Mutagenetix > Incidental Mutation

Incidental Mutation 'R4869:Kcnh3'

376455

Institutional Source

Beutler Lab

Gene Symbol

Kcnh3

Ensembl Gene

ENSMUSG00000037579

Gene Name

potassium voltage-gated channel, subfamily H (eag-related), member 3

Synonyms

Melk2, C030044P22Rik, Elk2, ether a go-go like

MMRRC Submission

042479-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4869 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

99122742-99140698 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 99139913 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Leucine at position 933 (S933L)

Ref Sequence

ENSEMBL: ENSMUSP00000040548 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000041190] [ENSMUST00000041415] [ENSMUST00000163506]

AlphaFold

Q9WVJ0

Predicted Effect

probably benign
Transcript: ENSMUST00000041190

SMART Domains

Protein: ENSMUSP00000043901
Gene: ENSMUSG00000037570

Domain	Start	End	E-Value	Type
low complexity region	44	57	N/A	INTRINSIC
low complexity region	81	113	N/A	INTRINSIC
Pfam:MCRS_N	134	331	5.7e-98	PFAM
FHA	362	419	2.04e-6	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000041415
AA Change: S933L

PolyPhen 2 Score 0.061 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000040548
Gene: ENSMUSG00000037579
AA Change: S933L

Domain	Start	End	E-Value	Type
PAS	20	88	3.94e0	SMART
PAC	94	136	9.92e-6	SMART
low complexity region	148	159	N/A	INTRINSIC
Pfam:Ion_trans	224	523	3.8e-34	PFAM
Pfam:Ion_trans_2	453	517	1e-12	PFAM
cNMP	593	708	2.04e-16	SMART
low complexity region	781	800	N/A	INTRINSIC
low complexity region	857	872	N/A	INTRINSIC
coiled coil region	886	918	N/A	INTRINSIC
low complexity region	977	993	N/A	INTRINSIC
low complexity region	1022	1035	N/A	INTRINSIC
low complexity region	1054	1062	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000163506

SMART Domains

Protein: ENSMUSP00000131407
Gene: ENSMUSG00000037570

Domain	Start	End	E-Value	Type
low complexity region	31	44	N/A	INTRINSIC
low complexity region	68	100	N/A	INTRINSIC
Pfam:MCRS_N	121	318	2.4e-97	PFAM
FHA	349	406	2.04e-6	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000229143

Predicted Effect

probably benign
Transcript: ENSMUST00000229399

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000229656

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000230444

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000230552

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000230973

Meta Mutation Damage Score

0.0683

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 97.0%
20x: 94.3%

Validation Efficiency

99% (102/103)

