Mutagenetix > Incidental Mutation

Incidental Mutation 'R1540:Kctd19'

171668

Institutional Source

Beutler Lab

Gene Symbol

Kctd19

Ensembl Gene

ENSMUSG00000051648

Gene Name

potassium channel tetramerisation domain containing 19

Synonyms

4922504H04Rik

MMRRC Submission

039579-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.052) question?

Stock #

R1540 (G1)

Quality Score

196

Status

Validated

Chromosome

Chromosomal Location

106109439-106140134 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 106114511 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 517 (S517P)

Ref Sequence

ENSEMBL: ENSMUSP00000050687 (fasta)

Gene Model

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

AlphaFold

Q562E2

Predicted Effect

probably damaging
Transcript: ENSMUST00000063071
AA Change: S517P

PolyPhen 2 Score 0.962 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000050687
Gene: ENSMUSG00000051648
AA Change: S517P

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

possibly damaging
Transcript: ENSMUST00000167294
AA Change: S494P

PolyPhen 2 Score 0.853 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000130831
Gene: ENSMUSG00000051648
AA Change: S494P

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

Meta Mutation Damage Score

0.1671

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.4%
20x: 93.0%

Validation Efficiency

96% (72/75)

Allele List at MGI

Other mutations in this stock

Total: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Agl	A	G	3: 116,574,384 (GRCm39)	C767R	probably benign	Het
Anpep	C	T	7: 79,488,004 (GRCm39)	E518K	probably benign	Het
Ap3d1	A	T	10: 80,551,775 (GRCm39)	I644N	probably benign	Het
Asb16	A	G	11: 102,163,402 (GRCm39)	I131V	probably benign	Het
Atp6v0a2	C	A	5: 124,784,638 (GRCm39)	A307D	probably damaging	Het
C1qtnf1	C	T	11: 118,338,749 (GRCm39)	H140Y	probably benign	Het
Cacna1g	T	A	11: 94,347,865 (GRCm39)	D741V	probably damaging	Het
Caprin2	T	A	6: 148,777,969 (GRCm39)	T211S	probably benign	Het
Carmil1	T	C	13: 24,283,037 (GRCm39)	E89G	possibly damaging	Het
Casz1	T	A	4: 149,027,357 (GRCm39)		probably benign	Het
Catsperb	G	A	12: 101,378,589 (GRCm39)	R30Q	probably benign	Het
Ccdc102a	A	T	8: 95,634,341 (GRCm39)		probably null	Het
Ccdc110	G	T	8: 46,395,362 (GRCm39)	E418*	probably null	Het
Ccdc90b	C	T	7: 92,231,024 (GRCm39)	A210V	probably benign	Het
Cdadc1	G	T	14: 59,823,532 (GRCm39)	A320E	probably damaging	Het
Cdadc1	T	A	14: 59,823,541 (GRCm39)	Q317L	probably damaging	Het
Cep170	C	A	1: 176,567,498 (GRCm39)	W1396L	probably damaging	Het
Col4a6	T	C	X: 140,010,854 (GRCm39)	T129A	probably damaging	Het
Ctcfl	C	T	2: 172,954,141 (GRCm39)	D319N	probably benign	Het
Dclk1	T	C	3: 55,385,244 (GRCm39)	S45P	probably damaging	Het
Efcab3	T	C	11: 104,999,726 (GRCm39)	I5581T	probably benign	Het
Evi2	T	C	11: 79,406,412 (GRCm39)	I388V	probably benign	Het
Fbxl5	A	T	5: 43,915,978 (GRCm39)	V435E	possibly damaging	Het
