Mutagenetix > Incidental Mutation

Incidental Mutation 'R8214:Kctd21'

636311

Institutional Source

Beutler Lab

Gene Symbol

Kctd21

Ensembl Gene

ENSMUSG00000044952

Gene Name

potassium channel tetramerisation domain containing 21

Synonyms

EG622320

MMRRC Submission

067656-MU

Accession Numbers

Essential gene?

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

Stock #

R8214 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

96981534-96999420 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 96996548 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 7 (L7P)

Ref Sequence

ENSEMBL: ENSMUSP00000051316 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000054107
AA Change: L7P

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

SMART Domains

Protein: ENSMUSP00000051316
Gene: ENSMUSG00000044952
AA Change: L7P

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

Meta Mutation Damage Score

0.9746

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

Validation Efficiency

100% (42/42)

Allele List at MGI

Other mutations in this stock

Total: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930438A08Rik	G	A	11: 58,177,447 (GRCm39)	R52Q		Het
Abcc3	C	T	11: 94,254,344 (GRCm39)	R718H	probably damaging	Het
Abcc4	T	C	14: 118,738,253 (GRCm39)	M1166V	probably benign	Het
Abhd16b	C	T	2: 181,135,983 (GRCm39)	T295I	probably damaging	Het
Amph	A	G	13: 19,288,468 (GRCm39)	N319S	possibly damaging	Het
Ankrd27	A	G	7: 35,313,944 (GRCm39)	D425G	probably damaging	Het
Atg4b	T	C	1: 93,712,609 (GRCm39)	S316P	probably damaging	Het
Brd4	A	G	17: 32,431,921 (GRCm39)	S649P	probably benign	Het
Bzw1	T	C	1: 58,444,196 (GRCm39)	S411P	probably damaging	Het
Carmil1	T	C	13: 24,228,215 (GRCm39)	E987G	probably damaging	Het
Dnah6	T	C	6: 73,021,711 (GRCm39)	D3537G	probably damaging	Het
Dnpep	A	T	1: 75,292,642 (GRCm39)	W126R	probably damaging	Het
Efcab2	T	C	1: 178,265,015 (GRCm39)	V27A	probably benign	Het
Kidins220	C	T	12: 25,044,854 (GRCm39)	T216I	probably damaging	Het
Lpl	T	A	8: 69,345,257 (GRCm39)	M87K	probably damaging	Het
Ltn1	A	G	16: 87,177,691 (GRCm39)	V1646A	probably benign	Het
Madcam1	A	G	10: 79,502,592 (GRCm39)	T359A	probably benign	Het
Muc5ac	A	G	7: 141,356,685 (GRCm39)	K1092E	possibly damaging	Het
Nrg2	T	C	18: 36,329,729 (GRCm39)	E162G	probably benign	Het
Or10ak11	A	T	4: 118,687,288 (GRCm39)	F117L	probably benign	Het
Or52e2	A	C	7: 102,804,613 (GRCm39)	S114A	probably damaging	Het
Or5p54	T	A	7: 107,554,174 (GRCm39)	S109T	probably benign	Het
Pcdhb5	G	T	18: 37,454,636 (GRCm39)	V339L	probably benign	Het
Plec	A	G	15: 76,076,484 (GRCm39)	W145R	unknown	Het
Polr3f	A	G	2: 144,378,230 (GRCm39)	N201D	probably benign	Het
Skint5	T	C	4: 113,662,139 (GRCm39)		probably null	Het
Slc12a2	A	G	18: 58,070,791 (GRCm39)	I1048V	probably benign	Het
Sult2a4	A	G	7: 13,723,401 (GRCm39)	I39T	probably benign	Het
Tenm4	T	C	7: 96,544,614 (GRCm39)	V2247A	probably damaging	Het
Tg	C	T	15: 66,645,247 (GRCm39)	R2385C	probably damaging	Het
Tomm70a	G	T	16: 56,942,330 (GRCm39)	A36S	unknown	Het
Top2b	G	A	14: 16,383,177 (GRCm38)	R55H	probably damaging	Het
Tut4	A	G	4: 108,369,347 (GRCm39)	I636V	probably benign	Het
Unc45b	A	G	11: 82,824,714 (GRCm39)	I629M	possibly damaging	Het
Vmn1r16	T	C	6: 57,300,424 (GRCm39)	E66G	noncoding transcript	Het
Vmn1r189	C	T	13: 22,286,301 (GRCm39)	V179I	probably benign	Het
Vmn2r105	T	G	17: 20,448,775 (GRCm39)	E134A	probably benign	Het
Wdr70	G	A	15: 7,916,851 (GRCm39)	A522V	probably benign	Het
Zfp184	T	A	13: 22,142,995 (GRCm39)	C234S	probably damaging	Het
Zscan5b	C	T	7: 6,236,946 (GRCm39)	P232S	possibly 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
R5348:Kctd21	UTSW	7	96,997,177 (GRCm39)	missense	probably benign	0.33
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

Predicted Primers

PCR Primer
(F):5'- GGACTGTGACTATGTAGATATGGC -3'
(R):5'- ATCTCCTGGAAGTCCTCTGG -3'

Sequencing Primer
(F):5'- CGAGACAGGGTTTCTCTGTATAGCC -3'
(R):5'- TGGAAGTCCTCTGGCAGATC -3'

Posted On

2020-07-13