Mutagenetix > Incidental Mutation

Incidental Mutation 'R0532:Kcnh3'

49283

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

038724-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0532 (G1)

Quality Score

203

Status

Validated

Chromosome

Chromosomal Location

99122742-99140698 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 99130844 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 487 (D487G)

Ref Sequence

ENSEMBL: ENSMUSP00000040548 (fasta)

Gene Model

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

AlphaFold

Q9WVJ0

Predicted Effect

probably damaging
Transcript: ENSMUST00000041415
AA Change: D487G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000040548
Gene: ENSMUSG00000037579
AA Change: D487G

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

noncoding transcript
Transcript: ENSMUST00000228983

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000230973

Meta Mutation Damage Score

0.6056

Coding Region Coverage

1x: 99.2%
3x: 98.4%
10x: 96.5%
20x: 93.2%

Validation Efficiency

100% (90/90)

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: 91 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921524L21Rik	A	T	18: 6,638,618 (GRCm39)	E339V	possibly damaging	Het
9230009I02Rik	A	T	11: 50,982,405 (GRCm39)		noncoding transcript	Het
9230112D13Rik	A	T	14: 34,234,054 (GRCm39)	I79K	unknown	Het
Adam25	C	T	8: 41,208,987 (GRCm39)	T751I	probably benign	Het
Adgrv1	C	A	13: 81,727,015 (GRCm39)	V446L	probably damaging	Het
Afap1	C	A	5: 36,125,944 (GRCm39)	A313D	possibly damaging	Het
Akap6	A	G	12: 52,934,766 (GRCm39)	T753A	probably benign	Het
Aldh16a1	G	T	7: 44,792,262 (GRCm39)	T730N	probably damaging	Het
Amfr	A	T	8: 94,725,736 (GRCm39)	M215K	probably damaging	Het
Apob	A	G	12: 8,066,188 (GRCm39)	R4386G	possibly damaging	Het
Arhgap45	A	T	10: 79,857,917 (GRCm39)	M217L	possibly damaging	Het
Baiap2l2	C	T	15: 79,168,276 (GRCm39)	E49K	possibly damaging	Het
Baz1a	C	T	12: 54,981,605 (GRCm39)	E350K	possibly damaging	Het
Bbx	A	T	16: 50,086,647 (GRCm39)	V83D	probably damaging	Het
Btaf1	T	C	19: 36,928,586 (GRCm39)		probably benign	Het
Cacna2d1	G	A	5: 16,567,271 (GRCm39)	E942K	probably benign	Het
Cad	T	C	5: 31,219,531 (GRCm39)		probably benign	Het
Ccdc96	A	G	5: 36,643,710 (GRCm39)	K572R	probably benign	Het
Cdc5l	G	A	17: 45,726,610 (GRCm39)	R321W	probably damaging	Het
Cep164	G	A	9: 45,721,124 (GRCm39)	R93*	probably null	Het
Cir1	A	G	2: 73,140,799 (GRCm39)		probably null	Het
Crocc	A	G	4: 140,757,558 (GRCm39)	S912P	possibly damaging	Het
Cwf19l2	T	C	9: 3,431,057 (GRCm39)	L463P	probably benign	Het
Cyp3a59	C	T	5: 146,033,463 (GRCm39)	Q200*	probably null	Het
Cyp4b1	G	T	4: 115,484,073 (GRCm39)	P303T	probably damaging	Het
Dcbld1	C	A	10: 52,193,173 (GRCm39)	T306K	probably benign	Het
Dgat2	A	G	7: 98,818,988 (GRCm39)	V56A	possibly damaging	Het
Dnajc16	A	C	4: 141,516,320 (GRCm39)	L16R	probably damaging	Het
Dnmt1	A	C	9: 20,829,852 (GRCm39)		probably benign	Het
Dus3l	A	G	17: 57,076,308 (GRCm39)	I528V	probably damaging	Het
Egflam	T	C	15: 7,263,718 (GRCm39)	D744G	probably benign	Het
Epb41	A	C	4: 131,706,106 (GRCm39)		probably benign	Het
Eri2	C	T	7: 119,385,206 (GRCm39)	V432I	probably benign	Het
Esyt2	A	G	12: 116,320,818 (GRCm39)		probably benign	Het
Extl3	A	T	14: 65,315,122 (GRCm39)	M20K	probably benign	Het
Fam32a	A	G	8: 72,976,063 (GRCm39)	Y103C	probably damaging	Het
Fat4	T	C	3: 39,035,870 (GRCm39)	V3174A	probably benign	Het
Fbxo40	T	A	16: 36,789,984 (GRCm39)	E375D	possibly damaging	Het
Frrs1	A	G	3: 116,676,813 (GRCm39)	T182A	probably benign	Het
