Mutagenetix > Incidental Mutation

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

044782-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6662 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

74943994-75224106 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 75054385 bp (GRCm39)

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]

AlphaFold

Q920E3

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: 57,062,285 (GRCm39)		probably null	Het
Acox1	A	G	11: 116,066,149 (GRCm39)	Y418H	probably damaging	Het
Akr1b1	C	T	6: 34,286,939 (GRCm39)	V206M	possibly damaging	Het
Aldh3a1	G	A	11: 61,105,481 (GRCm39)	V196I	probably benign	Het
Aox3	A	G	1: 58,157,774 (GRCm39)	K44E	probably damaging	Het
Bad	T	A	19: 6,928,438 (GRCm39)		probably benign	Het
BC034090	G	T	1: 155,102,085 (GRCm39)	Q60K	possibly damaging	Het
Casp6	A	G	3: 129,705,875 (GRCm39)	T181A	probably benign	Het
Catsperg2	G	A	7: 29,418,938 (GRCm39)		probably benign	Het
Ccdc14	T	C	16: 34,511,164 (GRCm39)	L46P	probably damaging	Het
Ces1b	A	G	8: 93,790,697 (GRCm39)	L364S	probably benign	Het
Cfap45	T	C	1: 172,357,417 (GRCm39)	I15T	probably benign	Het
Dph5	G	A	3: 115,722,205 (GRCm39)	E228K	probably benign	Het
Fat4	G	T	3: 39,010,970 (GRCm39)	L2023F	possibly damaging	Het
Garem1	T	C	18: 21,281,304 (GRCm39)	N351D	probably benign	Het
Grm2	C	T	9: 106,525,252 (GRCm39)	A488T	probably benign	Het
Ifit3b	A	G	19: 34,589,337 (GRCm39)	E171G	probably damaging	Het
Il1rn	A	T	2: 24,226,887 (GRCm39)		probably null	Het
Itih5	A	T	2: 10,253,992 (GRCm39)	I748F	probably benign	Het
Mgat5	C	A	1: 127,396,974 (GRCm39)	H574N	probably damaging	Het
Moxd1	A	C	10: 24,160,658 (GRCm39)	D437A	probably damaging	Het
Mybpc2	A	G	7: 44,155,590 (GRCm39)	F888L	probably benign	Het
Ncs1	T	A	2: 31,177,372 (GRCm39)	L183Q	probably damaging	Het
Neto2	A	T	8: 86,389,844 (GRCm39)	D206E	probably damaging	Het
Omp	A	G	7: 97,794,546 (GRCm39)	L27P	probably damaging	Het
Oxsm	A	G	14: 16,242,287 (GRCm38)	S161P	probably benign	Het
Pate6	C	A	9: 35,701,296 (GRCm39)	R6M	possibly damaging	Het
Pde4b	A	G	4: 102,459,095 (GRCm39)	I381M	possibly damaging	Het
Pramel5	A	T	4: 143,999,675 (GRCm39)	N137K	probably benign	Het
Prss33	T	C	17: 24,052,934 (GRCm39)	S247G	probably damaging	Het
Rassf9	T	A	10: 102,381,899 (GRCm39)	L425Q	possibly damaging	Het
Setx	A	T	2: 29,048,126 (GRCm39)	D1909V	probably damaging	Het
Slc26a3	A	T	12: 31,507,345 (GRCm39)	K402*	probably null	Het
Slco1a6	G	A	6: 142,078,941 (GRCm39)	T118I	probably damaging	Het
Syne1	A	G	10: 5,078,416 (GRCm39)	L6769P	probably damaging	Het
Tas2r107	A	T	6: 131,636,452 (GRCm39)	V199D	possibly damaging	Het
Tchp	A	G	5: 114,858,076 (GRCm39)		probably null	Het
Trdn	A	T	10: 33,350,483 (GRCm39)	N684I	probably damaging	Het
Trio	G	T	15: 27,855,082 (GRCm39)	T700K	probably benign	Het
Ttn	C	T	2: 76,586,242 (GRCm39)	V20084I	probably benign	Het
Ubl3	A	T	5: 148,446,116 (GRCm39)	Y62*	probably null	Het
Uckl1	A	G	2: 181,215,053 (GRCm39)	Y267H	possibly damaging	Het
Zfp1005	G	A	2: 150,108,172 (GRCm39)		probably null	Het
Zfp786	T	C	6: 47,803,920 (GRCm39)	N41D	probably damaging	Het
Zfp983	T	C	17: 21,881,001 (GRCm39)	S310P	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
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

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