Mutagenetix > Incidental Mutations

Incidental Mutation 'R6662:Kcnh5'

528033

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

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6662 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

74897220-75177332 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 75007611 bp

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Tyrosine at position 520 (D520Y)

Ref Sequence

ENSEMBL: ENSMUSP00000046864 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000042299
AA Change: D520Y

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

SMART Domains

Protein: ENSMUSP00000046864
Gene: ENSMUSG00000034402
AA Change: D520Y

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

Meta Mutation Damage Score

0.8057

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.2%
20x: 94.8%

Validation Efficiency

100% (46/46)

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: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ablim1	A	G	19: 57,073,853		probably null	Het
Acox1	A	G	11: 116,175,323	Y418H	probably damaging	Het
Akr1b3	C	T	6: 34,310,004	V206M	possibly damaging	Het
Aldh3a1	G	A	11: 61,214,655	V196I	probably benign	Het
Aox3	A	G	1: 58,118,615	K44E	probably damaging	Het
Bad	T	A	19: 6,951,070		probably benign	Het
BC034090	G	T	1: 155,226,339	Q60K	possibly damaging	Het
Casp6	A	G	3: 129,912,226	T181A	probably benign	Het
Catsperg2	G	A	7: 29,719,513		probably benign	Het
Ccdc14	T	C	16: 34,690,794	L46P	probably damaging	Het
Ces1b	A	G	8: 93,064,069	L364S	probably benign	Het
Cfap45	T	C	1: 172,529,850	I15T	probably benign	Het
D730048I06Rik	C	A	9: 35,790,000	R6M	possibly damaging	Het
Dph5	G	A	3: 115,928,556	E228K	probably benign	Het
Fat4	G	T	3: 38,956,821	L2023F	possibly damaging	Het
Garem1	T	C	18: 21,148,247	N351D	probably benign	Het
Gm14124	G	A	2: 150,266,252		probably null	Het
Grm2	C	T	9: 106,648,053	A488T	probably benign	Het
Ifit3b	A	G	19: 34,611,937	E171G	probably damaging	Het
Il1rn	A	T	2: 24,336,875		probably null	Het
Itih5	A	T	2: 10,249,181	I748F	probably benign	Het
Mgat5	C	A	1: 127,469,237	H574N	probably damaging	Het
Moxd1	A	C	10: 24,284,760	D437A	probably damaging	Het
Mybpc2	A	G	7: 44,506,166	F888L	probably benign	Het
Ncs1	T	A	2: 31,287,360	L183Q	probably damaging	Het
Neto2	A	T	8: 85,663,215	D206E	probably damaging	Het
Omp	A	G	7: 98,145,339	L27P	probably damaging	Het
Oxsm	A	G	14: 16,242,287	S161P	probably benign	Het
Pde4b	A	G	4: 102,601,898	I381M	possibly damaging	Het
Pramel5	A	T	4: 144,273,105	N137K	probably benign	Het
Prss33	T	C	17: 23,833,960	S247G	probably damaging	Het
Rassf9	T	A	10: 102,546,038	L425Q	possibly damaging	Het
Setx	A	T	2: 29,158,114	D1909V	probably damaging	Het
Slc26a3	A	T	12: 31,457,346	K402*	probably null	Het
Slco1a6	G	A	6: 142,133,215	T118I	probably damaging	Het
Syne1	A	G	10: 5,128,416	L6769P	probably damaging	Het
Tas2r107	A	T	6: 131,659,489	V199D	possibly damaging	Het
Tchp	A	G	5: 114,720,015		probably null	Het
Trdn	A	T	10: 33,474,487	N684I	probably damaging	Het
Trio	G	T	15: 27,854,996	T700K	probably benign	Het
Ttn	C	T	2: 76,755,898	V20084I	probably benign	Het
Ubl3	A	T	5: 148,509,306	Y62*	probably null	Het
Uckl1	A	G	2: 181,573,260	Y267H	possibly damaging	Het
Zfp786	T	C	6: 47,826,986	N41D	probably damaging	Het
Zfp983	T	C	17: 21,662,085	S310P	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
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
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
Z1088:Kcnh5	UTSW	12	74897761	missense	probably benign	0.00
Z1088:Kcnh5	UTSW	12	74965295	missense	possibly damaging	0.78

Predicted Primers

PCR Primer
(F):5'- GATACTCCGCACCTTCTGAG -3'
(R):5'- AGCAGTGTAGTCAGGACTTCC -3'

Sequencing Primer
(F):5'- CACCTTCTGAGCACTCAATAAATGTG -3'
(R):5'- GCCTTAGTGAACGAGTGA -3'

Posted On

2018-07-24