Mutagenetix > Incidental Mutation

Incidental Mutation 'R4621:Kctd19'

346155

Institutional Source

Beutler Lab

Gene Symbol

Kctd19

Ensembl Gene

ENSMUSG00000051648

Gene Name

potassium channel tetramerisation domain containing 19

Synonyms

4922504H04Rik

MMRRC Submission

041886-MU

Accession Numbers

Essential gene?

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

Stock #

R4621 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

105382807-105413502 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 105396471 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Histidine at position 104 (N104H)

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: N104H

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

SMART Domains

Protein: ENSMUSP00000050687
Gene: ENSMUSG00000051648
AA Change: N104H

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: N104H

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

SMART Domains

Protein: ENSMUSP00000130831
Gene: ENSMUSG00000051648
AA Change: N104H

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

Meta Mutation Damage Score

0.0820

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.1%
20x: 94.9%

Validation Efficiency

100% (90/90)

Allele List at MGI

Other mutations in this stock

Total: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1500015O10Rik	G	A	1: 43,737,252		probably null	Het
Abhd2	T	C	7: 79,325,487	Y142H	probably damaging	Het
Abra	C	T	15: 41,869,224	D149N	probably benign	Het
Acin1	A	T	14: 54,653,443		probably benign	Het
Adap2	T	A	11: 80,174,073		probably null	Het
Afdn	A	G	17: 13,888,820	E1535G	probably damaging	Het
Ak9	A	G	10: 41,406,891	N1218D	possibly damaging	Het
Angptl1	G	A	1: 156,844,924	V107M	probably damaging	Het
Arhgap26	G	A	18: 38,899,841		probably benign	Het
Cage1	A	C	13: 38,025,501	S61A	possibly damaging	Het
Cdadc1	T	C	14: 59,586,555	T163A	probably benign	Het
Celsr2	A	T	3: 108,395,216	V2568D	possibly damaging	Het
Cep44	G	A	8: 56,542,916	T166M	probably damaging	Het
Cnksr3	T	C	10: 7,126,182	K187E	possibly damaging	Het
Cyp20a1	A	G	1: 60,376,099	T295A	probably benign	Het
Dus2	T	A	8: 106,030,442	M88K	probably damaging	Het
E330034G19Rik	A	T	14: 24,296,002		probably benign	Het
Efna5	T	C	17: 62,651,045	D72G	probably benign	Het
Epb41l2	T	C	10: 25,502,140		probably null	Het
Espn	A	G	4: 152,131,252	S408P	probably damaging	Het
Evi5l	T	C	8: 4,202,909		probably benign	Het
F830016B08Rik	G	A	18: 60,300,867	V341I	probably benign	Het
Flii	A	G	11: 60,716,111	L1013P	possibly damaging	Het
Fndc10	G	A	4: 155,694,807	V103M	probably damaging	Het
Frem3	T	A	8: 80,669,191		probably null	Het
Gltp	C	T	5: 114,674,127	R106Q	probably damaging	Het
Gm7102	C	T	19: 61,175,926	G24R	unknown	Het
Gm996	G	A	2: 25,578,400	P500S	probably damaging	Het
Gtf3c3	A	G	1: 54,419,416	Y449H	probably damaging	Het
Hils1	G	A	11: 94,968,160	V94M	probably damaging	Het
Hmga1b	T	C	11: 120,763,040	V51A	probably damaging	Het
Hsph1	A	G	5: 149,618,843	V705A	probably benign	Het
Igkv13-84	T	C	6: 68,939,799	S27P	possibly damaging	Het
Il15ra	A	G	2: 11,718,329	N55D	possibly damaging	Het
Kif27	T	G	13: 58,331,013	D572A	probably benign	Het
Larp1b	G	A	3: 40,963,989	G22R	possibly damaging	Het
Lcn2	A	T	2: 32,384,643		probably benign	Het
Lmtk2	T	A	5: 144,174,934	I824N	probably benign	Het
Ltbp2	A	G	12: 84,809,348	I707T	probably damaging	Het
Macf1	A	G	4: 123,372,348		probably null	Het
Magel2	A	T	7: 62,377,738	H130L	unknown	Het
Mcoln1	A	G	8: 3,505,923	I73V	probably damaging	Het
Mycbp2	G	T	14: 103,219,979	T1627K	probably benign	Het
Myh8	A	G	11: 67,286,258	E412G	probably damaging	Het
Myo9a	T	A	9: 59,871,072	D1370E	probably benign	Het
Ndufaf5	A	G	2: 140,183,925	T135A	probably benign	Het
Neb	G	A	2: 52,271,039	Q2207*	probably null	Het
Nek3	T	C	8: 22,157,039	Y160C	probably damaging	Het
Olfr1371	G	C	11: 52,213,879	L37V	probably benign	Het
Olfr175-ps1	A	T	16: 58,824,106	I201N	possibly damaging	Het
Osbpl8	A	G	10: 111,269,418	I245V	probably benign	Het
Pcdh9	T	C	14: 93,887,643	I241V	probably benign	Het
Pcdhb12	A	G	18: 37,437,160	Q453R	probably benign	Het
Pcdhb2	A	G	18: 37,295,927	T318A	probably benign	Het
Prlr	T	A	15: 10,319,376		probably benign	Het
Ptprz1	C	T	6: 23,001,454	A1181V	possibly damaging	Het
Racgap1	C	A	15: 99,626,206	S440I	probably benign	Het
Rap1gap2	A	G	11: 74,435,699		probably null	Het
Rbm5	A	G	9: 107,754,146	V244A	probably damaging	Het
Rexo5	T	G	7: 119,819,499	I254R	probably benign	Het
Robo2	A	T	16: 73,985,933	S316T	probably benign	Het
Satb2	A	T	1: 56,845,619	V382E	probably damaging	Het
Scg2	C	T	1: 79,436,664	R114Q	probably benign	Het
Scube2	T	C	7: 109,800,650	D893G	possibly damaging	Het
Snrpn	T	C	7: 59,987,526	D14G	possibly damaging	Het
Spag17	A	G	3: 100,103,243	T2018A	probably benign	Het
Spata9	T	G	13: 75,967,882	F17V	possibly damaging	Het
Supt6	A	G	11: 78,212,746	Y1378H	possibly damaging	Het
Thsd7b	T	C	1: 129,430,915	S29P	possibly damaging	Het
Tmem59	A	T	4: 107,190,718		probably benign	Het
Tmem87a	A	G	2: 120,397,424	S81P	probably benign	Het
Togaram1	A	T	12: 64,982,450	E882D	possibly damaging	Het
Trbj2-4	T	A	6: 41,543,374		probably benign	Het
Trim42	T	A	9: 97,363,148	Y533F	probably benign	Het
Tssk5	C	T	15: 76,372,468	R280Q	probably benign	Het
Vmn1r82	A	G	7: 12,305,336	T179A	possibly damaging	Het
Yipf7	T	A	5: 69,519,361	Q145L	possibly 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
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
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

Predicted Primers

PCR Primer
(F):5'- AGTAGTTCAGATGGAGGTTAACGTCT -3'
(R):5'- ACCTTGCCATTTTACATTTTGGGAT -3'

Sequencing Primer
(F):5'- AGTCGAAGCTGGTGACTTCAG -3'
(R):5'- GCCATTTTACATTTTGGGATTGATTC -3'

Posted On

2015-09-25