Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL03124:Kctd19'

410087

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Kctd19

Ensembl Gene

ENSMUSG00000051648

Gene Name

potassium channel tetramerisation domain containing 19

Synonyms

4922504H04Rik

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.060) question?

Stock #

IGL03124

Quality Score

Status

Chromosome

Chromosomal Location

105382807-105413502 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 105387070 bp

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Leucine at position 657 (Q657L)

Ref Sequence

ENSEMBL: ENSMUSP00000050687 (fasta)

Gene Model

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

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

possibly damaging
Transcript: ENSMUST00000063071
AA Change: Q657L

PolyPhen 2 Score 0.479 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000050687
Gene: ENSMUSG00000051648
AA Change: Q657L

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: Q634L

PolyPhen 2 Score 0.348 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000130831
Gene: ENSMUSG00000051648
AA Change: Q634L

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: ENSMUST00000168196

Predicted Effect

probably benign
Transcript: ENSMUST00000214056

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110017D15Rik	T	C	4: 41,507,287	N170D	possibly damaging	Het
1700018B08Rik	C	A	8: 121,541,710		probably benign	Het
4931414P19Rik	A	G	14: 54,595,139	V193A	probably benign	Het
Acap3	T	C	4: 155,905,033	S645P	probably benign	Het
Alms1	A	G	6: 85,678,419	I3316V	probably benign	Het
Apc	T	G	18: 34,299,985	H424Q	probably damaging	Het
BC003331	A	G	1: 150,386,425	V88A	probably benign	Het
Camsap2	A	T	1: 136,274,799		probably null	Het
Car13	C	T	3: 14,656,940	P182L	possibly damaging	Het
Ccdc87	T	G	19: 4,841,054	S525A	probably damaging	Het
Ces1f	T	C	8: 93,275,384	N39D	probably benign	Het
Cyp2j13	C	A	4: 96,061,922	A281S	possibly damaging	Het
Cyp4f15	G	A	17: 32,685,812		probably null	Het
Fam208b	A	T	13: 3,574,704	Y1749N	probably benign	Het
Fat4	C	A	3: 38,981,552	R3118S	possibly damaging	Het
Glg1	C	T	8: 111,200,171	V171M	probably damaging	Het
Hivep1	G	T	13: 42,158,904	G1540V	possibly damaging	Het
Ighm	T	C	12: 113,421,638	D234G	unknown	Het
Igsf10	T	C	3: 59,319,665	T2196A	probably benign	Het
Klhl40	T	A	9: 121,780,685	I512N	probably damaging	Het
Lima1	A	T	15: 99,796,734		probably benign	Het
Map2k4	A	C	11: 65,690,791	I365S	probably damaging	Het
Mast4	T	A	13: 102,738,245	K1346N	probably damaging	Het
Met	T	A	6: 17,492,078	F280I	probably benign	Het
Ncapg	A	G	5: 45,671,209	T101A	probably benign	Het
Nup214	T	C	2: 31,996,440	F605L	probably benign	Het
Olfr291	T	A	7: 84,856,723	M118K	probably damaging	Het
Olfr639	G	T	7: 104,011,794	Q303K	probably benign	Het
Olfr873	T	A	9: 20,301,163	M322K	probably benign	Het
Pck2	C	T	14: 55,545,333	T373I	probably damaging	Het
Pcna	C	T	2: 132,251,753	E109K	probably benign	Het
Pecr	A	C	1: 72,277,340	S69A	probably benign	Het
Pitpnb	A	G	5: 111,330,830	E6G	possibly damaging	Het
Pkd1l2	G	A	8: 117,065,745	T436I	probably benign	Het
Plbd2	A	T	5: 120,493,077	F212I	possibly damaging	Het
Rfk	T	A	19: 17,398,595	H84Q	possibly damaging	Het
Scp2	T	A	4: 108,063,906	I36F	probably damaging	Het
Slc9a4	A	G	1: 40,580,735	T74A	probably damaging	Het
St6galnac1	G	A	11: 116,775,299	A35V	probably benign	Het
Tmem8	G	A	17: 26,116,834	R65Q	probably damaging	Het
Trav17	T	C	14: 53,806,649	V4A	probably benign	Het
Vmn1r57	A	T	7: 5,221,022	H182L	possibly damaging	Het
Vwa8	A	T	14: 79,058,815		probably benign	Het
Zgpat	A	G	2: 181,366,180	Y170C	probably benign	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
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
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
R8059:Kctd19	UTSW	8	105396351	missense	probably benign	0.02
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

Posted On

2016-08-02