Mutagenetix > Incidental Mutation

Incidental Mutation 'R9459:Kctd13'

714763

Institutional Source

Beutler Lab

Gene Symbol

Kctd13

Ensembl Gene

ENSMUSG00000030685

Gene Name

potassium channel tetramerisation domain containing 13

Synonyms

Pdip1, Poldip1, 1500003N18Rik

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9459 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

126928879-126945631 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 126945082 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 317 (D317E)

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: D317E

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000032924
Gene: ENSMUSG00000030685
AA Change: D317E

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: 98.9%

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: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700020D05Rik	T	A	19: 5,503,729	H8L	probably benign	Het
Abcb1a	T	A	5: 8,685,414		probably null	Het
Alms1	T	A	6: 85,627,964	C2199S	probably damaging	Het
Aox3	A	G	1: 58,150,309	I390V	probably benign	Het
Ap3b2	T	C	7: 81,473,903	N400S	probably benign	Het
Baalc	A	T	15: 38,934,024	N70I	probably benign	Het
Brca2	T	A	5: 150,540,629	V1286D	probably damaging	Het
Ccdc30	T	C	4: 119,377,273	R81G	possibly damaging	Het
Cd209g	T	C	8: 4,135,610	S15P	probably benign	Het
Chrnb3	G	A	8: 27,393,856	W207*	probably null	Het
Cmpk2	C	T	12: 26,478,023	T413M	probably damaging	Het
Coq4	T	A	2: 29,788,550	Y63N	probably damaging	Het
Depdc5	T	A	5: 32,990,773	S1478T	probably damaging	Het
Etf1	A	G	18: 34,906,081	F378L	probably benign	Het
Exoc6	T	C	19: 37,585,893	V324A	probably benign	Het
Frem2	A	G	3: 53,653,486	L1200P	probably benign	Het
Gadl1	T	C	9: 115,965,611	W285R	probably damaging	Het
Gbp3	A	G	3: 142,564,946		probably null	Het
Gm14295	C	T	2: 176,807,372	T5I	possibly damaging	Het
Hps4	T	C	5: 112,375,009	S578P	probably benign	Het
Kdm4b	T	A	17: 56,399,509	D881E	probably benign	Het
Klf10	G	A	15: 38,295,927	P473L	probably damaging	Het
Lrch3	A	T	16: 32,979,405	D371V	probably damaging	Het
Msh2	T	C	17: 87,678,330	S112P	possibly damaging	Het
Msh3	A	G	13: 92,215,539	V1036A	possibly damaging	Het
Mybl1	A	G	1: 9,676,259	V392A	possibly damaging	Het
Myo7a	T	C	7: 98,073,173	I1182V	possibly damaging	Het
Nectin1	A	C	9: 43,803,793	E442A	probably benign	Het
Obsl1	G	T	1: 75,498,240	H839N	probably benign	Het
Olfr1202	T	C	2: 88,817,623	F151L	probably benign	Het
Olfr1505	T	C	19: 13,919,310	C97R	possibly damaging	Het
Pacs1	C	T	19: 5,145,070		probably null	Het
Pcdh17	G	T	14: 84,448,623	E843D	probably benign	Het
Pcnt	A	G	10: 76,392,738	L1531P	probably damaging	Het
Pdgfra	A	G	5: 75,192,468	D973G	probably damaging	Het
Pkd2	A	G	5: 104,466,934	Y214C	probably damaging	Het
Plcb1	T	C	2: 135,322,638	Y427H	probably benign	Het
Ppm1h	A	G	10: 122,907,577	N402S	possibly damaging	Het
Rassf4	T	A	6: 116,641,788		probably null	Het
Ryr1	G	A	7: 29,068,643	T2856I	probably damaging	Het
Serpinb8	A	T	1: 107,605,790	K192*	probably null	Het
Slfn14	T	G	11: 83,279,372	Q482P	possibly damaging	Het
Spata2	A	G	2: 167,485,285	V64A	probably benign	Het
Tax1bp1	T	G	6: 52,729,329	V105G	probably damaging	Het
Tbc1d22a	T	G	15: 86,235,820	S142A	possibly damaging	Het
Tdrd9	T	C	12: 112,025,573	F594S	probably damaging	Het
Uba3	T	C	6: 97,189,598	I281V	probably benign	Het
Uggt2	T	C	14: 119,049,183	E723G	probably benign	Het
Usp20	C	T	2: 31,011,012	S391F	probably damaging	Het
Usp24	T	A	4: 106,342,358	D166E	probably damaging	Het
Vmn1r1	A	G	1: 182,157,938	V54A	probably benign	Het
Zfp442	T	A	2: 150,408,748	E411D	unknown	Het
Zfp804a	T	C	2: 82,259,409	I1194T	probably damaging	Het

Other mutations in Kctd13

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02617:Kctd13	APN	7	126942332	missense	possibly damaging	0.64
IGL02890:Kctd13	APN	7	126930731	missense	probably benign	0.01
IGL03339:Kctd13	APN	7	126945018	missense	probably benign
R5322:Kctd13	UTSW	7	126929206	missense	probably damaging	1.00
R6365:Kctd13	UTSW	7	126930690	missense	probably damaging	1.00
R7585:Kctd13	UTSW	7	126929286	missense	possibly damaging	0.51
R8036:Kctd13	UTSW	7	126929242	missense	possibly damaging	0.81
R8846:Kctd13	UTSW	7	126945019	missense	probably benign
R9153:Kctd13	UTSW	7	126942155	missense	probably damaging	1.00
R9311:Kctd13	UTSW	7	126942173	missense	probably damaging	1.00
R9610:Kctd13	UTSW	7	126945008	missense	probably damaging	1.00
R9611:Kctd13	UTSW	7	126945008	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GCTCGGATCTTTGAGGAGACAC -3'
(R):5'- TGCTGGAATGTACCATGTGG -3'

Sequencing Primer
(F):5'- GATCTTTGAGGAGACACTGAACATC -3'
(R):5'- AGCAGTGAGTGGTGATGACTG -3'

Posted On

2022-06-15