Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02890:Kctd13'

363137

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Kctd13

Ensembl Gene

ENSMUSG00000030685

Gene Name

potassium channel tetramerisation domain containing 13

Synonyms

Poldip1, 1500003N18Rik, Pdip1

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02890

Quality Score

Status

Chromosome

Chromosomal Location

126528051-126544781 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 126529903 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Arginine at position 115 (G115R)

Ref Sequence

ENSEMBL: ENSMUSP00000032924 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000032924]

AlphaFold

Q8BGV7

Predicted Effect

probably benign
Transcript: ENSMUST00000032924
AA Change: G115R

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000032924
Gene: ENSMUSG00000030685
AA Change: G115R

Domain	Start	End	E-Value	Type
low complexity region	2	14	N/A	INTRINSIC
low complexity region	18	32	N/A	INTRINSIC
BTB	41	141	6.48e-15	SMART
low complexity region	276	314	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000141369

Coding Region Coverage

Validation Efficiency

MGI Phenotype

PHENOTYPE: Mice homozygous for a knock-out allele exhibit reduced synaptic transmission, abnormal hippocampal pyramidal neuron dendrite morphology, and hyperactivity with no detectable changes in body weight, brain size or neurogenesis. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam39	A	T	8: 41,278,190 (GRCm39)	I194L	probably benign	Het
Akirin1	A	G	4: 123,631,855 (GRCm39)	V171A	probably damaging	Het
Camk2b	A	T	11: 5,951,340 (GRCm39)	D91E	possibly damaging	Het
Ccser1	A	G	6: 62,356,815 (GRCm39)	D751G	probably damaging	Het
D6Wsu163e	G	A	6: 126,951,450 (GRCm39)	G500D	probably damaging	Het
Dchs1	G	T	7: 105,405,698 (GRCm39)	D2395E	probably damaging	Het
Entrep3	A	T	3: 89,094,089 (GRCm39)	T223S	possibly damaging	Het
Fat3	T	C	9: 15,826,636 (GRCm39)	T4439A	probably benign	Het
Fn1	A	G	1: 71,637,531 (GRCm39)		probably null	Het
Galnt14	A	C	17: 73,816,519 (GRCm39)		probably null	Het
Gemin4	A	C	11: 76,102,090 (GRCm39)	S890R	probably damaging	Het
Glrp1	T	A	1: 88,437,510 (GRCm39)		probably null	Het
Grik1	A	G	16: 87,693,690 (GRCm39)		probably benign	Het
H2bc14	G	T	13: 21,906,356 (GRCm39)	R30L	probably benign	Het
Hspa12a	C	T	19: 58,809,431 (GRCm39)		probably null	Het
Hykk	C	T	9: 54,827,995 (GRCm39)	P78L	probably benign	Het
Kctd16	A	G	18: 40,390,080 (GRCm39)		probably benign	Het
Ltn1	C	T	16: 87,206,185 (GRCm39)		probably null	Het
Mat2a	A	G	6: 72,413,229 (GRCm39)	L167P	probably damaging	Het
Myo6	A	G	9: 80,173,456 (GRCm39)	E532G	probably damaging	Het
Nrbp2	G	T	15: 75,961,306 (GRCm39)	L272M	probably damaging	Het
Nrdc	A	G	4: 108,911,116 (GRCm39)	D790G	possibly damaging	Het
Or4e5	T	A	14: 52,728,368 (GRCm39)	T18S	probably benign	Het
Or5k16	T	C	16: 58,736,737 (GRCm39)	D89G	probably benign	Het
Or8g26	T	C	9: 39,095,564 (GRCm39)	L27P	probably damaging	Het
Pcdh10	A	T	3: 45,347,052 (GRCm39)	H949L	probably damaging	Het
Pikfyve	A	G	1: 65,269,956 (GRCm39)	Y547C	probably benign	Het
Pkhd1	A	T	1: 20,431,235 (GRCm39)	V2392D	probably damaging	Het
Ppp1r3g	A	T	13: 36,153,314 (GRCm39)	T245S	probably damaging	Het
Prkaa1	A	G	15: 5,206,567 (GRCm39)	N439S	possibly damaging	Het
Radil	A	G	5: 142,529,463 (GRCm39)	Y78H	probably damaging	Het
Ric8b	A	T	10: 84,837,731 (GRCm39)	M513L	possibly damaging	Het
Slc4a10	T	C	2: 62,117,260 (GRCm39)	S740P	probably damaging	Het
Slc5a12	T	C	2: 110,454,478 (GRCm39)		probably benign	Het
Smg1	G	A	7: 117,784,724 (GRCm39)		probably benign	Het
Spef2	C	T	15: 9,748,853 (GRCm39)	M1I	probably null	Het
Tmc5	A	T	7: 118,244,653 (GRCm39)		probably benign	Het
Tpp2	C	T	1: 44,038,850 (GRCm39)	A1132V	probably damaging	Het
Ttll4	A	T	1: 74,726,498 (GRCm39)	K699*	probably null	Het

Other mutations in Kctd13

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02617:Kctd13	APN	7	126,541,504 (GRCm39)	missense	possibly damaging	0.64
IGL03339:Kctd13	APN	7	126,544,190 (GRCm39)	missense	probably benign
R5322:Kctd13	UTSW	7	126,528,378 (GRCm39)	missense	probably damaging	1.00
R6365:Kctd13	UTSW	7	126,529,862 (GRCm39)	missense	probably damaging	1.00
R7585:Kctd13	UTSW	7	126,528,458 (GRCm39)	missense	possibly damaging	0.51
R8036:Kctd13	UTSW	7	126,528,414 (GRCm39)	missense	possibly damaging	0.81
R8846:Kctd13	UTSW	7	126,544,191 (GRCm39)	missense	probably benign
R9153:Kctd13	UTSW	7	126,541,327 (GRCm39)	missense	probably damaging	1.00
R9311:Kctd13	UTSW	7	126,541,345 (GRCm39)	missense	probably damaging	1.00
R9459:Kctd13	UTSW	7	126,544,254 (GRCm39)	missense	probably damaging	0.99
R9610:Kctd13	UTSW	7	126,544,180 (GRCm39)	missense	probably damaging	1.00
R9611:Kctd13	UTSW	7	126,544,180 (GRCm39)	missense	probably damaging	1.00

Posted On

2015-12-18