Mutagenetix > Incidental Mutation

Incidental Mutation 'R7117:Kcnh5'

551874

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

045208-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7117 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

74943994-75224106 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 75161219 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 230 (I230F)

Ref Sequence

ENSEMBL: ENSMUSP00000046864 (fasta)

Gene Model

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

AlphaFold

Q920E3

Predicted Effect

possibly damaging
Transcript: ENSMUST00000042299
AA Change: I230F

PolyPhen 2 Score 0.865 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000046864
Gene: ENSMUSG00000034402
AA Change: I230F

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: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.2%

Validation Efficiency

97% (95/98)

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: 98 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2900026A02Rik	T	C	5: 113,339,250 (GRCm39)	Y254C	probably benign	Het
4930480E11Rik	G	T	X: 77,414,311 (GRCm39)	M345I	probably benign	Het
Adam12	T	C	7: 133,518,191 (GRCm39)	I650V	probably benign	Het
Adam39	G	T	8: 41,279,279 (GRCm39)	G557C	probably damaging	Het
Ak5	A	G	3: 152,321,493 (GRCm39)		probably null	Het
Arhgef10l	C	T	4: 140,291,497 (GRCm39)		probably null	Het
Arhgef37	C	T	18: 61,637,481 (GRCm39)	E394K	probably benign	Het
Baz2b	A	G	2: 59,742,841 (GRCm39)	V13A		Het
Bnc1	G	T	7: 81,623,109 (GRCm39)	A706E	possibly damaging	Het
Bscl2	G	A	19: 8,825,878 (GRCm39)	A421T	possibly damaging	Het
Btn1a1	A	C	13: 23,643,415 (GRCm39)	W345G	possibly damaging	Het
C3	A	T	17: 57,519,655 (GRCm39)	M1199K	probably benign	Het
Ccdc18	T	G	5: 108,296,835 (GRCm39)	L213V	possibly damaging	Het
Cers2	T	C	3: 95,228,072 (GRCm39)		probably null	Het
Chpt1	T	A	10: 88,316,711 (GRCm39)	H249L	probably damaging	Het
Cited2	A	G	10: 17,600,364 (GRCm39)	E224G	possibly damaging	Het
Cntn5	T	A	9: 10,904,704 (GRCm39)		probably benign	Het
Col28a1	A	G	6: 8,013,122 (GRCm39)	S977P	possibly damaging	Het
Col6a1	T	C	10: 76,560,843 (GRCm39)	K52E	probably damaging	Het
Cpne2	T	A	8: 95,282,172 (GRCm39)	H239Q	probably damaging	Het
Cr2	A	T	1: 194,842,909 (GRCm39)	N244K	possibly damaging	Het
Csf2rb2	T	C	15: 78,169,385 (GRCm39)	D590G	probably damaging	Het
Defb25	A	C	2: 152,464,380 (GRCm39)	C55G	probably damaging	Het
Dnah7b	A	T	1: 46,391,973 (GRCm39)		probably null	Het
Dvl3	T	A	16: 20,346,072 (GRCm39)	Y467*	probably null	Het
Elapor2	T	A	5: 9,495,384 (GRCm39)	C729*	probably null	Het
Extl2	T	C	3: 115,821,088 (GRCm39)	S312P	probably damaging	Het
Fam178b	T	C	1: 36,639,548 (GRCm39)	T313A	probably benign	Het
Fam186b	A	G	15: 99,183,471 (GRCm39)	Y58H	probably damaging	Het
Fat1	A	T	8: 45,484,505 (GRCm39)	I3248L	probably damaging	Het
Fat2	A	G	11: 55,172,088 (GRCm39)	F2875S	probably damaging	Het
Flnb	T	A	14: 7,894,214 (GRCm38)	N760K	probably benign	Het
Galnt14	T	C	17: 73,801,190 (GRCm39)	H544R	probably benign	Het
Gpr137c	A	C	14: 45,516,484 (GRCm39)	R357S	probably damaging	Het
Grk2	A	G	19: 4,340,630 (GRCm39)		probably null	Het
Hectd2	A	T	19: 36,577,055 (GRCm39)	T342S	probably benign	Het
Hjv	G	T	3: 96,435,542 (GRCm39)	V267L	possibly damaging	Het
Ildr2	G	T	1: 166,123,380 (GRCm39)	G270C	probably damaging	Het
Insm2	C	A	12: 55,647,357 (GRCm39)	A367D	probably damaging	Het
Keg1	T	A	19: 12,687,042 (GRCm39)	S24T	probably damaging	Het
Kera	A	T	10: 97,448,714 (GRCm39)	E311D	probably benign	Het
Kit	T	A	5: 75,767,758 (GRCm39)	I47K	probably benign	Het
Megf6	A	G	4: 154,343,379 (GRCm39)	T663A	possibly damaging	Het
Mettl21c	G	A	1: 44,049,808 (GRCm39)	A79V	probably damaging	Het
