Mutagenetix > Incidental Mutation

Incidental Mutation 'R1517:Kctd19'

167102

Institutional Source

Beutler Lab

Gene Symbol

Kctd19

Ensembl Gene

ENSMUSG00000051648

Gene Name

potassium channel tetramerisation domain containing 19

Synonyms

4922504H04Rik

MMRRC Submission

039563-MU

Accession Numbers

Essential gene?

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

Stock #

R1517 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

105382807-105413502 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 105395376 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Tyrosine at position 180 (D180Y)

Ref Sequence

ENSEMBL: ENSMUSP00000130831 (fasta)

Gene Model

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

AlphaFold

Q562E2

Predicted Effect

probably damaging
Transcript: ENSMUST00000063071
AA Change: D180Y

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000050687
Gene: ENSMUSG00000051648
AA Change: D180Y

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 damaging
Transcript: ENSMUST00000167294
AA Change: D180Y

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000130831
Gene: ENSMUSG00000051648
AA Change: D180Y

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

silent
Transcript: ENSMUST00000168888

SMART Domains

Protein: ENSMUSP00000131732
Gene: ENSMUSG00000051648

Domain	Start	End	E-Value	Type
Pfam:BTB_2	15	95	4.3e-12	PFAM

Meta Mutation Damage Score

0.2066

Coding Region Coverage

1x: 99.1%
3x: 98.2%
10x: 95.9%
20x: 91.9%

Validation Efficiency

100% (67/67)

