Mutagenetix > Incidental Mutations

Incidental Mutation 'R1270:Kctd20'

151290

Institutional Source

Beutler Lab

Gene Symbol

Kctd20

Ensembl Gene

ENSMUSG00000005936

Gene Name

potassium channel tetramerisation domain containing 20

Synonyms

2410004N11Rik, D17Ertd562e

MMRRC Submission

039336-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.209) question?

Stock #

R1270 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

28951950-28969549 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 28966931 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 416 (D416G)

Ref Sequence

ENSEMBL: ENSMUSP00000131435 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000009138] [ENSMUST00000057174] [ENSMUST00000117672] [ENSMUST00000118762] [ENSMUST00000122163] [ENSMUST00000153462] [ENSMUST00000153831] [ENSMUST00000168507]

AlphaFold

Q8CDD8

Predicted Effect

probably benign
Transcript: ENSMUST00000009138

SMART Domains

Protein: ENSMUSP00000009138
Gene: ENSMUSG00000024006

Domain	Start	End	E-Value	Type
Blast:S_TKc	31	77	1e-9	BLAST
S_TKc	89	382	1.69e-94	SMART
S_TK_X	383	447	1.23e-2	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000057174
AA Change: D416G

PolyPhen 2 Score 0.871 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000062282
Gene: ENSMUSG00000005936
AA Change: D416G

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

possibly damaging
Transcript: ENSMUST00000117672
AA Change: D345G

PolyPhen 2 Score 0.871 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000113740
Gene: ENSMUSG00000005936
AA Change: D345G

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000118762
AA Change: D345G

PolyPhen 2 Score 0.871 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000112890
Gene: ENSMUSG00000005936
AA Change: D345G

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000122163
AA Change: D416G

PolyPhen 2 Score 0.871 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000112957
Gene: ENSMUSG00000005936
AA Change: D416G

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

noncoding transcript
Transcript: ENSMUST00000156732

Predicted Effect

possibly damaging
Transcript: ENSMUST00000168507
AA Change: D416G

PolyPhen 2 Score 0.871 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000131435
Gene: ENSMUSG00000005936
AA Change: D416G

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

Meta Mutation Damage Score

0.0608

Coding Region Coverage

1x: 98.9%
3x: 98.1%
10x: 95.5%
20x: 89.7%

Validation Efficiency

97% (36/37)

Allele List at MGI

Other mutations in this stock

Total: 32 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4932438A13Rik	T	A	3: 36,952,184	H1662Q	probably damaging	Het
Abcc3	C	T	11: 94,357,384	R1129Q	probably damaging	Het
Adam7	T	A	14: 68,527,669	K93M	probably damaging	Het
Aldh1a2	T	G	9: 71,281,706	L301V	probably benign	Het
Alg9	A	G	9: 50,787,572		probably benign	Het
Aspg	C	T	12: 112,116,447	T187I	probably damaging	Het
C4a	A	G	17: 34,814,528		noncoding transcript	Het
Cdh2	T	G	18: 16,627,557		probably benign	Het
Ceacam1	T	C	7: 25,466,314		probably null	Het
Cep250	G	A	2: 155,990,681	V1509I	probably benign	Het
D130043K22Rik	T	C	13: 24,857,338	S248P	probably benign	Het
Dgkd	A	T	1: 87,934,125	M801L	probably damaging	Het
E330021D16Rik	A	T	6: 136,401,787	I15N	probably damaging	Het
Edc4	A	G	8: 105,891,264	E1152G	possibly damaging	Het
Enkd1	A	G	8: 105,703,901	I334T	probably damaging	Het
Gli3	C	T	13: 15,723,744	A803V	probably benign	Het
Glrx3	A	G	7: 137,453,414	N95S	probably benign	Het
Ints2	C	T	11: 86,233,085	G626R	probably damaging	Het
Kank2	A	T	9: 21,772,760	N724K	probably damaging	Het
Lmtk3	A	G	7: 45,793,828	E645G	probably damaging	Het
Mrgpra9	A	T	7: 47,252,783		probably null	Het
Muc1	T	A	3: 89,232,107	Y605N	probably damaging	Het
Olfr1256	C	T	2: 89,835,322	V208M	possibly damaging	Het
Olfr146	A	C	9: 39,019,247	I98R	possibly damaging	Het
Prx	T	A	7: 27,518,930	I952N	probably damaging	Het
Shf	G	A	2: 122,368,682	P51S	probably damaging	Het
Skint5	A	T	4: 113,942,659	Y90*	probably null	Het
Swt1	A	T	1: 151,384,391	N752K	probably benign	Het
Taar1	T	C	10: 23,920,533	V43A	probably damaging	Het
Tenm2	T	C	11: 36,041,659	N1702D	probably damaging	Het
Tff2	C	T	17: 31,144,169		probably null	Het
Trim2	G	A	3: 84,167,677	A686V	probably damaging	Het

Other mutations in Kctd20

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02218:Kctd20	APN	17	28957903	missense	probably benign	0.36
IGL02253:Kctd20	APN	17	28961486	missense	probably benign	0.12
R0839:Kctd20	UTSW	17	28957898	start codon destroyed	possibly damaging	0.79
R1768:Kctd20	UTSW	17	28962850	missense	probably damaging	1.00
R1768:Kctd20	UTSW	17	28966781	missense	probably damaging	1.00
R4797:Kctd20	UTSW	17	28966792	missense	probably damaging	1.00
R5990:Kctd20	UTSW	17	28966910	missense	probably benign	0.01
R6642:Kctd20	UTSW	17	28961666	missense	probably damaging	0.98
R6799:Kctd20	UTSW	17	28963377	splice site	probably null
R6938:Kctd20	UTSW	17	28961581	missense	probably benign
R7393:Kctd20	UTSW	17	28963338	missense	probably damaging	1.00
R7862:Kctd20	UTSW	17	28962875	missense	probably damaging	1.00
R8050:Kctd20	UTSW	17	28952758	critical splice donor site	probably null
R8725:Kctd20	UTSW	17	28965051	nonsense	probably null
R8727:Kctd20	UTSW	17	28965051	nonsense	probably null
R9171:Kctd20	UTSW	17	28966892	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TCATCTACAATTATGTGCAGCGCCC -3'
(R):5'- GCCGCCTAATTACCAGAGAGCTTC -3'

Sequencing Primer
(F):5'- AGCGCCCTTTTATCCAGATG -3'
(R):5'- GAGAGCTTCTTCACCCAGC -3'

Posted On

2014-01-29