Mutagenetix > Incidental Mutations

Incidental Mutation 'R6753:Kcnh7'

530871

Institutional Source

Beutler Lab

Gene Symbol

Kcnh7

Ensembl Gene

ENSMUSG00000059742

Gene Name

potassium voltage-gated channel, subfamily H (eag-related), member 7

Synonyms

Kv11.3, 9330137I11Rik, erg3

MMRRC Submission

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.116) question?

Stock #

R6753 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

62693414-63184287 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 62850377 bp

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Leucine at position 289 (I289L)

Ref Sequence

ENSEMBL: ENSMUSP00000108073 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000075052] [ENSMUST00000112452] [ENSMUST00000112454]

Predicted Effect

probably benign
Transcript: ENSMUST00000075052
AA Change: I289L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000074563
Gene: ENSMUSG00000059742
AA Change: I289L

Domain	Start	End	E-Value	Type
PAS	20	87	8.97e0	SMART
PAC	93	135	3.48e-1	SMART
Pfam:Ion_trans	407	674	4.9e-39	PFAM
Pfam:Ion_trans_2	588	668	3.2e-13	PFAM
cNMP	745	863	1.5e-23	SMART
low complexity region	921	940	N/A	INTRINSIC
coiled coil region	1022	1058	N/A	INTRINSIC
low complexity region	1114	1127	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000112452
AA Change: I289L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000108071
Gene: ENSMUSG00000059742
AA Change: I289L

Domain	Start	End	E-Value	Type
PAS	20	87	8.97e0	SMART
PAC	93	135	3.48e-1	SMART
Blast:MYSc	309	426	4e-24	BLAST
low complexity region	446	461	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000112454
AA Change: I289L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000108073
Gene: ENSMUSG00000059742
AA Change: I289L

Domain	Start	End	E-Value	Type
PAS	20	87	8.97e0	SMART
PAC	93	135	3.48e-1	SMART
Blast:MYSc	316	433	3e-24	BLAST
low complexity region	453	468	N/A	INTRINSIC

Meta Mutation Damage Score

0.0599

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.3%
20x: 95.1%

Validation Efficiency

99% (68/69)

