Mutagenetix > Incidental Mutation

Incidental Mutation 'R1701:Kctd1'

189757

Institutional Source

Beutler Lab

Gene Symbol

Kctd1

Ensembl Gene

ENSMUSG00000036225

Gene Name

potassium channel tetramerisation domain containing 1

Synonyms

4933402K10Rik

MMRRC Submission

039734-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1701 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

15101742-15284503 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 15102617 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Leucine at position 259 (I259L)

Ref Sequence

ENSEMBL: ENSMUSP00000025992 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

possibly damaging
Transcript: ENSMUST00000025992
AA Change: I259L

PolyPhen 2 Score 0.949 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000025992
Gene: ENSMUSG00000036225
AA Change: I259L

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000168989
AA Change: I855L

PolyPhen 2 Score 0.858 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000128070
Gene: ENSMUSG00000036225
AA Change: I855L

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: 98.5%
10x: 96.7%
20x: 93.8%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadacl3	A	G	4: 144,190,142 (GRCm39)	L53P	probably damaging	Het
Acadsb	T	A	7: 131,026,213 (GRCm39)	F19I	probably benign	Het
Aldh3a2	C	T	11: 61,147,598 (GRCm39)	G303S	probably damaging	Het
Anks1b	T	C	10: 89,885,816 (GRCm39)	Y171H	probably damaging	Het
Anxa7	A	T	14: 20,510,229 (GRCm39)	I385N	probably damaging	Het
Astn1	A	T	1: 158,331,877 (GRCm39)	T324S	possibly damaging	Het
Ccdc88a	T	C	11: 29,427,427 (GRCm39)	V235A	possibly damaging	Het
Crhr2	T	C	6: 55,076,255 (GRCm39)	K258R	probably damaging	Het
Ctnnd1	T	C	2: 84,439,335 (GRCm39)	E786G	probably damaging	Het
Ctnnd2	G	A	15: 30,922,127 (GRCm39)	D918N	probably damaging	Het
Dnah9	A	G	11: 65,802,750 (GRCm39)	S200P	probably damaging	Het
Dot1l	T	C	10: 80,626,576 (GRCm39)	S1266P	possibly damaging	Het
Efemp1	A	G	11: 28,871,750 (GRCm39)	T422A	possibly damaging	Het
Fam135b	T	C	15: 71,331,578 (GRCm39)	H1137R	probably damaging	Het
Flot2	C	T	11: 77,940,373 (GRCm39)	S40L	possibly damaging	Het
Fras1	G	A	5: 96,748,643 (GRCm39)	S706N	probably benign	Het
Gbf1	T	C	19: 46,250,114 (GRCm39)	L357P	probably damaging	Het
Gpatch2l	A	G	12: 86,335,726 (GRCm39)	S476G	probably benign	Het
Hbb-bh2	T	C	7: 103,489,450 (GRCm39)	T34A	probably benign	Het
Ints8	A	G	4: 11,231,656 (GRCm39)	L443P	probably damaging	Het
Intu	T	A	3: 40,618,694 (GRCm39)	D233E	probably damaging	Het
Itprid2	A	G	2: 79,466,394 (GRCm39)	K75E	probably damaging	Het
Lama5	A	G	2: 179,863,162 (GRCm39)	C108R	probably damaging	Het
Lgals3bp	T	C	11: 118,284,781 (GRCm39)	Y266C	probably damaging	Het
Lrig2	T	C	3: 104,401,993 (GRCm39)	I111V	probably benign	Het
Mtcl2	T	C	2: 156,872,539 (GRCm39)	N936S	probably damaging	Het
Myh8	G	T	11: 67,170,964 (GRCm39)	C125F	probably damaging	Het
Or2d3c	C	A	7: 106,526,129 (GRCm39)	C179F	probably damaging	Het
Or2h2	C	T	17: 37,396,623 (GRCm39)	V145M	probably benign	Het
Or51a10	T	C	7: 103,699,402 (GRCm39)	E53G	possibly damaging	Het
Or5ac21	T	C	16: 59,123,651 (GRCm39)	I46T	probably benign	Het
Or5p76	T	G	7: 108,122,731 (GRCm39)	Q142P	probably benign	Het
Or5w16	T	A	2: 87,576,894 (GRCm39)	M118K	probably damaging	Het
Or6c202	T	C	10: 128,995,974 (GRCm39)	Q293R	probably damaging	Het
Or8g4	A	T	9: 39,662,365 (GRCm39)	I228F	probably damaging	Het
Pate8	A	G	9: 36,493,114 (GRCm39)		probably benign	Het
Phc2	C	T	4: 128,645,400 (GRCm39)	P836S	probably damaging	Het
Pla2g7	T	C	17: 43,911,415 (GRCm39)	F189S	probably damaging	Het
Ptprk	A	G	10: 28,342,054 (GRCm39)	D487G	probably damaging	Het
Ptpro	T	A	6: 137,420,592 (GRCm39)	V1007D	probably damaging	Het
Rad54l2	A	G	9: 106,577,692 (GRCm39)		probably null	Het
Robo4	G	T	9: 37,314,739 (GRCm39)	V198L	probably benign	Het
Selenbp1	C	A	3: 94,844,701 (GRCm39)	H119Q	probably damaging	Het
Slc25a13	T	C	6: 6,152,525 (GRCm39)		probably null	Het
Slc35f5	A	G	1: 125,498,330 (GRCm39)	E176G	possibly damaging	Het
Sphkap	G	A	1: 83,255,236 (GRCm39)	R838*	probably null	Het
Tenm4	G	A	7: 96,552,096 (GRCm39)	V2512M	probably damaging	Het
Tmc8	A	G	11: 117,682,188 (GRCm39)		probably null	Het
Trim30d	C	T	7: 104,133,389 (GRCm39)	W21*	probably null	Het
Ube3c	G	A	5: 29,806,200 (GRCm39)	V281I	probably benign	Het
Usp17ld	T	C	7: 102,899,783 (GRCm39)	K383R	probably benign	Het
Vmn1r172	A	T	7: 23,359,529 (GRCm39)	Y138F	probably damaging	Het
Vmn1r180	T	C	7: 23,652,395 (GRCm39)	V186A	possibly damaging	Het
Vmn2r25	T	A	6: 123,828,754 (GRCm39)		probably null	Het
Vmn2r61	T	C	7: 41,949,935 (GRCm39)	F785S	probably damaging	Het
Zfp141	T	A	7: 42,125,470 (GRCm39)	Y334F	probably benign	Het
Zfp609	T	C	9: 65,638,282 (GRCm39)	I317V	probably benign	Het
Zfp879	A	G	11: 50,724,060 (GRCm39)	I259T	possibly damaging	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
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
R3010:Kctd1	UTSW	18	15,107,143 (GRCm39)	missense	probably damaging	1.00
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'- AAGCAGTAAGGAGACTGTCCTCCC -3'
(R):5'- TCTATGCCTTGCCCCTAAGCAGAC -3'

Sequencing Primer
(F):5'- ctctctctctctctctctctctc -3'
(R):5'- CCTAAGCAGACGCCTATTTTG -3'

Posted On

2014-05-14