Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02218:Kctd20'

285016

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Kctd20

Ensembl Gene

ENSMUSG00000005936

Gene Name

potassium channel tetramerisation domain containing 20

Synonyms

D17Ertd562e, 2410004N11Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.248) question?

Stock #

IGL02218

Quality Score

Status

Chromosome

Chromosomal Location

29171420-29188523 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 29176877 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 2 (N2K)

Ref Sequence

ENSEMBL: ENSMUSP00000131435 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000057174] [ENSMUST00000117672] [ENSMUST00000118762] [ENSMUST00000122163] [ENSMUST00000153462] [ENSMUST00000153831] [ENSMUST00000168507]

AlphaFold

Q8CDD8

Predicted Effect

probably benign
Transcript: ENSMUST00000057174
AA Change: N2K

PolyPhen 2 Score 0.359 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000062282
Gene: ENSMUSG00000005936
AA Change: N2K

Domain	Start	End	E-Value	Type
low complexity region	33	44	N/A	INTRINSIC
low complexity region	101	110	N/A	INTRINSIC
BTB	117	222	1.77e-7	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000117672

SMART Domains

Protein: ENSMUSP00000113740
Gene: ENSMUSG00000005936

Domain	Start	End	E-Value	Type
low complexity region	30	39	N/A	INTRINSIC
BTB	46	151	1.77e-7	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000118762

SMART Domains

Protein: ENSMUSP00000112890
Gene: ENSMUSG00000005936

Domain	Start	End	E-Value	Type
low complexity region	30	39	N/A	INTRINSIC
BTB	46	151	1.77e-7	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000122163
AA Change: N2K

PolyPhen 2 Score 0.359 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000112957
Gene: ENSMUSG00000005936
AA Change: N2K

Domain	Start	End	E-Value	Type
low complexity region	33	44	N/A	INTRINSIC
low complexity region	101	110	N/A	INTRINSIC
BTB	117	222	1.77e-7	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000150858

Predicted Effect

probably benign
Transcript: ENSMUST00000153462

SMART Domains

Protein: ENSMUSP00000120301
Gene: ENSMUSG00000005936

Domain	Start	End	E-Value	Type
low complexity region	30	39	N/A	INTRINSIC
BTB	46	151	1.77e-7	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000153831

SMART Domains

Protein: ENSMUSP00000122690
Gene: ENSMUSG00000005936

Domain	Start	End	E-Value	Type
low complexity region	30	39	N/A	INTRINSIC
BTB	46	151	1.77e-7	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000168507
AA Change: N2K

PolyPhen 2 Score 0.359 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000131435
Gene: ENSMUSG00000005936
AA Change: N2K

Domain	Start	End	E-Value	Type
low complexity region	33	44	N/A	INTRINSIC
low complexity region	101	110	N/A	INTRINSIC
BTB	117	222	1.77e-7	SMART

