Mutagenetix > Incidental Mutations

Incidental Mutation 'R6767:Kctd1'

532017

Institutional Source

Beutler Lab

Gene Symbol

Kctd1

Ensembl Gene

ENSMUSG00000036225

Gene Name

potassium channel tetramerisation domain containing 1

Synonyms

MMRRC Submission

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6767 (G1)

Quality Score

151.008

Status

Validated

Chromosome

Chromosomal Location

14968685-15151446 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 15062175 bp

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 464 (T464A)

Ref Sequence

ENSEMBL: ENSMUSP00000128070 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000025992

SMART Domains

Protein: ENSMUSP00000025992
Gene: ENSMUSG00000036225

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000168989
AA Change: T464A

PolyPhen 2 Score 0.528 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000128070
Gene: ENSMUSG00000036225
AA Change: T464A

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: 99.9%
3x: 99.7%
10x: 98.6%
20x: 95.9%

Validation Efficiency

100% (67/67)

Allele List at MGI

Other mutations in this stock

Total: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ak7	A	G	12: 105,766,607	N537D	probably damaging	Het
Akt3	A	T	1: 177,050,190	Y337*	probably null	Het
Atp8a2	A	G	14: 60,046,722	F47S	probably damaging	Het
Cadps	T	A	14: 12,550,888	T449S	probably damaging	Het
Ccdc33	C	G	9: 58,033,244	Q489H	possibly damaging	Het
Cd163	T	G	6: 124,304,779	S14A	possibly damaging	Het
Cemip	G	A	7: 83,998,624	L83F	probably damaging	Het
Chrd	C	T	16: 20,738,626	P665L	probably benign	Het
Cib4	T	A	5: 30,534,245	H44L	probably benign	Het
Clic1	T	A	17: 35,053,053	L99Q	probably benign	Het
Cnst	C	T	1: 179,609,954	T361I	possibly damaging	Het
Dnah6	C	A	6: 73,133,608	V1613L	probably benign	Het
Dnajb8	T	C	6: 88,222,652	S57P	probably damaging	Het
Dyrk3	T	C	1: 131,129,590	H282R	probably damaging	Het
Fasn	T	C	11: 120,817,487	I651V	possibly damaging	Het
Gas6	A	G	8: 13,465,784	S663P	probably damaging	Het
Gbp8	T	C	5: 105,018,612	M284V	probably benign	Het
Gm12695	T	C	4: 96,762,696		probably null	Het
Gm17359	A	T	3: 79,430,023	D46V	probably benign	Het
Gm5346	G	A	8: 43,626,914	T91I	probably damaging	Het
Gm6034	T	A	17: 36,043,131	M1K	probably null	Het
Gm9376	A	G	14: 118,267,236	T27A	unknown	Het
Grid2	A	G	6: 63,931,015	D213G	probably benign	Het
Gsdma3	A	T	11: 98,637,884	D388V	possibly damaging	Het
Hdac9	T	A	12: 34,287,529	H716L	probably damaging	Het
Hist1h4b	T	A	13: 23,757,022	M1K	probably null	Het
Hivep1	T	C	13: 42,154,727	S148P	probably damaging	Het
Kera	A	G	10: 97,609,172	D131G	possibly damaging	Het
Kif2c	C	T	4: 117,178,188	R21Q	probably benign	Het
Luc7l3	G	T	11: 94,292,953	D453E	probably damaging	Het
Mrpl9	A	G	3: 94,450,221		probably benign	Het
Mtss1	T	C	15: 58,953,581	S257G	probably benign	Het
N4bp2	T	C	5: 65,817,187	F1467L	probably damaging	Het
Naa25	T	C	5: 121,439,865	V945A	probably damaging	Het
Nrg1	T	C	8: 31,917,895	I103M	probably damaging	Het
Olfr1369-ps1	C	T	13: 21,116,057	R122C	probably benign	Het
Orm3	C	T	4: 63,356,294	T32I	probably damaging	Het
Pi4ka	A	G	16: 17,376,982	L184P	possibly damaging	Het
Plch1	A	T	3: 63,755,344	M246K	probably damaging	Het
Pld4	A	C	12: 112,764,115	D144A	possibly damaging	Het
Prelp	C	A	1: 133,912,710	V345L	probably benign	Het
Rnf121	A	G	7: 102,023,412	F238L	probably damaging	Het
Rnf40	A	G	7: 127,596,585	K667R	possibly damaging	Het
Scgb1b12	A	T	7: 32,334,495	N60I	probably damaging	Het
Serpina3n	T	G	12: 104,409,062	V131G	probably benign	Het
Slc22a21	T	C	11: 53,979,502	Y119C	probably damaging	Het
Slc22a28	A	G	19: 8,117,045	F204S	probably damaging	Het
Smc6	T	A	12: 11,271,820	D29E	possibly damaging	Het
Smgc	T	A	15: 91,841,398	F40Y	possibly damaging	Het
Sorcs3	G	T	19: 48,713,571	L630F	probably damaging	Het
Sphk1	A	G	11: 116,536,156	K306E	possibly damaging	Het
Spsb1	C	T	4: 149,906,844	G89D	probably damaging	Het
Stat4	G	T	1: 52,076,583	M227I	probably benign	Het
Syngr4	A	G	7: 45,887,491	V116A	possibly damaging	Het
Tacc1	T	C	8: 25,240,800	M1V	probably null	Het
Tcf7l1	T	G	6: 72,631,292	K355Q	probably damaging	Het
Tmem192	T	C	8: 64,964,236	S36P	probably damaging	Het
Top3a	G	T	11: 60,750,753	N368K	possibly damaging	Het
Tpk1	T	A	6: 43,346,793	I241F	possibly damaging	Het
Trappc10	A	G	10: 78,193,511	I1064T	possibly damaging	Het
Vmn1r18	T	A	6: 57,390,221	K116M	probably damaging	Het
Vmn2r40	A	T	7: 8,920,140	H407Q	unknown	Het
Vmn2r91	T	A	17: 18,107,545	L467H	probably damaging	Het
Wdr59	G	T	8: 111,476,101	S603R	probably damaging	Het
Wwc2	A	G	8: 47,900,791	Y103H	possibly damaging	Het
Zfp324	A	C	7: 12,970,600	K74N	probably null	Het
Zfyve16	A	G	13: 92,508,199	L1165P	probably damaging	Het

