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

57994260-58009298 bp(-) (GRCm39)

Type of Mutation

intron

DNA Base Change (assembly)

A to T at 58001183 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000130952 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000114410] [ENSMUST00000159826] [ENSMUST00000161608] [ENSMUST00000164963] [ENSMUST00000163061]

AlphaFold

E0CZ26

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000068000

Predicted Effect

probably benign
Transcript: ENSMUST00000114410

SMART Domains

Protein: ENSMUSP00000110052
Gene: ENSMUSG00000054770

Domain	Start	End	E-Value	Type
BTB	23	123	1.01e-2	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000159826

SMART Domains

Protein: ENSMUSP00000125245
Gene: ENSMUSG00000054770

Domain	Start	End	E-Value	Type
SCOP:d1t1da_	23	65	2e-11	SMART
Blast:BTB	23	107	2e-24	BLAST

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000160130

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000160614

Predicted Effect

probably benign
Transcript: ENSMUST00000161608

SMART Domains

Protein: ENSMUSP00000125153
Gene: ENSMUSG00000054770

Domain	Start	End	E-Value	Type
BTB	23	123	1.01e-2	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000162410

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000189298

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000163006

Predicted Effect

probably benign
Transcript: ENSMUST00000164963

SMART Domains

Protein: ENSMUSP00000130952
Gene: ENSMUSG00000054770

Domain	Start	End	E-Value	Type
SCOP:d1t1da_	23	65	2e-11	SMART
Blast:BTB	23	107	7e-24	BLAST

Predicted Effect

probably benign
Transcript: ENSMUST00000163061

SMART Domains

Protein: ENSMUSP00000124053
Gene: ENSMUSG00000054770

Domain	Start	End	E-Value	Type
BTB	23	123	1.01e-2	SMART

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.5%
20x: 95.9%

Validation Efficiency

100% (54/54)

Allele List at MGI

Other mutations in this stock

Total: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrb3	A	T	1: 25,865,643 (GRCm39)	Y67N	probably damaging	Het
Akap8l	T	C	17: 32,564,352 (GRCm39)	T12A	probably damaging	Het
Anapc1	A	G	2: 128,466,836 (GRCm39)	V1620A	probably benign	Het
Ank2	A	G	3: 126,735,400 (GRCm39)		probably benign	Het
Ankrd34c	C	T	9: 89,611,814 (GRCm39)	V176M	possibly damaging	Het
Arhgap39	C	T	15: 76,625,735 (GRCm39)	D190N	possibly damaging	Het
Cbl	A	G	9: 44,112,416 (GRCm39)	L93P	probably damaging	Het
Crebl2	C	T	6: 134,828,103 (GRCm39)	L92F	probably damaging	Het
Dclre1a	A	G	19: 56,529,964 (GRCm39)	V791A	probably damaging	Het
Dzip1l	T	A	9: 99,521,862 (GRCm39)		probably null	Het
Echs1	T	C	7: 139,691,725 (GRCm39)		probably benign	Het
Eif1ad16	C	T	12: 87,985,366 (GRCm39)	C59Y	possibly damaging	Het
Epha4	A	G	1: 77,483,520 (GRCm39)	I163T	probably damaging	Het
Fdft1	A	G	14: 63,384,288 (GRCm39)	S388P	probably damaging	Het
Gbx2	A	G	1: 89,856,437 (GRCm39)	S318P	probably damaging	Het
Gkn1	T	A	6: 87,323,319 (GRCm39)	T165S	probably benign	Het
Gm10549	C	A	18: 33,597,358 (GRCm39)		probably benign	Het
Gm10801	G	C	2: 98,494,352 (GRCm39)	R143T	possibly damaging	Het
Gm5093	T	G	17: 46,750,916 (GRCm39)	E37A	possibly damaging	Het
Gm527	A	T	12: 64,967,620 (GRCm39)	N14I	probably damaging	Het
Gnaz	C	T	10: 74,827,235 (GRCm39)		probably benign	Het
Grik2	T	C	10: 49,399,870 (GRCm39)	T287A	probably benign	Het
Gtf2h4	T	C	17: 35,981,273 (GRCm39)	Y220C	possibly damaging	Het
Igkv8-28	T	C	6: 70,121,141 (GRCm39)	E2G	probably benign	Het
Itgbl1	T	A	14: 124,209,576 (GRCm39)	Y318*	probably null	Het
Kcnh5	T	C	12: 74,945,194 (GRCm39)	E685G	probably benign	Het
Ldhal6b	A	C	17: 5,468,094 (GRCm39)	V280G	probably damaging	Het
Ldhd	T	C	8: 112,355,703 (GRCm39)	T182A	probably damaging	Het
Lman2l	T	C	1: 36,464,038 (GRCm39)	D272G	possibly damaging	Het
Lrrc63	T	C	14: 75,363,904 (GRCm39)	T76A	probably benign	Het
Map3k3	A	G	11: 106,041,236 (GRCm39)	T402A	probably benign	Het
Mdga1	C	T	17: 30,069,525 (GRCm39)	D174N	probably benign	Het
Mob4	A	G	1: 55,187,737 (GRCm39)	M68V	probably damaging	Het
Or1j15	A	T	2: 36,458,979 (GRCm39)	Y123F	probably damaging	Het
Rassf8	A	G	6: 145,761,541 (GRCm39)	E289G	probably benign	Het
Rnf17	T	C	14: 56,703,276 (GRCm39)		probably null	Het
Rp9	A	G	9: 22,359,960 (GRCm39)		probably benign	Het
Rrm2b	T	C	15: 37,927,634 (GRCm39)	Q92R	probably benign	Het
Sema6d	C	T	2: 124,506,867 (GRCm39)	P879S	probably damaging	Het
Slc27a2	T	A	2: 126,406,658 (GRCm39)	M114K	probably benign	Het
Slc4a5	T	A	6: 83,248,011 (GRCm39)	Y521N	probably damaging	Het
Slc6a4	A	T	11: 76,901,337 (GRCm39)	N24I	probably damaging	Het
Spata13	T	A	14: 60,984,952 (GRCm39)	D815E	probably benign	Het
Spocd1	A	G	4: 129,848,738 (GRCm39)	D656G	probably damaging	Het
Susd1	T	A	4: 59,424,108 (GRCm39)	N39I	probably damaging	Het
Vps13d	G	A	4: 144,894,853 (GRCm39)	T417I	probably benign	Het
Wdr31	C	T	4: 62,381,637 (GRCm39)	V65I	probably damaging	Het
Zfp783	T	C	6: 47,925,829 (GRCm39)		probably benign	Het

