Mutagenetix > Incidental Mutation

Incidental Mutation 'R1499:Kcnh3'

168732

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

039550-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1499 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

99122742-99140698 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 99137796 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 830 (D830E)

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: D830E

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000040548
Gene: ENSMUSG00000037579
AA Change: D830E

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

0.0898

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.4%
20x: 93.4%

Validation Efficiency

99% (83/84)

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: 81 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca9	T	A	11: 110,030,458 (GRCm39)	Y763F	probably benign	Het
Abcb10	C	T	8: 124,688,791 (GRCm39)	G495D	probably damaging	Het
Actl11	A	G	9: 107,808,682 (GRCm39)	T1002A	probably damaging	Het
Ampd1	T	A	3: 102,998,980 (GRCm39)	N378K	probably damaging	Het
Arhgap42	A	G	9: 9,033,587 (GRCm39)		probably benign	Het
Arhgap6	C	A	X: 167,579,499 (GRCm39)	P95T	possibly damaging	Het
Atg14	T	C	14: 47,798,102 (GRCm39)	N87S	probably benign	Het
Atp9b	C	T	18: 80,805,353 (GRCm39)	C735Y	probably damaging	Het
Atp9b	T	A	18: 80,822,122 (GRCm39)	T110S	probably benign	Het
Birc6	T	G	17: 74,919,314 (GRCm39)	L221R	probably damaging	Het
Ces1c	A	G	8: 93,854,233 (GRCm39)	F101L	probably benign	Het
Cfap91	A	G	16: 38,141,762 (GRCm39)	V390A	probably damaging	Het
Chsy1	T	C	7: 65,821,750 (GRCm39)	Y662H	probably damaging	Het
Cldn12	A	T	5: 5,557,900 (GRCm39)	F176I	probably benign	Het
Col5a2	A	G	1: 45,450,626 (GRCm39)	S374P	probably benign	Het
Col6a2	A	T	10: 76,439,544 (GRCm39)	V740E	probably damaging	Het
Cpne3	A	T	4: 19,526,336 (GRCm39)	I401K	probably damaging	Het
Cspp1	T	A	1: 10,159,191 (GRCm39)		probably null	Het
Ddn	G	A	15: 98,704,647 (GRCm39)	T215I	possibly damaging	Het
Dync1i1	T	C	6: 5,769,799 (GRCm39)		probably benign	Het
Dync2li1	T	C	17: 84,954,667 (GRCm39)		probably benign	Het
Eif2a	T	A	3: 58,445,005 (GRCm39)	L50*	probably null	Het
Elavl3	G	A	9: 21,929,875 (GRCm39)	A343V	probably damaging	Het
Fastkd1	T	C	2: 69,538,982 (GRCm39)		probably null	Het
Fgf8	C	A	19: 45,730,786 (GRCm39)	V80F	possibly damaging	Het
Fras1	A	T	5: 96,891,046 (GRCm39)	E2858D	probably benign	Het
Fshr	A	T	17: 89,293,529 (GRCm39)	L383Q	probably damaging	Het
Glb1	A	G	9: 114,246,171 (GRCm39)	K74R	probably benign	Het
Gmeb2	T	G	2: 180,897,019 (GRCm39)	M290L	probably benign	Het
Gnptg	A	G	17: 25,454,828 (GRCm39)		probably null	Het
Grik2	A	C	10: 49,008,871 (GRCm39)	S739A	probably damaging	Het
Grk2	T	A	19: 4,337,222 (GRCm39)	Q659L	probably benign	Het
Hdhd5	A	G	6: 120,491,473 (GRCm39)	V210A	probably damaging	Het
Hyal1	C	T	9: 107,455,091 (GRCm39)	L134F	probably damaging	Het
Itgb2	A	T	10: 77,381,987 (GRCm39)	K18N	possibly damaging	Het
