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

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.126) question?

Stock #

R8214 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

97332327-97350213 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 97347341 bp (GRCm38)

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: 58,286,621	R52Q		Het
Abcc3	C	T	11: 94,363,518	R718H	probably damaging	Het
Abcc4	T	C	14: 118,500,841	M1166V	probably benign	Het
Abhd16b	C	T	2: 181,494,190	T295I	probably damaging	Het
Amph	A	G	13: 19,104,298	N319S	possibly damaging	Het
Ankrd27	A	G	7: 35,614,519	D425G	probably damaging	Het
Atg4b	T	C	1: 93,784,887	S316P	probably damaging	Het
Brd4	A	G	17: 32,212,947	S649P	probably benign	Het
Bzw1	T	C	1: 58,405,037	S411P	probably damaging	Het
Carmil1	T	C	13: 24,044,232	E987G	probably damaging	Het
Dnah6	T	C	6: 73,044,728	D3537G	probably damaging	Het
Dnpep	A	T	1: 75,315,998	W126R	probably damaging	Het
Efcab2	T	C	1: 178,437,450	V27A	probably benign	Het
Kidins220	C	T	12: 24,994,855	T216I	probably damaging	Het
Lpl	T	A	8: 68,892,605	M87K	probably damaging	Het
Ltn1	A	G	16: 87,380,803	V1646A	probably benign	Het
Madcam1	A	G	10: 79,666,758	T359A	probably benign	Het
Muc5ac	A	G	7: 141,802,948	K1092E	possibly damaging	Het
Nrg2	T	C	18: 36,196,676	E162G	probably benign	Het
Olfr1333	A	T	4: 118,830,091	F117L	probably benign	Het
Olfr474	T	A	7: 107,954,967	S109T	probably benign	Het
Olfr589	A	C	7: 103,155,406	S114A	probably damaging	Het
Pcdhb5	G	T	18: 37,321,583	V339L	probably benign	Het
Plec	A	G	15: 76,192,284	W145R	unknown	Het
Polr3f	A	G	2: 144,536,310	N201D	probably benign	Het
Skint5	T	C	4: 113,804,942		probably null	Het
Slc12a2	A	G	18: 57,937,719	I1048V	probably benign	Het
Sult2a4	A	G	7: 13,989,476	I39T	probably benign	Het
Tenm4	T	C	7: 96,895,407	V2247A	probably damaging	Het
Tg	C	T	15: 66,773,398	R2385C	probably damaging	Het
Tomm70a	G	T	16: 57,121,967	A36S	unknown	Het
Top2b	G	A	14: 16,383,177	R55H	probably damaging	Het
Unc45b	A	G	11: 82,933,888	I629M	possibly damaging	Het
Vmn1r16	T	C	6: 57,323,439	E66G	noncoding transcript	Het
Vmn1r189	C	T	13: 22,102,131	V179I	probably benign	Het
Vmn2r105	T	G	17: 20,228,513	E134A	probably benign	Het
Wdr70	G	A	15: 7,887,370	A522V	probably benign	Het
Zcchc11	A	G	4: 108,512,150	I636V	probably benign	Het
Zfp184	T	A	13: 21,958,825	C234S	probably damaging	Het
Zscan5b	C	T	7: 6,233,947	P232S	possibly damaging	Het

Other mutations in Kctd21

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01358:Kctd21	APN	7	97347374	missense	probably damaging	1.00
R0123:Kctd21	UTSW	7	97348091	missense	probably benign	0.04
R0134:Kctd21	UTSW	7	97348091	missense	probably benign	0.04
R0225:Kctd21	UTSW	7	97348091	missense	probably benign	0.04
R0469:Kctd21	UTSW	7	97347541	missense	probably damaging	1.00
R0510:Kctd21	UTSW	7	97347541	missense	probably damaging	1.00
R0606:Kctd21	UTSW	7	97347601	missense	probably benign	0.01
R1438:Kctd21	UTSW	7	97347497	missense	probably damaging	0.98
R4625:Kctd21	UTSW	7	97347575	missense	probably damaging	1.00
R4626:Kctd21	UTSW	7	97347575	missense	probably damaging	1.00
R4628:Kctd21	UTSW	7	97347575	missense	probably damaging	1.00
R4629:Kctd21	UTSW	7	97347575	missense	probably damaging	1.00
R5348:Kctd21	UTSW	7	97347970	missense	probably benign	0.33
R6075:Kctd21	UTSW	7	97347407	missense	probably damaging	1.00
R6452:Kctd21	UTSW	7	97347662	missense	probably benign	0.04
R6736:Kctd21	UTSW	7	97348084	missense	probably damaging	0.99
R7402:Kctd21	UTSW	7	97347763	missense	possibly damaging	0.84
R7782:Kctd21	UTSW	7	97348090	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