Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02148:Kcnh5'

281872

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Kcnh5

Ensembl Gene

ENSMUSG00000034402

Gene Name

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

Synonyms

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02148

Quality Score

Status

Chromosome

Chromosomal Location

74943994-75224106 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 74944426 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 941 (L941P)

Ref Sequence

ENSEMBL: ENSMUSP00000046864 (fasta)

Gene Model

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

AlphaFold

Q920E3

Predicted Effect

possibly damaging
Transcript: ENSMUST00000042299
AA Change: L941P

PolyPhen 2 Score 0.857 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000046864
Gene: ENSMUSG00000034402
AA Change: L941P

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

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: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Akna	C	T	4: 63,300,716 (GRCm39)		probably benign	Het
AU040320	T	C	4: 126,733,469 (GRCm39)	V663A	possibly damaging	Het
Cdh13	A	G	8: 119,925,697 (GRCm39)	D355G	probably damaging	Het
Cdyl2	A	G	8: 117,315,983 (GRCm39)		probably benign	Het
Csnk1g3	C	T	18: 54,086,360 (GRCm39)	R422C	probably benign	Het
Dclk1	T	A	3: 55,407,520 (GRCm39)	V233D	probably damaging	Het
Ddx59	T	C	1: 136,361,565 (GRCm39)	S477P	probably damaging	Het
Epb41l1	A	T	2: 156,353,748 (GRCm39)		probably benign	Het
Epha2	T	C	4: 141,045,835 (GRCm39)	L453P	probably damaging	Het
Esco2	T	C	14: 66,064,044 (GRCm39)	H380R	probably benign	Het
Fbxo38	T	C	18: 62,669,298 (GRCm39)	M51V	probably benign	Het
Fgb	T	C	3: 82,950,594 (GRCm39)	M387V	probably damaging	Het
Fryl	A	G	5: 73,233,302 (GRCm39)	L1522S	probably benign	Het
Gdf9	T	A	11: 53,327,569 (GRCm39)	M175K	probably benign	Het
Gm20547	C	T	17: 35,079,524 (GRCm39)	D243N	probably benign	Het
Gramd1b	T	A	9: 40,227,060 (GRCm39)	D299V	probably damaging	Het
Gsg1l	G	T	7: 125,522,671 (GRCm39)	Q186K	possibly damaging	Het
H2bl1	A	T	13: 99,120,691 (GRCm39)	F112I	probably damaging	Het
Katnip	A	T	7: 125,472,648 (GRCm39)		probably null	Het
Lrrc8d	A	G	5: 105,960,253 (GRCm39)	D221G	possibly damaging	Het
Med19	T	C	2: 84,515,603 (GRCm39)	F96L	probably damaging	Het
Mei1	C	A	15: 81,976,912 (GRCm39)	S589*	probably null	Het
Myh15	G	T	16: 48,936,678 (GRCm39)	D708Y	probably damaging	Het
Naca	C	T	10: 127,879,753 (GRCm39)		probably benign	Het
Or5d43	A	T	2: 88,104,566 (GRCm39)	Y276N	possibly damaging	Het
Otog	G	A	7: 45,950,011 (GRCm39)	C306Y	probably damaging	Het
Phldb1	T	C	9: 44,607,369 (GRCm39)	K1279E	probably damaging	Het
Pkd1	C	T	17: 24,798,810 (GRCm39)	T369I	probably damaging	Het
Plekha8	A	G	6: 54,592,271 (GRCm39)	S32G	probably damaging	Het
Pramel25	T	A	4: 143,519,304 (GRCm39)	Y22N	probably benign	Het
Sema4g	A	G	19: 44,984,908 (GRCm39)	T113A	probably damaging	Het
Setdb2	C	T	14: 59,639,764 (GRCm39)	R709Q	probably damaging	Het
Sh3rf3	T	C	10: 58,922,562 (GRCm39)	M546T	probably benign	Het
Slc27a5	A	G	7: 12,728,878 (GRCm39)	V328A	probably damaging	Het
Spef1	T	C	2: 131,014,688 (GRCm39)	N78S	probably benign	Het
Tln1	T	C	4: 43,555,388 (GRCm39)	T179A	probably damaging	Het
Tmc5	T	C	7: 118,244,547 (GRCm39)	I475T	probably damaging	Het
Top2b	A	G	14: 16,400,488 (GRCm38)	Y621C	probably damaging	Het
Ttf1	T	C	2: 28,969,438 (GRCm39)	F727L	probably benign	Het
Tufm	T	C	7: 126,088,332 (GRCm39)	L75P	probably damaging	Het
Ugt1a2	T	A	1: 88,128,796 (GRCm39)	D146E	probably damaging	Het
Usp15	G	A	10: 122,963,742 (GRCm39)	T533I	probably damaging	Het
Vmn1r113	A	G	7: 20,521,747 (GRCm39)	T180A	probably benign	Het
Vmn1r205	G	T	13: 22,776,395 (GRCm39)	P236T	probably damaging	Het
Vmn2r112	T	G	17: 22,838,013 (GRCm39)	C825G	probably damaging	Het
Zfp712	T	A	13: 67,190,222 (GRCm39)	I102F	probably damaging	Het

