Mutagenetix > Incidental Mutation

Incidental Mutation 'R2155:Kcnh5'

234736

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

040158-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2155 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

74943994-75224106 bp(-) (GRCm39)

Type of Mutation

critical splice acceptor site

DNA Base Change (assembly)

T to A at 74945230 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000046864 (fasta)

Gene Model

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

AlphaFold

Q920E3

Predicted Effect

probably null
Transcript: ENSMUST00000042299

SMART Domains

Protein: ENSMUSP00000046864
Gene: ENSMUSG00000034402

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

1x: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.4%

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: 89 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2610318N02Rik	A	G	16: 16,939,260 (GRCm39)	L41P	probably damaging	Het
Aff4	C	T	11: 53,290,446 (GRCm39)	L469F	probably damaging	Het
AI182371	G	A	2: 34,975,366 (GRCm39)	H288Y	probably benign	Het
AK157302	A	T	13: 21,679,827 (GRCm39)	K118*	probably null	Het
Arhgef2	G	A	3: 88,543,351 (GRCm39)	R454Q	probably damaging	Het
Asb17	C	T	3: 153,550,322 (GRCm39)	T118M	probably damaging	Het
Atp7b	A	G	8: 22,503,600 (GRCm39)	V718A	possibly damaging	Het
Cdca2	A	G	14: 67,952,287 (GRCm39)	L28S	probably damaging	Het
Cdh20	G	T	1: 109,976,594 (GRCm39)	L86F	probably damaging	Het
Cela2a	A	T	4: 141,545,350 (GRCm39)		probably null	Het
Cers3	T	A	7: 66,433,162 (GRCm39)	Y160N	probably damaging	Het
Chmp2b	A	G	16: 65,343,877 (GRCm39)	V56A	probably benign	Het
Cryl1	A	G	14: 57,635,880 (GRCm39)	V9A	unknown	Het
Dmbt1	A	T	7: 130,699,305 (GRCm39)	H978L	possibly damaging	Het
Dnm1	C	T	2: 32,204,949 (GRCm39)	V673M	probably damaging	Het
Dtx4	T	A	19: 12,462,646 (GRCm39)	K378*	probably null	Het
Extl1	A	T	4: 134,090,491 (GRCm39)	M328K	possibly damaging	Het
Fcgbp	T	C	7: 27,806,628 (GRCm39)	S2199P	probably benign	Het
Glis3	G	T	19: 28,508,702 (GRCm39)	N427K	probably benign	Het
Hdac7	T	C	15: 97,691,944 (GRCm39)	K810E	probably benign	Het
Hesx1	A	G	14: 26,723,434 (GRCm39)	E88G	probably benign	Het
Hmcn2	A	T	2: 31,350,361 (GRCm39)	Q5086L	possibly damaging	Het
Ier3	A	G	17: 36,133,101 (GRCm39)	T128A	probably benign	Het
Igsf10	G	T	3: 59,239,101 (GRCm39)	T360K	probably damaging	Het
Ilkap	A	C	1: 91,312,345 (GRCm39)	C2G	possibly damaging	Het
Itih1	A	G	14: 30,660,028 (GRCm39)	F231S	probably damaging	Het
Jrkl	A	T	9: 13,244,913 (GRCm39)	Y249*	probably null	Het
Kat6a	AGAGGAGGAGGAGGAGGAGGAGGAG	AGAGGAGGAGGAGGAGGAGGAG	8: 23,425,663 (GRCm39)		probably benign	Het
Katnal2	A	T	18: 77,098,637 (GRCm39)	S184R	probably benign	Het
Kcnj11	G	T	7: 45,748,781 (GRCm39)	L181I	probably damaging	Het
Klhl2	T	C	8: 65,202,804 (GRCm39)	T465A	probably benign	Het
Krt90	T	A	15: 101,471,046 (GRCm39)	Y72F	probably benign	Het
Lig4	G	A	8: 10,022,766 (GRCm39)	T338I	probably benign	Het
Lrrc37	T	C	11: 103,511,285 (GRCm39)	T228A	unknown	Het
Magel2	T	C	7: 62,030,540 (GRCm39)	V1148A	unknown	Het
Mak	C	A	13: 41,186,020 (GRCm39)	E549D	probably benign	Het
Marf1	G	T	16: 13,950,293 (GRCm39)	S1001Y	probably damaging	Het
Mcoln1	G	A	8: 3,561,787 (GRCm39)	V446I	probably damaging	Het
Meig1	T	C	2: 3,410,290 (GRCm39)	N70S	probably benign	Het
Mfsd14a	G	A	3: 116,441,479 (GRCm39)	T108I	probably damaging	Het