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. There are at least two alternatively spliced transcript variants derived from this gene and encoding distinct isoforms. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aatk	G	A	11: 120,010,151	P1083S	probably benign	Het
Abcb5	T	A	12: 118,944,906	N101I	possibly damaging	Het
Adrb2	A	G	18: 62,179,553	V67A	possibly damaging	Het
Agk	T	A	6: 40,368,570		probably null	Het
Akap10	A	T	11: 61,886,777	M586K	probably damaging	Het
Akt3	A	T	1: 177,050,190	Y337*	probably null	Het
Armc1	A	G	3: 19,144,398	F133L	possibly damaging	Het
Bank1	T	C	3: 136,093,308	E424G	probably damaging	Het
Cacna1a	A	G	8: 84,580,205	E1363G	probably damaging	Het
Cacna1d	C	A	14: 30,042,786	A2076S	probably damaging	Het
Ccdc73	T	A	2: 104,991,524	L606*	probably null	Het
Ccdc8	C	T	7: 16,996,637	Q684*	probably null	Het
Ces1b	T	A	8: 93,067,020	K314*	probably null	Het
Ces1e	T	A	8: 93,215,128	N238I	probably damaging	Het
Chd4	A	G	6: 125,114,300	N1238S	probably benign	Het
Cmtr2	T	A	8: 110,222,979	D640E	probably damaging	Het
Col7a1	C	T	9: 108,958,128	T559I	unknown	Het
Comt	T	C	16: 18,408,021	K205R	probably benign	Het
Dbp	A	T	7: 45,708,404	E232V	probably damaging	Het
Dcbld2	A	G	16: 58,456,130	T470A	possibly damaging	Het
Eml6	T	A	11: 29,754,987	D1519V	probably damaging	Het
Evpl	T	A	11: 116,237,906	H31L	possibly damaging	Het
Exoc1	T	A	5: 76,563,339	I86N	probably damaging	Het
Fat3	C	T	9: 15,915,061	E4532K	possibly damaging	Het
Fgfr3	T	C	5: 33,732,159	S301P	probably benign	Het
Gas2l1	C	T	11: 5,064,254	V69I	probably damaging	Het
Gm2042	T	A	12: 87,958,084	I107K	probably damaging	Het
Gucy1b1	T	C	3: 82,039,747	D385G	probably null	Het
Ints1	T	A	5: 139,765,175	E824D	probably damaging	Het
Itfg1	T	C	8: 85,835,078	D142G	probably benign	Het
Jaml	A	G	9: 45,107,379	N359D	probably benign	Het
Klf12	G	A	14: 100,109,776	Q40*	probably null	Het
Mcm4	A	C	16: 15,629,362	N579K	possibly damaging	Het
Mfsd2b	A	T	12: 4,867,358	F179I	possibly damaging	Het
Mmp11	C	T	10: 75,928,374	V86M	probably damaging	Het
Mogs	T	C	6: 83,115,882	V101A	probably damaging	Het
Narf	T	A	11: 121,242,626	H84Q	probably benign	Het
Olfr987	C	A	2: 85,331,798	M33I	probably benign	Het
Otog	A	C	7: 46,249,071	E204D	probably benign	Het
Parp8	G	A	13: 116,895,115	H354Y	possibly damaging	Het
Pcnx	C	A	12: 81,964,480	D1238E	probably damaging	Het
Pi4ka	A	G	16: 17,376,982	L184P	possibly damaging	Het
Pkd1l3	C	T	8: 109,624,449	T642I	probably damaging	Het
Pkhd1l1	G	A	15: 44,589,663	E3995K	probably benign	Het
Prdm9	A	T	17: 15,544,956	Y521N	probably benign	Het
Prex2	A	G	1: 11,184,456	S1105G	probably damaging	Het
Prss35	T	A	9: 86,756,100	F308I	probably damaging	Het
Rab22a	C	T	2: 173,701,055	A167V	probably benign	Het
Rims2	A	G	15: 39,566,973	Q871R	possibly damaging	Het
Rorb	A	T	19: 18,957,247	M253K	probably benign	Het
Ryr3	T	C	2: 112,652,610	D4269G	probably damaging	Het
Snx11	T	C	11: 96,769,906		probably benign	Het
Son	A	G	16: 91,657,188	Q941R	probably damaging	Het
Sptbn2	G	T	19: 4,747,785	R1880L	probably benign	Het
Sun1	G	A	5: 139,215,259		probably null	Het
Tprn	A	G	2: 25,264,038	R451G	probably benign	Het
Trbv30	T	A	6: 41,281,377	M1K	probably null	Het
Ttn	C	A	2: 76,738,221	G25697W	probably damaging	Het
Ubb	T	G	11: 62,551,527		probably null	Het
Unc13b	C	T	4: 43,239,331	R1038C	probably damaging	Het
Usp7	T	C	16: 8,696,911	M687V	probably benign	Het
Zfp160	G	A	17: 21,020,734	M21I	probably benign	Het
Zfp868	T	C	8: 69,612,096	N196S	probably benign	Het
Zufsp	A	T	10: 33,928,029	I483N	probably damaging	Het

