Mutagenetix > Incidental Mutation

Incidental Mutation 'R3768:Kctd19'

273118

Institutional Source

Beutler Lab

Gene Symbol

Kctd19

Ensembl Gene

ENSMUSG00000051648

Gene Name

potassium channel tetramerisation domain containing 19

Synonyms

4922504H04Rik

MMRRC Submission

040745-MU

Accession Numbers

Essential gene?

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

Stock #

R3768 (G1)

Quality Score

182

Status

Not validated

Chromosome

Chromosomal Location

105382807-105413502 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 105396480 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 101 (T101A)

Ref Sequence

ENSEMBL: ENSMUSP00000130831 (fasta)

Gene Model

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

AlphaFold

Q562E2

Predicted Effect

probably benign
Transcript: ENSMUST00000063071
AA Change: T101A

PolyPhen 2 Score 0.036 (Sensitivity: 0.94; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000050687
Gene: ENSMUSG00000051648
AA Change: T101A

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 benign
Transcript: ENSMUST00000167294
AA Change: T101A

PolyPhen 2 Score 0.036 (Sensitivity: 0.94; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000130831
Gene: ENSMUSG00000051648
AA Change: T101A

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

probably benign
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: 99.2%
3x: 98.5%
10x: 97.1%
20x: 94.5%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9130019O22Rik	A	G	7: 127,384,863		probably benign	Het
Abca5	T	C	11: 110,313,391	R353G	probably benign	Het
Ank1	A	G	8: 23,116,186	D1153G	possibly damaging	Het
Ankrd12	T	C	17: 65,985,720	Y906C	probably benign	Het
Apol9a	G	C	15: 77,404,396	T257S	probably benign	Het
Arhgap23	A	T	11: 97,476,106	D1071V	probably damaging	Het
Arid4a	A	G	12: 71,067,119	K160R	probably damaging	Het
Atp8a2	T	A	14: 60,044,336	H142L	probably benign	Het
B3gnt2	T	C	11: 22,836,765	K141R	probably damaging	Het
Btbd7	G	A	12: 102,795,192	P578L	probably damaging	Het
C3	C	T	17: 57,205,303	D1542N	possibly damaging	Het
Cmya5	A	T	13: 93,096,693	I629K	possibly damaging	Het
Cnga4	A	G	7: 105,407,680	N330S	probably damaging	Het
Cplx4	T	C	18: 65,969,927	T41A	probably benign	Het
Cxcl15	A	C	5: 90,801,444	D156A	unknown	Het
D630045J12Rik	A	G	6: 38,142,909	S1633P	probably damaging	Het
Dock10	T	A	1: 80,532,368	N1581I	probably damaging	Het
Dock7	T	C	4: 98,970,829	T1409A	probably benign	Het
Dscaml1	T	A	9: 45,732,137	F1285I	possibly damaging	Het
Fgf10	G	T	13: 118,781,547	V124F	probably damaging	Het
Ifna7	T	C	4: 88,816,727	V167A	probably damaging	Het
Klf3	A	G	5: 64,827,217		probably null	Het
Krtap12-1	G	T	10: 77,720,895	V91L	probably benign	Het
Lrp2	C	T	2: 69,505,105	D1425N	probably benign	Het
Mgl2	T	C	11: 70,135,833	L128P	probably damaging	Het
Mypn	C	A	10: 63,125,707	L1035F	possibly damaging	Het
Ncor2	A	G	5: 125,028,687	V1613A	probably damaging	Het
Nlgn2	C	T	11: 69,828,404	V207I	possibly damaging	Het
Olfr1378	A	G	11: 50,969,558	D180G	probably damaging	Het
Olfr1384	T	C	11: 49,513,773	I45T	probably damaging	Het
Olfr1420	G	A	19: 11,896,312	G97D	probably damaging	Het
Olfr1426	A	G	19: 12,087,940	I284T	probably damaging	Het
Osbpl3	G	A	6: 50,348,002	P172L	possibly damaging	Het
Pabpc4	T	A	4: 123,294,612	V338D	probably damaging	Het
Pdia6	T	C	12: 17,270,456	V32A	probably damaging	Het
Pik3c3	T	A	18: 30,333,273	S792R	probably damaging	Het
Pla2g5	C	G	4: 138,801,435	C70S	probably damaging	Het
Pole4	G	A	6: 82,622,114	R119C	possibly damaging	Het
Ppm1h	G	T	10: 122,904,122	L367F	probably damaging	Het
Ptpru	C	T	4: 131,808,424	C414Y	probably damaging	Het
Rhot2	T	C	17: 25,840,547	D407G	probably benign	Het
Rufy4	T	C	1: 74,147,663	C537R	probably damaging	Het
Sap25	T	A	5: 137,642,370	F171I	probably damaging	Het
Serpinb11	T	C	1: 107,377,662		probably null	Het
Tarm1	A	T	7: 3,497,581	S69T	probably benign	Het
Ugcg	C	T	4: 59,207,798	P46S	probably benign	Het
Usp36	T	C	11: 118,263,052	K846R	probably damaging	Het
Zfp229	A	T	17: 21,745,863	H358L	probably 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
R1582:Kctd19	UTSW	8	105395460	missense	probably damaging	1.00
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
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'- GACTTCAGGGTGTGGGCC -3'
(R):5'- GGGGATGAATACACATAATGAGCAC -3'

Sequencing Primer
(F):5'- CTGCCCGTGACGGTACCTG -3'
(R):5'- TCTGAAATCAGCCTGTGCAG -3'

Posted On

2015-03-25