Mutagenetix > Incidental Mutations

Incidental Mutation 'R3767:Kcnh5'

273077

Institutional Source

Beutler Lab

Gene Symbol

Kcnh5

Ensembl Gene

ENSMUSG00000034402

Gene Name

potassium voltage-gated channel, subfamily H (eag-related), member 5

Synonyms

MMRRC Submission

040744-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R3767 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

74897220-75177332 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 75087576 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 400 (Y400H)

Ref Sequence

ENSEMBL: ENSMUSP00000046864 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000042299]

AlphaFold

Q920E3

Predicted Effect

possibly damaging
Transcript: ENSMUST00000042299
AA Change: Y400H

PolyPhen 2 Score 0.814 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000046864
Gene: ENSMUSG00000034402
AA Change: Y400H

Domain	Start	End	E-Value	Type
PAS	14	86	8.97e0	SMART
PAC	92	134	6.64e-7	SMART
Pfam:Ion_trans	214	479	1.2e-37	PFAM
Pfam:Ion_trans_2	390	473	5e-14	PFAM
cNMP	550	668	2.48e-15	SMART
low complexity region	710	717	N/A	INTRINSIC
coiled coil region	907	944	N/A	INTRINSIC
low complexity region	953	968	N/A	INTRINSIC

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.0%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of voltage-gated potassium channels. Members of this family have diverse functions, including regulating neurotransmitter and hormone release, cardiac function, and cell volume. This protein is an outward-rectifying, noninactivating channel. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]
PHENOTYPE: Mice homozygous for a targeted gene disruption display thigmotaxis and abnormal startle reflex. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adipoq	T	A	16: 23,157,188	V134E	possibly damaging	Het
Agmat	A	G	4: 141,755,962	T236A	probably benign	Het
Anxa9	T	C	3: 95,301,114	N197S	probably benign	Het
Arhgap23	A	T	11: 97,476,106	D1071V	probably damaging	Het
Axdnd1	G	A	1: 156,380,858	T470M	probably damaging	Het
C3	C	T	17: 57,205,303	D1542N	possibly damaging	Het
Cdh3	A	T	8: 106,536,974		probably null	Het
Cep85l	A	T	10: 53,291,810	I624K	probably benign	Het
Cplx4	T	C	18: 65,969,927	T41A	probably benign	Het
Dchs1	A	T	7: 105,757,085	D2313E	possibly damaging	Het
Dock7	T	C	4: 98,970,829	T1409A	probably benign	Het
Exo1	C	T	1: 175,886,746	P73L	probably damaging	Het
Fgfrl1	C	A	5: 108,705,376	H197Q	possibly damaging	Het
Fsbp	G	A	4: 11,583,706	G135D	probably damaging	Het
Herc3	G	A	6: 58,862,988	R362H	probably benign	Het
Herc3	T	C	6: 58,876,602	F583L	probably benign	Het
Ifna7	T	C	4: 88,816,727	V167A	probably damaging	Het
Ighv1-54	A	G	12: 115,193,976	V17A	possibly damaging	Het
Kcnk16	T	A	14: 20,269,162	M1L	possibly damaging	Het
Kctd19	T	C	8: 105,396,480	T101A	probably benign	Het
Klf3	A	G	5: 64,827,217		probably null	Het
Krtap12-1	G	T	10: 77,720,895	V91L	probably benign	Het
Lonp1	T	C	17: 56,621,952	E270G	possibly damaging	Het
Mgl2	T	C	11: 70,135,833	L128P	probably damaging	Het
Mrc1	A	G	2: 14,319,170	Y1106C	probably damaging	Het
Mybpc1	G	T	10: 88,570,659		probably null	Het
Mypn	C	A	10: 63,125,707	L1035F	possibly damaging	Het
Neurl1a	T	C	19: 47,239,889	L58P	probably damaging	Het
Nlrp4e	G	T	7: 23,340,563	L770F	probably damaging	Het
Npas3	A	G	12: 54,069,074	*895W	probably null	Het
Nphs2	T	C	1: 156,313,038	I115T	probably damaging	Het
Olfr1378	A	G	11: 50,969,558	D180G	probably damaging	Het
Olfr936	T	A	9: 39,047,411	H47L	unknown	Het
Patj	A	T	4: 98,681,219	K1128*	probably null	Het
Pla2g5	C	G	4: 138,801,435	C70S	probably damaging	Het
Pole4	G	A	6: 82,622,114	R119C	possibly damaging	Het
Ppm1h	G	T	10: 122,904,122	L367F	probably damaging	Het
Ppp1r13b	G	T	12: 111,846,417	R123S	probably damaging	Het
Ptpru	C	T	4: 131,808,424	C414Y	probably damaging	Het
Pum2	T	A	12: 8,719,076	Y323*	probably null	Het
Rhot2	T	C	17: 25,840,547	D407G	probably benign	Het
Rreb1	C	T	13: 37,929,603	R313W	possibly damaging	Het
Rufy4	T	C	1: 74,147,663	C537R	probably damaging	Het
Scn11a	T	A	9: 119,784,049	D825V	probably damaging	Het
Selenoi	A	G	5: 30,256,189	Y141C	probably damaging	Het
Smcr8	A	G	11: 60,779,504	T493A	probably benign	Het
Tjp2	A	T	19: 24,100,826	I901N	probably benign	Het
Tns2	C	T	15: 102,108,934	R281C	probably damaging	Het
Ttc23l	T	A	15: 10,530,695	Y277F	possibly damaging	Het
Ugcg	C	T	4: 59,207,798	P46S	probably benign	Het
Wdr1	C	T	5: 38,540,539	G228R	probably damaging	Het
Xab2	T	C	8: 3,619,053	N31S	probably damaging	Het

