Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01786:Kctd19'

155078

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 #

IGL01786

Quality Score

Status

Chromosome

Chromosomal Location

105382807-105413502 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 105390304 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 398 (T398A)

Ref Sequence

ENSEMBL: ENSMUSP00000050687 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000063071] [ENSMUST00000167294] [ENSMUST00000168196] [ENSMUST00000168888]

AlphaFold

Q562E2

Predicted Effect

probably benign
Transcript: ENSMUST00000063071
AA Change: T398A

PolyPhen 2 Score 0.025 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000050687
Gene: ENSMUSG00000051648
AA Change: T398A

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: T375A

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000130831
Gene: ENSMUSG00000051648
AA Change: T375A

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: 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

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 29 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam9	T	A	8: 24,996,839	H20L	probably damaging	Het
Ano3	T	A	2: 110,682,715	Q645L	probably damaging	Het
Clasp1	T	A	1: 118,497,736	L272Q	possibly damaging	Het
Corin	T	C	5: 72,339,876	N532S	probably damaging	Het
Ddx1	A	T	12: 13,229,136	D468E	probably benign	Het
Hk2	A	G	6: 82,739,553	S333P	probably benign	Het
Klra8	T	A	6: 130,119,068		probably null	Het
Mcm8	A	G	2: 132,827,948	D314G	probably benign	Het
Mga	T	A	2: 119,902,912	D80E	probably damaging	Het
Mylk3	T	C	8: 85,359,317	Q36R	probably benign	Het
Myom2	T	C	8: 15,106,330	S726P	probably damaging	Het
Nuf2	T	C	1: 169,510,483	S242G	possibly damaging	Het
Nup210l	T	A	3: 90,122,776	Y265*	probably null	Het
Olfr1445	C	T	19: 12,884,277	T132I	probably damaging	Het
Olfr530	T	A	7: 140,373,125	M162L	probably benign	Het
Otud3	T	C	4: 138,896,897	D278G	probably benign	Het
Papolg	A	G	11: 23,874,488	V298A	probably damaging	Het
Phc1	T	C	6: 122,319,520	D847G	possibly damaging	Het
Pkd2l1	A	G	19: 44,191,442	F110L	probably damaging	Het
Plxnd1	T	A	6: 115,959,935	T1638S	probably damaging	Het
Polr3a	G	A	14: 24,484,120	Q106*	probably null	Het
Rnf32	T	C	5: 29,206,814		probably benign	Het
Slc30a9	A	G	5: 67,346,238		probably benign	Het
Slc44a2	A	G	9: 21,352,486	Y650C	probably damaging	Het
Sv2a	A	T	3: 96,188,209	Y306F	probably benign	Het
Tmem50a	T	C	4: 134,898,447	E153G	probably damaging	Het
Tor1a	A	G	2: 30,963,703		probably null	Het
Tusc5	G	A	11: 76,680,466	V103I	probably benign	Het
Usp20	A	G	2: 31,017,163	E594G	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
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

2014-02-04