Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02253:Kctd20'

286492

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 #

IGL02253

Quality Score

Status

Chromosome

Chromosomal Location

29171420-29188523 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 29180460 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 7 (N7S)

Ref Sequence

ENSEMBL: ENSMUSP00000112890 (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: N78S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000062282
Gene: ENSMUSG00000005936
AA Change: N78S

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
AA Change: N7S

PolyPhen 2 Score 0.116 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000113740
Gene: ENSMUSG00000005936
AA Change: N7S

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
AA Change: N7S

PolyPhen 2 Score 0.116 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000112890
Gene: ENSMUSG00000005936
AA Change: N7S

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: N78S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000112957
Gene: ENSMUSG00000005936
AA Change: N78S

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
AA Change: N7S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000120301
Gene: ENSMUSG00000005936
AA Change: N7S

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
AA Change: N7S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000122690
Gene: ENSMUSG00000005936
AA Change: N7S

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: N78S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000131435
Gene: ENSMUSG00000005936
AA Change: N78S

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: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca14	A	G	7: 119,807,182 (GRCm39)	E76G	probably benign	Het
Adamtsl2	A	T	2: 26,988,709 (GRCm39)	T587S	possibly damaging	Het
Adgre4	T	A	17: 56,067,573 (GRCm39)	M9K	probably benign	Het
Aff2	T	A	X: 68,874,397 (GRCm39)	V447E	probably benign	Het
Arhgef10l	G	T	4: 140,271,595 (GRCm39)	S425*	probably null	Het
Cabcoco1	T	C	10: 68,272,107 (GRCm39)		probably null	Het
Calcr	T	A	6: 3,707,523 (GRCm39)	H259L	probably benign	Het
Cdc42bpa	T	A	1: 179,859,161 (GRCm39)		probably benign	Het
Cntnap5b	C	T	1: 100,091,936 (GRCm39)	H540Y	possibly damaging	Het
Cyp2a22	A	T	7: 26,637,662 (GRCm39)		probably benign	Het
Ddx3x	T	C	X: 13,151,207 (GRCm39)		probably benign	Het
Dnajc11	T	A	4: 152,034,976 (GRCm39)	Y28*	probably null	Het
Dock11	T	C	X: 35,304,781 (GRCm39)	F1472S	probably damaging	Het
Dusp18	T	C	11: 3,847,576 (GRCm39)	*189Q	probably null	Het
Dzip3	A	T	16: 48,765,287 (GRCm39)	Y476N	probably benign	Het
Efr3b	C	T	12: 4,033,391 (GRCm39)	V139I	probably benign	Het
Evc2	T	A	5: 37,535,771 (GRCm39)		probably benign	Het
Fam151b	A	T	13: 92,614,435 (GRCm39)	Y18N	probably damaging	Het
Gk5	T	C	9: 96,019,824 (GRCm39)	F120S	probably damaging	Het
Itprid2	A	G	2: 79,490,788 (GRCm39)	T969A	probably damaging	Het
Kcna3	T	C	3: 106,944,727 (GRCm39)	L330P	probably damaging	Het
Kmt2b	G	T	7: 30,281,152 (GRCm39)	R1276S	probably damaging	Het
Kmt2d	C	T	15: 98,756,056 (GRCm39)		probably benign	Het
L2hgdh	G	A	12: 69,752,534 (GRCm39)		probably benign	Het
Lifr	T	G	15: 7,220,085 (GRCm39)	V905G	probably damaging	Het
Mcm3ap	T	A	10: 76,305,899 (GRCm39)	V4E	probably benign	Het
Nrip3	A	C	7: 109,360,951 (GRCm39)		probably null	Het
Nsun2	T	G	13: 69,767,658 (GRCm39)	V204G	possibly damaging	Het
Nup54	A	G	5: 92,565,310 (GRCm39)		probably null	Het
Or5p69	T	A	7: 107,967,261 (GRCm39)	V188E	possibly damaging	Het
Or8c16	T	A	9: 38,131,031 (GRCm39)	M304K	probably benign	Het
Pdcl3	A	G	1: 39,034,011 (GRCm39)	D51G	probably benign	Het
Pdlim1	T	C	19: 40,218,974 (GRCm39)	E219G	probably damaging	Het
Pld4	A	C	12: 112,733,141 (GRCm39)	K239T	probably damaging	Het
Rgsl1	T	C	1: 153,669,513 (GRCm39)	Y291C	probably damaging	Het
Rnf213	C	A	11: 119,331,476 (GRCm39)	H2228Q	probably benign	Het
Rnf222	T	A	11: 68,783,862 (GRCm39)	I143N	probably damaging	Het
Sirt7	A	G	11: 120,511,693 (GRCm39)	I13T	probably benign	Het
Slfn10-ps	A	G	11: 82,919,890 (GRCm39)		noncoding transcript	Het
Slx4ip	T	C	2: 136,842,195 (GRCm39)		probably null	Het
Spata18	G	T	5: 73,825,939 (GRCm39)	S164I	possibly damaging	Het
Spmip2	C	A	3: 79,356,741 (GRCm39)		probably benign	Het
Spmip2	C	A	3: 79,356,742 (GRCm39)		probably benign	Het
Stk26	T	C	X: 49,975,565 (GRCm39)	L212P	probably damaging	Het
Tmsb15a	T	C	X: 134,620,451 (GRCm39)	I56V	probably benign	Het
Tnrc6b	T	A	15: 80,760,742 (GRCm39)	S150T	probably damaging	Het
Tubb3	T	C	8: 124,147,559 (GRCm39)	M164T	probably benign	Het
Zfp516	A	G	18: 83,012,622 (GRCm39)	D1125G	probably benign	Het
Zyg11a	A	C	4: 108,040,892 (GRCm39)	V685G	probably null	Het

Other mutations in Kctd20

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02218:Kctd20	APN	17	29,176,877 (GRCm39)	missense	probably benign	0.36
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