Mutagenetix > Incidental Mutation

Incidental Mutation 'R1582:Kctd19'

171477

Institutional Source

Beutler Lab

Gene Symbol

Kctd19

Ensembl Gene

ENSMUSG00000051648

Gene Name

potassium channel tetramerisation domain containing 19

Synonyms

4922504H04Rik

MMRRC Submission

039619-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.052) question?

Stock #

R1582 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

105382807-105413502 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 105395460 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Phenylalanine at position 152 (L152F)

Ref Sequence

ENSEMBL: ENSMUSP00000130831 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000063071] [ENSMUST00000167294] [ENSMUST00000168888]

AlphaFold

Q562E2

Predicted Effect

probably damaging
Transcript: ENSMUST00000063071
AA Change: L152F

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

SMART Domains

Protein: ENSMUSP00000050687
Gene: ENSMUSG00000051648
AA Change: L152F

Domain	Start	End	E-Value	Type
Pfam:BTB_2	15	92	1.3e-9	PFAM
internal_repeat_1	173	251	8.34e-9	PROSPERO
internal_repeat_1	429	509	8.34e-9	PROSPERO

Predicted Effect

probably damaging
Transcript: ENSMUST00000167294
AA Change: L152F

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

SMART Domains

Protein: ENSMUSP00000130831
Gene: ENSMUSG00000051648
AA Change: L152F

Domain	Start	End	E-Value	Type
Pfam:BTB_2	15	93	3.9e-10	PFAM
internal_repeat_1	173	251	6.24e-9	PROSPERO
internal_repeat_1	406	486	6.24e-9	PROSPERO

Predicted Effect

silent
Transcript: ENSMUST00000168888

SMART Domains

Protein: ENSMUSP00000131732
Gene: ENSMUSG00000051648

Domain	Start	End	E-Value	Type
Pfam:BTB_2	15	95	4.3e-12	PFAM

Coding Region Coverage

1x: 99.0%
3x: 98.0%
10x: 95.4%
20x: 89.6%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abl1	C	G	2: 31,800,359	A630G	probably damaging	Het
Actr3	A	G	1: 125,405,925	Y202H	probably benign	Het
Adamts19	A	G	18: 58,969,941	N685D	probably damaging	Het
Atl3	A	G	19: 7,516,899	T138A	probably damaging	Het
Bpifa2	T	C	2: 154,013,718	S188P	probably damaging	Het
Bsn	T	C	9: 108,105,092	T3821A	unknown	Het
Dcun1d2	A	G	8: 13,280,926	L68P	probably damaging	Het
Ddhd1	A	T	14: 45,605,109	L630I	probably damaging	Het
Ddx25	T	C	9: 35,545,976	T348A	probably damaging	Het
Dtnb	C	T	12: 3,773,554	T580M	possibly damaging	Het
Dysf	A	G	6: 84,097,767	S561G	probably damaging	Het
Ehbp1l1	A	G	19: 5,721,967	I101T	possibly damaging	Het
Erich3	T	C	3: 154,764,323		probably benign	Het
Fabp3	C	T	4: 130,312,387	T57I	probably benign	Het
Fam135a	T	C	1: 24,029,317	T611A	probably damaging	Het
Gpbp1	T	C	13: 111,436,532		probably null	Het
H2-Oa	A	T	17: 34,094,721	T218S	probably damaging	Het
Kdm5b	T	A	1: 134,624,853	M1189K	probably damaging	Het
Kif13a	A	G	13: 46,793,922	V862A	probably benign	Het
Lct	T	C	1: 128,300,562	T1065A	probably damaging	Het
Mark3	G	A	12: 111,655,310	A697T	probably benign	Het
Mosmo	A	G	7: 120,730,505	I116M	possibly damaging	Het
Mpped1	C	T	15: 83,791,990		probably benign	Het
Mslnl	G	A	17: 25,742,934	V128M	probably damaging	Het
Muc15	A	T	2: 110,737,472	M321L	probably benign	Het
Naa25	T	A	5: 121,434,829	N670K	probably benign	Het
Olfr1336	A	G	7: 6,460,814	M102V	probably benign	Het
Olfr376	T	A	11: 73,375,264	C172S	probably damaging	Het
Olfr513	G	T	7: 108,755,110	V85L	probably benign	Het
Ppara	T	C	15: 85,798,228	I375T	possibly damaging	Het
Prss27	A	G	17: 24,044,903	I188V	probably benign	Het
Rbms1	A	T	2: 60,758,835	M287K	possibly damaging	Het
Relt	C	T	7: 100,851,353		probably null	Het
Rsf1	CG	CGACGGCGGGG	7: 97,579,908		probably benign	Het
Sec24a	A	G	11: 51,708,967	V837A	probably benign	Het
Smarca2	G	A	19: 26,751,905	D19N	probably damaging	Het
Sorbs2	G	A	8: 45,805,777	G620D	probably damaging	Het
Spata31d1c	C	A	13: 65,033,224	Q46K	probably benign	Het
Spata6	C	G	4: 111,780,795	S274*	probably null	Het
Spata6	C	T	4: 111,780,797	P275S	probably benign	Het
Tas2r108	T	A	6: 40,493,632	V14D	probably benign	Het
Thbs2	G	T	17: 14,671,288	P996T	probably damaging	Het
Tmem131l	T	C	3: 83,931,783	Q620R	probably damaging	Het
Ubap2l	A	G	3: 90,034,671	S203P	probably damaging	Het
Unc45b	G	A	11: 82,925,945	G404S	probably benign	Het
Uri1	A	G	7: 37,965,386	S292P	possibly damaging	Het
Usp21	A	T	1: 171,283,081	C444S	probably damaging	Het
Vmn1r117	A	T	7: 20,883,559	V188D	possibly damaging	Het
Vmn1r7	T	C	6: 57,025,158	D39G	probably damaging	Het
Wdr25	T	C	12: 108,898,054	F42L	possibly damaging	Het

