Mutagenetix > Incidental Mutation

Incidental Mutation 'R7161:Kcnh5'

557599

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

045260-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7161 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

74897220-75177332 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 74897709 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Leucine at position 922 (Q922L)

Ref Sequence

ENSEMBL: ENSMUSP00000046864 (fasta)

Gene Model

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

AlphaFold

Q920E3

Predicted Effect

probably benign
Transcript: ENSMUST00000042299
AA Change: Q922L

PolyPhen 2 Score 0.099 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000046864
Gene: ENSMUSG00000034402
AA Change: Q922L

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: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.0%

Validation Efficiency

100% (75/75)

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: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930402H24Rik	C	A	2: 130,806,788	R258L	unknown	Het
Abca8a	T	A	11: 110,074,142	Q443L	probably benign	Het
Acad12	A	T	5: 121,607,373	M285K	probably damaging	Het
Afdn	T	A	17: 13,888,946	M1592K	possibly damaging	Het
Bpifb9b	A	T	2: 154,313,615	T345S	possibly damaging	Het
Bub1b	A	G	2: 118,626,053	E526G	probably damaging	Het
Car13	A	G	3: 14,645,208	D70G	probably benign	Het
Ccdc127	A	T	13: 74,352,877	L4F	probably damaging	Het
Ccng2	C	G	5: 93,273,343	S237R	probably benign	Het
Ccr10	A	G	11: 101,174,278	I142T	probably benign	Het
Cep126	C	T	9: 8,087,399	V1005M	probably benign	Het
Chil6	A	G	3: 106,394,412	I124T	probably benign	Het
Coq8a	A	G	1: 180,170,341		probably null	Het
Ctf2	T	A	7: 127,719,304	K174N	probably damaging	Het
Dapk1	T	C	13: 60,696,395	V76A	possibly damaging	Het
Disp1	A	G	1: 183,087,625	M1077T	possibly damaging	Het
Dnah9	T	A	11: 65,855,372	K3972*	probably null	Het
Dusp7	T	A	9: 106,368,915	S40T	unknown	Het
Emg1	T	C	6: 124,705,749	T88A	probably benign	Het
Fbxo5	A	G	10: 5,802,043	V190A	possibly damaging	Het
Fbxw20	T	G	9: 109,225,980	D167A	probably damaging	Het
Fes	A	T	7: 80,380,861	V562E	probably damaging	Het
Foxj1	C	G	11: 116,332,408	G190R	probably damaging	Het
Gatsl2	C	A	5: 134,135,190	T75N	probably damaging	Het
Gdf15	T	G	8: 70,631,342	S91R	possibly damaging	Het
Gm4846	C	A	1: 166,487,010	V355F	probably damaging	Het
Herc4	T	A	10: 63,308,415	Y776N	probably benign	Het
Hspg2	G	A	4: 137,514,719	R588H	probably damaging	Het
Igkv6-25	T	A	6: 70,215,778	Y56*	probably null	Het
Itpr1	C	T	6: 108,386,640	A741V	probably damaging	Het
Kbtbd8	T	A	6: 95,126,696	I519K	probably benign	Het
Kiss1r	T	C	10: 79,919,489	Y103H	probably damaging	Het
Knl1	A	G	2: 119,070,785	E989G	possibly damaging	Het
Lamc1	A	T	1: 153,226,454	L1466Q	probably damaging	Het
Lap3	C	T	5: 45,498,467	P138L	probably benign	Het
Lhx1	G	A	11: 84,519,872	P300S	probably damaging	Het
Mppe1	G	A	18: 67,229,771	A131V	probably benign	Het
Neb	A	T	2: 52,271,592	Y2063N	probably damaging	Het
Nfe2l1	A	G	11: 96,817,720	F740L	probably benign	Het
Nop10	A	G	2: 112,262,046	N8S	probably benign	Het
Olfr1097	A	C	2: 86,890,649	H175Q	probably benign	Het
Opalin	T	A	19: 41,069,935	T20S	possibly damaging	Het
Pask	C	T	1: 93,310,905	S1286N	probably benign	Het
Pcdhgc4	A	T	18: 37,815,663	E44V	probably damaging	Het
Pde1a	A	G	2: 79,865,214	M463T	probably benign	Het
Pde6a	A	T	18: 61,281,525	M714L	probably benign	Het
Pik3c2b	A	G	1: 133,106,112	E1618G	probably damaging	Het
Pou2f3	T	C	9: 43,139,363	N234S	probably damaging	Het
Ptprm	T	A	17: 66,809,627	T886S	probably benign	Het
Rab11fip3	C	A	17: 26,069,090	D30Y	probably benign	Het
Rassf10	A	T	7: 112,954,500	I103F	probably damaging	Het
Rfc4	A	G	16: 23,115,433	I206T	probably benign	Het
Rhcg	A	G	7: 79,617,441	F29S	probably damaging	Het
Sec11c	A	G	18: 65,812,732	I89V	probably benign	Het
Serac1	T	C	17: 6,065,076	D204G	probably damaging	Het
Serpinb3c	T	C	1: 107,273,162	N175S	probably null	Het
Slc25a19	C	T	11: 115,616,547	E250K	possibly damaging	Het
Slc9a8	A	T	2: 167,465,383	Y329F	possibly damaging	Het
Smagp	T	C	15: 100,636,245		probably benign	Het
Spats1	T	A	17: 45,449,169	Q268H	probably benign	Het
Spef2	T	C	15: 9,717,603	T219A	probably benign	Het
Spink13	A	G	18: 62,614,955	M11T	probably benign	Het
Susd1	T	C	4: 59,329,581	D669G	possibly damaging	Het
Svep1	A	G	4: 58,128,859	Y613H	possibly damaging	Het
Tcp10b	T	C	17: 13,081,746	*439Q	probably null	Het
Tmed2	T	A	5: 124,546,920	M133K	possibly damaging	Het
Trpv5	A	T	6: 41,660,536	Y370*	probably null	Het
Ttn	A	G	2: 76,812,244	S13316P	probably damaging	Het
Uap1l1	A	T	2: 25,363,280	M381K	probably damaging	Het
Wdr26	A	G	1: 181,203,130	Y200H	probably damaging	Het
Wdr78	G	A	4: 103,096,616	P129S	probably benign	Het
Zfhx4	A	T	3: 5,244,083	M790L	possibly damaging	Het
Zscan25	T	C	5: 145,286,441	L173P	probably benign	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
R3767:Kcnh5	UTSW	12	75087576	missense	possibly damaging	0.81
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
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
R9552:Kcnh5	UTSW	12	74976560	missense	probably benign	0.28
R9576:Kcnh5	UTSW	12	74897533	missense	probably benign	0.00
R9627:Kcnh5	UTSW	12	75114216	missense	probably damaging	0.99
R9645:Kcnh5	UTSW	12	75087417	missense	probably benign	0.32
R9650:Kcnh5	UTSW	12	74976519	missense	probably benign	0.32
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'- GTCAGATTCGGGTGACTCAG -3'
(R):5'- CTCAGAGAACAGTGTGACCAAG -3'

Sequencing Primer
(F):5'- GGCCTTGAGACACTAAAAATATCCTG -3'
(R):5'- CCCCTTAAGGAAAACGGATTCTTGTG -3'

Posted On

2019-06-26