Other mutations in Kcnh7

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00513:Kcnh7	APN	2	62764691	missense	probably benign	0.01
IGL00693:Kcnh7	APN	2	62734254	missense	probably benign	0.06
IGL00776:Kcnh7	APN	2	62850376	missense	probably benign	0.00
IGL00956:Kcnh7	APN	2	62777639	missense	probably damaging	1.00
IGL01651:Kcnh7	APN	2	62734284	missense	possibly damaging	0.47
IGL01780:Kcnh7	APN	2	62837163	missense	probably benign	0.17
IGL01859:Kcnh7	APN	2	62721788	missense	probably benign	0.00
IGL02213:Kcnh7	APN	2	62739362	missense	probably damaging	1.00
IGL02302:Kcnh7	APN	2	62706058	missense	probably damaging	1.00
IGL02526:Kcnh7	APN	2	62850437	missense	possibly damaging	0.46
IGL02850:Kcnh7	APN	2	62787685	nonsense	probably null
IGL02989:Kcnh7	APN	2	62721925	missense	probably benign
IGL02990:Kcnh7	APN	2	62705986	missense	probably benign	0.11
G1citation:Kcnh7	UTSW	2	62787904	missense	probably damaging	1.00
LCD18:Kcnh7	UTSW	2	63049799	intron	probably benign
R0129:Kcnh7	UTSW	2	62716159	missense	probably benign	0.00
R0622:Kcnh7	UTSW	2	62837289	splice site	probably null
R0638:Kcnh7	UTSW	2	62777510	missense	probably benign	0.13
R1006:Kcnh7	UTSW	2	62716183	missense	probably benign	0.00
R1200:Kcnh7	UTSW	2	62777395	missense	probably damaging	1.00
R1330:Kcnh7	UTSW	2	62777411	missense	possibly damaging	0.56
R1614:Kcnh7	UTSW	2	62850604	missense	probably benign	0.03
R1782:Kcnh7	UTSW	2	62736169	missense	probably damaging	1.00
R1861:Kcnh7	UTSW	2	62777392	missense	probably damaging	0.97
R1862:Kcnh7	UTSW	2	62787754	missense	possibly damaging	0.46
R2197:Kcnh7	UTSW	2	62777606	missense	probably damaging	1.00
R2510:Kcnh7	UTSW	2	62721917	missense	probably benign
R2988:Kcnh7	UTSW	2	62721828	missense	probably benign	0.20
R3024:Kcnh7	UTSW	2	62764663	missense	probably damaging	1.00
R3433:Kcnh7	UTSW	2	62721917	missense	probably benign
R4415:Kcnh7	UTSW	2	62706073	missense	probably damaging	1.00
R4540:Kcnh7	UTSW	2	62739186	missense	probably damaging	1.00
R4570:Kcnh7	UTSW	2	62837095	missense	possibly damaging	0.91
R4827:Kcnh7	UTSW	2	62716220	missense	probably benign
R4990:Kcnh7	UTSW	2	62734288	missense	probably benign	0.00
R5172:Kcnh7	UTSW	2	62739164	missense	possibly damaging	0.88
R5822:Kcnh7	UTSW	2	62716238	missense	probably benign
R5996:Kcnh7	UTSW	2	63184097	start gained	probably benign
R6142:Kcnh7	UTSW	2	62739360	missense	possibly damaging	0.95
R6226:Kcnh7	UTSW	2	62777559	missense	probably damaging	1.00
R6244:Kcnh7	UTSW	2	63182226	missense	probably damaging	1.00
R6304:Kcnh7	UTSW	2	62764616	nonsense	probably null
R6400:Kcnh7	UTSW	2	62739344	missense	probably damaging	1.00
R6430:Kcnh7	UTSW	2	62850532	missense	probably benign	0.04
R6483:Kcnh7	UTSW	2	62845774	missense	probably benign	0.06
R6614:Kcnh7	UTSW	2	62777596	missense	probably damaging	1.00
R6822:Kcnh7	UTSW	2	62787904	missense	probably damaging	1.00
R6863:Kcnh7	UTSW	2	62787685	missense	possibly damaging	0.83
R7104:Kcnh7	UTSW	2	62787687	missense	possibly damaging	0.82
R7116:Kcnh7	UTSW	2	62877270	missense	probably benign	0.02
R7263:Kcnh7	UTSW	2	62735970	splice site	probably null
R7657:Kcnh7	UTSW	2	62736035	missense	probably damaging	1.00
R7855:Kcnh7	UTSW	2	62837194	nonsense	probably null
R7968:Kcnh7	UTSW	2	62736100	missense	probably damaging	1.00
R8183:Kcnh7	UTSW	2	62702977	missense	probably damaging	0.99
R8343:Kcnh7	UTSW	2	62850535	missense	probably benign	0.01
R8405:Kcnh7	UTSW	2	62703102	missense	probably benign	0.04
R8411:Kcnh7	UTSW	2	62764608	missense	probably damaging	1.00
R8493:Kcnh7	UTSW	2	62850659	missense	probably benign	0.31
R8744:Kcnh7	UTSW	2	63182089	missense	possibly damaging	0.93
X0011:Kcnh7	UTSW	2	62764723	missense	probably damaging	0.99
Z1088:Kcnh7	UTSW	2	62736103	missense	probably damaging	1.00
Z1088:Kcnh7	UTSW	2	63184068	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CTCACTAGGGTTCAAAGAGGAAATG -3'
(R):5'- ATACAGCCTAGCCAGTGTTCTC -3'

Sequencing Primer
(F):5'- ATGCAACGCTCGTGTTT -3'
(R):5'- CCTTAGTGAACATATCAGGACCTCTG -3'

Posted On

2018-08-01