Other mutations in Kctd19

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00418:Kctd19	APN	8	105388463	critical splice donor site	probably null
IGL01546:Kctd19	APN	8	105386962	missense	probably benign
IGL01786:Kctd19	APN	8	105390304	missense	probably benign	0.03
IGL01964:Kctd19	APN	8	105388525	missense	probably damaging	0.99
IGL02275:Kctd19	APN	8	105396374	missense	probably damaging	0.99
IGL02479:Kctd19	APN	8	105384768	missense	probably damaging	1.00
IGL03124:Kctd19	APN	8	105387070	missense	possibly damaging	0.48
R0003:Kctd19	UTSW	8	105395361	missense	probably damaging	0.99
R1183:Kctd19	UTSW	8	105382966	missense	probably benign
R1388:Kctd19	UTSW	8	105392051	missense	probably null	0.93
R1491:Kctd19	UTSW	8	105387062	missense	possibly damaging	0.60
R1517:Kctd19	UTSW	8	105395376	missense	probably damaging	1.00
R1540:Kctd19	UTSW	8	105387879	missense	probably damaging	0.96
R1964:Kctd19	UTSW	8	105388470	missense	probably damaging	0.98
R1996:Kctd19	UTSW	8	105395300	missense	probably null	1.00
R2129:Kctd19	UTSW	8	105385172	missense	probably damaging	0.98
R2281:Kctd19	UTSW	8	105387266	missense	probably benign	0.00
R3767:Kctd19	UTSW	8	105396480	missense	probably benign	0.04
R3768:Kctd19	UTSW	8	105396480	missense	probably benign	0.04
R4285:Kctd19	UTSW	8	105382949	unclassified	probably benign
R4621:Kctd19	UTSW	8	105396471	missense	probably damaging	1.00
R4701:Kctd19	UTSW	8	105390429	missense	possibly damaging	0.76
R4969:Kctd19	UTSW	8	105396327	splice site	probably null
R5070:Kctd19	UTSW	8	105391999	missense	probably damaging	1.00
R5401:Kctd19	UTSW	8	105382985	missense	probably benign	0.00
R5582:Kctd19	UTSW	8	105408443	missense	probably damaging	1.00
R5783:Kctd19	UTSW	8	105386980	missense	probably benign
R6056:Kctd19	UTSW	8	105396450	missense	probably damaging	0.99
R6057:Kctd19	UTSW	8	105396450	missense	probably damaging	0.99
R6269:Kctd19	UTSW	8	105395360	missense	possibly damaging	0.96
R6273:Kctd19	UTSW	8	105385485	missense	probably benign
R6631:Kctd19	UTSW	8	105385328	critical splice donor site	probably null
R7298:Kctd19	UTSW	8	105382984	missense	probably benign	0.01
R7474:Kctd19	UTSW	8	105392032	missense	probably benign	0.25
R7540:Kctd19	UTSW	8	105386935	missense	probably benign	0.00
R7923:Kctd19	UTSW	8	105385058	missense	probably damaging	1.00
R8059:Kctd19	UTSW	8	105396351	missense	probably benign	0.02
R8117:Kctd19	UTSW	8	105395437	missense	unknown
R8836:Kctd19	UTSW	8	105385396	missense	probably damaging	0.98
R9155:Kctd19	UTSW	8	105393939	missense	probably benign	0.01
R9429:Kctd19	UTSW	8	105383020	missense	probably damaging	0.98
R9481:Kctd19	UTSW	8	105393617	missense	probably benign	0.00
R9627:Kctd19	UTSW	8	105387365	missense	probably benign	0.01
Z1088:Kctd19	UTSW	8	105385335	missense	probably benign	0.02
Z1176:Kctd19	UTSW	8	105385136	missense	probably damaging	1.00
Z1177:Kctd19	UTSW	8	105388517	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TGAAGCGGAACTCGCTGCATTC -3'
(R):5'- AAGTCCCTATGCTGGGACATCAGG -3'

Sequencing Primer
(F):5'- ATTCGCACTCGATCAGGG -3'
(R):5'- tgaggacccagaacccac -3'

Posted On

2014-04-13