Other mutations in Kcnh5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00470:Kcnh5	APN	12	74,944,570 (GRCm39)	missense	probably benign	0.00
IGL00675:Kcnh5	APN	12	75,160,963 (GRCm39)	critical splice donor site	probably null
IGL00688:Kcnh5	APN	12	74,945,171 (GRCm39)	missense	probably benign	0.01
IGL00721:Kcnh5	APN	12	75,054,450 (GRCm39)	missense	probably benign	0.32
IGL00793:Kcnh5	APN	12	75,161,120 (GRCm39)	missense	probably damaging	0.99
IGL00802:Kcnh5	APN	12	75,054,399 (GRCm39)	missense	possibly damaging	0.62
IGL00920:Kcnh5	APN	12	75,023,267 (GRCm39)	missense	probably damaging	1.00
IGL01595:Kcnh5	APN	12	74,945,101 (GRCm39)	missense	probably benign	0.05
IGL01642:Kcnh5	APN	12	75,011,943 (GRCm39)	missense	probably damaging	0.98
IGL01675:Kcnh5	APN	12	75,161,274 (GRCm39)	nonsense	probably null
IGL01733:Kcnh5	APN	12	75,011,966 (GRCm39)	missense	probably benign	0.02
IGL02006:Kcnh5	APN	12	74,944,322 (GRCm39)	missense	probably damaging	0.99
IGL02075:Kcnh5	APN	12	75,134,379 (GRCm39)	missense	probably benign	0.00
IGL02155:Kcnh5	APN	12	75,223,312 (GRCm39)	utr 5 prime	probably benign
IGL02304:Kcnh5	APN	12	75,023,471 (GRCm39)	missense	probably benign	0.01
IGL02957:Kcnh5	APN	12	75,054,439 (GRCm39)	missense	probably benign	0.01
R0305:Kcnh5	UTSW	12	75,161,171 (GRCm39)	missense	probably benign	0.00
R0470:Kcnh5	UTSW	12	75,161,188 (GRCm39)	missense	probably benign	0.22
R0553:Kcnh5	UTSW	12	75,184,447 (GRCm39)	missense	probably benign	0.00
R0557:Kcnh5	UTSW	12	75,161,323 (GRCm39)	missense	probably damaging	1.00
R0590:Kcnh5	UTSW	12	75,012,035 (GRCm39)	missense	probably damaging	1.00
R0697:Kcnh5	UTSW	12	75,023,305 (GRCm39)	missense	possibly damaging	0.80
R0699:Kcnh5	UTSW	12	75,023,305 (GRCm39)	missense	possibly damaging	0.80
R1512:Kcnh5	UTSW	12	75,166,711 (GRCm39)	missense	probably benign
R1728:Kcnh5	UTSW	12	75,184,465 (GRCm39)	missense	probably benign	0.18
R1739:Kcnh5	UTSW	12	75,161,003 (GRCm39)	missense	probably damaging	1.00
R1784:Kcnh5	UTSW	12	75,184,465 (GRCm39)	missense	probably benign	0.18
R1956:Kcnh5	UTSW	12	74,944,358 (GRCm39)	missense	probably benign	0.01
R1957:Kcnh5	UTSW	12	74,944,358 (GRCm39)	missense	probably benign	0.01
R2155:Kcnh5	UTSW	12	74,945,230 (GRCm39)	critical splice acceptor site	probably null
R2185:Kcnh5	UTSW	12	75,177,705 (GRCm39)	missense	possibly damaging	0.95
R2237:Kcnh5	UTSW	12	75,054,493 (GRCm39)	missense	probably benign	0.00
R2239:Kcnh5	UTSW	12	75,054,493 (GRCm39)	missense	probably benign	0.00
R2483:Kcnh5	UTSW	12	75,161,245 (GRCm39)	missense	probably damaging	1.00
R2655:Kcnh5	UTSW	12	75,161,314 (GRCm39)	missense	probably damaging	1.00
R3767:Kcnh5	UTSW	12	75,134,350 (GRCm39)	missense	possibly damaging	0.81