Other mutations in Kctd1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01318:Kctd1	APN	18	15062690	missense	possibly damaging	0.51
IGL01402:Kctd1	APN	18	14969553	missense	probably damaging	0.98
IGL01404:Kctd1	APN	18	14969553	missense	probably damaging	0.98
IGL01755:Kctd1	APN	18	15062637	missense	possibly damaging	0.86
IGL02606:Kctd1	APN	18	15062880	missense	possibly damaging	0.73
IGL02725:Kctd1	APN	18	14969610	missense	possibly damaging	0.67
IGL02946:Kctd1	APN	18	14973979	critical splice donor site	probably null
R0128:Kctd1	UTSW	18	14974180	missense	probably benign	0.00
R0598:Kctd1	UTSW	18	15007765	missense	probably damaging	1.00
R1398:Kctd1	UTSW	18	15062597	missense	possibly damaging	0.85
R1669:Kctd1	UTSW	18	15062460	missense	possibly damaging	0.71
R1701:Kctd1	UTSW	18	14969560	missense	possibly damaging	0.95
R1745:Kctd1	UTSW	18	15063206	intron	probably benign
R1779:Kctd1	UTSW	18	15061782	missense	probably benign	0.01
R2083:Kctd1	UTSW	18	14974055	missense	possibly damaging	0.89
R2389:Kctd1	UTSW	18	15062211	missense	possibly damaging	0.73
R3010:Kctd1	UTSW	18	14974086	missense	probably damaging	1.00
R4576:Kctd1	UTSW	18	15007700	missense	probably damaging	1.00
R4673:Kctd1	UTSW	18	15063227	intron	probably benign
R4884:Kctd1	UTSW	18	14974254	missense	probably damaging	1.00
R4961:Kctd1	UTSW	18	15062523	missense	probably damaging	0.97
R5169:Kctd1	UTSW	18	15062765	missense	possibly damaging	0.72
R5398:Kctd1	UTSW	18	15062265	missense	possibly damaging	0.86
R5695:Kctd1	UTSW	18	15063516	intron	probably benign
R5893:Kctd1	UTSW	18	14969688	missense	possibly damaging	0.93
R6175:Kctd1	UTSW	18	14969631	nonsense	probably null
R6852:Kctd1	UTSW	18	14986344	missense	possibly damaging	0.72
R6889:Kctd1	UTSW	18	14973988	missense	probably damaging	1.00
R7189:Kctd1	UTSW	18	15062643	missense	possibly damaging	0.71
R7228:Kctd1	UTSW	18	15062412	missense	possibly damaging	0.95
R7688:Kctd1	UTSW	18	14974198	missense	probably benign	0.03
Z1176:Kctd1	UTSW	18	15063125	missense	unknown

Predicted Primers

PCR Primer
(F):5'- ACACTGACTCGTACAGCGTG -3'
(R):5'- AGCGCAATCCCCTCTGTAAG -3'

Sequencing Primer
(F):5'- GCCTCGGACTTCACGTC -3'
(R):5'- AAGGCGTTTTTCCAGCGGC -3'

Posted On

2018-08-29