Mutagenetix > Incidental Mutation

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

Essential gene?

Probably non essential (E-score: 0.164) question?

Stock #

IGL00955

Quality Score

Status

Chromosome

Chromosomal Location

76192443-76202657 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 76200668 bp (GRCm39)

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]

AlphaFold

Q9D7X1

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: 61,548,691 (GRCm39)	Q167L	probably benign	Het
Ces3a	T	A	8: 105,777,202 (GRCm39)	V175E	probably damaging	Het
Cherp	C	T	8: 73,224,038 (GRCm39)	E140K	probably damaging	Het
Clpx	A	T	9: 65,231,552 (GRCm39)	T546S	probably damaging	Het
Csgalnact2	A	G	6: 118,106,225 (GRCm39)	L31P	probably damaging	Het
Cxcr1	A	T	1: 74,231,379 (GRCm39)	F214L	probably benign	Het
Cyp2c67	T	A	19: 39,631,829 (GRCm39)	T123S	possibly damaging	Het
Dbt	G	A	3: 116,339,763 (GRCm39)	G384S	probably benign	Het
Dzank1	G	A	2: 144,332,094 (GRCm39)	T414I	probably benign	Het
Erich3	A	G	3: 154,454,156 (GRCm39)	I641V	probably benign	Het
Gtf2e1	A	T	16: 37,356,282 (GRCm39)	D83E	possibly damaging	Het
Hars2	T	C	18: 36,922,410 (GRCm39)		probably benign	Het
Hnrnpm	C	A	17: 33,868,876 (GRCm39)	R517L	probably damaging	Het
Kcnh2	T	C	5: 24,529,964 (GRCm39)	D372G	probably damaging	Het
Kcnk2	A	T	1: 188,975,211 (GRCm39)	I264N	probably damaging	Het
Lhx9	T	C	1: 138,756,418 (GRCm39)	T323A	possibly damaging	Het
Lilra6	C	A	7: 3,914,403 (GRCm39)		probably benign	Het
Meig1	T	C	2: 3,410,311 (GRCm39)	D63G	probably damaging	Het
Mov10l1	A	G	15: 88,879,192 (GRCm39)	Y184C	probably damaging	Het
Mrpl24	T	A	3: 87,829,526 (GRCm39)	L91*	probably null	Het
Mup11	C	T	4: 60,615,549 (GRCm39)	R175H	probably benign	Het
Nbea	T	C	3: 55,912,893 (GRCm39)	K965E	possibly damaging	Het
Or52ab7	C	A	7: 102,978,528 (GRCm39)	H278Q	probably damaging	Het
Papss1	G	A	3: 131,305,710 (GRCm39)	E252K	probably benign	Het
Robo2	A	T	16: 73,812,860 (GRCm39)	L278Q	probably damaging	Het
Sned1	A	T	1: 93,202,125 (GRCm39)	I638F	probably damaging	Het
Spin1	T	C	13: 51,298,577 (GRCm39)		probably null	Het
Taar9	T	C	10: 23,985,429 (GRCm39)	T2A	probably benign	Het
Tbc1d8b	T	C	X: 138,626,629 (GRCm39)		probably null	Het

Other mutations in Kctd4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00806:Kctd4	APN	14	76,200,448 (GRCm39)	missense	probably benign	0.17
IGL03123:Kctd4	APN	14	76,200,418 (GRCm39)	missense	possibly damaging	0.80
wellwater	UTSW	14	76,200,037 (GRCm39)	intron	probably benign
R1526:Kctd4	UTSW	14	76,200,523 (GRCm39)	missense	probably benign	0.00
R3780:Kctd4	UTSW	14	76,200,251 (GRCm39)	missense	probably benign	0.10
R3803:Kctd4	UTSW	14	76,200,726 (GRCm39)	missense	probably benign	0.01
R4821:Kctd4	UTSW	14	76,200,217 (GRCm39)	missense	probably benign	0.00
R5192:Kctd4	UTSW	14	76,200,127 (GRCm39)	missense	probably benign	0.01
R5196:Kctd4	UTSW	14	76,200,127 (GRCm39)	missense	probably benign	0.01
R5366:Kctd4	UTSW	14	76,200,259 (GRCm39)	missense	probably damaging	1.00
R6328:Kctd4	UTSW	14	76,200,037 (GRCm39)	intron	probably benign
R6818:Kctd4	UTSW	14	76,200,748 (GRCm39)	missense	probably damaging	0.99
R8713:Kctd4	UTSW	14	76,200,366 (GRCm39)	missense	probably benign	0.00
R8866:Kctd4	UTSW	14	76,200,465 (GRCm39)	missense	probably benign	0.09
X0063:Kctd4	UTSW	14	76,200,443 (GRCm39)	missense	possibly damaging	0.49

Posted On

2013-04-17