Other mutations in Kcnh5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00470:Kcnh5	APN	12	74897796	missense	probably benign	0.00
IGL00675:Kcnh5	APN	12	75114189	critical splice donor site	probably null
IGL00688:Kcnh5	APN	12	74898397	missense	probably benign	0.01
IGL00721:Kcnh5	APN	12	75007676	missense	probably benign	0.32
IGL00793:Kcnh5	APN	12	75114346	missense	probably damaging	0.99
IGL00802:Kcnh5	APN	12	75007625	missense	possibly damaging	0.62
IGL00920:Kcnh5	APN	12	74976493	missense	probably damaging	1.00
IGL01595:Kcnh5	APN	12	74898327	missense	probably benign	0.05
IGL01642:Kcnh5	APN	12	74965169	missense	probably damaging	0.98
IGL01675:Kcnh5	APN	12	75114500	nonsense	probably null
IGL01733:Kcnh5	APN	12	74965192	missense	probably benign	0.02
IGL02006:Kcnh5	APN	12	74897548	missense	probably damaging	0.99
IGL02075:Kcnh5	APN	12	75087605	missense	probably benign	0.00
IGL02148:Kcnh5	APN	12	74897652	missense	possibly damaging	0.86
IGL02155:Kcnh5	APN	12	75176538	utr 5 prime	probably benign
IGL02304:Kcnh5	APN	12	74976697	missense	probably benign	0.01
IGL02957:Kcnh5	APN	12	75007665	missense	probably benign	0.01
R0305:Kcnh5	UTSW	12	75114397	missense	probably benign	0.00
R0470:Kcnh5	UTSW	12	75114414	missense	probably benign	0.22
R0553:Kcnh5	UTSW	12	75137673	missense	probably benign	0.00
R0557:Kcnh5	UTSW	12	75114549	missense	probably damaging	1.00
R0590:Kcnh5	UTSW	12	74965261	missense	probably damaging	1.00
R0697:Kcnh5	UTSW	12	74976531	missense	possibly damaging	0.80
R0699:Kcnh5	UTSW	12	74976531	missense	possibly damaging	0.80
R1512:Kcnh5	UTSW	12	75119937	missense	probably benign
R1728:Kcnh5	UTSW	12	75137691	missense	probably benign	0.18
R1739:Kcnh5	UTSW	12	75114229	missense	probably damaging	1.00
R1784:Kcnh5	UTSW	12	75137691	missense	probably benign	0.18
R1956:Kcnh5	UTSW	12	74897584	missense	probably benign	0.01
R1957:Kcnh5	UTSW	12	74897584	missense	probably benign	0.01
R2155:Kcnh5	UTSW	12	74898456	critical splice acceptor site	probably null
R2185:Kcnh5	UTSW	12	75130931	missense	possibly damaging	0.95
R2237:Kcnh5	UTSW	12	75007719	missense	probably benign	0.00
R2239:Kcnh5	UTSW	12	75007719	missense	probably benign	0.00
R2483:Kcnh5	UTSW	12	75114471	missense	probably damaging	1.00
