Mutagenetix > Incidental Mutation

Incidental Mutation 'R9429:Kctd19'

712816

Institutional Source

Beutler Lab

Gene Symbol

Kctd19

Ensembl Gene

ENSMUSG00000051648

Gene Name

potassium channel tetramerisation domain containing 19

Synonyms

4922504H04Rik

MMRRC Submission

Accession Numbers

Essential gene?

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

Stock #

R9429 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

106109439-106140134 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 106109652 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 930 (I930N)

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 damaging
Transcript: ENSMUST00000063071
AA Change: I930N

PolyPhen 2 Score 0.982 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000050687
Gene: ENSMUSG00000051648
AA Change: I930N

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 damaging
Transcript: ENSMUST00000167294
AA Change: I907N

PolyPhen 2 Score 0.969 (Sensitivity: 0.77; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000130831
Gene: ENSMUSG00000051648
AA Change: I907N

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

unknown
Transcript: ENSMUST00000168196
AA Change: H124Q

Predicted Effect

probably benign
Transcript: ENSMUST00000214056

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
5930422O12Rik	A	T	8: 33,919,165 (GRCm39)		probably benign	Het
Acte1	G	T	7: 143,434,902 (GRCm39)		probably null	Het
Adam7	G	C	14: 68,771,080 (GRCm39)	H15Q	probably null	Het
Adgrv1	A	T	13: 81,567,468 (GRCm39)	I5235N	probably damaging	Het
Adgrv1	A	C	13: 81,741,165 (GRCm39)	C100G	probably damaging	Het
Aebp1	A	G	11: 5,821,649 (GRCm39)	T1063A	probably benign	Het
Atmin	A	G	8: 117,670,307 (GRCm39)	R48G	probably benign	Het
Atxn10	A	G	15: 85,346,565 (GRCm39)	E441G	probably benign	Het
Catsper1	T	C	19: 5,389,755 (GRCm39)	V505A	possibly damaging	Het
Chd5	T	C	4: 152,447,364 (GRCm39)	V471A	probably damaging	Het
Cma2	A	G	14: 56,210,276 (GRCm39)	I110V	possibly damaging	Het
Cnst	A	C	1: 179,432,566 (GRCm39)	N243T	probably damaging	Het
Col15a1	A	T	4: 47,310,439 (GRCm39)	N1203I	probably damaging	Het
Col6a3	T	A	1: 90,731,585 (GRCm39)	H1556L	probably benign	Het
Crybg3	T	A	16: 59,375,556 (GRCm39)	K185N	probably benign	Het
Dnah1	G	A	14: 30,997,499 (GRCm39)	Q2620*	probably null	Het
Dusp10	A	C	1: 183,801,091 (GRCm39)	D286A	probably benign	Het
Erich6	A	G	3: 58,536,935 (GRCm39)	V252A	possibly damaging	Het
Fhod1	A	G	8: 106,057,139 (GRCm39)	L945P	probably damaging	Het
Foxh1	C	T	15: 76,553,442 (GRCm39)	R120Q	probably null	Het
Frmd4b	T	C	6: 97,279,252 (GRCm39)	D591G	probably damaging	Het
Gbe1	G	A	16: 70,292,203 (GRCm39)	V512I	probably benign	Het
Ghitm	A	G	14: 36,852,655 (GRCm39)	S142P	probably damaging	Het
Gldc	C	T	19: 30,091,172 (GRCm39)	A808T	possibly damaging	Het
Gm14496	C	T	2: 181,637,934 (GRCm39)	T336I	possibly damaging	Het
Ido2	T	C	8: 25,037,194 (GRCm39)	T171A	probably damaging	Het
Kctd2	T	C	11: 115,318,277 (GRCm39)	Y187H	probably damaging	Het
