Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01546:Kctd19'

90333

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: 0.059) question?

Stock #

IGL01546

Quality Score

Status

Chromosome

Chromosomal Location

105382807-105413502 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 105386962 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Arginine at position 670 (H670R)

Ref Sequence

ENSEMBL: ENSMUSP00000130831 (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: H693R

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000050687
Gene: ENSMUSG00000051648
AA Change: H693R

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: H670R

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000130831
Gene: ENSMUSG00000051648
AA Change: H670R

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: 25 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700016D06Rik	T	A	8: 11,656,136	M133L	probably benign	Het
Amdhd2	C	A	17: 24,163,600	R22L	probably benign	Het
Arg2	T	C	12: 79,149,859		probably benign	Het
Catip	T	C	1: 74,362,795	L43P	probably damaging	Het
Ccdc30	A	C	4: 119,398,188	L123R	probably damaging	Het
Cep89	T	C	7: 35,420,900	L369P	probably damaging	Het
Dolpp1	T	C	2: 30,397,095	F180L	probably damaging	Het
Kntc1	T	A	5: 123,765,005	I315N	probably benign	Het
Mfsd4b2	A	T	10: 39,921,475	W295R	probably damaging	Het
Mgam	A	G	6: 40,654,693	T116A	probably damaging	Het
Mn1	A	T	5: 111,421,248	D1028V	probably damaging	Het
Olfr19	A	G	16: 16,673,265	S239P	probably damaging	Het
Olfr23	G	A	11: 73,941,194	G316D	probably benign	Het
Olfr592	A	T	7: 103,187,410	I270F	probably damaging	Het
Olfr690	T	C	7: 105,329,692	R167G	probably damaging	Het
Olfr694	A	G	7: 106,689,531	S67P	probably damaging	Het
Olfr845	T	G	9: 19,338,772	V104G	possibly damaging	Het
Phc3	C	A	3: 30,961,739	A108S	probably damaging	Het
Pkhd1l1	A	G	15: 44,566,316	Y3310C	probably damaging	Het
Ppp4r3b	T	C	11: 29,209,488		probably null	Het
Slx4ip	A	G	2: 137,066,199	T159A	probably benign	Het
Sos1	T	A	17: 80,408,611	Y974F	probably damaging	Het
Taar8a	A	T	10: 24,076,915	Y139F	possibly damaging	Het
Vcam1	A	G	3: 116,115,942	C579R	possibly damaging	Het
Zdhhc17	C	T	10: 110,946,193	V547M	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
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
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

Posted On

2013-12-03