Mutagenetix > Incidental Mutation

Incidental Mutation 'R9155:Kctd19'

695307

Institutional Source

Beutler Lab

Gene Symbol

Kctd19

Ensembl Gene

ENSMUSG00000051648

Gene Name

potassium channel tetramerisation domain containing 19

Synonyms

4922504H04Rik

MMRRC Submission

068941-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.063) question?

Stock #

R9155 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

105382807-105413502 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 105393939 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Arginine at position 221 (H221R)

Ref Sequence

ENSEMBL: ENSMUSP00000050687 (fasta)

Gene Model

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

AlphaFold

Q562E2

Predicted Effect

probably benign
Transcript: ENSMUST00000063071
AA Change: H221R

PolyPhen 2 Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000050687
Gene: ENSMUSG00000051648
AA Change: H221R

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: H221R

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)

SMART Domains

Protein: ENSMUSP00000130831
Gene: ENSMUSG00000051648
AA Change: H221R

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: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.0%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700028K03Rik	A	G	5: 107,543,945	E34G	probably damaging	Het
4932415D10Rik	A	T	10: 82,284,369	I4269N	probably damaging	Het
Aldh1a3	A	T	7: 66,409,119	L157*	probably null	Het
Asic2	T	A	11: 80,894,046	T356S	probably benign	Het
Ate1	T	C	7: 130,394,733	D459G	probably damaging	Het
Cacna1g	T	A	11: 94,459,597	Q474L		Het
Carf	C	A	1: 60,150,683	T689K	possibly damaging	Het
Carmil2	A	G	8: 105,686,290	D6G	probably benign	Het
Ccnd2	A	C	6: 127,150,700	V25G	probably damaging	Het
Ccnk	T	A	12: 108,193,719	F153L	probably damaging	Het
Cdh23	C	T	10: 60,413,706	G808E	probably damaging	Het
Clec11a	C	T	7: 44,304,893	R212Q	probably damaging	Het
Cog4	T	C	8: 110,881,752	W749R	probably damaging	Het
Col6a3	T	A	1: 90,810,579	T1073S	probably benign	Het
Col6a4	T	A	9: 106,075,010	D563V	probably benign	Het
Coq5	A	G	5: 115,295,780		probably null	Het
Crebbp	A	C	16: 4,096,482	H1292Q	probably damaging	Het
Csmd3	C	A	15: 47,585,655	G2737W		Het
Ddrgk1	T	C	2: 130,658,307	Y223C	probably damaging	Het
Dennd1c	T	C	17: 57,066,796	Q589R	probably benign	Het
Dnah10	A	G	5: 124,830,411	D4336G	probably damaging	Het
Dnah11	C	T	12: 118,027,516	E2372K	probably damaging	Het
E330034G19Rik	A	T	14: 24,296,870	Q140L	possibly damaging	Het
Ergic3	A	G	2: 156,008,860	Y83C	probably damaging	Het
Fam171a2	A	T	11: 102,438,671	S421T	probably benign	Het
Fam26f	T	C	10: 34,126,367	E240G	probably damaging	Het
Fndc3a	T	A	14: 72,683,722	H4L	possibly damaging	Het
Gid8	T	A	2: 180,717,963	Y213*	probably null	Het
Gm9573	G	A	17: 35,621,239	P685L	unknown	Het
Hephl1	G	T	9: 15,089,079	H292Q	probably damaging	Het
Hexb	T	C	13: 97,177,906	Y443C	probably damaging	Het
Htr1f	C	T	16: 64,926,425	R168H	probably benign	Het
Hus1	A	G	11: 9,006,056	I159T	probably damaging	Het
Inha	A	G	1: 75,509,489	T143A	probably benign	Het
Itga8	A	G	2: 12,189,519	I690T	probably benign	Het
Itgae	G	T	11: 73,125,263	C766F	possibly damaging	Het
Kank4	T	C	4: 98,778,326	E628G	probably benign	Het
Llgl1	A	G	11: 60,707,108	E351G	probably benign	Het
Lrba	A	G	3: 86,295,201	Y253C	probably damaging	Het
Lrp2	T	A	2: 69,461,369	R3489*	probably null	Het
Lrriq1	T	C	10: 103,214,779	N704S	probably benign	Het
Mbtps1	T	C	8: 119,508,954	N995S	probably benign	Het
Mga	T	C	2: 119,926,532	C1077R	probably damaging	Het
Ndufv1	A	T	19: 4,009,912	C142S	probably damaging	Het
Nkx3-1	T	C	14: 69,192,211	L226P	probably damaging	Het
Nsd1	C	T	13: 55,213,440	R74W	probably damaging	Het
Olfr136	A	T	17: 38,335,333	M59L	probably damaging	Het
Olfr1451	G	A	19: 12,999,064	C26Y	probably benign	Het
Olfr361	A	C	2: 37,085,004	M248R	probably benign	Het
Olfr412	A	G	11: 74,364,965	T99A	probably benign	Het
Olfr855	A	T	9: 19,585,083	D182V	probably benign	Het
Phc3	A	G	3: 30,914,542	V812A	probably benign	Het
Pigt	CCAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGATCTGTAACCACAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGATCTGTAACCACAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGAT	CCAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGATCTGTAACCACAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGAT	2: 164,499,669		probably null	Het
Ppp4c	A	T	7: 126,787,247	C193S	possibly damaging	Het
Rbbp5	C	A	1: 132,494,285	P308T	probably damaging	Het
Rhot1	A	G	11: 80,257,554	T607A	probably null	Het
Secisbp2l	G	A	2: 125,775,703	P18L	probably damaging	Het
Slc27a4	G	A	2: 29,811,282	G362S	probably damaging	Het
Slc4a8	T	C	15: 100,774,690	Y36H	probably damaging	Het
Sox17	T	C	1: 4,492,224	Y251C	probably damaging	Het
Taf4b	T	C	18: 14,813,239	V373A	probably benign	Het
Tecpr2	T	A	12: 110,914,750	V107E	probably damaging	Het
Them7	A	G	2: 105,378,779	Y148C	probably damaging	Het
Tktl2	T	A	8: 66,513,206	M472K	possibly damaging	Het
Ttn	C	T	2: 76,795,593	V15041I	probably damaging	Het
Ubr1	A	G	2: 120,924,134	V751A	possibly damaging	Het
Vmn1r213	A	T	13: 23,012,173	R309*	probably null	Het
Vmn2r10	A	T	5: 108,996,346	D579E	probably benign	Het
Vmn2r118	T	C	17: 55,610,207	Q435R	probably null	Het
Vmn2r50	A	T	7: 10,047,644	H391Q	probably damaging	Het
Zbtb44	A	T	9: 31,054,013	I240F	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
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
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'- AGTCCAAAGTGGCTGTCAGG -3'
(R):5'- GGGTCTTTGAAAAGCATTGCCC -3'

Sequencing Primer
(F):5'- GCTTCTGTAGCTCAAGCCCAG -3'
(R):5'- TCTTTGAAAAGCATTGCCCCAGAAC -3'

Posted On

2022-01-20