Mutagenetix > Incidental Mutation

Incidental Mutation 'R5652:Kcnh6'

501321

Institutional Source

Beutler Lab

Gene Symbol

Kcnh6

Ensembl Gene

ENSMUSG00000001901

Gene Name

potassium voltage-gated channel, subfamily H (eag-related), member 6

Synonyms

m-erg2

MMRRC Submission

043298-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5652 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

105898950-105925375 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 105899811 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Cysteine at position 27 (R27C)

Ref Sequence

ENSEMBL: ENSMUSP00000102516 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000001965] [ENSMUST00000106903] [ENSMUST00000145539] [ENSMUST00000190995]

AlphaFold

Q32ME0

Predicted Effect

probably damaging
Transcript: ENSMUST00000001965
AA Change: R27C

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000001965
Gene: ENSMUSG00000001901
AA Change: R27C

Domain	Start	End	E-Value	Type
Blast:PAS	13	87	2e-43	BLAST
PAC	93	135	4.06e-2	SMART
low complexity region	139	152	N/A	INTRINSIC
low complexity region	158	173	N/A	INTRINSIC
Pfam:Ion_trans	256	523	6.8e-40	PFAM
Pfam:Ion_trans_2	445	517	2.6e-13	PFAM
cNMP	594	712	3.21e-23	SMART
coiled coil region	782	809	N/A	INTRINSIC
low complexity region	901	912	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000106903
AA Change: R27C

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000102516
Gene: ENSMUSG00000001901
AA Change: R27C

Domain	Start	End	E-Value	Type
Blast:PAS	13	87	3e-43	BLAST
PAC	93	135	4.06e-2	SMART
low complexity region	139	152	N/A	INTRINSIC
low complexity region	158	173	N/A	INTRINSIC
transmembrane domain	258	280	N/A	INTRINSIC
Pfam:Ion_trans	302	420	6.2e-10	PFAM
Pfam:Ion_trans_2	395	464	2.6e-9	PFAM
cNMP	541	659	3.21e-23	SMART
coiled coil region	729	756	N/A	INTRINSIC
low complexity region	848	859	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000140695

Predicted Effect

probably damaging
Transcript: ENSMUST00000145539
AA Change: R27C

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000137675
Gene: ENSMUSG00000001901
AA Change: R27C

Domain	Start	End	E-Value	Type
Blast:PAS	13	87	3e-43	BLAST
PAC	93	135	4.06e-2	SMART
low complexity region	139	152	N/A	INTRINSIC
low complexity region	158	173	N/A	INTRINSIC
transmembrane domain	261	283	N/A	INTRINSIC
Pfam:Ion_trans	302	511	1.4e-22	PFAM
Pfam:Ion_trans_2	442	517	2e-13	PFAM
cNMP	594	712	3.21e-23	SMART
low complexity region	764	775	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000190995

SMART Domains

Protein: ENSMUSP00000140827
Gene: ENSMUSG00000101605

Domain	Start	End	E-Value	Type
signal peptide	1	17	N/A	INTRINSIC
Pfam:Peptidase_M2	25	616	2e-265	PFAM
transmembrane domain	638	660	N/A	INTRINSIC
transmembrane domain	700	722	N/A	INTRINSIC

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.2%
20x: 95.0%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Voltage-gated potassium (Kv) channels represent the most complex class of voltage-gated ion channels from both functional and structural standpoints. Their diverse functions include regulating neurotransmitter release, heart rate, insulin secretion, neuronal excitability, epithelial electrolyte transport, smooth muscle contraction, and cell volume. This gene encodes a member of the potassium channel, voltage-gated, subfamily H. This member is a pore-forming (alpha) subunit. Alternative splicing results in multiple transcript variants that encode different isoforms. [provided by RefSeq, Jul 2013]