Mfsd1	T	A	3: 67,507,391 (GRCm39)		probably null	Het
Mob3b	A	G	4: 34,985,914 (GRCm39)		probably null	Het
Morc2b	T	A	17: 33,356,926 (GRCm39)	H282L	probably benign	Het
Mtpap	T	C	18: 4,380,889 (GRCm39)		probably null	Het
Mtus1	A	G	8: 41,536,621 (GRCm39)	V365A	possibly damaging	Het
Muc5ac	T	A	7: 141,367,559 (GRCm39)	Y2993*	probably null	Het
Mycbp2	A	C	14: 103,391,513 (GRCm39)	F3422V	probably benign	Het
Ndufb7	T	A	8: 84,297,490 (GRCm39)	D48E	probably benign	Het
Nxpe5	A	G	5: 138,237,704 (GRCm39)	Y88C	probably damaging	Het
Or51a6	T	A	7: 102,604,185 (GRCm39)	M208L	probably benign	Het
Or5d3	A	G	2: 88,174,905 (GRCm39)	L64P	probably damaging	Het
Osbpl5	T	A	7: 143,263,520 (GRCm39)	D121V	probably benign	Het
Oxnad1	A	T	14: 31,813,608 (GRCm39)	H3L	probably benign	Het
Pam	C	A	1: 97,904,841 (GRCm39)		probably benign	Het
Papolg	T	C	11: 23,845,207 (GRCm39)		probably benign	Het
Pax1	G	A	2: 147,208,190 (GRCm39)	G266D	probably damaging	Het
Pde11a	A	T	2: 75,906,348 (GRCm39)	M623K	probably damaging	Het
Peg3	GTGGGGCTCCTGGCCATGGGGCTTATCATCATGGGGCTCCTGGCCATGGGGCTTATCATCATGGGGCTCCTGGCCATGGGGCTTATCATCATGGGGCTC	GTGGGGCTCCTGGCCATGGGGCTTATCATCATGGGGCTCCTGGCCATGGGGCTTATCATCATGGGGCTC	7: 6,712,167 (GRCm39)		probably benign	Het
Phf21a	A	T	2: 92,189,502 (GRCm39)	Q587L	probably benign	Het
Plcb3	A	G	19: 6,941,746 (GRCm39)	L336P	probably damaging	Het
Pnp2	T	C	14: 51,201,931 (GRCm39)	*306Q	probably null	Het
Pou5f2	A	G	13: 78,173,392 (GRCm39)	I111M	probably benign	Het
Pramel32	T	A	4: 88,547,195 (GRCm39)	M246L	probably damaging	Het
Prmt3	G	T	7: 49,467,843 (GRCm39)	A350S	probably benign	Het
Rac3	A	T	11: 120,614,343 (GRCm39)	R163*	probably null	Het
Raly	G	T	2: 154,699,432 (GRCm39)	V79L	probably benign	Het
Rbm20	A	T	19: 53,839,989 (GRCm39)	T993S	possibly damaging	Het
Rwdd3	A	G	3: 120,964,987 (GRCm39)	L56P	probably benign	Het
Serpina3a	C	T	12: 104,082,436 (GRCm39)	H70Y	possibly damaging	Het
Sez6l2	A	C	7: 126,552,915 (GRCm39)	E227A	possibly damaging	Het
Shank1	C	T	7: 43,976,585 (GRCm39)	A561V	unknown	Het
Sidt2	C	T	9: 45,864,517 (GRCm39)	V71I	probably benign	Het
Slc35f6	T	C	5: 30,815,051 (GRCm39)	L326P	probably damaging	Het
Sox2	G	A	3: 34,705,075 (GRCm39)	G171S	possibly damaging	Het
Spef2	G	A	15: 9,729,924 (GRCm39)	R65C	probably damaging	Het
Spmap2	A	T	10: 79,420,741 (GRCm39)		probably null	Het
Stip1	C	T	19: 6,999,178 (GRCm39)	G467S	possibly damaging	Het
Tada2a	T	A	11: 83,976,514 (GRCm39)	I327F	probably damaging	Het
Tex2	A	G	11: 106,435,071 (GRCm39)	V785A	unknown	Het
Thada	C	A	17: 84,538,214 (GRCm39)		probably null	Het
Tmed1	G	A	9: 21,420,550 (GRCm39)	T94M	possibly damaging	Het
Tsr1	G	T	11: 74,790,360 (GRCm39)	M149I	probably benign	Het
Ttc8	T	C	12: 98,942,761 (GRCm39)	Y434H	possibly damaging	Het
Ttn	A	G	2: 76,578,519 (GRCm39)	Y24125H	probably damaging	Het
Ttn	G	T	2: 76,552,253 (GRCm39)		probably null	Het
Ttn	A	G	2: 76,773,235 (GRCm39)	I2435T	unknown	Het
Uggt2	T	C	14: 119,251,938 (GRCm39)	I1174M	probably benign	Het
Unc13b	T	C	4: 43,216,544 (GRCm39)	I281T	probably benign	Het
Usp1	G	T	4: 98,817,127 (GRCm39)	K106N	possibly damaging	Het
Vwa3b	A	G	1: 37,174,634 (GRCm39)	D15G		Het
Zfp28	G	A	7: 6,397,461 (GRCm39)	C632Y	probably damaging	Het
Zfp68	T	C	5: 138,604,580 (GRCm39)	D581G	probably benign	Het
Zmynd10	A	C	9: 107,424,716 (GRCm39)	S21R	probably benign	Het
Zswim4	C	T	8: 84,940,681 (GRCm39)	R806H	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
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'- TTCATCCTTATAAGCTTCGGGTCAG -3'
(R):5'- AATCATGTGACTCGGTCTGTG -3'

Sequencing Primer
(F):5'- CCTTATAAGCTTCGGGTCAGAAATG -3'
(R):5'- TGCAGTCACAGCTGTCTTCAGAG -3'

Posted On

2019-05-15