Jam3	A	T	9: 27,017,701 (GRCm39)	I29K	possibly damaging	Het
Kcnmb4	T	C	10: 116,309,203 (GRCm39)	D75G	possibly damaging	Het
Kdm4b	A	G	17: 56,707,025 (GRCm39)	Y981C	probably damaging	Het
Klk1b26	C	A	7: 43,665,810 (GRCm39)	D207E	probably benign	Het
Kmt2a	G	T	9: 44,759,563 (GRCm39)	T762N	probably benign	Het
Kmt2d	A	G	15: 98,742,819 (GRCm39)		probably benign	Het
Lama4	T	C	10: 38,964,876 (GRCm39)	S1414P	possibly damaging	Het
Lce1f	C	G	3: 92,626,276 (GRCm39)	C127S	unknown	Het
Map7d1	A	G	4: 126,128,558 (GRCm39)		probably null	Het
Ninl	T	C	2: 150,822,096 (GRCm39)	D2G	possibly damaging	Het
Or2w1b	T	A	13: 21,300,303 (GRCm39)	M147K	probably benign	Het
Or5k3	A	G	16: 58,969,287 (GRCm39)	T25A	probably benign	Het
Or5m11b	C	T	2: 85,806,372 (GRCm39)	P262S	possibly damaging	Het
Or6n1	T	A	1: 173,916,813 (GRCm39)	L69*	probably null	Het
Or8g18	G	C	9: 39,149,547 (GRCm39)	P58A	probably benign	Het
Pax8	A	G	2: 24,319,608 (GRCm39)	Y381H	possibly damaging	Het
Pde7a	T	C	3: 19,314,408 (GRCm39)	I63V	possibly damaging	Het
Pgm3	A	T	9: 86,452,340 (GRCm39)	F40Y	probably benign	Het
Phrf1	G	T	7: 140,836,564 (GRCm39)	D78Y	probably damaging	Het
Plekhg1	C	T	10: 3,890,538 (GRCm39)		probably benign	Het
Prss59	A	T	6: 40,898,652 (GRCm39)	S199T	probably benign	Het
Pum1	T	C	4: 130,446,567 (GRCm39)	S209P	probably damaging	Het
Qtrt2	A	T	16: 43,689,337 (GRCm39)	F220L	probably benign	Het
Rgs9	A	G	11: 109,159,747 (GRCm39)		probably null	Het
Rin3	A	G	12: 102,335,018 (GRCm39)	T230A	unknown	Het
Ros1	A	T	10: 51,974,773 (GRCm39)	V1604E	possibly damaging	Het
Rpp14	A	G	14: 8,090,528 (GRCm38)	M151V	probably benign	Het
Sacs	T	A	14: 61,451,153 (GRCm39)	F4400I	possibly damaging	Het
Scamp1	C	T	13: 94,361,437 (GRCm39)	V148I	probably benign	Het
Slc13a5	A	G	11: 72,141,557 (GRCm39)	C428R	probably damaging	Het
Slc43a2	T	G	11: 75,453,733 (GRCm39)		probably null	Het
Smarcc2	T	A	10: 128,299,741 (GRCm39)	N135K	probably damaging	Het
Snx15	G	C	19: 6,172,094 (GRCm39)	S116R	probably damaging	Het
Stag1	A	G	9: 100,737,885 (GRCm39)	E414G	possibly damaging	Het
Stag1	A	T	9: 100,769,426 (GRCm39)		probably benign	Het
Tmem106a	T	A	11: 101,481,263 (GRCm39)	L257Q	possibly damaging	Het
Tnc	C	T	4: 63,882,991 (GRCm39)	D1968N	probably benign	Het
Trim42	A	G	9: 97,248,138 (GRCm39)	L186P	possibly damaging	Het
Tshb	T	A	3: 102,685,624 (GRCm39)		probably benign	Het
Ttn	T	A	2: 76,584,484 (GRCm39)	D13881V	probably damaging	Het
Uqcrc2	T	C	7: 120,239,506 (GRCm39)	V56A	probably benign	Het
Uty	G	A	Y: 1,197,228 (GRCm39)	T113I	probably damaging	Het
Vps13c	A	G	9: 67,864,787 (GRCm39)	E3032G	probably benign	Het
Wfdc9	T	G	2: 164,493,729 (GRCm39)		probably benign	Het
Zc3h7a	G	A	16: 10,980,520 (GRCm39)	T31I	probably damaging	Het
Zfp462	T	C	4: 55,060,046 (GRCm39)	S1191P	probably 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
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'- GGTCTCACCAGCCCCAGCA -3'
(R):5'- CGCAGCAATCAGGGAAGGCA -3'

Sequencing Primer
(F):5'- AGATGAGCCCTCCAGTCC -3'
(R):5'- aggagggggaagaagaagag -3'

Posted On

2014-04-13