Fig4	A	T	10: 41,064,582 (GRCm39)	M887K	possibly damaging	Het
Glt8d1	G	A	14: 30,733,549 (GRCm39)	V345I	probably benign	Het
Gm5709	T	C	3: 59,526,073 (GRCm39)		noncoding transcript	Het
Hsp90b1	A	G	10: 86,529,906 (GRCm39)	F264L	probably damaging	Het
Id3	A	G	4: 135,871,250 (GRCm39)	S21G	possibly damaging	Het
Ighe	T	A	12: 113,235,066 (GRCm39)	N365Y	unknown	Het
Il17rd	T	G	14: 26,821,915 (GRCm39)	M403R	probably damaging	Het
Ints10	A	G	8: 69,249,365 (GRCm39)		probably benign	Het
Kcnc4	T	A	3: 107,352,743 (GRCm39)		probably null	Het
Lama5	A	G	2: 179,821,944 (GRCm39)	F2964L	probably benign	Het
Lin54	A	T	5: 100,628,109 (GRCm39)	N31K	probably damaging	Het
Lrrc8e	A	G	8: 4,284,990 (GRCm39)	K405R	probably benign	Het
Lyst	T	A	13: 13,809,686 (GRCm39)	M452K	possibly damaging	Het
Mroh7	A	G	4: 106,560,273 (GRCm39)	L677P	probably benign	Het
Mrps27	T	A	13: 99,541,558 (GRCm39)	F221I	probably benign	Het
Nhlrc1	C	T	13: 47,167,820 (GRCm39)	V146M	probably damaging	Het
Nlrp9b	T	A	7: 19,782,772 (GRCm39)	C895*	probably null	Het
Nod1	T	C	6: 54,920,960 (GRCm39)	T453A	probably benign	Het
Nodal	T	C	10: 61,258,764 (GRCm39)	V67A	probably damaging	Het
Ntsr1	T	C	2: 180,184,440 (GRCm39)	L381P	probably damaging	Het
Or13c25	T	C	4: 52,910,996 (GRCm39)	D266G	probably benign	Het
Or2b2b	T	A	13: 21,858,700 (GRCm39)	Q138L	probably benign	Het
Or9e1	T	A	11: 58,732,477 (GRCm39)	M179K	probably benign	Het
P2ry14	T	A	3: 59,022,686 (GRCm39)	K267M	probably benign	Het
Pcdh1	T	C	18: 38,322,779 (GRCm39)	N1018S	probably benign	Het
Pkn3	G	A	2: 29,974,703 (GRCm39)	V406I	probably damaging	Het
Prkcb	C	T	7: 122,226,916 (GRCm39)	T634I	probably damaging	Het
Psme2b	T	A	11: 48,836,209 (GRCm39)		probably null	Het
Ptgfrn	A	G	3: 100,967,970 (GRCm39)	I541T	probably benign	Het
Ptpro	T	A	6: 137,420,592 (GRCm39)	V1007D	probably damaging	Het
Ralgapb	T	C	2: 158,307,746 (GRCm39)	V684A	probably benign	Het
Rbbp5	C	T	1: 132,422,020 (GRCm39)	R307*	probably null	Het
Rcor1	T	A	12: 111,070,037 (GRCm39)		probably benign	Het
Rlbp1	C	T	7: 79,029,808 (GRCm39)	A142T	probably damaging	Het
Rps6ka2	A	G	17: 7,560,305 (GRCm39)	E581G	probably null	Het
Sars1	A	T	3: 108,340,461 (GRCm39)	V155E	probably benign	Het
Sec31a	G	C	5: 100,523,178 (GRCm39)	P569A	probably damaging	Het
Selenof	A	T	3: 144,300,685 (GRCm39)	K111*	probably null	Het
Serpinb7	C	T	1: 107,355,998 (GRCm39)	A7V	possibly damaging	Het
Smc4	T	A	3: 68,924,105 (GRCm39)	Y298N	probably damaging	Het
Snrpa1	T	A	7: 65,720,409 (GRCm39)	I204N	probably damaging	Het
Spry4	T	G	18: 38,734,740 (GRCm39)		probably benign	Het
Tcea2	A	G	2: 181,328,751 (GRCm39)	N261S	possibly damaging	Het
Tmem59l	A	G	8: 70,937,804 (GRCm39)	F192S	probably benign	Het
Tnr	T	A	1: 159,677,675 (GRCm39)	I20N	probably damaging	Het
Ttll5	C	T	12: 85,938,982 (GRCm39)	Q427*	probably null	Het
Vps45	C	T	3: 95,955,658 (GRCm39)	A111T	probably damaging	Het
Zfp395	T	C	14: 65,630,523 (GRCm39)	S358P	probably benign	Het
Zfp438	A	G	18: 5,210,740 (GRCm39)	V766A	probably benign	Het

