Mutagenetix > Incidental Mutation

Incidental Mutation 'R4620:Kcnh3'

345271

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

042008-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4620 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

99122742-99140698 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 99131982 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Methionine at position 646 (V646M)

Ref Sequence

ENSEMBL: ENSMUSP00000040548 (fasta)

Gene Model

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

AlphaFold

Q9WVJ0

Predicted Effect

probably damaging
Transcript: ENSMUST00000041415
AA Change: V646M

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

SMART Domains

Protein: ENSMUSP00000040548
Gene: ENSMUSG00000037579
AA Change: V646M

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: ENSMUST00000230552

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000230973

Meta Mutation Damage Score

0.4878

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.2%
20x: 95.1%

Validation Efficiency

99% (80/81)

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: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310057M21Rik	A	T	7: 130,945,335 (GRCm39)	Y433*	probably null	Het
Apba2	C	T	7: 64,364,215 (GRCm39)	R331C	probably damaging	Het
Apod	T	C	16: 31,116,211 (GRCm39)	D173G	probably benign	Het
B3gnt5	A	T	16: 19,588,632 (GRCm39)	M284L	probably benign	Het
Birc6	A	C	17: 74,947,145 (GRCm39)	T2955P	probably benign	Het
Blvra	T	C	2: 126,938,885 (GRCm39)	I287T	probably damaging	Het
Capn5	T	C	7: 97,778,578 (GRCm39)	Y347C	probably damaging	Het
Cdcp2	A	G	4: 106,963,927 (GRCm39)	E259G	probably damaging	Het
Cdh2	A	G	18: 16,781,665 (GRCm39)	V85A	probably benign	Het
Cdk5rap2	A	G	4: 70,184,943 (GRCm39)	I1169T	probably benign	Het
Cenpj	A	G	14: 56,772,911 (GRCm39)	V1043A	probably damaging	Het
Cfap54	T	A	10: 92,805,619 (GRCm39)	H1497L	probably benign	Het
Chat	A	G	14: 32,175,775 (GRCm39)	M95T	probably damaging	Het
Csmd1	T	C	8: 16,052,694 (GRCm39)		probably null	Het
Csmd3	T	C	15: 47,449,149 (GRCm39)	E3615G	probably benign	Het
Cyp2c68	A	T	19: 39,701,006 (GRCm39)		probably null	Het
Dll1	C	T	17: 15,590,828 (GRCm39)	A332T	probably benign	Het
Dmrta1	A	T	4: 89,577,021 (GRCm39)	Q159L	probably benign	Het
Dnai3	A	T	3: 145,748,564 (GRCm39)	L850Q	probably damaging	Het
Eci3	A	T	13: 35,132,741 (GRCm39)	M212K	probably damaging	Het
Eml4	T	C	17: 83,768,962 (GRCm39)	F557L	probably benign	Het
Fat3	A	T	9: 15,908,190 (GRCm39)	V2604D	probably damaging	Het
Frem3	T	C	8: 81,395,586 (GRCm39)	V1871A	possibly damaging	Het
Gart	T	C	16: 91,422,321 (GRCm39)	N732S	probably damaging	Het
Gas2l2	T	C	11: 83,313,924 (GRCm39)	I463V	probably benign	Het
H2-M3	C	A	17: 37,583,310 (GRCm39)	T257K	probably damaging	Het
Hdgf	A	G	3: 87,821,883 (GRCm39)	N166S	possibly damaging	Het
Hoxb3	A	T	11: 96,236,599 (GRCm39)	N226Y	probably damaging	Het
Itgav	T	C	2: 83,586,246 (GRCm39)	Y169H	probably benign	Het
