Mutagenetix > Incidental Mutation

Incidental Mutation 'R3010:Kctd1'

257489

Institutional Source

Beutler Lab

Gene Symbol

Kctd1

Ensembl Gene

ENSMUSG00000036225

Gene Name

potassium channel tetramerisation domain containing 1

Synonyms

4933402K10Rik

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R3010 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

15101742-15284503 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 15107143 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 178 (E178G)

Ref Sequence

ENSEMBL: ENSMUSP00000025992 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000025992] [ENSMUST00000168989]

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000025992
AA Change: E178G

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

SMART Domains

Protein: ENSMUSP00000025992
Gene: ENSMUSG00000036225
AA Change: E178G

Domain	Start	End	E-Value	Type
BTB	38	140	5e-7	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000168989
AA Change: E774G

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000128070
Gene: ENSMUSG00000036225
AA Change: E774G

Domain	Start	End	E-Value	Type
low complexity region	14	44	N/A	INTRINSIC
low complexity region	52	62	N/A	INTRINSIC
low complexity region	70	101	N/A	INTRINSIC
low complexity region	124	145	N/A	INTRINSIC
low complexity region	217	234	N/A	INTRINSIC
Pfam:DUF3504	278	435	2.6e-32	PFAM
low complexity region	482	503	N/A	INTRINSIC
low complexity region	559	567	N/A	INTRINSIC
BTB	634	736	5e-7	SMART

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 94.7%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 16 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Armc8	T	C	9: 99,369,966 (GRCm39)	E591G	probably benign	Het
Cers5	A	G	15: 99,670,598 (GRCm39)		probably benign	Het
Cgrrf1	T	C	14: 47,091,223 (GRCm39)	V249A	probably benign	Het
Mpp7	G	A	18: 7,461,678 (GRCm39)	P65L	possibly damaging	Het
Mx2	T	C	16: 97,347,999 (GRCm39)	V208A	possibly damaging	Het
Pacs2	T	C	12: 113,024,700 (GRCm39)	S427P	probably benign	Het
Pdzrn4	A	G	15: 92,667,692 (GRCm39)	I615V	probably benign	Het
Ptpn1	C	A	2: 167,816,742 (GRCm39)	Q266K	probably damaging	Het
Snx18	G	A	13: 113,753,422 (GRCm39)	Q504*	probably null	Het
Sppl2c	C	T	11: 104,078,141 (GRCm39)	P314S	probably benign	Het
Tbx15	A	G	3: 99,161,209 (GRCm39)		probably benign	Het
Tdrd6	G	A	17: 43,938,933 (GRCm39)	T705I	probably benign	Het
Tex11	C	A	X: 99,977,021 (GRCm39)	A487S	possibly damaging	Het
Vmn2r113	T	C	17: 23,177,105 (GRCm39)	S630P	probably damaging	Het
Zdbf2	T	A	1: 63,342,224 (GRCm39)	V201D	possibly damaging	Het
Zer1	A	G	2: 30,003,297 (GRCm39)	I40T	probably benign	Het

