Mutagenetix > Incidental Mutation

Incidental Mutation 'R5401:Kctd19'

429995

Institutional Source

Beutler Lab

Gene Symbol

Kctd19

Ensembl Gene

ENSMUSG00000051648

Gene Name

potassium channel tetramerisation domain containing 19

Synonyms

4922504H04Rik

MMRRC Submission

042972-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.059) question?

Stock #

R5401 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

105382807-105413502 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 105382985 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Isoleucine at position 942 (V942I)

Ref Sequence

ENSEMBL: ENSMUSP00000050687 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000014927] [ENSMUST00000063071] [ENSMUST00000159286] [ENSMUST00000160191] [ENSMUST00000167294] [ENSMUST00000168196] [ENSMUST00000214056]

AlphaFold

Q562E2

Predicted Effect

probably benign
Transcript: ENSMUST00000014927

SMART Domains

Protein: ENSMUSP00000014927
Gene: ENSMUSG00000014782

Domain	Start	End	E-Value	Type
low complexity region	364	377	N/A	INTRINSIC
low complexity region	440	451	N/A	INTRINSIC
low complexity region	463	475	N/A	INTRINSIC
low complexity region	535	547	N/A	INTRINSIC
low complexity region	559	577	N/A	INTRINSIC
low complexity region	653	664	N/A	INTRINSIC
low complexity region	701	718	N/A	INTRINSIC
RhoGEF	729	900	3.15e-29	SMART
PH	914	1022	1.44e-5	SMART
low complexity region	1148	1169	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000063071
AA Change: V942I

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

SMART Domains

Protein: ENSMUSP00000050687
Gene: ENSMUSG00000051648
AA Change: V942I

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: ENSMUST00000159286

SMART Domains

Protein: ENSMUSP00000125556
Gene: ENSMUSG00000014782

Domain	Start	End	E-Value	Type
SCOP:d1aua_2	136	275	5e-9	SMART
Blast:SEC14	137	271	9e-8	BLAST

Predicted Effect

probably benign
Transcript: ENSMUST00000160191

SMART Domains

Protein: ENSMUSP00000125249
Gene: ENSMUSG00000014782

Domain	Start	End	E-Value	Type
low complexity region	295	308	N/A	INTRINSIC
low complexity region	371	382	N/A	INTRINSIC
low complexity region	394	406	N/A	INTRINSIC
low complexity region	466	478	N/A	INTRINSIC
low complexity region	490	508	N/A	INTRINSIC
low complexity region	584	595	N/A	INTRINSIC
low complexity region	632	649	N/A	INTRINSIC
RhoGEF	660	831	3.15e-29	SMART
PH	845	953	1.44e-5	SMART
low complexity region	1079	1100	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000161672

Predicted Effect

probably benign
Transcript: ENSMUST00000167294
AA Change: V919I

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000130831
Gene: ENSMUSG00000051648
AA Change: V919I

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

unknown
Transcript: ENSMUST00000168196
AA Change: S136N

Predicted Effect

probably benign
Transcript: ENSMUST00000214056

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.4%
3x: 98.7%
10x: 97.3%
20x: 95.4%

Validation Efficiency

97% (66/68)

