Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL00955:Kctd4'

28969

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Kctd4

Ensembl Gene

ENSMUSG00000046523

Gene Name

potassium channel tetramerisation domain containing 4

Synonyms

2210017A09Rik

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.191) question?

Stock #

IGL00955

Quality Score

Status

Chromosome

Chromosomal Location

75955009-75966206 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 75963228 bp

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 213 (D213G)

Ref Sequence

ENSEMBL: ENSMUSP00000061734 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000050120] [ENSMUST00000088922]

Predicted Effect

probably damaging
Transcript: ENSMUST00000050120
AA Change: D213G

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000061734
Gene: ENSMUSG00000046523
AA Change: D213G

Domain	Start	End	E-Value	Type
low complexity region	2	13	N/A	INTRINSIC
BTB	33	134	2.3e-6	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000088922

SMART Domains

Protein: ENSMUSP00000086312
Gene: ENSMUSG00000067995

Domain	Start	End	E-Value	Type
Pfam:TFIIF_beta	7	105	6.7e-19	PFAM
Pfam:TFIIF_beta	99	240	1e-44	PFAM

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 29 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Arl11	A	T	14: 61,311,242	Q167L	probably benign	Het
Ces3a	T	A	8: 105,050,570	V175E	probably damaging	Het
Cherp	C	T	8: 72,470,194	E140K	probably damaging	Het
Clpx	A	T	9: 65,324,270	T546S	probably damaging	Het
Csgalnact2	A	G	6: 118,129,264	L31P	probably damaging	Het
Cxcr1	A	T	1: 74,192,220	F214L	probably benign	Het
Cyp2c67	T	A	19: 39,643,385	T123S	possibly damaging	Het
Dbt	G	A	3: 116,546,114	G384S	probably benign	Het
Dzank1	G	A	2: 144,490,174	T414I	probably benign	Het
Erich3	A	G	3: 154,748,519	I641V	probably benign	Het
Gtf2e1	A	T	16: 37,535,920	D83E	possibly damaging	Het
Hars2	T	C	18: 36,789,357		probably benign	Het
Hnrnpm	C	A	17: 33,649,902	R517L	probably damaging	Het
Kcnh2	T	C	5: 24,324,966	D372G	probably damaging	Het
Kcnk2	A	T	1: 189,243,014	I264N	probably damaging	Het
Lhx9	T	C	1: 138,828,680	T323A	possibly damaging	Het
Lilra6	C	A	7: 3,911,404		probably benign	Het
Meig1	T	C	2: 3,409,274	D63G	probably damaging	Het
Mov10l1	A	G	15: 88,994,989	Y184C	probably damaging	Het
Mrpl24	T	A	3: 87,922,219	L91*	probably null	Het
Mup11	C	T	4: 60,659,550	R175H	probably benign	Het
Nbea	T	C	3: 56,005,472	K965E	possibly damaging	Het
Olfr598	C	A	7: 103,329,321	H278Q	probably damaging	Het
Papss1	G	A	3: 131,599,949	E252K	probably benign	Het
Robo2	A	T	16: 74,015,972	L278Q	probably damaging	Het
Sned1	A	T	1: 93,274,403	I638F	probably damaging	Het
Spin1	T	C	13: 51,144,541		probably null	Het
Taar9	T	C	10: 24,109,531	T2A	probably benign	Het
Tbc1d8b	T	C	X: 139,725,880		probably null	Het

Other mutations in Kctd4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00806:Kctd4	APN	14	75963008	missense	probably benign	0.17
IGL03123:Kctd4	APN	14	75962978	missense	possibly damaging	0.80
wellwater	UTSW	14	75962597	intron	probably benign
R1526:Kctd4	UTSW	14	75963083	missense	probably benign	0.00
R3780:Kctd4	UTSW	14	75962811	missense	probably benign	0.10
R3803:Kctd4	UTSW	14	75963286	missense	probably benign	0.01
R4821:Kctd4	UTSW	14	75962777	missense	probably benign	0.00
R5192:Kctd4	UTSW	14	75962687	missense	probably benign	0.01
R5196:Kctd4	UTSW	14	75962687	missense	probably benign	0.01
R5366:Kctd4	UTSW	14	75962819	missense	probably damaging	1.00
R6328:Kctd4	UTSW	14	75962597	intron	probably benign
R6818:Kctd4	UTSW	14	75963308	missense	probably damaging	0.99
X0063:Kctd4	UTSW	14	75963003	missense	possibly damaging	0.49

Posted On

2013-04-17