Mutagenetix > Incidental Mutations

Incidental Mutation 'R1517:Kcnh3'

167133

Institutional Source

Beutler Lab

Gene Symbol

Kcnh3

Ensembl Gene

ENSMUSG00000037579

Gene Name

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

Synonyms

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

MMRRC Submission

039563-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1517 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

99224861-99242817 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 99238209 bp

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 696 (Y696H)

Ref Sequence

ENSEMBL: ENSMUSP00000040548 (fasta)

Gene Model

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

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 damaging
Transcript: ENSMUST00000041415
AA Change: Y696H

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

SMART Domains

Protein: ENSMUSP00000040548
Gene: ENSMUSG00000037579
AA Change: Y696H

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: ENSMUST00000229656

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000230444

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000230552

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000230973

Meta Mutation Damage Score

0.7669

Coding Region Coverage

1x: 99.1%
3x: 98.2%
10x: 95.9%
20x: 91.9%

Validation Efficiency

100% (67/67)

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: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca8b	T	C	11: 109,971,814	K375R	possibly damaging	Het
Adrb2	T	C	18: 62,178,800	N318S	probably damaging	Het
Akap5	A	C	12: 76,329,262	E489D	possibly damaging	Het
Aldh7a1	T	A	18: 56,532,061	I385F	probably damaging	Het
Astn1	T	A	1: 158,579,576		probably benign	Het
Atp7b	T	A	8: 21,997,358	T1314S	probably damaging	Het
Bhmt2	C	A	13: 93,662,339	G325C	probably damaging	Het
Brpf1	T	A	6: 113,319,089	V781E	probably benign	Het
Cacna1c	T	A	6: 118,598,759	Y1860F	probably benign	Het
Ccdc7a	T	C	8: 129,061,681	T56A	probably damaging	Het
Cep78	A	G	19: 15,959,663	S560P	probably damaging	Het
Cnot1	G	A	8: 95,743,213	T1343I	probably benign	Het
Coq10b	T	C	1: 55,064,257	S65P	probably damaging	Het
Creld1	T	A	6: 113,489,784	C243S	probably damaging	Het
Cst12	A	T	2: 148,793,252	I121F	possibly damaging	Het
Cyp26a1	A	C	19: 37,698,860	E165A	probably benign	Het
Cyp2d12	T	G	15: 82,558,136	M273R	probably damaging	Het
Dnajb7	T	A	15: 81,407,456	S227C	probably damaging	Het
Evc	T	A	5: 37,319,035	Q390L	probably damaging	Het
F830016B08Rik	T	A	18: 60,300,898	L351*	probably null	Het
Fga	T	C	3: 83,031,838	S507P	probably benign	Het
Gba	A	T	3: 89,206,148	Y239F	probably damaging	Het
Golga2	C	A	2: 32,305,984	Y843*	probably null	Het
Gria4	C	A	9: 4,793,865	L64F	probably damaging	Het
Hectd3	A	G	4: 117,002,994	Y803C	probably damaging	Het
Hmcn1	T	C	1: 150,669,421	K2812E	probably damaging	Het
Il17b	T	G	18: 61,690,245	V50G	probably damaging	Het
Itga2b	A	T	11: 102,466,325	L243*	probably null	Het
Kank4	C	A	4: 98,779,029	V394L	possibly damaging	Het
Kat14	T	A	2: 144,373,791	D65E	probably benign	Het
Kctd19	C	A	8: 105,395,376	D180Y	probably damaging	Het
Klra8	A	C	6: 130,115,640	S233A	probably benign	Het
Masp2	A	T	4: 148,612,106	T387S	possibly damaging	Het
Midn	C	A	10: 80,154,123	T275N	probably damaging	Het
Mis18bp1	A	G	12: 65,133,813	F965L	probably benign	Het
Myo3a	G	T	2: 22,282,634	V186L	probably damaging	Het
Ncoa2	T	A	1: 13,165,057	N884I	probably benign	Het
Olfr1082	T	A	2: 86,594,604	T75S	probably damaging	Het
Olfr272	A	T	4: 52,911,502	C97*	probably null	Het
Olfr963	T	C	9: 39,669,720	I221T	probably damaging	Het
Osr2	T	C	15: 35,300,667	V123A	probably benign	Het
P4ha2	A	G	11: 54,117,645	H226R	probably benign	Het
Pcdhb16	T	A	18: 37,478,098	V37E	probably benign	Het
Pcdhb18	T	A	18: 37,489,620	M1K	probably null	Het
Pcsk1	T	A	13: 75,098,047	Y181*	probably null	Het
Pros1	G	T	16: 62,885,512	C63F	probably damaging	Het
Ranbp3l	T	A	15: 9,065,001	C353*	probably null	Het
Rev3l	T	C	10: 39,838,443	Y2388H	probably benign	Het
Rif1	GCCACCA	GCCA	2: 52,110,324		probably benign	Het
Rpl12-ps1	G	T	1: 36,958,377		noncoding transcript	Het
Rttn	T	C	18: 89,113,350	V1951A	probably benign	Het
Scn9a	G	A	2: 66,505,027		probably benign	Het
Sdk1	T	C	5: 142,127,836	F1546S	probably damaging	Het
Sh3glb2	C	T	2: 30,354,975	R71Q	probably damaging	Het
Slc30a6	T	C	17: 74,408,847	F101L	probably benign	Het
Snrpd1	T	C	18: 10,626,913	I60T	probably damaging	Het
Sox10	T	A	15: 79,159,178	E218D	probably benign	Het
Tekt3	C	A	11: 63,070,490	H162N	probably damaging	Het
Tnfsf13	T	C	11: 69,684,738	S246G	possibly damaging	Het
Trim10	T	A	17: 36,872,454	I214N	probably damaging	Het
Trp63	C	A	16: 25,889,253	D566E	probably damaging	Het
Uck2	T	C	1: 167,234,724	D156G	probably damaging	Het
Zfp386	T	A	12: 116,059,605	S314R	possibly damaging	Het
Zfp467	C	T	6: 48,438,236	R494H	probably damaging	Het
Zfp735	A	T	11: 73,710,644	D138V	probably benign	Het
Zfyve26	T	C	12: 79,252,151	E445G	probably damaging	Het

