Mutagenetix > Incidental Mutations

Incidental Mutation 'R0470:Kcnh5'

41812

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

038670-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0470 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

74897220-75177332 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 75114414 bp

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 240 (T240I)

Ref Sequence

ENSEMBL: ENSMUSP00000046864 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000042299
AA Change: T240I

PolyPhen 2 Score 0.225 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000046864
Gene: ENSMUSG00000034402
AA Change: T240I

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

0.1067

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.3%
20x: 93.0%

Validation Efficiency

98% (55/56)

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: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A730017C20Rik	C	T	18: 59,075,639	R120C	probably damaging	Het
Ahnak	T	G	19: 9,008,967	D2538E	probably benign	Het
Akr1c13	T	A	13: 4,198,501	L235H	probably damaging	Het
Ank	G	A	15: 27,571,635	C331Y	probably damaging	Het
Ankrd12	T	C	17: 65,986,134	E768G	probably benign	Het
Atm	A	T	9: 53,460,966	V2172E	probably damaging	Het
Atp10b	T	A	11: 43,203,039	L470Q	possibly damaging	Het
Bcl2	G	A	1: 106,712,562	R107C	probably damaging	Het
Cdadc1	A	T	14: 59,573,841		probably benign	Het
Cfhr2	A	T	1: 139,821,779	V155E	probably damaging	Het
Chp1	C	T	2: 119,560,763	R34C	probably damaging	Het
Cilp2	A	T	8: 69,885,405	V192E	possibly damaging	Het
Cyth1	T	C	11: 118,132,248		probably benign	Het
Dnah8	T	A	17: 30,708,540		probably benign	Het
Gja3	T	C	14: 57,036,427	T163A	probably damaging	Het
Gsdmcl1	C	T	15: 63,850,431		noncoding transcript	Het
Herc6	C	T	6: 57,619,452	T459M	probably damaging	Het
Hexb	A	G	13: 97,177,999	L412P	probably damaging	Het
Il17ra	T	G	6: 120,481,806	D639E	probably benign	Het
Lef1	T	C	3: 131,112,826		probably benign	Het
Lilrb4a	T	A	10: 51,494,827	N282K	possibly damaging	Het
Mbnl2	A	T	14: 120,404,650	H342L	probably damaging	Het
Nipal3	A	G	4: 135,447,372	V356A	probably damaging	Het
Olfr441	C	G	6: 43,116,624	A294G	probably null	Het
Olfr640	A	T	7: 104,021,670	I216N	probably damaging	Het
Plekha6	G	A	1: 133,272,307	R208Q	probably benign	Het
Prkar1b	A	G	5: 139,050,749	I82T	probably damaging	Het
Prrc1	C	T	18: 57,363,397	T140M	probably damaging	Het
Psg22	A	C	7: 18,719,664	S95R	probably damaging	Het
Ptk6	T	C	2: 181,195,939	T396A	probably benign	Het
Ptov1	A	G	7: 44,864,811	S9P	probably damaging	Het
Scin	A	C	12: 40,073,292		probably benign	Het
Sec13	T	C	6: 113,740,632		probably benign	Het
Setd1a	G	A	7: 127,785,057		probably benign	Het
Sf3a2	G	A	10: 80,804,554		probably benign	Het
Shmt1	T	C	11: 60,792,963	Y341C	possibly damaging	Het
Slc27a4	T	A	2: 29,804,185	L7Q	probably benign	Het
Slc41a2	T	C	10: 83,316,222	M130V	possibly damaging	Het
Sorcs3	T	C	19: 48,797,517		probably null	Het
Tex24	C	T	8: 27,344,908	R155*	probably null	Het
Tgfb1	T	A	7: 25,687,930		probably benign	Het
Tmc5	A	G	7: 118,639,931	D349G	possibly damaging	Het
Trappc13	C	T	13: 104,161,004	V131I	possibly damaging	Het
Trim66	A	G	7: 109,457,542		probably benign	Het
Tspoap1	T	C	11: 87,776,162	S1027P	probably damaging	Het
Usp34	C	T	11: 23,436,001	H2143Y	possibly damaging	Het
Vmn1r179	A	C	7: 23,928,393	Y3S	probably benign	Het
Vmn1r231	G	A	17: 20,890,003	Q217*	probably null	Het
Vmn1r62	T	A	7: 5,676,067	L249*	probably null	Het
Vmn1r71	G	C	7: 10,748,092	S223C	possibly damaging	Het
Vmn2r109	T	C	17: 20,552,886	Q491R	probably benign	Het
Vwf	G	A	6: 125,628,428	V925M	possibly damaging	Het
Wisp1	A	G	15: 66,917,378	I238V	probably benign	Het
Zbtb6	A	C	2: 37,429,493	L141W	probably damaging	Het
Zranb1	G	T	7: 132,982,771	L615F	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
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
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
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'- TCAGCCTAAAGTCTTGGAGGAAAACAC -3'
(R):5'- CTTCAGAGGCGTCCCAACTGTTTAT -3'

Sequencing Primer
(F):5'- aaaaaaCAAAACAAAACGATTATGGC -3'
(R):5'- ACACTGTTGCTTTCTTTTAGGTGC -3'

Posted On

2013-05-23