Mutagenetix > Incidental Mutation

Incidental Mutation 'R7540:Kctd19'

583843

Institutional Source

Beutler Lab

Gene Symbol

Kctd19

Ensembl Gene

ENSMUSG00000051648

Gene Name

potassium channel tetramerisation domain containing 19

Synonyms

4922504H04Rik

MMRRC Submission

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.059) question?

Stock #

R7540 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

105382807-105413502 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 105386935 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Proline to Glutamine at position 702 (P702Q)

Ref Sequence

ENSEMBL: ENSMUSP00000050687 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000014927] [ENSMUST00000063071] [ENSMUST00000159286] [ENSMUST00000160191] [ENSMUST00000167294] [ENSMUST00000168196] [ENSMUST00000214056]

AlphaFold

Q562E2

Predicted Effect

probably benign
Transcript: ENSMUST00000014927

SMART Domains

Protein: ENSMUSP00000014927
Gene: ENSMUSG00000014782

Domain	Start	End	E-Value	Type
low complexity region	364	377	N/A	INTRINSIC
low complexity region	440	451	N/A	INTRINSIC
low complexity region	463	475	N/A	INTRINSIC
low complexity region	535	547	N/A	INTRINSIC
low complexity region	559	577	N/A	INTRINSIC
low complexity region	653	664	N/A	INTRINSIC
low complexity region	701	718	N/A	INTRINSIC
RhoGEF	729	900	3.15e-29	SMART
PH	914	1022	1.44e-5	SMART
low complexity region	1148	1169	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000063071
AA Change: P702Q

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000050687
Gene: ENSMUSG00000051648
AA Change: P702Q

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: ENSMUST00000159286

SMART Domains

Protein: ENSMUSP00000125556
Gene: ENSMUSG00000014782

Domain	Start	End	E-Value	Type
SCOP:d1aua_2	136	275	5e-9	SMART
Blast:SEC14	137	271	9e-8	BLAST

Predicted Effect

probably benign
Transcript: ENSMUST00000160191

SMART Domains

Protein: ENSMUSP00000125249
Gene: ENSMUSG00000014782

Domain	Start	End	E-Value	Type
low complexity region	295	308	N/A	INTRINSIC
low complexity region	371	382	N/A	INTRINSIC
low complexity region	394	406	N/A	INTRINSIC
low complexity region	466	478	N/A	INTRINSIC
low complexity region	490	508	N/A	INTRINSIC
low complexity region	584	595	N/A	INTRINSIC
low complexity region	632	649	N/A	INTRINSIC
RhoGEF	660	831	3.15e-29	SMART
PH	845	953	1.44e-5	SMART
low complexity region	1079	1100	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000167294
AA Change: P679Q

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000130831
Gene: ENSMUSG00000051648
AA Change: P679Q

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: ENSMUST00000214056

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.4%

Validation Efficiency

98% (48/49)

Allele List at MGI

Other mutations in this stock

Total: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930516K23Rik	T	C	7: 104,059,263	E113G	probably damaging	Het
Adamts8	A	G	9: 30,959,064	E650G	probably damaging	Het
Adgrg7	G	A	16: 56,750,429	T412M	probably damaging	Het
Ank2	C	T	3: 126,988,159	V7I	possibly damaging	Het
Bpifb1	G	A	2: 154,213,111	V308M	probably damaging	Het
C3	A	G	17: 57,206,220	S1476P	probably benign	Het
Dgkb	A	T	12: 37,981,790		probably benign	Het
Fmn1	A	G	2: 113,529,310		probably null	Het
Foxb1	G	A	9: 69,759,859	Q130*	probably null	Het
Gemin5	C	T	11: 58,130,402		probably null	Het
Ghr	T	A	15: 3,319,914	D594V	possibly damaging	Het
Gm10272	A	C	10: 77,706,626	M1L	unknown	Het
Gm11239	C	T	4: 73,668,411		probably benign	Het
Gpr161	G	A	1: 165,318,835	V447M	probably damaging	Het
Hspg2	T	A	4: 137,541,440	S2157T	possibly damaging	Het
Irs1	A	G	1: 82,288,002	V831A	not run	Het
Itga8	T	A	2: 12,111,037	I1014L	possibly damaging	Het
Iws1	T	A	18: 32,080,483	S321R	possibly damaging	Het
Man2c1	G	A	9: 57,140,275	D739N	probably damaging	Het
Mboat4	T	A	8: 34,124,024	L205Q	probably damaging	Het
Meis3	C	A	7: 16,177,493	Y38*	probably null	Het
Mroh7	G	T	4: 106,720,398	T361K	possibly damaging	Het
Myl6b	T	A	10: 128,496,280	K106*	probably null	Het
Naaa	T	A	5: 92,263,724	T241S	probably benign	Het
Neurog3	T	G	10: 62,133,977	I172S	probably benign	Het
Nub1	T	G	5: 24,701,529	I351R	probably damaging	Het
Olfr328	C	A	11: 58,551,631	V203L	possibly damaging	Het
Olfr402	A	T	11: 74,155,588	R145W	probably benign	Het
Olfr777	A	T	10: 129,269,134	F63Y	probably benign	Het
Osbp2	T	C	11: 3,717,944	K18E	probably damaging	Het
Pcdh8	A	T	14: 79,771,103	W7R	probably benign	Het
Pcsk7	G	T	9: 45,927,673		probably null	Het
Plin4	G	A	17: 56,104,883	T716I	probably damaging	Het
Prkcb	G	A	7: 122,568,134	V356I	probably damaging	Het
Pus7	G	A	5: 23,760,246	T304I	probably damaging	Het
Rmnd1	A	G	10: 4,403,989	V402A	probably damaging	Het
Slmap	T	C	14: 26,460,191	E329G	probably damaging	Het
Sytl3	T	C	17: 6,681,947		probably benign	Het
Tg	A	G	15: 66,689,927	I1087V	probably benign	Het
Tmco1	A	G	1: 167,326,003	T162A		Het
Tti1	G	A	2: 158,007,996	T441I	probably benign	Het
Tubgcp6	G	T	15: 89,102,323	Q1366K	possibly damaging	Het
Ush1g	T	C	11: 115,318,573	K265R	probably benign	Het
Zdhhc8	A	G	16: 18,227,810	V209A	probably damaging	Het
Zfp160	T	A	17: 21,025,660	Y157*	probably null	Het
Zfp423	A	T	8: 87,688,067	C1208S	possibly damaging	Het
Zfyve26	A	T	12: 79,268,676	V1342E	probably damaging	Het
Zmym1	A	T	4: 127,048,757	C613S	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
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'- ACTCTCTATGGTCTTAGCCGG -3'
(R):5'- TGATGCCAAAGACCCTCCTG -3'

Sequencing Primer
(F):5'- ATGGGGCAAGACTCACCTCTG -3'
(R):5'- GCCAAAGACCCTCCTGTCACC -3'

Posted On

2019-10-17