L3hypdh	T	C	12: 72,124,203 (GRCm39)	T246A	probably damaging	Het
Lama1	A	G	17: 68,118,449 (GRCm39)	M2554V		Het
Laptm5	A	G	4: 130,655,961 (GRCm39)	Y93C		Het
Mroh2b	T	A	15: 4,963,907 (GRCm39)	L833Q	probably damaging	Het
Ms4a12	T	C	19: 11,193,424 (GRCm39)	D187G	probably damaging	Het
Muc4	C	T	16: 32,576,098 (GRCm39)	T1866I	unknown	Het
Myo1a	G	T	10: 127,543,247 (GRCm39)	D168Y	probably damaging	Het
Nek1	C	T	8: 61,559,892 (GRCm39)	S1005L	probably benign	Het
Nrg1	T	A	8: 32,308,592 (GRCm39)	M523L	probably benign	Het
Nt5c2	T	A	19: 46,877,459 (GRCm39)	H494L	probably benign	Het
Oasl2	G	A	5: 115,043,040 (GRCm39)	V271I	probably benign	Het
Or13a1	T	G	6: 116,471,292 (GRCm39)	S241A	probably damaging	Het
Or52s1	C	T	7: 102,861,871 (GRCm39)	A268V	possibly damaging	Het
Or5e1	G	T	7: 108,354,412 (GRCm39)	M116I	probably damaging	Het
Per2	T	C	1: 91,351,489 (GRCm39)	T1006A	probably benign	Het
Phyhd1	C	A	2: 30,156,917 (GRCm39)	F19L	probably benign	Het
Pter	T	A	2: 12,985,112 (GRCm39)	D147E	probably benign	Het
Rps6ka1	A	C	4: 133,598,900 (GRCm39)	L90V	probably damaging	Het
Rrp15	A	T	1: 186,481,368 (GRCm39)	D46E	probably benign	Het
Ryr2	A	G	13: 11,809,459 (GRCm39)	F789L	probably damaging	Het
Sepsecs	T	C	5: 52,801,294 (GRCm39)	K456R	probably benign	Het
Septin11	G	A	5: 93,321,397 (GRCm39)		probably null	Het
Sowahb	T	C	5: 93,191,080 (GRCm39)	I546M	possibly damaging	Het
Spata31	C	A	13: 65,070,336 (GRCm39)	T828K	probably benign	Het
Sry	GCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTG	GCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTG	Y: 2,662,638 (GRCm39)		probably benign	Het
Ston1	A	G	17: 88,943,034 (GRCm39)	T147A	probably benign	Het
Tcf3	G	A	10: 80,252,436 (GRCm39)	P350S	probably benign	Het
Tek	A	G	4: 94,715,515 (GRCm39)	D402G	probably benign	Het
Themis3	T	C	17: 66,866,665 (GRCm39)	R192G	probably damaging	Het
Tmc1	T	A	19: 20,793,548 (GRCm39)	I538F	possibly damaging	Het
Trpc3	T	G	3: 36,705,777 (GRCm39)	I473L	probably benign	Het
Ttll2	A	T	17: 7,620,085 (GRCm39)	L4Q	probably damaging	Het
Urb2	T	A	8: 124,750,226 (GRCm39)	Y5*	probably null	Het
Vav3	T	A	3: 109,564,561 (GRCm39)	Y673*	probably null	Het
Vmn1r32	T	A	6: 66,530,237 (GRCm39)	T180S	probably benign	Het
Vmn1r90	A	T	7: 14,295,647 (GRCm39)	N150K	probably damaging	Het
Zbed6	A	C	1: 133,585,453 (GRCm39)	I628R	probably damaging	Het
Zfp1007	A	T	5: 109,824,334 (GRCm39)	L372*	probably null	Het
Zfp750	G	A	11: 121,404,693 (GRCm39)	R61C	probably damaging	Het
Zfp87	A	G	13: 74,520,703 (GRCm39)	I125T	probably damaging	Het
Zfta	T	C	19: 7,399,594 (GRCm39)	L447P	probably damaging	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
R1540:Kctd19	UTSW	8	106,114,511 (GRCm39)	missense	probably damaging	0.96
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
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'- ACCGTTGACTGGGCATATG -3'
(R):5'- AAGTGGATACGAGCTTCAGG -3'

Sequencing Primer
(F):5'- CCGTTGACTGGGCATATGCATTC -3'
(R):5'- TACGAGCTTCAGGGAGCAC -3'

Posted On

2022-05-16