Mutagenetix > Incidental Mutation

Incidental Mutation 'R9153:Kctd13'

695153

Institutional Source

Beutler Lab

Gene Symbol

Kctd13

Ensembl Gene

ENSMUSG00000030685

Gene Name

potassium channel tetramerisation domain containing 13

Synonyms

Poldip1, 1500003N18Rik, Pdip1

MMRRC Submission

068940-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9153 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

126528051-126544781 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 126541327 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 189 (D189G)

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: D189G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000032924
Gene: ENSMUSG00000030685
AA Change: D189G

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

Meta Mutation Damage Score

0.4366

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

99% (73/74)

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: 75 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca6	A	T	11: 110,107,481 (GRCm39)	S711R	possibly damaging	Het
Adnp	C	A	2: 168,026,580 (GRCm39)	Q238H	possibly damaging	Het
Akap13	A	G	7: 75,259,229 (GRCm39)	T618A	probably benign	Het
Ankfn1	G	A	11: 89,302,845 (GRCm39)	R58W	probably damaging	Het
Atp8b5	A	G	4: 43,308,493 (GRCm39)		probably benign	Het
Borcs5	G	T	6: 134,618,108 (GRCm39)		probably benign	Het
C1s1	T	C	6: 124,517,906 (GRCm39)	M25V	possibly damaging	Het
Canx	A	T	11: 50,188,162 (GRCm39)	D527E	probably benign	Het
Ccdc154	G	A	17: 25,382,152 (GRCm39)	D24N	probably damaging	Het
Ccnt1	G	A	15: 98,441,159 (GRCm39)	T703I	probably benign	Het
Cd46	T	C	1: 194,774,479 (GRCm39)	S19G	possibly damaging	Het
Cdc25b	G	A	2: 131,034,564 (GRCm39)	E264K	possibly damaging	Het
Cdhr17	A	T	5: 17,040,916 (GRCm39)		probably null	Het
Cog5	A	C	12: 31,710,810 (GRCm39)	K63N	possibly damaging	Het
Col28a1	G	A	6: 8,022,765 (GRCm39)	T726I	probably benign	Het
Dhx40	A	G	11: 86,690,365 (GRCm39)	S219P	probably damaging	Het
Dnah12	T	A	14: 26,536,569 (GRCm39)	W2162R	probably damaging	Het
Eef1a2	A	G	2: 180,789,774 (GRCm39)	*464R	probably null	Het
Eif1a	T	A	18: 46,741,036 (GRCm39)	D90E	probably damaging	Het
Fasn	C	T	11: 120,706,496 (GRCm39)	R996Q	possibly damaging	Het
Foxred2	A	G	15: 77,839,787 (GRCm39)		probably null	Het
Frat2	A	G	19: 41,835,806 (GRCm39)	L182P	probably damaging	Het
Fxyd2	G	T	9: 45,319,609 (GRCm39)	V24F	probably damaging	Het
Gabrd	C	T	4: 155,470,496 (GRCm39)	V319I	probably damaging	Het
H13	T	G	2: 152,533,788 (GRCm39)	V267G	possibly damaging	Het
Hnf4g	T	C	3: 3,573,378 (GRCm39)		probably benign	Het
Iglon5	T	A	7: 43,125,421 (GRCm39)	T272S	possibly damaging	Het
Iqgap2	T	A	13: 95,844,547 (GRCm39)	M454L	probably benign	Het
Irf8	T	C	8: 121,480,400 (GRCm39)	C304R	probably benign	Het
Itga2	A	G	13: 115,001,941 (GRCm39)	F614L	probably benign	Het
Itgb4	A	C	11: 115,874,879 (GRCm39)	H412P	probably benign	Het
Jarid2	T	C	13: 45,064,678 (GRCm39)	F921S	probably damaging	Het
