Mutagenetix > Incidental Mutation

Incidental Mutation 'R5296:Kcnh3'

405439

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

042879-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5296 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

99224861-99242817 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 99241939 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Leucine at position 902 (Q902L)

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 null
Transcript: ENSMUST00000041415
AA Change: Q902L

PolyPhen 2 Score 0.917 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000040548
Gene: ENSMUSG00000037579
AA Change: Q902L

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

0.1502

Coding Region Coverage

1x: 99.5%
3x: 98.9%
10x: 97.9%
20x: 96.6%

Validation Efficiency

100% (65/65)

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: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Apobr	A	C	7: 126,588,024	D89A	probably damaging	Het
Bhlhe41	C	T	6: 145,862,968		probably benign	Het
Cacna1s	G	A	1: 136,095,785	V674M	probably benign	Het
Cavin2	T	C	1: 51,289,870		probably null	Het
Cd300lb	T	C	11: 114,924,937	S106G	possibly damaging	Het
Ceacam15	A	G	7: 16,673,196	V132A	probably benign	Het
Ddi2	G	T	4: 141,684,765	Q279K	probably benign	Het
Dnah11	A	G	12: 117,883,416	V4304A	probably damaging	Het
Dnah2	C	T	11: 69,458,920	R2399Q	probably benign	Het
Dnase1l1	C	T	X: 74,277,038		probably null	Het
Epsti1	T	A	14: 77,904,650	H55Q	probably benign	Het
Flad1	T	C	3: 89,411,196	T17A	probably damaging	Het
Fzd2	C	T	11: 102,606,155	T475M	probably damaging	Het
Gemin5	C	A	11: 58,130,061	W1099L	probably damaging	Het
Gm8979	A	T	7: 106,081,848		noncoding transcript	Het
Gm9892	T	C	8: 52,196,929		noncoding transcript	Het
Gmeb2	A	G	2: 181,255,986		probably benign	Het
Grip1	A	G	10: 119,929,928	E55G	probably damaging	Het
Hltf	T	C	3: 20,108,112	S825P	probably damaging	Het
Kcnt2	C	T	1: 140,609,615	P1037L	probably damaging	Het
Klhl18	G	C	9: 110,436,127	N335K	possibly damaging	Het
Lama5	A	C	2: 180,193,801	L1253R	probably damaging	Het
Lancl2	T	G	6: 57,724,582	S230A	probably benign	Het
Lmcd1	A	G	6: 112,315,588	M134V	probably damaging	Het
Lrrc23	C	A	6: 124,774,482	A205S	probably damaging	Het
Mfsd13b	T	A	7: 120,991,738	I234N	probably damaging	Het
Mroh3	A	G	1: 136,196,323	S386P	probably damaging	Het
Mylk3	A	C	8: 85,355,431	F313V	possibly damaging	Het
Myo9b	A	T	8: 71,333,388	Q643L	possibly damaging	Het
Nacad	T	C	11: 6,605,745	S2G	unknown	Het
Olfr1269	A	T	2: 90,118,699	W300R	probably damaging	Het
Olfr136	C	T	17: 38,335,456	Q100*	probably null	Het
Olfr419	G	T	1: 174,250,756	T57K	possibly damaging	Het
Olfr908	T	C	9: 38,516,116	F28S	probably damaging	Het
Pkd1	T	C	17: 24,576,074	V2245A	probably damaging	Het
Pkdrej	G	A	15: 85,817,118	T1539I	possibly damaging	Het
Plch2	G	T	4: 154,989,999		probably null	Het
Pygm	G	A	19: 6,384,579	R34H	probably damaging	Het
Rgs12	T	C	5: 35,021,104		probably benign	Het
Ruvbl1	T	C	6: 88,485,908	I338T	probably damaging	Het
Sapcd1	T	A	17: 35,026,731	Q104L	probably damaging	Het
Satb2	T	C	1: 56,796,907	E575G	probably damaging	Het
Sema6b	T	A	17: 56,127,091		probably null	Het
Slc25a11	T	C	11: 70,646,185	N15D	probably damaging	Het
Slc26a6	C	T	9: 108,860,646	T526M	probably damaging	Het
Tcaf3	G	T	6: 42,587,510	T906K	possibly damaging	Het
Thbd	A	T	2: 148,406,983	C322S	probably damaging	Het
Traf2	A	G	2: 25,520,440	L399P	probably damaging	Het
Troap	T	A	15: 99,078,817	V274D	probably damaging	Het
Utrn	G	A	10: 12,401,355	T3406M	probably damaging	Het
Uts2	G	T	4: 150,999,051	A40S	possibly damaging	Het
Vmn2r109	T	A	17: 20,554,341	I251F	possibly damaging	Het
Vmn2r67	A	G	7: 85,137,022	S592P	probably damaging	Het
Vps13b	T	G	15: 35,876,413	W2797G	probably damaging	Het
Ythdf1	A	T	2: 180,912,188	M51K	probably damaging	Het
Zfp60	T	A	7: 27,738,530		probably benign	Het
Zfp882	T	A	8: 71,914,360	F344I	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
R1517:Kcnh3	UTSW	15	99238209	missense	probably damaging	1.00
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
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
R9080:Kcnh3	UTSW	15	99241786	missense	probably damaging	1.00
R9339:Kcnh3	UTSW	15	99232905	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'- CTGTCCTTTCCACAGAGAGC -3'
(R):5'- TCAAAACCGAACCTGCTGGG -3'

Sequencing Primer
(F):5'- TTTCCACAGAGAGCGGCCTG -3'
(R):5'- GGGCTGCAGGCAGTAGGAC -3'

Posted On

2016-07-22