Allele List at MGI

Other mutations in this stock

Total: 86 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc4	T	C	14: 118,856,339 (GRCm39)	I334V	probably benign	Het
Adamts5	C	T	16: 85,696,156 (GRCm39)	A334T	probably damaging	Het
Adcy4	G	C	14: 56,010,900 (GRCm39)	F672L	probably benign	Het
Adgrl1	A	G	8: 84,656,444 (GRCm39)	Y254C	probably damaging	Het
Adnp2	A	G	18: 80,174,065 (GRCm39)	S115P	probably damaging	Het
Aox1	A	T	1: 58,134,356 (GRCm39)	S1110C	probably damaging	Het
Arhgap44	G	T	11: 64,915,064 (GRCm39)	N401K	probably damaging	Het
Atp23	A	T	10: 126,735,494 (GRCm39)	N63K	possibly damaging	Het
Atp8b1	G	C	18: 64,664,453 (GRCm39)	I1238M	probably benign	Het
Ccdc38	A	T	10: 93,391,448 (GRCm39)		probably null	Het
Celsr2	T	C	3: 108,304,051 (GRCm39)	D2364G	probably null	Het
Celsr3	G	A	9: 108,715,671 (GRCm39)	D2116N	probably benign	Het
Cenpf	A	G	1: 189,389,279 (GRCm39)	S1518P	probably damaging	Het
Clcn3	C	A	8: 61,372,387 (GRCm39)	V758L	possibly damaging	Het
Cmklr2	A	G	1: 63,222,626 (GRCm39)	V203A	probably benign	Het
Ctsf	T	C	19: 4,908,505 (GRCm39)	L288P	probably damaging	Het
Cwh43	A	G	5: 73,575,484 (GRCm39)	T334A	probably damaging	Het
Cyp3a57	A	T	5: 145,286,135 (GRCm39)		probably null	Het
Ddr1	C	T	17: 35,997,400 (GRCm39)	A531T	probably benign	Het
Dennd1a	A	G	2: 37,691,138 (GRCm39)	I260T	probably benign	Het
Dgkh	T	C	14: 78,865,201 (GRCm39)	H47R	probably damaging	Het
Dync1h1	G	A	12: 110,632,422 (GRCm39)	V4514I	possibly damaging	Het
Dync2h1	A	T	9: 7,116,638 (GRCm39)	M66K	probably benign	Het
Fam186a	T	G	15: 99,843,253 (GRCm39)	Y997S	possibly damaging	Het
Fam8a1	T	A	13: 46,827,814 (GRCm39)	L334H	probably damaging	Het
Fat4	C	T	3: 39,057,117 (GRCm39)	T4271I	probably damaging	Het
Fdxacb1	T	A	9: 50,679,705 (GRCm39)	L41Q	probably damaging	Het
Fgfr2	C	T	7: 129,863,593 (GRCm39)	V18M	probably damaging	Het
Gpa33	A	C	1: 165,992,714 (GRCm39)		probably null	Het
Gpr107	A	G	2: 31,075,601 (GRCm39)	I371V	probably benign	Het
H1f6	A	G	13: 23,880,219 (GRCm39)	K124R	probably benign	Het
Hectd2	T	C	19: 36,581,720 (GRCm39)	V420A	probably damaging	Het
Iglc3	A	G	16: 18,884,420 (GRCm39)		probably benign	Het
Igtp	A	G	11: 58,097,455 (GRCm39)	T209A	probably benign	Het
Itgb7	T	A	15: 102,124,638 (GRCm39)	N793I	possibly damaging	Het
Kansl1	G	A	11: 104,228,992 (GRCm39)	R870C	probably damaging	Het
Kif2b	T	A	11: 91,466,656 (GRCm39)	E542D	possibly damaging	Het
Klhl24	C	A	16: 19,938,997 (GRCm39)	Y517*	probably null	Het
Klhl25	A	G	7: 75,515,895 (GRCm39)	D267G	probably benign	Het
Krr1	C	A	10: 111,813,288 (GRCm39)	F195L	possibly damaging	Het
Lsr	C	T	7: 30,658,456 (GRCm39)	G95D	probably damaging	Het
Matcap2	A	G	9: 22,335,786 (GRCm39)	T135A	probably benign	Het