Mocs1	G	A	17: 49,761,386 (GRCm39)	M493I	probably damaging	Het
Mrpl11	C	A	19: 5,012,497 (GRCm39)	A26E	probably damaging	Het
Myh6	A	T	14: 55,191,251 (GRCm39)	D863E	probably benign	Het
Myom2	T	A	8: 15,134,555 (GRCm39)	Y453N	probably damaging	Het
Nhlh1	A	G	1: 171,881,524 (GRCm39)	I114T	probably damaging	Het
Odr4	A	G	1: 150,258,086 (GRCm39)	V183A	possibly damaging	Het
Or12j4	A	C	7: 140,046,504 (GRCm39)	H130P	probably benign	Het
Or2y3	G	T	17: 38,393,071 (GRCm39)	P266Q	probably damaging	Het
Or4k5	A	T	14: 50,386,154 (GRCm39)	M59K	probably damaging	Het
Or5k17	G	T	16: 58,746,486 (GRCm39)	F149L	probably benign	Het
Or5p80	C	G	7: 108,229,984 (GRCm39)	P262A	probably damaging	Het
Pclo	T	C	5: 14,764,309 (GRCm39)	S976P	probably benign	Het
Pde3a	G	A	6: 141,429,640 (GRCm39)	E734K	possibly damaging	Het
Pdzd2	A	T	15: 12,375,879 (GRCm39)	S1419T	probably benign	Het
Pdzd8	T	A	19: 59,288,853 (GRCm39)	Y849F	probably damaging	Het
Phldb3	A	G	7: 24,312,070 (GRCm39)	E128G	probably damaging	Het
Polg	A	G	7: 79,111,468 (GRCm39)	I261T	possibly damaging	Het
Ppp1r35	T	C	5: 137,778,267 (GRCm39)	M254T	probably benign	Het
Ppp3ca	G	T	3: 136,596,211 (GRCm39)	R292M	possibly damaging	Het
Ptk7	T	A	17: 46,890,543 (GRCm39)	T430S	probably benign	Het
Ptrh1	T	A	2: 32,667,040 (GRCm39)	N144K	possibly damaging	Het
Rbfox1	A	G	16: 7,111,946 (GRCm39)	T211A	possibly damaging	Het
Rbpjl	A	G	2: 164,256,343 (GRCm39)	D443G	possibly damaging	Het
Rcc1	A	G	4: 132,065,360 (GRCm39)		probably null	Het
Rimbp2	G	T	5: 128,865,229 (GRCm39)	S706R	probably damaging	Het
Rsph10b	G	C	5: 143,898,074 (GRCm39)	E96D	probably benign	Het
Scn10a	A	T	9: 119,438,514 (GRCm39)	I1784K	probably benign	Het
Sfxn2	A	G	19: 46,579,985 (GRCm39)		probably null	Het
Slamf6	T	A	1: 171,765,575 (GRCm39)	L233Q	probably damaging	Het
Slc17a5	A	T	9: 78,484,455 (GRCm39)	Y102N	probably damaging	Het
Slc25a53	T	C	X: 135,884,216 (GRCm39)	T42A	probably damaging	Het
Slco1a8	T	C	6: 141,926,670 (GRCm39)	D552G	probably damaging	Het
Smg7	G	A	1: 152,716,064 (GRCm39)	T1057I	possibly damaging	Het
Speer2	T	A	16: 69,657,485 (GRCm39)	T53S	possibly damaging	Het
Srm	A	C	4: 148,676,948 (GRCm39)	I100L	probably benign	Het
Stoml3	A	C	3: 53,415,008 (GRCm39)	N267H	probably damaging	Het
Thsd7a	A	C	6: 12,379,632 (GRCm39)	C931G	probably damaging	Het
Tlr11	A	G	14: 50,598,139 (GRCm39)	I42V	probably benign	Het
Tmigd1	T	C	11: 76,800,999 (GRCm39)	V162A	probably benign	Het
Tmx3	A	G	18: 90,528,505 (GRCm39)		probably null	Het
Topors	T	A	4: 40,262,790 (GRCm39)	R165W	possibly damaging	Het
Ttc17	A	T	2: 94,196,987 (GRCm39)	S453R	possibly damaging	Het
Vmn1r49	G	T	6: 90,049,441 (GRCm39)	T187N	probably damaging	Het
Zbtb49	A	T	5: 38,371,464 (GRCm39)	V139E	possibly damaging	Het
Zfp11	T	C	5: 129,734,216 (GRCm39)	H415R	probably damaging	Het
Zfp677	A	T	17: 21,617,970 (GRCm39)	K342N	probably benign	Het
Zfp979	A	C	4: 147,697,915 (GRCm39)	C265G	possibly damaging	Het
Zfpl1	T	C	19: 6,134,459 (GRCm39)	R9G	probably damaging	Het
Zkscan8	A	T	13: 21,704,759 (GRCm39)	C321*	probably null	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
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

Predicted Primers

PCR Primer
(F):5'- TCTCTACCTGAAGCTGGCTC -3'
(R):5'- TAAGAGTGTAGTCAGTCAGTGTCC -3'

Sequencing Primer
(F):5'- TGAAGCTGGCTCCTCTCAG -3'
(R):5'- CAGTGTCCCTGAGTTAGATATTGG -3'

Posted On

2014-10-01