R3835:Kcnh5	UTSW	12	74,945,044 (GRCm39)	missense	probably benign
R4681:Kcnh5	UTSW	12	75,054,397 (GRCm39)	missense	probably benign	0.00
R4728:Kcnh5	UTSW	12	75,054,555 (GRCm39)	missense	probably damaging	1.00
R4965:Kcnh5	UTSW	12	75,011,925 (GRCm39)	missense	probably benign	0.11
R5127:Kcnh5	UTSW	12	74,944,858 (GRCm39)	missense	probably benign	0.17
R5267:Kcnh5	UTSW	12	75,134,190 (GRCm39)	missense	probably damaging	0.98
R5535:Kcnh5	UTSW	12	75,177,681 (GRCm39)	missense	possibly damaging	0.76
R5590:Kcnh5	UTSW	12	75,023,463 (GRCm39)	missense	probably benign	0.05
R5684:Kcnh5	UTSW	12	75,184,423 (GRCm39)	missense	probably damaging	1.00
R5747:Kcnh5	UTSW	12	74,945,194 (GRCm39)	missense	probably benign	0.04
R6123:Kcnh5	UTSW	12	75,134,365 (GRCm39)	missense	probably benign	0.01
R6545:Kcnh5	UTSW	12	75,054,432 (GRCm39)	missense	probably damaging	1.00
R6662:Kcnh5	UTSW	12	75,054,385 (GRCm39)	missense	probably damaging	1.00
R7117:Kcnh5	UTSW	12	75,161,219 (GRCm39)	missense	possibly damaging	0.87
R7161:Kcnh5	UTSW	12	74,944,483 (GRCm39)	missense	probably benign	0.10
R7437:Kcnh5	UTSW	12	75,184,417 (GRCm39)	critical splice donor site	probably null
R7557:Kcnh5	UTSW	12	75,054,399 (GRCm39)	missense	possibly damaging	0.62
R7566:Kcnh5	UTSW	12	75,161,166 (GRCm39)	nonsense	probably null
R7591:Kcnh5	UTSW	12	75,054,541 (GRCm39)	missense	probably benign	0.24
R7781:Kcnh5	UTSW	12	75,023,455 (GRCm39)	missense	probably damaging	0.99
R7816:Kcnh5	UTSW	12	75,023,457 (GRCm39)	missense	probably damaging	1.00
R8152:Kcnh5	UTSW	12	74,944,633 (GRCm39)	missense	possibly damaging	0.68
R8390:Kcnh5	UTSW	12	75,134,532 (GRCm39)	missense	probably damaging	1.00
R8560:Kcnh5	UTSW	12	75,023,379 (GRCm39)	missense	probably damaging	1.00
R9056:Kcnh5	UTSW	12	74,944,774 (GRCm39)	missense	probably benign	0.00
R9064:Kcnh5	UTSW	12	75,177,727 (GRCm39)	nonsense	probably null
R9283:Kcnh5	UTSW	12	75,023,307 (GRCm39)	missense	probably damaging	1.00
R9290:Kcnh5	UTSW	12	75,023,488 (GRCm39)	missense	probably benign	0.00
R9552:Kcnh5	UTSW	12	75,023,334 (GRCm39)	missense	probably benign	0.28
R9576:Kcnh5	UTSW	12	74,944,307 (GRCm39)	missense	probably benign	0.00
R9627:Kcnh5	UTSW	12	75,160,990 (GRCm39)	missense	probably damaging	0.99
R9645:Kcnh5	UTSW	12	75,134,191 (GRCm39)	missense	probably benign	0.32
R9650:Kcnh5	UTSW	12	75,023,293 (GRCm39)	missense	probably benign	0.32
Z1088:Kcnh5	UTSW	12	75,012,069 (GRCm39)	missense	possibly damaging	0.78
Z1088:Kcnh5	UTSW	12	74,944,535 (GRCm39)	missense	probably benign	0.00
Z1177:Kcnh5	UTSW	12	75,161,296 (GRCm39)	missense	probably damaging	1.00
Z1177:Kcnh5	UTSW	12	75,054,571 (GRCm39)	missense	possibly damaging	0.90

Posted On

2015-04-16