Kalrn	T	G	16: 33,849,075 (GRCm39)	I426L	probably damaging	Het
Kif6	T	C	17: 50,208,324 (GRCm39)	V735A	probably benign	Het
Krt1c	T	A	15: 101,726,026 (GRCm39)	I171F	probably damaging	Het
Megf8	G	A	7: 25,054,523 (GRCm39)	A1880T	possibly damaging	Het
Miox	A	T	15: 89,220,324 (GRCm39)	Y172F	probably benign	Het
Myo18a	G	A	11: 77,708,773 (GRCm39)	R48H	possibly damaging	Het
Ndufb7	T	C	8: 84,293,487 (GRCm39)	S14P	probably damaging	Het
Npepps	A	T	11: 97,129,070 (GRCm39)	H371Q	probably damaging	Het
Or10d5j	C	T	9: 39,868,205 (GRCm39)	V9M	probably damaging	Het
Or52e15	T	A	7: 104,645,830 (GRCm39)	I94F	probably damaging	Het
Or52e19	C	T	7: 102,959,165 (GRCm39)	T79I	probably benign	Het
Or8b12c	A	G	9: 37,716,115 (GRCm39)	T303A	probably benign	Het
Orc5	A	T	5: 22,734,174 (GRCm39)	D203E	probably damaging	Het
Pappa	A	G	4: 65,245,265 (GRCm39)	T1518A	probably benign	Het
Pde6a	A	G	18: 61,395,563 (GRCm39)	D602G	probably damaging	Het
Pnliprp2	G	A	19: 58,750,718 (GRCm39)	V136I	possibly damaging	Het
Postn	A	C	3: 54,284,414 (GRCm39)	D627A	probably damaging	Het
Prpf39	T	C	12: 65,089,337 (GRCm39)	V25A	probably benign	Het
Pxdc1	A	G	13: 34,836,297 (GRCm39)	I41T	probably damaging	Het
Rab11fip1	T	A	8: 27,644,243 (GRCm39)	E514V	probably damaging	Het
Rag1	A	T	2: 101,474,025 (GRCm39)	H372Q	probably damaging	Het
Ranbp1	A	G	16: 18,057,968 (GRCm39)		probably benign	Het
Rexo5	A	G	7: 119,426,526 (GRCm39)	I317V	probably benign	Het
Rragc	A	G	4: 123,818,622 (GRCm39)	Q279R	probably damaging	Het
Sbf1	A	G	15: 89,191,129 (GRCm39)	S187P	probably damaging	Het
Senp3	T	A	11: 69,567,944 (GRCm39)	Y432F	probably benign	Het
Slfn5	G	A	11: 82,852,478 (GRCm39)	C868Y	probably damaging	Het
Sorcs2	C	T	5: 36,194,838 (GRCm39)	A722T	probably benign	Het
Sptb	A	T	12: 76,630,581 (GRCm39)	C2244*	probably null	Het
Srbd1	A	T	17: 86,416,693 (GRCm39)	F488L	probably benign	Het
Sucnr1	A	G	3: 59,994,190 (GRCm39)	I239M	possibly damaging	Het
Themis2	A	G	4: 132,513,333 (GRCm39)	W298R	probably damaging	Het
Tmem168	T	G	6: 13,594,952 (GRCm39)	N37T	probably benign	Het
Tmem62	A	G	2: 120,826,845 (GRCm39)		probably benign	Het
Tmprss15	T	C	16: 78,818,358 (GRCm39)	D524G	probably damaging	Het
Trav5-4	G	T	14: 53,941,853 (GRCm39)	M75I	probably benign	Het
Trio	T	A	15: 27,871,257 (GRCm39)	H620L	probably damaging	Het
Ubap2	C	T	4: 41,233,698 (GRCm39)	G64E	probably damaging	Het
Usp32	C	A	11: 84,949,953 (GRCm39)		probably null	Het
Wdfy3	A	T	5: 102,054,011 (GRCm39)	F1603Y	probably damaging	Het
Xpo4	A	T	14: 57,867,782 (GRCm39)	L155Q	probably damaging	Het
Zbtb21	T	C	16: 97,751,092 (GRCm39)	T1092A	possibly damaging	Het
Zfp780b	A	T	7: 27,662,178 (GRCm39)	Y792*	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
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
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'- ATGAGCTTCGTGCAGACATCG -3'
(R):5'- GGCTCATCTTTGAACTTTGTCTAGAG -3'

Sequencing Primer
(F):5'- TTCGTGCAGACATCGCCATG -3'
(R):5'- AACTTTGTCTAGAGCTCTGGC -3'

Posted On

2015-09-25