Mutagenetix > Incidental Mutation

Incidental Mutation 'R7591:Kcnh5'

587411

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

045638-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7591 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

74943994-75224106 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 75054541 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 468 (T468A)

Ref Sequence

ENSEMBL: ENSMUSP00000046864 (fasta)

Gene Model

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

AlphaFold

Q920E3

Predicted Effect

probably benign
Transcript: ENSMUST00000042299
AA Change: T468A

PolyPhen 2 Score 0.238 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000046864
Gene: ENSMUSG00000034402
AA Change: T468A

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

0.3297

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.2%

Validation Efficiency

100% (45/45)

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: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ccne2	T	C	4: 11,201,393 (GRCm39)	I307T	probably benign	Het
Chrm3	A	T	13: 9,927,349 (GRCm39)	C562*	probably null	Het
Cldn11	A	T	3: 31,204,436 (GRCm39)	E46D	probably benign	Het
Cyp4a14	A	G	4: 115,347,157 (GRCm39)		probably null	Het
Dbh	A	G	2: 27,060,522 (GRCm39)	T233A	probably damaging	Het
Dennd2c	T	A	3: 103,040,661 (GRCm39)	Y309N	possibly damaging	Het
Dnttip2	T	A	3: 122,070,117 (GRCm39)	L444*	probably null	Het
Enpp5	G	A	17: 44,396,155 (GRCm39)	G356S	probably damaging	Het
Epop	A	T	11: 97,519,158 (GRCm39)	V317E	probably damaging	Het
Eppk1	T	C	15: 75,991,797 (GRCm39)	T1695A	possibly damaging	Het
Fam149a	T	A	8: 45,803,472 (GRCm39)	I421F	possibly damaging	Het
Impa2	T	C	18: 67,451,480 (GRCm39)	L258P	probably damaging	Het
Itga1	G	A	13: 115,119,315 (GRCm39)	R855W	probably damaging	Het
Kif11	A	G	19: 37,372,711 (GRCm39)	K33R	probably damaging	Het
Lamb1	C	A	12: 31,376,647 (GRCm39)	A1657E	probably damaging	Het
Macc1	T	C	12: 119,410,393 (GRCm39)	V387A	probably damaging	Het
Nalcn	T	C	14: 123,561,297 (GRCm39)	T734A	probably benign	Het
Nphp3	T	C	9: 103,895,477 (GRCm39)		probably null	Het
Nutm2	A	G	13: 50,627,903 (GRCm39)	I461M	probably damaging	Het
Or14p1	T	C	13: 65,292,462 (GRCm39)	F130L	probably benign	Het
Or4p7	G	A	2: 88,222,220 (GRCm39)	V210M	probably benign	Het
Or4s2	A	C	2: 88,473,811 (GRCm39)	K233N	probably damaging	Het
Or5b112	A	G	19: 13,319,619 (GRCm39)	S166G	probably benign	Het
Pigo	T	C	4: 43,025,093 (GRCm39)	N2S	probably benign	Het
Plcl1	A	T	1: 55,736,608 (GRCm39)	I650L	probably benign	Het
Ppcdc	A	T	9: 57,342,262 (GRCm39)	V20D	probably damaging	Het
Pramel27	A	T	4: 143,577,481 (GRCm39)	I88L	probably benign	Het
Rhobtb2	A	G	14: 70,037,190 (GRCm39)	V78A	possibly damaging	Het
Rp1l1	T	C	14: 64,263,558 (GRCm39)	V226A	probably damaging	Het
Scrt1	C	A	15: 76,403,694 (GRCm39)	G99C	probably damaging	Het
Skint9	A	T	4: 112,248,147 (GRCm39)	I199N	probably damaging	Het
Slc5a4a	T	C	10: 75,983,501 (GRCm39)		probably benign	Het
Smad3	C	T	9: 63,561,999 (GRCm39)	W326*	probably null	Het
Spata18	A	T	5: 73,829,759 (GRCm39)	I305F		Het
Spata31h1	C	A	10: 82,128,046 (GRCm39)	V1655F	probably benign	Het
St3gal1	A	G	15: 66,983,195 (GRCm39)	V187A	possibly damaging	Het
Syne3	A	G	12: 104,906,863 (GRCm39)		probably null	Het
Trim69	G	A	2: 121,998,454 (GRCm39)	R142Q	probably benign	Het
Vmn1r40	A	T	6: 89,691,755 (GRCm39)	I191F	probably benign	Het
Vmn2r16	T	A	5: 109,510,223 (GRCm39)	D535E	probably damaging	Het
Vwa5b2	A	G	16: 20,420,317 (GRCm39)	E742G	probably damaging	Het
Zfp442	A	T	2: 150,250,092 (GRCm39)	Y603*	probably null	Het
Zp1	T	C	19: 10,896,835 (GRCm39)	N68S	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
IGL02148:Kcnh5	APN	12	74,944,426 (GRCm39)	missense	possibly damaging	0.86
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
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

Predicted Primers

PCR Primer
(F):5'- CACAGGGCAATTGTGAATGG -3'
(R):5'- CCAAGCAGTGTAGTCAGGAC -3'

Sequencing Primer
(F):5'- TGTGAATGGGAAATGTACATACATC -3'
(R):5'- CTGTAACATGATTTACTGGTTTAG -3'

Posted On

2019-10-24