Other mutations in Kctd1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01318:Kctd1	APN	18	15,195,747 (GRCm39)	missense	possibly damaging	0.51
IGL01402:Kctd1	APN	18	15,102,610 (GRCm39)	missense	probably damaging	0.98
IGL01404:Kctd1	APN	18	15,102,610 (GRCm39)	missense	probably damaging	0.98
IGL01755:Kctd1	APN	18	15,195,694 (GRCm39)	missense	possibly damaging	0.86
IGL02606:Kctd1	APN	18	15,195,937 (GRCm39)	missense	possibly damaging	0.73
IGL02725:Kctd1	APN	18	15,102,667 (GRCm39)	missense	possibly damaging	0.67
IGL02946:Kctd1	APN	18	15,107,036 (GRCm39)	critical splice donor site	probably null
R0128:Kctd1	UTSW	18	15,107,237 (GRCm39)	missense	probably benign	0.00
R0598:Kctd1	UTSW	18	15,140,822 (GRCm39)	missense	probably damaging	1.00
R1398:Kctd1	UTSW	18	15,195,654 (GRCm39)	missense	possibly damaging	0.85
R1669:Kctd1	UTSW	18	15,195,517 (GRCm39)	missense	possibly damaging	0.71
R1701:Kctd1	UTSW	18	15,102,617 (GRCm39)	missense	possibly damaging	0.95
R1745:Kctd1	UTSW	18	15,196,263 (GRCm39)	intron	probably benign
R1779:Kctd1	UTSW	18	15,194,839 (GRCm39)	missense	probably benign	0.01
R2083:Kctd1	UTSW	18	15,107,112 (GRCm39)	missense	possibly damaging	0.89
R2389:Kctd1	UTSW	18	15,195,268 (GRCm39)	missense	possibly damaging	0.73
R4576:Kctd1	UTSW	18	15,140,757 (GRCm39)	missense	probably damaging	1.00
R4673:Kctd1	UTSW	18	15,196,284 (GRCm39)	intron	probably benign
R4884:Kctd1	UTSW	18	15,107,311 (GRCm39)	missense	probably damaging	1.00
R4961:Kctd1	UTSW	18	15,195,580 (GRCm39)	missense	probably damaging	0.97
R5169:Kctd1	UTSW	18	15,195,822 (GRCm39)	missense	possibly damaging	0.72
R5398:Kctd1	UTSW	18	15,195,322 (GRCm39)	missense	possibly damaging	0.86
R5695:Kctd1	UTSW	18	15,196,573 (GRCm39)	intron	probably benign
R5893:Kctd1	UTSW	18	15,102,745 (GRCm39)	missense	possibly damaging	0.93
R6175:Kctd1	UTSW	18	15,102,688 (GRCm39)	nonsense	probably null
R6767:Kctd1	UTSW	18	15,195,232 (GRCm39)	missense	possibly damaging	0.53
R6852:Kctd1	UTSW	18	15,119,401 (GRCm39)	missense	possibly damaging	0.72
R6889:Kctd1	UTSW	18	15,107,045 (GRCm39)	missense	probably damaging	1.00
R7189:Kctd1	UTSW	18	15,195,700 (GRCm39)	missense	possibly damaging	0.71
R7228:Kctd1	UTSW	18	15,195,469 (GRCm39)	missense	possibly damaging	0.95
R7688:Kctd1	UTSW	18	15,107,255 (GRCm39)	missense	probably benign	0.03
R8085:Kctd1	UTSW	18	15,140,901 (GRCm39)	missense	possibly damaging	0.95
R8195:Kctd1	UTSW	18	15,196,300 (GRCm39)	missense	unknown
R8496:Kctd1	UTSW	18	15,107,228 (GRCm39)	missense	probably damaging	1.00
R8924:Kctd1	UTSW	18	15,102,745 (GRCm39)	missense	possibly damaging	0.93
R8978:Kctd1	UTSW	18	15,119,491 (GRCm39)	missense
R9094:Kctd1	UTSW	18	15,195,369 (GRCm39)	missense	possibly damaging	0.71
R9255:Kctd1	UTSW	18	15,194,853 (GRCm39)	missense	probably benign	0.00
R9629:Kctd1	UTSW	18	15,196,611 (GRCm39)	missense	unknown
R9680:Kctd1	UTSW	18	15,140,822 (GRCm39)	missense	probably damaging	1.00
Z1176:Kctd1	UTSW	18	15,196,182 (GRCm39)	missense	unknown

Predicted Primers

PCR Primer
(F):5'- GAGGCTGAGAAACCACCTACTC -3'
(R):5'- GGCAAAATACTTTCAACTTCAGCC -3'

Sequencing Primer
(F):5'- ATAGTTCCTCAGCTACCTGGAGG -3'
(R):5'- TCAACTTCAGCCAATGTTGTTG -3'

Posted On

2015-01-11