Med15	A	T	16: 17,473,055 (GRCm39)	I504N	probably damaging	Het
Mug1	A	G	6: 121,817,140 (GRCm39)	R70G	probably benign	Het
Mypn	T	A	10: 62,971,580 (GRCm39)	Q820L	probably damaging	Het
Nlrp4f	A	T	13: 65,330,803 (GRCm39)	H863Q	probably benign	Het
Nudt9	G	A	5: 104,207,646 (GRCm39)	V213M	probably benign	Het
Or5ak4	T	A	2: 85,161,717 (GRCm39)	N175I	probably damaging	Het
Or5k14	A	G	16: 58,692,847 (GRCm39)	L222P	probably damaging	Het
Or7g16	A	G	9: 18,726,922 (GRCm39)	S223P	probably damaging	Het
Or8c13	T	C	9: 38,092,111 (GRCm39)	T3A	probably benign	Het
Orc2	A	G	1: 58,505,231 (GRCm39)	F475L	probably damaging	Het
Oxa1l	T	A	14: 54,604,289 (GRCm39)	L183*	probably null	Het
Pcdh20	T	C	14: 88,704,760 (GRCm39)	T847A	probably damaging	Het
Pcdha6	G	A	18: 37,101,889 (GRCm39)		probably null	Het
Pip5k1a	T	C	3: 94,974,750 (GRCm39)	N376S	probably benign	Het
Pkd1l1	T	C	11: 8,859,889 (GRCm39)	E573G	probably benign	Het
Pkp1	T	A	1: 135,810,335 (GRCm39)		probably null	Het
Pum1	T	C	4: 130,491,438 (GRCm39)	I643T	possibly damaging	Het
Rapgef3	A	G	15: 97,656,318 (GRCm39)	S328P	probably benign	Het
Raver1	A	G	9: 21,001,608 (GRCm39)	V75A	probably damaging	Het
Rbm28	T	C	6: 29,135,408 (GRCm39)	E511G	probably damaging	Het
Satb1	T	A	17: 52,049,823 (GRCm39)	T544S	probably damaging	Het
Sdcbp2	T	C	2: 151,431,135 (GRCm39)	V248A	probably benign	Het
Sema7a	A	G	9: 57,867,942 (GRCm39)	D506G	probably damaging	Het
Septin8	A	G	11: 53,428,044 (GRCm39)	E286G	probably damaging	Het
Sh3pxd2b	A	G	11: 32,372,812 (GRCm39)	I660V	probably damaging	Het
Stk38l	G	T	6: 146,674,826 (GRCm39)	D364Y	possibly damaging	Het
Sycp2	T	C	2: 178,000,498 (GRCm39)		probably null	Het
Tbc1d31	T	A	15: 57,815,062 (GRCm39)	S580T	probably damaging	Het
Tcerg1l	G	A	7: 137,881,775 (GRCm39)	R305C	probably damaging	Het
Tek	T	A	4: 94,743,561 (GRCm39)	Y859N	probably damaging	Het
Tjp1	A	T	7: 64,962,191 (GRCm39)		probably null	Het
Tmem132d	A	T	5: 127,861,859 (GRCm39)	I754N	possibly damaging	Het
Togaram1	G	A	12: 65,063,424 (GRCm39)	V1580I	probably benign	Het
Troap	A	G	15: 98,980,145 (GRCm39)	T442A	probably benign	Het
Ttn	A	T	2: 76,712,097 (GRCm39)		probably benign	Het
Twnk	T	A	19: 44,995,732 (GRCm39)	V55E	possibly damaging	Het
Uggt1	A	T	1: 36,255,234 (GRCm39)	Y225*	probably null	Het
Vmn2r109	A	G	17: 20,760,781 (GRCm39)	*859Q	probably null	Het
Vmn2r17	A	T	5: 109,577,430 (GRCm39)	I494L	probably benign	Het
Vmn2r88	T	C	14: 51,656,029 (GRCm39)	V746A	probably damaging	Het
Yae1d1	A	G	13: 18,166,291 (GRCm39)	L57P	probably damaging	Het
Zfp26	G	A	9: 20,349,137 (GRCm39)	R476*	probably null	Het
Zmynd8	T	A	2: 165,649,618 (GRCm39)	Q816L	probably damaging	Het
Zswim8	A	T	14: 20,763,495 (GRCm39)	H414L	possibly damaging	Het

