Mutagenetix > Incidental Mutation

Incidental Mutation 'R9611:Kctd13'

724216

Institutional Source

Beutler Lab

Gene Symbol

Kctd13

Ensembl Gene

ENSMUSG00000030685

Gene Name

potassium channel tetramerisation domain containing 13

Synonyms

Poldip1, 1500003N18Rik, Pdip1

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9611 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

126528051-126544781 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 126544180 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Cysteine at position 293 (G293C)

Ref Sequence

ENSEMBL: ENSMUSP00000032924 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000032924] [ENSMUST00000052937] [ENSMUST00000106339] [ENSMUST00000106340]

AlphaFold

Q8BGV7

Predicted Effect

probably damaging
Transcript: ENSMUST00000032924
AA Change: G293C

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000032924
Gene: ENSMUSG00000030685
AA Change: G293C

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

probably benign
Transcript: ENSMUST00000052937

SMART Domains

Protein: ENSMUSP00000049848
Gene: ENSMUSG00000046378

Domain	Start	End	E-Value	Type
Pfam:Asp_Arg_Hydrox	1	92	5.5e-25	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000106339

SMART Domains

Protein: ENSMUSP00000101946
Gene: ENSMUSG00000046378

Domain	Start	End	E-Value	Type
Pfam:Asp_Arg_Hydrox	1	92	5.5e-25	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000106340

SMART Domains

Protein: ENSMUSP00000101947
Gene: ENSMUSG00000046378

Domain	Start	End	E-Value	Type
transmembrane domain	46	68	N/A	INTRINSIC
low complexity region	115	128	N/A	INTRINSIC
low complexity region	138	153	N/A	INTRINSIC
low complexity region	157	170	N/A	INTRINSIC
Pfam:Asp_Arg_Hydrox	191	342	1.4e-41	PFAM