Allele List at MGI

Other mutations in this stock

Total: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca8b	T	C	11: 109,971,814 (GRCm38)	K375R	possibly damaging	Het
Adrb2	T	C	18: 62,178,800 (GRCm38)	N318S	probably damaging	Het
Akap5	A	C	12: 76,329,262 (GRCm38)	E489D	possibly damaging	Het
Aldh7a1	T	A	18: 56,532,061 (GRCm38)	I385F	probably damaging	Het
Astn1	T	A	1: 158,579,576 (GRCm38)		probably benign	Het
Atp7b	T	A	8: 21,997,358 (GRCm38)	T1314S	probably damaging	Het
Bhmt2	C	A	13: 93,662,339 (GRCm38)	G325C	probably damaging	Het
Brpf1	T	A	6: 113,319,089 (GRCm38)	V781E	probably benign	Het
Cacna1c	T	A	6: 118,598,759 (GRCm38)	Y1860F	probably benign	Het
Ccdc7a	T	C	8: 129,061,681 (GRCm38)	T56A	probably damaging	Het
Cep78	A	G	19: 15,959,663 (GRCm38)	S560P	probably damaging	Het
Cnot1	G	A	8: 95,743,213 (GRCm38)	T1343I	probably benign	Het
Coq10b	T	C	1: 55,064,257 (GRCm38)	S65P	probably damaging	Het
Creld1	T	A	6: 113,489,784 (GRCm38)	C243S	probably damaging	Het
Cst12	A	T	2: 148,793,252 (GRCm38)	I121F	possibly damaging	Het
Cyp26a1	A	C	19: 37,698,860 (GRCm38)	E165A	probably benign	Het
Cyp2d12	T	G	15: 82,558,136 (GRCm38)	M273R	probably damaging	Het
Dnajb7	T	A	15: 81,407,456 (GRCm38)	S227C	probably damaging	Het
Evc	T	A	5: 37,319,035 (GRCm38)	Q390L	probably damaging	Het
F830016B08Rik	T	A	18: 60,300,898 (GRCm38)	L351*	probably null	Het
Fga	T	C	3: 83,031,838 (GRCm38)	S507P	probably benign	Het
Gba	A	T	3: 89,206,148 (GRCm38)	Y239F	probably damaging	Het
Golga2	C	A	2: 32,305,984 (GRCm38)	Y843*	probably null	Het
Gria4	C	A	9: 4,793,865 (GRCm38)	L64F	probably damaging	Het
Hectd3	A	G	4: 117,002,994 (GRCm38)	Y803C	probably damaging	Het
Hmcn1	T	C	1: 150,669,421 (GRCm38)	K2812E	probably damaging	Het
Il17b	T	G	18: 61,690,245 (GRCm38)	V50G	probably damaging	Het
Itga2b	A	T	11: 102,466,325 (GRCm38)	L243*	probably null	Het
Kank4	C	A	4: 98,779,029 (GRCm38)	V394L	possibly damaging	Het
Kat14	T	A	2: 144,373,791 (GRCm38)	D65E	probably benign	Het
Kcnh3	T	C	15: 99,238,209 (GRCm38)	Y696H	probably damaging	Het
Klra8	A	C	6: 130,115,640 (GRCm38)	S233A	probably benign	Het
Masp2	A	T	4: 148,612,106 (GRCm38)	T387S	possibly damaging	Het
Midn	C	A	10: 80,154,123 (GRCm38)	T275N	probably damaging	Het
Mis18bp1	A	G	12: 65,133,813 (GRCm38)	F965L	probably benign	Het
Myo3a	G	T	2: 22,282,634 (GRCm38)	V186L	probably damaging	Het
Ncoa2	T	A	1: 13,165,057 (GRCm38)	N884I	probably benign	Het
Olfr1082	T	A	2: 86,594,604 (GRCm38)	T75S	probably damaging	Het
Olfr272	A	T	4: 52,911,502 (GRCm38)	C97*	probably null	Het
Olfr963	T	C	9: 39,669,720 (GRCm38)	I221T	probably damaging	Het
Osr2	T	C	15: 35,300,667 (GRCm38)	V123A	probably benign	Het
P4ha2	A	G	11: 54,117,645 (GRCm38)	H226R	probably benign	Het
Pcdhb16	T	A	18: 37,478,098 (GRCm38)	V37E	probably benign	Het
Pcdhb18	T	A	18: 37,489,620 (GRCm38)	M1K	probably null	Het
Pcsk1	T	A	13: 75,098,047 (GRCm38)	Y181*	probably null	Het
Pros1	G	T	16: 62,885,512 (GRCm38)	C63F	probably damaging	Het
Ranbp3l	T	A	15: 9,065,001 (GRCm38)	C353*	probably null	Het
Rev3l	T	C	10: 39,838,443 (GRCm38)	Y2388H	probably benign	Het
Rif1	GCCACCA	GCCA	2: 52,110,324 (GRCm38)		probably benign	Het
Rpl12-ps1	G	T	1: 36,958,377 (GRCm38)		noncoding transcript	Het
Rttn	T	C	18: 89,113,350 (GRCm38)	V1951A	probably benign	Het
Scn9a	G	A	2: 66,505,027 (GRCm38)		probably benign	Het
Sdk1	T	C	5: 142,127,836 (GRCm38)	F1546S	probably damaging	Het
Sh3glb2	C	T	2: 30,354,975 (GRCm38)	R71Q	probably damaging	Het
Slc30a6	T	C	17: 74,408,847 (GRCm38)	F101L	probably benign	Het
Snrpd1	T	C	18: 10,626,913 (GRCm38)	I60T	probably damaging	Het
Sox10	T	A	15: 79,159,178 (GRCm38)	E218D	probably benign	Het
Tekt3	C	A	11: 63,070,490 (GRCm38)	H162N	probably damaging	Het
Tnfsf13	T	C	11: 69,684,738 (GRCm38)	S246G	possibly damaging	Het
Trim10	T	A	17: 36,872,454 (GRCm38)	I214N	probably damaging	Het
Trp63	C	A	16: 25,889,253 (GRCm38)	D566E	probably damaging	Het
Uck2	T	C	1: 167,234,724 (GRCm38)	D156G	probably damaging	Het
Zfp386	T	A	12: 116,059,605 (GRCm38)	S314R	possibly damaging	Het
Zfp467	C	T	6: 48,438,236 (GRCm38)	R494H	probably damaging	Het
Zfp735	A	T	11: 73,710,644 (GRCm38)	D138V	probably benign	Het
Zfyve26	T	C	12: 79,252,151 (GRCm38)	E445G	probably damaging	Het