MGI Phenotype

FUNCTION: The protein encoded by this gene is a voltage-gated potassium channel alpha subunit predominantly expressed in the forebrain. An increase in cognitive function was observed when this gene was knocked out, while deletion of the gene resulted in hippocampal hyperexcitability and epilepsy. [provided by RefSeq, Sep 2015]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit abnormal long term object recognition memory, spatial reference memory, spatial working memory, and long term potentiation. Mice homozygous for a different knock-out allele exhibit neuron hyperexcitability and seizures. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 93 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700017B05Rik	C	A	9: 57,161,488 (GRCm39)	K943N	probably damaging	Het
Abca13	G	A	11: 9,265,434 (GRCm39)		probably null	Het
Ankub1	A	G	3: 57,597,751 (GRCm39)	L73P	probably damaging	Het
Birc6	A	G	17: 74,893,007 (GRCm39)	I982V	probably benign	Het
Cabyr	G	T	18: 12,884,875 (GRCm39)	*454L	probably null	Het
Ccdc57	C	T	11: 120,794,344 (GRCm39)		probably null	Het
Cd209c	A	G	8: 3,994,077 (GRCm39)	F128L	probably benign	Het
Cdh23	A	T	10: 60,212,713 (GRCm39)	I1566N	probably damaging	Het
Cdon	T	C	9: 35,364,200 (GRCm39)	V106A	possibly damaging	Het
Cebpa	G	T	7: 34,819,246 (GRCm39)	G135C	probably damaging	Het
Cfap65	A	G	1: 74,958,420 (GRCm39)	S896P	probably benign	Het
Ciz1	T	C	2: 32,254,247 (GRCm39)	S63P	probably damaging	Het
Clybl	G	A	14: 122,621,618 (GRCm39)	V269M	probably damaging	Het
Ctnnb1	G	T	9: 120,782,060 (GRCm39)	V358L	possibly damaging	Het
Cwh43	G	T	5: 73,586,016 (GRCm39)		probably null	Het
Cyp2d10	G	A	15: 82,287,967 (GRCm39)	R379C	probably benign	Het
Dab2ip	C	A	2: 35,610,049 (GRCm39)	R727S	probably damaging	Het
Dmrt1	T	A	19: 25,483,219 (GRCm39)	M1K	probably null	Het
Dock1	A	T	7: 134,335,800 (GRCm39)	I65F	probably damaging	Het
Ercc2	T	C	7: 19,120,732 (GRCm39)	V155A	probably damaging	Het
Exph5	A	C	9: 53,287,539 (GRCm39)	D1540A	possibly damaging	Het
Fat3	T	A	9: 16,288,773 (GRCm39)	H250L	probably damaging	Het
Fbxw10	C	A	11: 62,753,557 (GRCm39)	A517E	probably damaging	Het
Furin	A	T	7: 80,046,727 (GRCm39)	N176K	probably damaging	Het
Gabrb3	A	G	7: 57,442,207 (GRCm39)		probably benign	Het
Gabrg2	A	T	11: 41,811,231 (GRCm39)	S305T	probably damaging	Het
Gas6	G	T	8: 13,525,086 (GRCm39)	S299R	possibly damaging	Het
Gga3	G	T	11: 115,477,111 (GRCm39)		probably benign	Het
Gle1	A	G	2: 29,826,032 (GRCm39)	E37G	possibly damaging	Het
Gm7964	A	G	7: 83,405,350 (GRCm39)	D80G	possibly damaging	Het
Gne	C	T	4: 44,055,204 (GRCm39)		probably null	Het
Grid2	G	T	6: 64,406,724 (GRCm39)	G695W	probably damaging	Het
H2-M10.6	A	T	17: 37,123,425 (GRCm39)	M40L	probably benign	Het
Hectd4	G	T	5: 121,460,735 (GRCm39)	V905L	possibly damaging	Het
Isyna1	C	A	8: 71,049,412 (GRCm39)	S441R	possibly damaging	Het
Knl1	T	C	2: 118,902,832 (GRCm39)	I1511T	possibly damaging	Het
Krt73	T	C	15: 101,704,833 (GRCm39)	E351G	probably damaging	Het
Lipo4	C	T	19: 33,478,953 (GRCm39)		probably null	Het
Llgl1	T	A	11: 60,598,036 (GRCm39)	L360*	probably null	Het
Map2k5	G	A	9: 63,229,525 (GRCm39)	R169*	probably null	Het
Muc19	A	T	15: 91,781,910 (GRCm39)		noncoding transcript	Het