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.2%

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: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts19	A	T	18: 59,023,399 (GRCm39)	T265S	probably benign	Het
Ahnak	T	A	19: 8,989,162 (GRCm39)	L3482Q	probably damaging	Het
Arhgef5	A	G	6: 43,257,890 (GRCm39)	I1311M	probably damaging	Het
Bcr	T	A	10: 74,990,743 (GRCm39)	Y750N	probably damaging	Het
Bcr	T	A	10: 74,990,745 (GRCm39)	Y750*	probably null	Het
Btbd16	T	A	7: 130,407,595 (GRCm39)	M295K	probably benign	Het
Ccdc88a	T	C	11: 29,427,316 (GRCm39)	L1007P	possibly damaging	Het
Cnep1r1	A	G	8: 88,860,457 (GRCm39)	*126W	probably null	Het
Cntnap5b	C	A	1: 99,894,935 (GRCm39)	P69Q	probably damaging	Het
Coa8	T	G	12: 111,700,108 (GRCm39)	Y163D	probably damaging	Het
Col4a3	A	G	1: 82,678,018 (GRCm39)	M1207V	unknown	Het
Colgalt2	T	A	1: 152,360,745 (GRCm39)	W261R	probably damaging	Het
Cstf1	T	A	2: 172,214,984 (GRCm39)	I35N	probably benign	Het
Cstpp1	T	C	2: 91,135,127 (GRCm39)	D111G	probably damaging	Het
Cul9	A	G	17: 46,830,823 (GRCm39)	L1690P	possibly damaging	Het
Dscaml1	C	A	9: 45,579,522 (GRCm39)	N356K	possibly damaging	Het
Ecm2	A	G	13: 49,668,518 (GRCm39)	N74D	probably benign	Het
Ecm2	A	G	13: 49,681,216 (GRCm39)	I450M	probably damaging	Het
Emc1	T	A	4: 139,091,035 (GRCm39)	D460E	probably benign	Het
Fhip2b	T	C	14: 70,824,258 (GRCm39)	Y493C	probably benign	Het
Fmo5	C	T	3: 97,549,089 (GRCm39)	R246C	possibly damaging	Het
Fyco1	T	C	9: 123,657,585 (GRCm39)	T864A	possibly damaging	Het
Galk2	T	C	2: 125,817,218 (GRCm39)	Y336H	probably damaging	Het
Gcsh	T	A	8: 117,720,125 (GRCm39)	Y14F	probably benign	Het
Grip1	G	A	10: 119,874,569 (GRCm39)	E778K	possibly damaging	Het
Gucy2g	T	C	19: 55,194,605 (GRCm39)	I937M	probably damaging	Het
Hsp90ab1	T	C	17: 45,880,600 (GRCm39)	I370M	possibly damaging	Het
Hypk	T	C	2: 121,288,154 (GRCm39)	S72P	probably damaging	Het
Ighv1-26	T	C	12: 114,752,206 (GRCm39)	Y46C	probably damaging	Het
Kmt2d	CTGCTGTTGCTG	CTGCTG	15: 98,743,054 (GRCm39)		probably benign	Het
Kmt2d	CTGTTG	CTG	15: 98,743,057 (GRCm39)		probably benign	Het
Krt13	T	C	11: 100,012,318 (GRCm39)	S2G	probably benign	Het
Mark4	C	A	7: 19,167,338 (GRCm39)	R467L	possibly damaging	Het
Mrps33	T	A	6: 39,779,422 (GRCm39)	K91M	probably damaging	Het
Or51f1	T	G	7: 102,506,147 (GRCm39)	H114P	probably damaging	Het
Or5ac25	A	C	16: 59,182,242 (GRCm39)	I113S	probably benign	Het
Peg10	GC	GCTCC	6: 4,756,452 (GRCm39)		probably benign	Het
Peg10	C	CTCA	6: 4,756,453 (GRCm39)		probably benign	Het
Phldb3	G	A	7: 24,328,372 (GRCm39)	V639M	probably damaging	Het
Pigyl	A	T	9: 22,069,499 (GRCm39)	H70L	probably damaging	Het
Pip4k2c	A	C	10: 127,036,069 (GRCm39)	L266R	probably damaging	Het
Plg	T	C	17: 12,609,213 (GRCm39)	Y173H	probably benign	Het
Pmp22	G	T	11: 63,024,065 (GRCm39)	V25F	probably benign	Het
Pot1b	T	A	17: 56,006,995 (GRCm39)	T41S	probably benign	Het
Ppp1r16b	T	A	2: 158,537,998 (GRCm39)	Y40N	probably damaging	Het
Prl5a1	A	G	13: 28,329,492 (GRCm39)	E57G	possibly damaging	Het
Prpf3	G	A	3: 95,758,931 (GRCm39)	R74*	probably null	Het
Psmb10	A	G	8: 106,664,144 (GRCm39)	F75S	probably benign	Het
Ptprm	C	A	17: 67,000,483 (GRCm39)	R1167M	probably damaging	Het
Rmnd5b	T	C	11: 51,517,869 (GRCm39)	I162V	probably damaging	Het
Sik1	T	A	17: 32,073,246 (GRCm39)	K70M	probably damaging	Het
Slc44a4	C	T	17: 35,147,793 (GRCm39)	S611F	probably benign	Het
St18	T	C	1: 6,873,147 (GRCm39)	V294A	probably benign	Het
Stk32a	A	G	18: 43,430,620 (GRCm39)	I177V	probably benign	Het
Syne2	T	C	12: 76,080,460 (GRCm39)	F58S	probably benign	Het
Tcf7l2	A	G	19: 55,899,038 (GRCm39)	D215G	probably null	Het
Tcirg1	A	T	19: 3,953,400 (GRCm39)	F149Y	probably benign	Het
Tex14	T	A	11: 87,377,084 (GRCm39)	F143I	probably damaging	Het
Tjp3	A	G	10: 81,119,411 (GRCm39)	V26A	possibly damaging	Het
Tnfaip8	ACACACTCTC	AC	18: 50,179,908 (GRCm39)		probably benign	Het
Tpx2	T	A	2: 152,715,124 (GRCm39)	V115D	probably benign	Het
Tubb2b	C	A	13: 34,311,742 (GRCm39)	K350N	probably damaging	Het
Vps13b	G	T	15: 35,642,555 (GRCm39)	G1389V	possibly damaging	Het
Vps39	T	C	2: 120,172,485 (GRCm39)	R183G	probably damaging	Het
Wdr47	A	T	3: 108,518,729 (GRCm39)	E72D	probably damaging	Het
Wnk4	G	T	11: 101,159,250 (GRCm39)	E556*	probably null	Het
Xpo7	T	A	14: 70,925,617 (GRCm39)	E474V	probably benign	Het
Zfat	A	G	15: 68,051,655 (GRCm39)	V713A	possibly damaging	Het
Zfp189	G	T	4: 49,530,058 (GRCm39)	C387F	probably damaging	Het
Zmiz1	T	C	14: 25,651,022 (GRCm39)	V502A	probably benign	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
IGL02890:Kctd13	APN	7	126,529,903 (GRCm39)	missense	probably benign	0.01
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

Predicted Primers

PCR Primer
(F):5'- CAAGTCTAACTGCCTTTGGGG -3'
(R):5'- GGCTCACTGAAAACAGCATGC -3'

Sequencing Primer
(F):5'- CTGGAGGAGCCCACAGAG -3'
(R):5'- ACGACTTGGCCAGCAGAG -3'

Posted On

2022-09-12