Other mutations in Kctd19

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00418:Kctd19	APN	8	105,388,463 (GRCm38)	critical splice donor site	probably null
IGL01546:Kctd19	APN	8	105,386,962 (GRCm38)	missense	probably benign
IGL01786:Kctd19	APN	8	105,390,304 (GRCm38)	missense	probably benign	0.03
IGL01964:Kctd19	APN	8	105,388,525 (GRCm38)	missense	probably damaging	0.99
IGL02275:Kctd19	APN	8	105,396,374 (GRCm38)	missense	probably damaging	0.99
IGL02479:Kctd19	APN	8	105,384,768 (GRCm38)	missense	probably damaging	1.00
IGL03124:Kctd19	APN	8	105,387,070 (GRCm38)	missense	possibly damaging	0.48
R0003:Kctd19	UTSW	8	105,395,361 (GRCm38)	missense	probably damaging	0.99
R1183:Kctd19	UTSW	8	105,382,966 (GRCm38)	missense	probably benign
R1388:Kctd19	UTSW	8	105,392,051 (GRCm38)	missense	probably null	0.93
R1491:Kctd19	UTSW	8	105,387,062 (GRCm38)	missense	possibly damaging	0.60
R1540:Kctd19	UTSW	8	105,387,879 (GRCm38)	missense	probably damaging	0.96
R1582:Kctd19	UTSW	8	105,395,460 (GRCm38)	missense	probably damaging	1.00
R1964:Kctd19	UTSW	8	105,388,470 (GRCm38)	missense	probably damaging	0.98
R1996:Kctd19	UTSW	8	105,395,300 (GRCm38)	missense	probably null	1.00
R2129:Kctd19	UTSW	8	105,385,172 (GRCm38)	missense	probably damaging	0.98
R2281:Kctd19	UTSW	8	105,387,266 (GRCm38)	missense	probably benign	0.00
R3767:Kctd19	UTSW	8	105,396,480 (GRCm38)	missense	probably benign	0.04
R3768:Kctd19	UTSW	8	105,396,480 (GRCm38)	missense	probably benign	0.04
R4285:Kctd19	UTSW	8	105,382,949 (GRCm38)	unclassified	probably benign
R4621:Kctd19	UTSW	8	105,396,471 (GRCm38)	missense	probably damaging	1.00
R4701:Kctd19	UTSW	8	105,390,429 (GRCm38)	missense	possibly damaging	0.76
R4969:Kctd19	UTSW	8	105,396,327 (GRCm38)	splice site	probably null
R5070:Kctd19	UTSW	8	105,391,999 (GRCm38)	missense	probably damaging	1.00
R5401:Kctd19	UTSW	8	105,382,985 (GRCm38)	missense	probably benign	0.00
R5582:Kctd19	UTSW	8	105,408,443 (GRCm38)	missense	probably damaging	1.00
R5783:Kctd19	UTSW	8	105,386,980 (GRCm38)	missense	probably benign
R6056:Kctd19	UTSW	8	105,396,450 (GRCm38)	missense	probably damaging	0.99
R6057:Kctd19	UTSW	8	105,396,450 (GRCm38)	missense	probably damaging	0.99
R6269:Kctd19	UTSW	8	105,395,360 (GRCm38)	missense	possibly damaging	0.96
R6273:Kctd19	UTSW	8	105,385,485 (GRCm38)	missense	probably benign
R6631:Kctd19	UTSW	8	105,385,328 (GRCm38)	critical splice donor site	probably null
R7298:Kctd19	UTSW	8	105,382,984 (GRCm38)	missense	probably benign	0.01
R7474:Kctd19	UTSW	8	105,392,032 (GRCm38)	missense	probably benign	0.25
R7540:Kctd19	UTSW	8	105,386,935 (GRCm38)	missense	probably benign	0.00
R7923:Kctd19	UTSW	8	105,385,058 (GRCm38)	missense	probably damaging	1.00
R8059:Kctd19	UTSW	8	105,396,351 (GRCm38)	missense	probably benign	0.02
R8117:Kctd19	UTSW	8	105,395,437 (GRCm38)	missense	unknown
R8836:Kctd19	UTSW	8	105,385,396 (GRCm38)	missense	probably damaging	0.98
R9155:Kctd19	UTSW	8	105,393,939 (GRCm38)	missense	probably benign	0.01
R9429:Kctd19	UTSW	8	105,383,020 (GRCm38)	missense	probably damaging	0.98
R9481:Kctd19	UTSW	8	105,393,617 (GRCm38)	missense	probably benign	0.00
R9627:Kctd19	UTSW	8	105,387,365 (GRCm38)	missense	probably benign	0.01
Z1088:Kctd19	UTSW	8	105,385,335 (GRCm38)	missense	probably benign	0.02
Z1176:Kctd19	UTSW	8	105,385,136 (GRCm38)	missense	probably damaging	1.00
Z1177:Kctd19	UTSW	8	105,388,517 (GRCm38)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AGGTCATCGTGTTCCTACAGCCTC -3'
(R):5'- TGTATGGCAGAGACTGTCCCTGAG -3'

Sequencing Primer
(F):5'- CACAAATGGACCCTTGCTAGG -3'
(R):5'- AGACTGTCCCTGAGTGGTCC -3'

Posted On

2014-04-13