Allele List at MGI

Other mutations in this stock

Total: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700001J11Rik	A	G	9: 40,051,042		noncoding transcript	Het
1700025H01Rik	G	T	16: 30,199,983		noncoding transcript	Het
2210016F16Rik	C	A	13: 58,382,591	A202S	probably benign	Het
2410141K09Rik	T	C	13: 66,431,663	R254G	probably benign	Het
9330159F19Rik	T	C	10: 29,225,140	V503A	probably benign	Het
Acacb	A	G	5: 114,209,853	N995S	possibly damaging	Het
Anapc4	A	G	5: 52,863,649	K630R	probably benign	Het
Ankrd13a	A	C	5: 114,792,173	Q206H	probably damaging	Het
Ano10	A	T	9: 122,261,290	L319Q	probably damaging	Het
Asna1	A	T	8: 85,018,544	I298N	possibly damaging	Het
Camkk2	T	A	5: 122,746,335	D341V	probably damaging	Het
Ccdc88a	A	G	11: 29,463,279	I606V	probably benign	Het
Cdv3	G	T	9: 103,365,117		probably benign	Het
Cep97	A	G	16: 55,924,952	V155A	probably benign	Het
Cmya5	T	C	13: 93,091,968	E2204G	probably damaging	Het
Cracr2b	A	G	7: 141,466,223	*395W	probably null	Het
Defa27	A	G	8: 21,315,694	E50G	possibly damaging	Het
Dnah7a	A	G	1: 53,631,653	I480T	probably benign	Het
Ep400	C	A	5: 110,683,171	D2210Y	unknown	Het
Fam170a	T	A	18: 50,280,551	S28T	probably benign	Het
Fancc	C	A	13: 63,402,953	K18N	probably damaging	Het
Flt4	AC	ACC	11: 49,651,034		probably null	Het
Fndc8	T	G	11: 82,897,850	S169A	possibly damaging	Het
Herc1	T	C	9: 66,502,056	Y4688H	probably damaging	Het
Ighv11-2	A	T	12: 114,048,339	D85E	possibly damaging	Het
Kat14	T	C	2: 144,389,260	F196L	possibly damaging	Het
Llgl1	A	G	11: 60,706,471	S249G	probably benign	Het
Map1a	T	C	2: 121,299,672	V323A	probably damaging	Het
Olfr734	C	A	14: 50,320,109	C242F	probably damaging	Het
Phf21a	C	A	2: 92,351,752	T342K	possibly damaging	Het
Piezo2	T	A	18: 63,084,740	D1122V	possibly damaging	Het
Pklr	A	G	3: 89,141,866	Y173C	probably damaging	Het
Plcz1	G	T	6: 139,993,052		probably null	Het
Polr3a	T	C	14: 24,454,941	I1084V	possibly damaging	Het
Prom1	A	T	5: 44,000,805	Y845N	probably damaging	Het
Ret	A	T	6: 118,181,975	S159T	probably benign	Het
Rfx1	C	A	8: 84,066,376		probably null	Het
Scp2	A	T	4: 108,144,779		probably null	Het
Sh3bp5	C	A	14: 31,377,495	R265L	probably benign	Het
Slc22a30	G	A	19: 8,344,393	Q436*	probably null	Het
Smad5	T	C	13: 56,727,469	F157L	probably benign	Het
Smarcc2	C	A	10: 128,465,504	D210E	probably damaging	Het
Sptlc3	T	C	2: 139,636,723	L534P	possibly damaging	Het
Srrm1	A	G	4: 135,324,069		probably benign	Het
Srsf11	C	T	3: 158,023,344		probably benign	Het
Sugct	T	A	13: 16,857,870	Q432H	probably damaging	Het
Tex9	A	T	9: 72,486,778		probably null	Het
Tsc1	C	A	2: 28,686,908	S1073*	probably null	Het
Vmn1r72	T	C	7: 11,669,916	S202G	probably damaging	Het
Vmn2r55	A	G	7: 12,651,944	V703A	probably benign	Het
Vmn2r67	A	T	7: 85,136,557	Y747N	probably damaging	Het
Zcchc4	A	G	5: 52,807,077	I292V	probably benign	Het
Zswim2	C	T	2: 83,925,245	G104E	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
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
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
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'- GGCAGTGACACTCTGTTTTCTC -3'
(R):5'- TTCCCTGCTCAGATAAGGGAG -3'

Sequencing Primer
(F):5'- GTTTTCTCAGAGAAGAAATCTAGGC -3'
(R):5'- GAGCACCCCTCACACGGAG -3'

Posted On

2016-09-06