Mutagenetix > Incidental Mutation

Incidental Mutation 'R4624:Kcnh3'

346454

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

041889-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4624 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

99122742-99140698 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 99124253 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 47 (D47E)

Ref Sequence

ENSEMBL: ENSMUSP00000040548 (fasta)

Gene Model

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

AlphaFold

Q9WVJ0

Predicted Effect

probably damaging
Transcript: ENSMUST00000041415
AA Change: D47E

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000040548
Gene: ENSMUSG00000037579
AA Change: D47E

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

Meta Mutation Damage Score

0.3259

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 95.1%

Validation Efficiency

93% (85/91)

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: 79 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
5730409E04Rik	A	G	4: 126,505,873 (GRCm39)	T134A	possibly damaging	Het
Adamts18	C	T	8: 114,499,800 (GRCm39)	W371*	probably null	Het
Adgb	C	A	10: 10,278,748 (GRCm39)	V267L	probably benign	Het
Akr1c13	G	T	13: 4,247,869 (GRCm39)	V214F	probably damaging	Het
Alkbh2	C	T	5: 114,262,287 (GRCm39)	E148K	probably damaging	Het
Ankrd52	A	G	10: 128,225,128 (GRCm39)	H863R	probably damaging	Het
Ap3b1	A	G	13: 94,619,734 (GRCm39)	R766G	unknown	Het
Apol7c	A	G	15: 77,410,595 (GRCm39)	F117S	probably damaging	Het
Bcr	A	T	10: 74,989,752 (GRCm39)	E716V	probably damaging	Het
Borcs6	T	C	11: 68,951,423 (GRCm39)	L267P	probably damaging	Het
Ccdc184	A	T	15: 98,066,638 (GRCm39)	N148Y	probably benign	Het
Ccdc50	A	G	16: 27,255,351 (GRCm39)	K223R	probably null	Het
Cd2	T	G	3: 101,194,747 (GRCm39)	K114Q	probably benign	Het
Cdh19	T	C	1: 110,859,981 (GRCm39)	K167E	probably benign	Het
Cep131	T	C	11: 119,961,658 (GRCm39)	E558G	probably damaging	Het
Cmya5	A	T	13: 93,200,059 (GRCm39)	V3423E	probably damaging	Het
Cnot6l	A	G	5: 96,225,070 (GRCm39)	V541A	probably benign	Het
Cntn5	A	T	9: 9,704,809 (GRCm39)	C663*	probably null	Het
Dnaaf4	A	G	9: 72,871,453 (GRCm39)	I238V	probably benign	Het
Dnah12	T	C	14: 26,456,913 (GRCm39)	I893T	possibly damaging	Het
Dop1a	G	A	9: 86,403,578 (GRCm39)	V129M	probably damaging	Het
Exoc6b	A	G	6: 84,831,791 (GRCm39)		probably benign	Het
Ext2	A	G	2: 93,533,545 (GRCm39)	V671A	probably benign	Het
Fcamr	T	G	1: 130,730,999 (GRCm39)	L28R	probably damaging	Het
Fer1l6	T	C	15: 58,425,554 (GRCm39)	I144T	probably damaging	Het
Frem1	A	G	4: 82,907,343 (GRCm39)	L839P	probably damaging	Het
Fscn2	A	T	11: 120,258,169 (GRCm39)	I364F	probably benign	Het
Gm10291	T	C	3: 78,824,581 (GRCm39)		noncoding transcript	Het
Gm29125	T	C	1: 80,362,676 (GRCm39)		noncoding transcript	Het
Grin2b	T	C	6: 135,710,823 (GRCm39)	M908V	probably damaging	Het
Helz2	T	C	2: 180,881,101 (GRCm39)	E436G	probably damaging	Het
Hfe	A	T	13: 23,890,061 (GRCm39)	C149*	probably null	Het
Hs1bp3	T	C	12: 8,386,357 (GRCm39)	V253A	probably benign	Het
