Mutagenetix > Incidental Mutation

Incidental Mutation 'R5348:Kctd21'

422735

Institutional Source

Beutler Lab

Gene Symbol

Kctd21

Ensembl Gene

ENSMUSG00000044952

Gene Name

potassium channel tetramerisation domain containing 21

Synonyms

EG622320

MMRRC Submission

042927-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.096) question?

Stock #

R5348 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

96981534-96999420 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 96997177 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 217 (I217V)

Ref Sequence

ENSEMBL: ENSMUSP00000051316 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000054107]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000054107
AA Change: I217V

PolyPhen 2 Score 0.326 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000051316
Gene: ENSMUSG00000044952
AA Change: I217V

Domain	Start	End	E-Value	Type
BTB	3	104	6.39e-14	SMART

Coding Region Coverage

1x: 99.3%
3x: 98.8%
10x: 97.6%
20x: 96.0%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 36 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcg5	A	T	17: 84,978,634 (GRCm39)	C275S	possibly damaging	Het
Bltp1	A	G	3: 37,102,295 (GRCm39)	E1331G	probably damaging	Het
Cdk12	T	A	11: 98,095,118 (GRCm39)	S309T	probably benign	Het
Cep295nl	T	C	11: 118,224,425 (GRCm39)	R140G	probably damaging	Het
Chd8	A	G	14: 52,470,155 (GRCm39)	V485A	probably damaging	Het
Chn2	A	G	6: 54,277,203 (GRCm39)	I279V	probably damaging	Het
Cux2	A	G	5: 122,004,041 (GRCm39)	S1032P	probably damaging	Het
Ddx55	T	A	5: 124,692,628 (GRCm39)	M44K	probably damaging	Het
Dpyd	T	A	3: 118,575,592 (GRCm39)	H143Q	probably benign	Het
Fbxo10	A	G	4: 45,058,934 (GRCm39)	W268R	probably damaging	Het
Gmfg	A	G	7: 28,145,819 (GRCm39)	D86G	probably benign	Het
Gpd1	T	C	15: 99,620,021 (GRCm39)	V273A	possibly damaging	Het
Grhpr	T	C	4: 44,985,393 (GRCm39)	I158T	probably damaging	Het
Itpr2	A	G	6: 146,378,191 (GRCm39)	F53L	possibly damaging	Het
Lrfn2	A	G	17: 49,403,718 (GRCm39)	T614A	probably benign	Het
Lrrc7	T	A	3: 157,880,963 (GRCm39)	D491V	probably benign	Het
Myo7b	T	C	18: 32,116,972 (GRCm39)	E916G	probably damaging	Het
Nf1	C	T	11: 79,455,725 (GRCm39)	T550I	probably damaging	Het
Nsd1	A	G	13: 55,460,147 (GRCm39)	T2125A	probably benign	Het
Olfml2b	A	G	1: 170,489,995 (GRCm39)	E205G	probably benign	Het
Or8k37	A	T	2: 86,469,150 (GRCm39)	L301I	probably benign	Het
Papolb	T	C	5: 142,514,972 (GRCm39)	T224A	possibly damaging	Het
Pcnx2	T	C	8: 126,545,495 (GRCm39)	E1172G	probably damaging	Het
Ppip5k2	A	G	1: 97,675,317 (GRCm39)	L362S	possibly damaging	Het
Ppp1r9b	T	A	11: 94,887,438 (GRCm39)	Y59*	probably null	Het
Pramel12	T	C	4: 143,143,351 (GRCm39)	L39P	probably damaging	Het
Rapgef5	T	A	12: 117,652,346 (GRCm39)	S76R	probably benign	Het
Rnh1	A	T	7: 140,743,321 (GRCm39)	V218D	probably damaging	Het
Robo4	CGG	CG	9: 37,322,786 (GRCm39)		probably null	Het
Slc4a7	G	T	14: 14,786,310 (GRCm38)	V999L	probably benign	Het
Slco4c1	A	T	1: 96,770,254 (GRCm39)	I270N	probably damaging	Het
Tdp1	A	G	12: 99,881,765 (GRCm39)	Y498C	probably damaging	Het
Tfip11	A	G	5: 112,483,534 (GRCm39)	S650G	probably benign	Het
Ttn	T	C	2: 76,608,638 (GRCm39)	T17793A	possibly damaging	Het
Ulk2	T	C	11: 61,674,439 (GRCm39)	T856A	probably benign	Het
Vps13d	C	T	4: 144,792,459 (GRCm39)	G3726E	probably damaging	Het

Other mutations in Kctd21

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01358:Kctd21	APN	7	96,996,581 (GRCm39)	missense	probably damaging	1.00
R0123:Kctd21	UTSW	7	96,997,298 (GRCm39)	missense	probably benign	0.04
R0134:Kctd21	UTSW	7	96,997,298 (GRCm39)	missense	probably benign	0.04
R0225:Kctd21	UTSW	7	96,997,298 (GRCm39)	missense	probably benign	0.04
R0469:Kctd21	UTSW	7	96,996,748 (GRCm39)	missense	probably damaging	1.00
R0510:Kctd21	UTSW	7	96,996,748 (GRCm39)	missense	probably damaging	1.00
R0606:Kctd21	UTSW	7	96,996,808 (GRCm39)	missense	probably benign	0.01
R1438:Kctd21	UTSW	7	96,996,704 (GRCm39)	missense	probably damaging	0.98
R4625:Kctd21	UTSW	7	96,996,782 (GRCm39)	missense	probably damaging	1.00
R4626:Kctd21	UTSW	7	96,996,782 (GRCm39)	missense	probably damaging	1.00
R4628:Kctd21	UTSW	7	96,996,782 (GRCm39)	missense	probably damaging	1.00
R4629:Kctd21	UTSW	7	96,996,782 (GRCm39)	missense	probably damaging	1.00
R6075:Kctd21	UTSW	7	96,996,614 (GRCm39)	missense	probably damaging	1.00
R6452:Kctd21	UTSW	7	96,996,869 (GRCm39)	missense	probably benign	0.04
R6736:Kctd21	UTSW	7	96,997,291 (GRCm39)	missense	probably damaging	0.99
R7402:Kctd21	UTSW	7	96,996,970 (GRCm39)	missense	possibly damaging	0.84
R7782:Kctd21	UTSW	7	96,997,297 (GRCm39)	missense	probably benign
R8214:Kctd21	UTSW	7	96,996,548 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GTGTTCAACGCCAACATCTTC -3'
(R):5'- GACATGAGCTGCTTGGGAAC -3'

Sequencing Primer
(F):5'- AACATCTTCAGCACGTCCTG -3'
(R):5'- TGCTTGGGAACGCCTTC -3'

Posted On

2016-08-04