Other mutations in Kcnh6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00339:Kcnh6	APN	11	105,909,845 (GRCm39)	missense	probably damaging	1.00
IGL01349:Kcnh6	APN	11	105,914,743 (GRCm39)	missense	possibly damaging	0.82
IGL01529:Kcnh6	APN	11	105,911,522 (GRCm39)	missense	probably benign	0.07
IGL01555:Kcnh6	APN	11	105,908,445 (GRCm39)	missense	probably damaging	0.99
IGL01596:Kcnh6	APN	11	105,917,572 (GRCm39)	missense	probably benign	0.02
IGL01808:Kcnh6	APN	11	105,914,753 (GRCm39)	splice site	probably benign
IGL02001:Kcnh6	APN	11	105,918,375 (GRCm39)	splice site	probably benign
IGL02131:Kcnh6	APN	11	105,911,001 (GRCm39)	missense	probably damaging	1.00
IGL02254:Kcnh6	APN	11	105,911,533 (GRCm39)	missense	probably damaging	1.00
IGL02413:Kcnh6	APN	11	105,918,460 (GRCm39)	missense	possibly damaging	0.77
R0089:Kcnh6	UTSW	11	105,899,848 (GRCm39)	missense	probably benign	0.31
R1914:Kcnh6	UTSW	11	105,908,270 (GRCm39)	nonsense	probably null
R1915:Kcnh6	UTSW	11	105,908,270 (GRCm39)	nonsense	probably null
R2265:Kcnh6	UTSW	11	105,924,643 (GRCm39)	missense	probably benign
R2325:Kcnh6	UTSW	11	105,924,661 (GRCm39)	missense	probably benign	0.00
R4449:Kcnh6	UTSW	11	105,909,762 (GRCm39)	missense	probably damaging	0.99
R4548:Kcnh6	UTSW	11	105,899,875 (GRCm39)	missense	probably damaging	1.00
R5095:Kcnh6	UTSW	11	105,908,080 (GRCm39)	missense	possibly damaging	0.92
R5166:Kcnh6	UTSW	11	105,911,145 (GRCm39)	missense	possibly damaging	0.67
R5358:Kcnh6	UTSW	11	105,918,417 (GRCm39)	missense	possibly damaging	0.93
R5445:Kcnh6	UTSW	11	105,914,685 (GRCm39)	missense	probably damaging	1.00
R5708:Kcnh6	UTSW	11	105,911,082 (GRCm39)	missense	probably benign	0.04
R5742:Kcnh6	UTSW	11	105,899,968 (GRCm39)	missense	probably benign	0.32
R6035:Kcnh6	UTSW	11	105,909,978 (GRCm39)	critical splice donor site	probably null
R6035:Kcnh6	UTSW	11	105,909,978 (GRCm39)	critical splice donor site	probably null
R6150:Kcnh6	UTSW	11	105,911,557 (GRCm39)	missense	possibly damaging	0.83
R6827:Kcnh6	UTSW	11	105,899,925 (GRCm39)	missense	probably benign	0.05
R7172:Kcnh6	UTSW	11	105,911,100 (GRCm39)	missense	possibly damaging	0.86
R7329:Kcnh6	UTSW	11	105,908,203 (GRCm39)	missense	probably benign	0.29
R7359:Kcnh6	UTSW	11	105,909,789 (GRCm39)	missense	possibly damaging	0.46
R7542:Kcnh6	UTSW	11	105,905,387 (GRCm39)	missense	possibly damaging	0.68
R7571:Kcnh6	UTSW	11	105,908,242 (GRCm39)	missense	probably benign	0.01
R7580:Kcnh6	UTSW	11	105,908,374 (GRCm39)	missense	probably damaging	1.00
R7703:Kcnh6	UTSW	11	105,914,703 (GRCm39)	missense	probably benign
R7726:Kcnh6	UTSW	11	105,908,401 (GRCm39)	missense	probably benign	0.04
R7837:Kcnh6	UTSW	11	105,924,636 (GRCm39)	missense	probably benign	0.04
R7854:Kcnh6	UTSW	11	105,908,172 (GRCm39)	missense	probably damaging	1.00
R7971:Kcnh6	UTSW	11	105,908,353 (GRCm39)	missense	probably damaging	1.00
R8218:Kcnh6	UTSW	11	105,908,200 (GRCm39)	missense	possibly damaging	0.88
R8274:Kcnh6	UTSW	11	105,910,987 (GRCm39)	missense	probably damaging	1.00
R8351:Kcnh6	UTSW	11	105,911,062 (GRCm39)	missense	probably damaging	0.99
R8991:Kcnh6	UTSW	11	105,909,971 (GRCm39)	missense	possibly damaging	0.65
R9042:Kcnh6	UTSW	11	105,908,464 (GRCm39)	missense	possibly damaging	0.46
R9272:Kcnh6	UTSW	11	105,924,860 (GRCm39)	missense	possibly damaging	0.93
R9273:Kcnh6	UTSW	11	105,924,860 (GRCm39)	missense	possibly damaging	0.93
R9274:Kcnh6	UTSW	11	105,924,860 (GRCm39)	missense	possibly damaging	0.93
R9428:Kcnh6	UTSW	11	105,899,821 (GRCm39)	missense	probably damaging	1.00
X0065:Kcnh6	UTSW	11	105,916,621 (GRCm39)	missense	probably benign
Z1088:Kcnh6	UTSW	11	105,899,874 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CTGTGCTCCCAGAAGGAATG -3'
(R):5'- TTGCACTCTTCAGCCCCAAG -3'

Sequencing Primer
(F):5'- GGAATGACCTTTCCCCAGGACTC -3'
(R):5'- AAGTCACAGGTACAGGGTC -3'

Posted On

2017-12-01