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
5730409E04Rik	A	G	4: 126,505,838 (GRCm39)	D122G	probably benign	Het
Abcc8	T	C	7: 45,769,860 (GRCm39)	D885G	probably benign	Het
Abcf1	T	C	17: 36,269,230 (GRCm39)	K676R	probably benign	Het
Acsf2	A	G	11: 94,492,589 (GRCm39)	V3A	probably benign	Het
Apba2	C	T	7: 64,345,425 (GRCm39)	T205I	probably benign	Het
Bricd5	C	A	17: 24,694,296 (GRCm39)	Y171*	probably null	Het
Camk2d	T	G	3: 126,633,802 (GRCm39)	N441K	probably benign	Het
Carm1	T	C	9: 21,480,808 (GRCm39)	V94A	probably damaging	Het
Chd3	C	T	11: 69,242,920 (GRCm39)		probably benign	Het
Cipc	A	G	12: 87,008,702 (GRCm39)	N166S	probably damaging	Het
Cln5	A	C	14: 103,313,276 (GRCm39)		probably null	Het
Cnbd1	C	A	4: 18,887,739 (GRCm39)	Q258H	probably benign	Het
Cyp8b1	A	G	9: 121,744,183 (GRCm39)	L383P	probably damaging	Het
Dnai4	A	G	4: 102,953,971 (GRCm39)	V76A	probably damaging	Het
Dok3	A	G	13: 55,671,599 (GRCm39)	L324P	probably damaging	Het
Eftud2	A	T	11: 102,761,039 (GRCm39)	F102Y	possibly damaging	Het
Ewsr1	G	A	11: 5,020,668 (GRCm39)	P551S	unknown	Het
Fam193a	G	T	5: 34,600,932 (GRCm39)	V346L	possibly damaging	Het
Golim4	A	G	3: 75,785,361 (GRCm39)	S677P	probably damaging	Het
Gpr149	A	G	3: 62,437,952 (GRCm39)		probably benign	Het
Ins1	A	T	19: 52,253,121 (GRCm39)	K20N	probably benign	Het
Itpr2	A	T	6: 146,141,760 (GRCm39)		probably benign	Het
Jup	G	A	11: 100,272,665 (GRCm39)	T249I	probably damaging	Het
Kif15	A	G	9: 122,824,892 (GRCm39)		probably benign	Het
Klrb1-ps1	T	C	6: 129,106,269 (GRCm39)		noncoding transcript	Het
Krtap29-1	T	C	11: 99,869,884 (GRCm39)		probably null	Het
Lamb3	A	T	1: 193,010,941 (GRCm39)		probably null	Het
Large1	A	G	8: 73,638,750 (GRCm39)	W276R	probably damaging	Het
Lrp1b	T	C	2: 41,185,684 (GRCm39)	N603D	probably benign	Het
Lrrc37a	A	G	11: 103,391,207 (GRCm39)	V1406A	probably benign	Het
Lrrc74a	A	G	12: 86,795,822 (GRCm39)	D265G	probably benign	Het
Lrrfip2	G	A	9: 111,048,793 (GRCm39)	C250Y	probably benign	Het
Mbtd1	A	G	11: 93,822,629 (GRCm39)		probably benign	Het
Msr1	A	G	8: 40,042,357 (GRCm39)	V406A	possibly damaging	Het
Mtfr1l	C	T	4: 134,256,491 (GRCm39)	D225N	probably benign	Het
Nckap1l	T	A	15: 103,391,954 (GRCm39)	S796R	possibly damaging	Het
Oaf	T	A	9: 43,136,219 (GRCm39)	H119L	probably benign	Het
Or4d1	A	T	11: 87,804,889 (GRCm39)	M281K	probably damaging	Het
Pik3c2g	A	T	6: 139,806,081 (GRCm39)	H516L	probably damaging	Het
Pkd1l3	A	T	8: 110,387,434 (GRCm39)	I1793F	possibly damaging	Het
Ptpra	A	G	2: 130,394,255 (GRCm39)		probably benign	Het
Slc25a27	C	T	17: 43,974,964 (GRCm39)		probably null	Het
Slc2a2	A	T	3: 28,752,174 (GRCm39)	E3D	possibly damaging	Het
Slc35f5	T	C	1: 125,512,292 (GRCm39)	F14S	probably damaging	Het
Sspn	T	C	6: 145,907,112 (GRCm39)	V105A	probably damaging	Het
Syvn1	T	C	19: 6,100,229 (GRCm39)	I263T	probably damaging	Het
Tek	A	C	4: 94,743,574 (GRCm39)	D863A	probably damaging	Het
Tent5b	C	T	4: 133,213,462 (GRCm39)	A111V	probably damaging	Het
Tm9sf4	G	T	2: 153,046,536 (GRCm39)	V592F	probably benign	Het
Tmem259	A	G	10: 79,814,151 (GRCm39)	M354T	possibly damaging	Het
Ttf2	T	C	3: 100,871,409 (GRCm39)	E84G	possibly damaging	Het
Ttyh3	T	C	5: 140,612,246 (GRCm39)	E487G	probably damaging	Het
Ubtf	C	A	11: 102,197,526 (GRCm39)	E709*	probably null	Het
Vmn1r119	T	C	7: 20,745,561 (GRCm39)	R274G	probably benign	Het
Zfp804a	A	G	2: 82,089,546 (GRCm39)	Q1125R	probably damaging	Het

Other mutations in Kctd20

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02253:Kctd20	APN	17	29,180,460 (GRCm39)	missense	probably benign	0.12
R0839:Kctd20	UTSW	17	29,176,872 (GRCm39)	start codon destroyed	possibly damaging	0.79
R1270:Kctd20	UTSW	17	29,185,905 (GRCm39)	missense	possibly damaging	0.87
R1768:Kctd20	UTSW	17	29,185,755 (GRCm39)	missense	probably damaging	1.00
R1768:Kctd20	UTSW	17	29,181,824 (GRCm39)	missense	probably damaging	1.00
R4797:Kctd20	UTSW	17	29,185,766 (GRCm39)	missense	probably damaging	1.00
R5990:Kctd20	UTSW	17	29,185,884 (GRCm39)	missense	probably benign	0.01
R6642:Kctd20	UTSW	17	29,180,640 (GRCm39)	missense	probably damaging	0.98
R6799:Kctd20	UTSW	17	29,182,351 (GRCm39)	splice site	probably null
R6938:Kctd20	UTSW	17	29,180,555 (GRCm39)	missense	probably benign
R7393:Kctd20	UTSW	17	29,182,312 (GRCm39)	missense	probably damaging	1.00
R7862:Kctd20	UTSW	17	29,181,849 (GRCm39)	missense	probably damaging	1.00
R8050:Kctd20	UTSW	17	29,171,732 (GRCm39)	critical splice donor site	probably null
R8725:Kctd20	UTSW	17	29,184,025 (GRCm39)	nonsense	probably null
R8727:Kctd20	UTSW	17	29,184,025 (GRCm39)	nonsense	probably null
R9171:Kctd20	UTSW	17	29,185,866 (GRCm39)	missense	probably damaging	1.00
R9602:Kctd20	UTSW	17	29,180,442 (GRCm39)	missense	probably benign	0.02

Posted On

2015-04-16