Muc4	G	A	16: 32,754,836 (GRCm38)		probably benign	Het
Myh4	A	G	11: 67,143,490 (GRCm39)	E1074G	probably damaging	Het
Naip5	C	T	13: 100,381,639 (GRCm39)	G210E	probably damaging	Het
Nalcn	A	G	14: 123,837,296 (GRCm39)	S23P	probably benign	Het
Nepro	T	A	16: 44,550,536 (GRCm39)	M176K	probably damaging	Het
Nlrp6	G	A	7: 140,504,006 (GRCm39)	C704Y	probably damaging	Het
Notch1	A	G	2: 26,361,191 (GRCm39)	S1100P	probably benign	Het
Nrxn3	A	G	12: 88,762,352 (GRCm39)	E133G	possibly damaging	Het
Obi1	A	G	14: 104,716,252 (GRCm39)	I707T	probably damaging	Het
Parp9	T	C	16: 35,777,274 (GRCm39)	L406S	probably damaging	Het
Peak1	G	T	9: 56,134,876 (GRCm39)	A155D	probably benign	Het
Piezo1	G	A	8: 123,214,284 (GRCm39)	H1628Y	probably benign	Het
Piwil2	A	G	14: 70,632,811 (GRCm39)	V587A	probably benign	Het
Pkn2	A	G	3: 142,509,379 (GRCm39)	Y722H	probably damaging	Het
Plch2	A	T	4: 155,073,885 (GRCm39)	I834K	probably benign	Het
Pld1	A	G	3: 28,163,951 (GRCm39)	T795A	possibly damaging	Het
Plekhh1	A	G	12: 79,097,160 (GRCm39)	S103G	probably benign	Het
Ppl	T	C	16: 4,922,753 (GRCm39)	Y246C	probably damaging	Het
Prpf40b	G	A	15: 99,207,726 (GRCm39)		probably benign	Het
Prr14l	A	G	5: 32,986,177 (GRCm39)	L1106P	probably damaging	Het
Ptbp3	T	A	4: 59,524,443 (GRCm39)	I28F	possibly damaging	Het
Ptrh2	A	T	11: 86,580,631 (GRCm39)	K83*	probably null	Het
Rai1	T	C	11: 60,077,588 (GRCm39)	S551P	probably damaging	Het
Rapgefl1	A	T	11: 98,741,935 (GRCm39)	Q633L	probably damaging	Het
Rb1cc1	T	C	1: 6,285,245 (GRCm39)		probably benign	Het
Rif1	T	A	2: 51,983,623 (GRCm39)		probably benign	Het
Rnf141	A	G	7: 110,424,557 (GRCm39)	Y101H	probably damaging	Het
Rttn	T	A	18: 89,061,138 (GRCm39)	L1102*	probably null	Het
Sall4	G	A	2: 168,597,637 (GRCm39)	S401F	probably damaging	Het
Saxo5	G	A	8: 3,537,148 (GRCm39)	S498N	probably damaging	Het
Sec11c	T	C	18: 65,934,541 (GRCm39)	I36T	probably benign	Het
Sel1l	A	G	12: 91,780,828 (GRCm39)		probably benign	Het
Setd1a	T	C	7: 127,396,776 (GRCm39)		probably benign	Het
Sez6l2	C	T	7: 126,561,014 (GRCm39)	P433L	probably benign	Het
Sgf29	T	C	7: 126,248,547 (GRCm39)		probably benign	Het
Slc47a1	A	G	11: 61,253,520 (GRCm39)	V305A	probably benign	Het
Slco1a8	T	C	6: 141,933,492 (GRCm39)	D431G	probably damaging	Het
Sun2	T	C	15: 79,612,587 (GRCm39)		probably benign	Het
Tecta	T	C	9: 42,286,830 (GRCm39)	S609G	probably benign	Het
Tmprss6	T	A	15: 78,327,880 (GRCm39)		probably null	Het
Tns1	T	C	1: 73,991,774 (GRCm39)	H968R	probably benign	Het
Tomm34	G	A	2: 163,896,637 (GRCm39)	A270V	probably damaging	Het
Tpo	T	C	12: 30,153,364 (GRCm39)	K330R	probably benign	Het
Ttn	T	A	2: 76,542,837 (GRCm39)	Y33383F	probably damaging	Het
Unc13c	G	T	9: 73,587,716 (GRCm39)	A1439D	probably benign	Het
Vcp	C	T	4: 42,993,691 (GRCm39)	R147H	probably benign	Het
Vps13d	A	G	4: 144,854,612 (GRCm39)	L2272P	probably damaging	Het
Wdfy3	A	G	5: 102,042,787 (GRCm39)	L1988P	probably damaging	Het
Wwc2	A	G	8: 48,373,713 (GRCm39)	F51S	probably damaging	Het
Zfp454	C	T	11: 50,763,980 (GRCm39)	C373Y	probably damaging	Het
Zfp853	A	T	5: 143,274,048 (GRCm39)	V473E	probably damaging	Het
Zfp959	A	T	17: 56,204,228 (GRCm39)	R85S	possibly damaging	Het