Other mutations in Kctd18

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00662:Kctd18	APN	1	57,995,897 (GRCm39)	missense	probably damaging	1.00
IGL01153:Kctd18	APN	1	58,004,550 (GRCm39)	missense	probably damaging	1.00
IGL02513:Kctd18	APN	1	58,004,559 (GRCm39)	missense	probably damaging	1.00
P0043:Kctd18	UTSW	1	58,006,722 (GRCm39)	missense	probably damaging	1.00
R1823:Kctd18	UTSW	1	57,995,524 (GRCm39)	missense	probably benign	0.05
R1918:Kctd18	UTSW	1	57,998,379 (GRCm39)	missense	probably damaging	1.00
R1969:Kctd18	UTSW	1	58,006,779 (GRCm39)	missense	probably benign	0.03
R1971:Kctd18	UTSW	1	58,006,779 (GRCm39)	missense	probably benign	0.03
R2247:Kctd18	UTSW	1	58,006,801 (GRCm39)	missense	possibly damaging	0.58
R4849:Kctd18	UTSW	1	58,001,152 (GRCm39)	missense	probably damaging	0.99
R4922:Kctd18	UTSW	1	58,004,707 (GRCm39)	intron	probably benign
R5165:Kctd18	UTSW	1	57,998,395 (GRCm39)	missense	probably damaging	1.00
R5377:Kctd18	UTSW	1	58,002,252 (GRCm39)	missense	probably benign	0.43
R5782:Kctd18	UTSW	1	57,998,396 (GRCm39)	missense	probably damaging	1.00
R7132:Kctd18	UTSW	1	58,006,737 (GRCm39)	nonsense	probably null
R7253:Kctd18	UTSW	1	58,001,115 (GRCm39)	nonsense	probably null
R7272:Kctd18	UTSW	1	57,995,710 (GRCm39)	missense	probably damaging	0.97
R7880:Kctd18	UTSW	1	58,006,778 (GRCm39)	missense	possibly damaging	0.89
R8365:Kctd18	UTSW	1	57,998,311 (GRCm39)	missense	probably damaging	0.99
R8728:Kctd18	UTSW	1	58,002,289 (GRCm39)	missense	probably damaging	0.98

Predicted Primers

PCR Primer
(F):5'- GCAACACTGCCTTTACACTTTG -3'
(R):5'- TCCTAACTGCAATTCGCTGG -3'

Sequencing Primer
(F):5'- CTGTAATCCCAGGACTTAAGAGGC -3'
(R):5'- CAGTGCTGGAACTAAAGTCATGTGTC -3'

Posted On

2016-11-21