Other mutations in Kcnh3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00155:Kcnh3	APN	15	99242473	missense	possibly damaging	0.85
IGL00911:Kcnh3	APN	15	99233001	nonsense	probably null
IGL01099:Kcnh3	APN	15	99239736	missense	probably benign	0.02
IGL01350:Kcnh3	APN	15	99241992	missense	probably benign
IGL01375:Kcnh3	APN	15	99226993	nonsense	probably null
IGL01611:Kcnh3	APN	15	99229502	missense	probably benign	0.04
IGL01920:Kcnh3	APN	15	99233377	missense	probably benign	0.16
IGL02282:Kcnh3	APN	15	99228043	critical splice donor site	probably null
IGL02581:Kcnh3	APN	15	99238171	missense	possibly damaging	0.72
IGL02889:Kcnh3	APN	15	99227110	missense	probably null	0.82
R0427:Kcnh3	UTSW	15	99233299	missense	probably benign	0.22
R0532:Kcnh3	UTSW	15	99232963	missense	probably damaging	1.00
R0538:Kcnh3	UTSW	15	99240958	missense	probably benign	0.00
R0552:Kcnh3	UTSW	15	99229456	missense	probably damaging	1.00
R1235:Kcnh3	UTSW	15	99242103	splice site	probably null
R1290:Kcnh3	UTSW	15	99227120	splice site	probably null
R1499:Kcnh3	UTSW	15	99239915	missense	probably benign	0.00
R1706:Kcnh3	UTSW	15	99238078	missense	possibly damaging	0.86
R1973:Kcnh3	UTSW	15	99229400	missense	probably damaging	1.00
R2285:Kcnh3	UTSW	15	99241992	missense	probably benign
R3196:Kcnh3	UTSW	15	99233981	missense	probably damaging	1.00
R3716:Kcnh3	UTSW	15	99232765	missense	possibly damaging	0.52
R4619:Kcnh3	UTSW	15	99234101	missense	probably damaging	1.00
R4620:Kcnh3	UTSW	15	99234101	missense	probably damaging	1.00
R4624:Kcnh3	UTSW	15	99226372	missense	probably damaging	1.00
R4701:Kcnh3	UTSW	15	99241945	missense	probably benign
R4853:Kcnh3	UTSW	15	99242089	missense	possibly damaging	0.56
R4869:Kcnh3	UTSW	15	99242032	missense	probably benign	0.06
R4991:Kcnh3	UTSW	15	99232756	missense	probably benign	0.00
R5004:Kcnh3	UTSW	15	99226502	nonsense	probably null
R5296:Kcnh3	UTSW	15	99241939	missense	probably null	0.92
R5317:Kcnh3	UTSW	15	99227941	missense	probably benign
R5338:Kcnh3	UTSW	15	99242394	nonsense	probably null
R5658:Kcnh3	UTSW	15	99242076	missense	possibly damaging	0.77
R5794:Kcnh3	UTSW	15	99232974	missense	probably benign	0.01
R5934:Kcnh3	UTSW	15	99226533	missense	possibly damaging	0.46
R6303:Kcnh3	UTSW	15	99227038	missense	probably benign	0.37
R6304:Kcnh3	UTSW	15	99227038	missense	probably benign	0.37
R6385:Kcnh3	UTSW	15	99227941	missense	probably benign
R6466:Kcnh3	UTSW	15	99238243	missense	probably damaging	1.00
R6640:Kcnh3	UTSW	15	99241768	missense	probably benign	0.08
R6879:Kcnh3	UTSW	15	99238167	missense	probably damaging	1.00
R6984:Kcnh3	UTSW	15	99228552	missense	probably benign	0.00
R7770:Kcnh3	UTSW	15	99233266	missense	probably damaging	1.00
R8354:Kcnh3	UTSW	15	99229330	missense	probably damaging	1.00
R8427:Kcnh3	UTSW	15	99227053	missense	probably benign	0.00
R8486:Kcnh3	UTSW	15	99238210	missense	probably damaging	1.00
RF006:Kcnh3	UTSW	15	99239928	critical splice donor site	probably null
X0028:Kcnh3	UTSW	15	99242100	missense	probably benign	0.01

Predicted Primers

PCR Primer
(F):5'- AGCCAGTGTTTTGCCCTTGGAAG -3'
(R):5'- GCACAAGCCCACAGCTCTTTGTTC -3'

Sequencing Primer
(F):5'- TCTACCCCAAGTGTGTGTAAGAC -3'
(R):5'- ACAGCTCTTTGTTCCCCCAG -3'

Posted On

2014-04-13