Other mutations in Kctd19

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00418:Kctd19	APN	8	106,115,095 (GRCm39)	critical splice donor site	probably null
IGL01546:Kctd19	APN	8	106,113,594 (GRCm39)	missense	probably benign
IGL01786:Kctd19	APN	8	106,116,936 (GRCm39)	missense	probably benign	0.03
IGL01964:Kctd19	APN	8	106,115,157 (GRCm39)	missense	probably damaging	0.99
IGL02275:Kctd19	APN	8	106,123,006 (GRCm39)	missense	probably damaging	0.99
IGL02479:Kctd19	APN	8	106,111,400 (GRCm39)	missense	probably damaging	1.00
IGL03124:Kctd19	APN	8	106,113,702 (GRCm39)	missense	possibly damaging	0.48
R0003:Kctd19	UTSW	8	106,121,993 (GRCm39)	missense	probably damaging	0.99
R1183:Kctd19	UTSW	8	106,109,598 (GRCm39)	missense	probably benign
R1388:Kctd19	UTSW	8	106,118,683 (GRCm39)	missense	probably null	0.93
R1491:Kctd19	UTSW	8	106,113,694 (GRCm39)	missense	possibly damaging	0.60
R1517:Kctd19	UTSW	8	106,122,008 (GRCm39)	missense	probably damaging	1.00
R1582:Kctd19	UTSW	8	106,122,092 (GRCm39)	missense	probably damaging	1.00
R1964:Kctd19	UTSW	8	106,115,102 (GRCm39)	missense	probably damaging	0.98
R1996:Kctd19	UTSW	8	106,121,932 (GRCm39)	missense	probably null	1.00
R2129:Kctd19	UTSW	8	106,111,804 (GRCm39)	missense	probably damaging	0.98
R2281:Kctd19	UTSW	8	106,113,898 (GRCm39)	missense	probably benign	0.00
R3767:Kctd19	UTSW	8	106,123,112 (GRCm39)	missense	probably benign	0.04
R3768:Kctd19	UTSW	8	106,123,112 (GRCm39)	missense	probably benign	0.04
R4285:Kctd19	UTSW	8	106,109,581 (GRCm39)	unclassified	probably benign
R4621:Kctd19	UTSW	8	106,123,103 (GRCm39)	missense	probably damaging	1.00
R4701:Kctd19	UTSW	8	106,117,061 (GRCm39)	missense	possibly damaging	0.76
R4969:Kctd19	UTSW	8	106,122,959 (GRCm39)	splice site	probably null
R5070:Kctd19	UTSW	8	106,118,631 (GRCm39)	missense	probably damaging	1.00
R5401:Kctd19	UTSW	8	106,109,617 (GRCm39)	missense	probably benign	0.00
R5582:Kctd19	UTSW	8	106,135,075 (GRCm39)	missense	probably damaging	1.00
R5783:Kctd19	UTSW	8	106,113,612 (GRCm39)	missense	probably benign
R6056:Kctd19	UTSW	8	106,123,082 (GRCm39)	missense	probably damaging	0.99
R6057:Kctd19	UTSW	8	106,123,082 (GRCm39)	missense	probably damaging	0.99
R6269:Kctd19	UTSW	8	106,121,992 (GRCm39)	missense	possibly damaging	0.96
R6273:Kctd19	UTSW	8	106,112,117 (GRCm39)	missense	probably benign
R6631:Kctd19	UTSW	8	106,111,960 (GRCm39)	critical splice donor site	probably null
R7298:Kctd19	UTSW	8	106,109,616 (GRCm39)	missense	probably benign	0.01
R7474:Kctd19	UTSW	8	106,118,664 (GRCm39)	missense	probably benign	0.25
R7540:Kctd19	UTSW	8	106,113,567 (GRCm39)	missense	probably benign	0.00
R7923:Kctd19	UTSW	8	106,111,690 (GRCm39)	missense	probably damaging	1.00
R8059:Kctd19	UTSW	8	106,122,983 (GRCm39)	missense	probably benign	0.02
R8117:Kctd19	UTSW	8	106,122,069 (GRCm39)	missense	unknown
R8836:Kctd19	UTSW	8	106,112,028 (GRCm39)	missense	probably damaging	0.98
R9155:Kctd19	UTSW	8	106,120,571 (GRCm39)	missense	probably benign	0.01
R9429:Kctd19	UTSW	8	106,109,652 (GRCm39)	missense	probably damaging	0.98
R9481:Kctd19	UTSW	8	106,120,249 (GRCm39)	missense	probably benign	0.00
R9627:Kctd19	UTSW	8	106,113,997 (GRCm39)	missense	probably benign	0.01
Z1088:Kctd19	UTSW	8	106,111,967 (GRCm39)	missense	probably benign	0.02
Z1176:Kctd19	UTSW	8	106,111,768 (GRCm39)	missense	probably damaging	1.00
Z1177:Kctd19	UTSW	8	106,115,149 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AGGAGAGATTGTTACTCCAGGCCAC -3'
(R):5'- TGAGTCATTGCCCTATGAAAACCCC -3'

Sequencing Primer
(F):5'- AGGAGCTAGGTCTTCCCCTTG -3'
(R):5'- TGTACAACAGACCCACAGCT -3'

Posted On

2014-04-13