Other mutations in Kcnh3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00155:Kcnh3	APN	15	99,140,354 (GRCm39)	missense	possibly damaging	0.85
IGL00911:Kcnh3	APN	15	99,130,882 (GRCm39)	nonsense	probably null
IGL01099:Kcnh3	APN	15	99,137,617 (GRCm39)	missense	probably benign	0.02
IGL01350:Kcnh3	APN	15	99,139,873 (GRCm39)	missense	probably benign
IGL01375:Kcnh3	APN	15	99,124,874 (GRCm39)	nonsense	probably null
IGL01611:Kcnh3	APN	15	99,127,383 (GRCm39)	missense	probably benign	0.04
IGL01920:Kcnh3	APN	15	99,131,258 (GRCm39)	missense	probably benign	0.16
IGL02282:Kcnh3	APN	15	99,125,924 (GRCm39)	critical splice donor site	probably null
IGL02581:Kcnh3	APN	15	99,136,052 (GRCm39)	missense	possibly damaging	0.72
IGL02889:Kcnh3	APN	15	99,124,991 (GRCm39)	missense	probably null	0.82
R0427:Kcnh3	UTSW	15	99,131,180 (GRCm39)	missense	probably benign	0.22
R0532:Kcnh3	UTSW	15	99,130,844 (GRCm39)	missense	probably damaging	1.00
R0538:Kcnh3	UTSW	15	99,138,839 (GRCm39)	missense	probably benign	0.00
R0552:Kcnh3	UTSW	15	99,127,337 (GRCm39)	missense	probably damaging	1.00
R1235:Kcnh3	UTSW	15	99,139,984 (GRCm39)	splice site	probably null
R1290:Kcnh3	UTSW	15	99,125,001 (GRCm39)	splice site	probably null
R1499:Kcnh3	UTSW	15	99,137,796 (GRCm39)	missense	probably benign	0.00
R1517:Kcnh3	UTSW	15	99,136,090 (GRCm39)	missense	probably damaging	1.00
R1706:Kcnh3	UTSW	15	99,135,959 (GRCm39)	missense	possibly damaging	0.86
R1973:Kcnh3	UTSW	15	99,127,281 (GRCm39)	missense	probably damaging	1.00
R2285:Kcnh3	UTSW	15	99,139,873 (GRCm39)	missense	probably benign
R3196:Kcnh3	UTSW	15	99,131,862 (GRCm39)	missense	probably damaging	1.00
R3716:Kcnh3	UTSW	15	99,130,646 (GRCm39)	missense	possibly damaging	0.52
R4619:Kcnh3	UTSW	15	99,131,982 (GRCm39)	missense	probably damaging	1.00
R4620:Kcnh3	UTSW	15	99,131,982 (GRCm39)	missense	probably damaging	1.00
R4624:Kcnh3	UTSW	15	99,124,253 (GRCm39)	missense	probably damaging	1.00
R4701:Kcnh3	UTSW	15	99,139,826 (GRCm39)	missense	probably benign
R4853:Kcnh3	UTSW	15	99,139,970 (GRCm39)	missense	possibly damaging	0.56
R4991:Kcnh3	UTSW	15	99,130,637 (GRCm39)	missense	probably benign	0.00
R5004:Kcnh3	UTSW	15	99,124,383 (GRCm39)	nonsense	probably null
R5296:Kcnh3	UTSW	15	99,139,820 (GRCm39)	missense	probably null	0.92
R5317:Kcnh3	UTSW	15	99,125,822 (GRCm39)	missense	probably benign
R5338:Kcnh3	UTSW	15	99,140,275 (GRCm39)	nonsense	probably null
R5658:Kcnh3	UTSW	15	99,139,957 (GRCm39)	missense	possibly damaging	0.77
R5794:Kcnh3	UTSW	15	99,130,855 (GRCm39)	missense	probably benign	0.01
R5934:Kcnh3	UTSW	15	99,124,414 (GRCm39)	missense	possibly damaging	0.46
R6303:Kcnh3	UTSW	15	99,124,919 (GRCm39)	missense	probably benign	0.37
R6304:Kcnh3	UTSW	15	99,124,919 (GRCm39)	missense	probably benign	0.37
R6385:Kcnh3	UTSW	15	99,125,822 (GRCm39)	missense	probably benign
R6466:Kcnh3	UTSW	15	99,136,124 (GRCm39)	missense	probably damaging	1.00
R6640:Kcnh3	UTSW	15	99,139,649 (GRCm39)	missense	probably benign	0.08
R6879:Kcnh3	UTSW	15	99,136,048 (GRCm39)	missense	probably damaging	1.00
R6984:Kcnh3	UTSW	15	99,126,433 (GRCm39)	missense	probably benign	0.00
R7770:Kcnh3	UTSW	15	99,131,147 (GRCm39)	missense	probably damaging	1.00
R8354:Kcnh3	UTSW	15	99,127,211 (GRCm39)	missense	probably damaging	1.00
R8427:Kcnh3	UTSW	15	99,124,934 (GRCm39)	missense	probably benign	0.00
R8486:Kcnh3	UTSW	15	99,136,091 (GRCm39)	missense	probably damaging	1.00
R9080:Kcnh3	UTSW	15	99,139,667 (GRCm39)	missense	probably damaging	1.00
R9339:Kcnh3	UTSW	15	99,130,786 (GRCm39)	missense	probably damaging	1.00
RF006:Kcnh3	UTSW	15	99,137,809 (GRCm39)	critical splice donor site	probably null
X0028:Kcnh3	UTSW	15	99,139,981 (GRCm39)	missense	probably benign	0.01

Predicted Primers

PCR Primer
(F):5'- AGCCTGTCCTTTCCACAGAG -3'
(R):5'- TGGAGGTCCATAAAGCTGTGG -3'

Sequencing Primer
(F):5'- TGTCCTTTCCACAGAGAGCGG -3'
(R):5'- CCAAGGGGAGCTCTGAGATGC -3'

Posted On

2016-03-17