Meis2	G	T	2: 115,697,756 (GRCm39)	P381T	probably benign	Het
Mertk	G	T	2: 128,624,487 (GRCm39)	A633S	probably damaging	Het
Morn5	A	G	2: 35,942,993 (GRCm39)	Y31C	probably damaging	Het
Mug2	A	T	6: 122,017,627 (GRCm39)	T455S	possibly damaging	Het
Myo3a	A	G	2: 22,404,744 (GRCm39)	N700S	probably benign	Het
Nisch	T	C	14: 30,896,782 (GRCm39)	T807A	unknown	Het
Nkx1-1	A	T	5: 33,588,703 (GRCm39)	V195E	unknown	Het
Numa1	A	G	7: 101,649,118 (GRCm39)	T950A	probably benign	Het
Nup160	A	G	2: 90,514,429 (GRCm39)	T126A	possibly damaging	Het
Oca2	C	T	7: 55,943,586 (GRCm39)	T253I	probably benign	Het
Odad2	T	C	18: 7,286,733 (GRCm39)	K166R	possibly damaging	Het
Or6c209	T	A	10: 129,483,306 (GRCm39)	I103N	possibly damaging	Het
P4ha1	A	G	10: 59,203,112 (GRCm39)	K435R	probably damaging	Het
Pcdhgb4	T	A	18: 37,854,131 (GRCm39)	N175K	possibly damaging	Het
Per3	A	G	4: 151,111,796 (GRCm39)	L396P	probably benign	Het
Phactr3	A	T	2: 177,925,739 (GRCm39)	E338V	possibly damaging	Het
Plec	G	T	15: 76,064,725 (GRCm39)	R1782S	unknown	Het
Prpf39	A	T	12: 65,106,671 (GRCm39)	Q593L	probably damaging	Het
Ptprq	T	C	10: 107,416,126 (GRCm39)	Y1724C	probably damaging	Het
Pygo1	T	A	9: 72,852,143 (GRCm39)	V110D	possibly damaging	Het
Rasgrf1	T	A	9: 89,826,790 (GRCm39)	L133Q	probably damaging	Het
Rgs10	G	A	7: 127,975,733 (GRCm39)	R145C	probably damaging	Het
Secisbp2	A	G	13: 51,833,855 (GRCm39)	Y665C	possibly damaging	Het
Sel1l3	T	A	5: 53,293,188 (GRCm39)	T843S	probably benign	Het
Senp7	G	A	16: 56,006,486 (GRCm39)	V964I	probably benign	Het
Setd4	T	A	16: 93,384,722 (GRCm39)	D322V	possibly damaging	Het
Sftpc	T	A	14: 70,759,650 (GRCm39)	T90S	probably benign	Het
Shq1	A	T	6: 100,588,738 (GRCm39)	D382E	probably damaging	Het
Sim1	A	G	10: 50,772,029 (GRCm39)	R13G	probably damaging	Het
Slc12a1	T	G	2: 125,002,989 (GRCm39)		probably benign	Het
Slc27a6	T	C	18: 58,731,805 (GRCm39)	F385S	probably benign	Het
Stk38l	A	G	6: 146,660,048 (GRCm39)	T27A	probably benign	Het
Tasp1	A	G	2: 139,899,327 (GRCm39)	S9P	probably damaging	Het
Tcstv1a	T	A	13: 120,355,290 (GRCm39)	D114V	probably damaging	Het
Tmigd1	A	T	11: 76,795,468 (GRCm39)	R25S	probably benign	Het
Tnrc6a	T	A	7: 122,773,519 (GRCm39)	Y1154N	probably damaging	Het
Tox2	T	C	2: 163,045,091 (GRCm39)	V3A		Het
Ubr1	A	T	2: 120,756,469 (GRCm39)	D719E	probably benign	Het
Ubr3	A	G	2: 69,795,822 (GRCm39)	K923R		Het
Vmn2r12	C	T	5: 109,234,203 (GRCm39)	V670M	probably damaging	Het
Zfp983	T	C	17: 21,876,522 (GRCm39)	S9P	probably benign	Het
Zfp986	A	T	4: 145,626,030 (GRCm39)	H230L	probably damaging	Het
Zscan4f	G	A	7: 11,135,241 (GRCm39)	E216K	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
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

Predicted Primers

PCR Primer
(F):5'- TTCCCAGTGGTCTGAGGATG -3'
(R):5'- CCGTAGCATAGACTATGGAGGTAC -3'

Sequencing Primer
(F):5'- GTAACCTGCCTAATGTTGCCGAG -3'
(R):5'- TAGACTATGGAGGTACAGCACACC -3'

Posted On

2022-01-20