Fry	A	G	5: 150,357,172 (GRCm39)		probably benign	Het
Fry	T	C	5: 150,402,226 (GRCm39)		probably benign	Het
Fsip2	A	G	2: 82,808,129 (GRCm39)	I1483V	probably benign	Het
Glra3	T	A	8: 56,578,111 (GRCm39)	D389E	probably benign	Het
Gpr3	A	T	4: 132,937,796 (GRCm39)	I292N	probably damaging	Het
Grina	T	C	15: 76,133,045 (GRCm39)	M230T	probably damaging	Het
Igkv11-125	G	A	6: 67,890,603 (GRCm39)	W16*	probably null	Het
Il18r1	T	C	1: 40,514,061 (GRCm39)	V89A	probably damaging	Het
Ino80	T	C	2: 119,212,464 (GRCm39)	E1286G	possibly damaging	Het
Iqch	G	A	9: 63,415,514 (GRCm39)		probably benign	Het
Itpr2	G	T	6: 146,013,898 (GRCm39)	Q2666K	probably damaging	Het
Kdm1a	A	G	4: 136,288,377 (GRCm39)	L402P	probably damaging	Het
Klhl10	T	G	11: 100,337,937 (GRCm39)		probably benign	Het
Krt39	T	C	11: 99,405,617 (GRCm39)	T428A	possibly damaging	Het
Mapk3	G	A	7: 126,362,558 (GRCm39)		probably benign	Het
Med13l	T	A	5: 118,897,188 (GRCm39)	S2089T	possibly damaging	Het
Mex3c	G	A	18: 73,723,124 (GRCm39)	D406N	possibly damaging	Het
Mki67	G	A	7: 135,299,893 (GRCm39)	R1714*	probably null	Het
Mmp9	C	A	2: 164,791,740 (GRCm39)	S211*	probably null	Het
Nat8f2	G	T	6: 85,844,784 (GRCm39)	Q193K	probably benign	Het
Omt2a	C	A	9: 78,220,187 (GRCm39)	A71S	possibly damaging	Het
Or10ak11	T	G	4: 118,686,897 (GRCm39)	T247P	probably damaging	Het
Or5ac22	T	C	16: 59,134,964 (GRCm39)	K269E	probably benign	Het
Pdgfra	G	A	5: 75,331,434 (GRCm39)	V315I	probably benign	Het
Pdgfrb	A	G	18: 61,216,337 (GRCm39)	D1065G	probably damaging	Het
Pfas	A	T	11: 68,893,455 (GRCm39)		probably benign	Het
Pramel5	T	C	4: 143,999,310 (GRCm39)	E259G	probably benign	Het
Prpf6	A	G	2: 181,264,004 (GRCm39)	Y222C	possibly damaging	Het
Rbck1	C	A	2: 152,166,250 (GRCm39)	Q229H	probably damaging	Het
Rdm1	T	A	11: 101,526,661 (GRCm39)	C278S	probably benign	Het
Sall1	T	C	8: 89,759,819 (GRCm39)	D95G	probably benign	Het
Scn1a	T	A	2: 66,148,167 (GRCm39)	D1126V	probably damaging	Het
Scn4a	C	T	11: 106,221,226 (GRCm39)	G811D	probably benign	Het
Sh2b1	A	G	7: 126,071,444 (GRCm39)	I247T	probably benign	Het
Shprh	C	A	10: 11,038,556 (GRCm39)	T437K	possibly damaging	Het
Slc13a4	A	T	6: 35,264,339 (GRCm39)		probably null	Het
Slc16a1	C	A	3: 104,560,734 (GRCm39)	Y346*	probably null	Het
Slc25a38	G	T	9: 119,949,772 (GRCm39)	A163S	probably damaging	Het
Slc6a12	G	A	6: 121,333,877 (GRCm39)	V238I	probably damaging	Het
Slc8b1	C	A	5: 120,657,736 (GRCm39)	D66E	probably damaging	Het
Snapin	A	G	3: 90,396,893 (GRCm39)	L106P	probably damaging	Het
Tas2r122	G	A	6: 132,688,791 (GRCm39)	S34F	possibly damaging	Het
Tiam2	A	G	17: 3,471,921 (GRCm39)	K521R	probably damaging	Het
Tmem81	C	G	1: 132,435,567 (GRCm39)	I124M	probably damaging	Het
Ttc3	T	C	16: 94,188,189 (GRCm39)		probably benign	Het
Uba1y	T	C	Y: 820,911 (GRCm39)	F31L	probably benign	Het
Ucp3	A	G	7: 100,131,186 (GRCm39)		probably benign	Het
Vcan	T	C	13: 89,851,891 (GRCm39)	E1023G	probably damaging	Het
Vmn2r45	A	G	7: 8,474,820 (GRCm39)	I736T	probably damaging	Het
Vps36	T	C	8: 22,708,261 (GRCm39)	F342L	probably benign	Het
Zc3hc1	A	G	6: 30,374,929 (GRCm39)		probably benign	Het
Zmym4	G	A	4: 126,792,194 (GRCm39)	Q596*	probably null	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
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
R4869:Kcnh3	UTSW	15	99,139,913 (GRCm39)	missense	probably benign	0.06
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'- ACCCCATTTTCAGGGATGCCAAC -3'
(R):5'- GTCTGGTGGATGGATCACCAAAGG -3'

Sequencing Primer
(F):5'- TTTCAGGGATGCCAACTAGCAC -3'
(R):5'- AGGTAGACCCTAGATCTCCAGTTG -3'

Posted On

2013-06-12