Kat14	A	G	2: 144,246,140 (GRCm39)		probably benign	Het
Kcnd3	C	T	3: 105,566,082 (GRCm39)	A421V	probably damaging	Het
Kcp	A	G	6: 29,482,813 (GRCm39)	F1419L	possibly damaging	Het
Kera	A	G	10: 97,445,493 (GRCm39)	N284S	probably benign	Het
Klhl24	A	G	16: 19,938,873 (GRCm39)	D476G	probably damaging	Het
Krt79	T	A	15: 101,848,241 (GRCm39)	T137S	possibly damaging	Het
Lilrb4a	A	G	10: 51,367,584 (GRCm39)	Y42C	probably damaging	Het
Lnx1	C	T	5: 74,821,121 (GRCm39)		probably benign	Het
Map3k14	A	G	11: 103,121,927 (GRCm39)	Y497H	probably damaging	Het
Mmut	G	A	17: 41,257,946 (GRCm39)	E371K	probably damaging	Het
Nkx2-6	A	G	14: 69,412,375 (GRCm39)	Q181R	probably damaging	Het
Notch1	T	C	2: 26,368,093 (GRCm39)	K631R	possibly damaging	Het
Or5an10	C	T	19: 12,276,347 (GRCm39)	V50I	probably benign	Het
Pcdh9	T	A	14: 94,123,845 (GRCm39)	N775I	probably damaging	Het
Phkb	T	A	8: 86,575,341 (GRCm39)		probably benign	Het
Pick1	T	A	15: 79,130,666 (GRCm39)	I250N	probably damaging	Het
Plec	T	C	15: 76,059,335 (GRCm39)	E3556G	probably damaging	Het
Prex2	C	T	1: 11,359,489 (GRCm39)	Q1566*	probably null	Het
Ptgr2	T	G	12: 84,355,128 (GRCm39)	F287L	possibly damaging	Het
Ptprv	T	C	1: 135,051,869 (GRCm39)		noncoding transcript	Het
Rab5b	G	T	10: 128,519,130 (GRCm39)	H83Q	probably benign	Het
Ranbp6	A	T	19: 29,788,263 (GRCm39)	Y696*	probably null	Het
Rapgef3	G	T	15: 97,656,810 (GRCm39)	D318E	probably damaging	Het
Rmi1	A	G	13: 58,556,950 (GRCm39)	R400G	probably benign	Het
Rsrc1	T	C	3: 67,257,311 (GRCm39)	V241A	probably damaging	Het
Ryr2	A	T	13: 12,121,301 (GRCm39)	I11N	possibly damaging	Het
S100a11	T	C	3: 93,433,321 (GRCm39)	L55P	probably damaging	Het
Sec13	A	G	6: 113,706,652 (GRCm39)	S254P	probably benign	Het
Slc25a36	G	A	9: 96,961,178 (GRCm39)	T147I	probably damaging	Het
Spata31d1c	A	G	13: 65,184,411 (GRCm39)	E651G	probably benign	Het
Stox2	C	A	8: 47,646,851 (GRCm39)	R203L	probably damaging	Het
Tbc1d30	A	T	10: 121,132,691 (GRCm39)	D224E	probably damaging	Het
Tdrd6	A	G	17: 43,936,881 (GRCm39)	L1389P	probably damaging	Het
Tmprss11b	T	C	5: 86,812,895 (GRCm39)	S134G	probably benign	Het
Tmtc2	A	T	10: 105,139,511 (GRCm39)	S672T	probably benign	Het
Tnnt1	G	A	7: 4,515,267 (GRCm39)		probably benign	Het
Tpst2	A	G	5: 112,456,162 (GRCm39)	M234V	probably damaging	Het
Ttbk2	T	C	2: 120,603,804 (GRCm39)	D208G	probably benign	Het
Ube2c	A	G	2: 164,614,093 (GRCm39)	N143S	possibly damaging	Het
Unc45b	T	A	11: 82,816,835 (GRCm39)	M425K	probably benign	Het
Uvssa	G	A	5: 33,547,300 (GRCm39)	E289K	possibly damaging	Het
Vmn2r11	T	A	5: 109,200,101 (GRCm39)	R451W	probably damaging	Het
Vmn2r45	T	C	7: 8,484,341 (GRCm39)	Y488C	probably damaging	Het
Vmn2r55	T	A	7: 12,404,627 (GRCm39)	I259F	possibly damaging	Het
Wdfy3	C	T	5: 102,031,949 (GRCm39)	R2277Q	possibly damaging	Het
Wdr64	T	G	1: 175,599,829 (GRCm39)	M111R	probably benign	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
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'- TGCTAAGCCTCATTCATGAACC -3'
(R):5'- AGGTAAATTGGTGCCACGGTG -3'

Sequencing Primer
(F):5'- GTCATGACCAGCATACACAGCTTC -3'
(R):5'- TGGTGCCACGGTGCCTTAC -3'

Posted On

2015-09-25