R2655:Kcnh5	UTSW	12	75114540	missense	probably damaging	1.00
R3835:Kcnh5	UTSW	12	74898270	missense	probably benign
R4681:Kcnh5	UTSW	12	75007623	missense	probably benign	0.00
R4728:Kcnh5	UTSW	12	75007781	missense	probably damaging	1.00
R4965:Kcnh5	UTSW	12	74965151	missense	probably benign	0.11
R5127:Kcnh5	UTSW	12	74898084	missense	probably benign	0.17
R5267:Kcnh5	UTSW	12	75087416	missense	probably damaging	0.98
R5535:Kcnh5	UTSW	12	75130907	missense	possibly damaging	0.76
R5590:Kcnh5	UTSW	12	74976689	missense	probably benign	0.05
R5684:Kcnh5	UTSW	12	75137649	missense	probably damaging	1.00
R5747:Kcnh5	UTSW	12	74898420	missense	probably benign	0.04
R6123:Kcnh5	UTSW	12	75087591	missense	probably benign	0.01
R6545:Kcnh5	UTSW	12	75007658	missense	probably damaging	1.00
R6662:Kcnh5	UTSW	12	75007611	missense	probably damaging	1.00
R7117:Kcnh5	UTSW	12	75114445	missense	possibly damaging	0.87
R7161:Kcnh5	UTSW	12	74897709	missense	probably benign	0.10
R7437:Kcnh5	UTSW	12	75137643	critical splice donor site	probably null
R7557:Kcnh5	UTSW	12	75007625	missense	possibly damaging	0.62
R7566:Kcnh5	UTSW	12	75114392	nonsense	probably null
R7591:Kcnh5	UTSW	12	75007767	missense	probably benign	0.24
R7781:Kcnh5	UTSW	12	74976681	missense	probably damaging	0.99
R7816:Kcnh5	UTSW	12	74976683	missense	probably damaging	1.00
R8152:Kcnh5	UTSW	12	74897859	missense	possibly damaging	0.68
R8390:Kcnh5	UTSW	12	75087758	missense	probably damaging	1.00
R8560:Kcnh5	UTSW	12	74976605	missense	probably damaging	1.00
R9056:Kcnh5	UTSW	12	74898000	missense	probably benign	0.00
R9064:Kcnh5	UTSW	12	75130953	nonsense	probably null
R9283:Kcnh5	UTSW	12	74976533	missense	probably damaging	1.00
R9290:Kcnh5	UTSW	12	74976714	missense	probably benign	0.00
Z1088:Kcnh5	UTSW	12	74897761	missense	probably benign	0.00
Z1088:Kcnh5	UTSW	12	74965295	missense	possibly damaging	0.78
Z1177:Kcnh5	UTSW	12	75007797	missense	possibly damaging	0.90
Z1177:Kcnh5	UTSW	12	75114522	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TACAGCCGACCATCATCATG -3'
(R):5'- GCTCTTTAAAGGTGGTGCGC -3'

Sequencing Primer
(F):5'- TGGCCACTGAGAACATCTTC -3'
(R):5'- GTTGCTAGGAAACTGGACCATTACC -3'

Posted On

2015-03-25