Mutagenetix > Incidental Mutation

Incidental Mutation 'R1843:Kcnq1'

207433

Institutional Source

Beutler Lab

Gene Symbol

Kcnq1

Ensembl Gene

ENSMUSG00000009545

Gene Name

potassium voltage-gated channel, subfamily Q, member 1

Synonyms

KVLQT1, Kcna9

MMRRC Submission

039868-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.318) question?

Stock #

R1843 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

143106362-143427042 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 143183120 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Leucine at position 209 (M209L)

Ref Sequence

ENSEMBL: ENSMUSP00000009689 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000009689] [ENSMUST00000185383]

AlphaFold

P97414

Predicted Effect

probably benign
Transcript: ENSMUST00000009689
AA Change: M209L

PolyPhen 2 Score 0.032 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000009689
Gene: ENSMUSG00000009545
AA Change: M209L

Domain	Start	End	E-Value	Type
Pfam:Ion_trans	121	358	7.5e-28	PFAM
Pfam:Ion_trans_2	261	351	5.9e-13	PFAM
low complexity region	404	427	N/A	INTRINSIC
Pfam:KCNQ_channel	480	624	1e-27	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000185383
AA Change: M145L

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000139548
Gene: ENSMUSG00000009545
AA Change: M145L

Domain	Start	End	E-Value	Type
transmembrane domain	58	80	N/A	INTRINSIC
Pfam:Ion_trans	93	282	1.4e-23	PFAM
Pfam:Ion_trans_2	198	287	1.2e-11	PFAM
low complexity region	340	363	N/A	INTRINSIC
low complexity region	422	433	N/A	INTRINSIC

Coding Region Coverage

1x: 97.5%
3x: 96.9%
10x: 95.3%
20x: 92.4%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a voltage-gated potassium channel required for repolarization phase of the cardiac action potential. This protein can form heteromultimers with two other potassium channel proteins, KCNE1 and KCNE3. Mutations in this gene are associated with hereditary long QT syndrome 1 (also known as Romano-Ward syndrome), Jervell and Lange-Nielsen syndrome, and familial atrial fibrillation. This gene exhibits tissue-specific imprinting, with preferential expression from the maternal allele in some tissues, and biallelic expression in others. This gene is located in a region of chromosome 11 amongst other imprinted genes that are associated with Beckwith-Wiedemann syndrome (BWS), and itself has been shown to be disrupted by chromosomal rearrangements in patients with BWS. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Aug 2011]
PHENOTYPE: Homozygous targeted null or spontaneous mutants show circling and head-tossing behavior and are deaf with inner ear dysmorphology. Paternal inheritance of a deletion of an imprinted control region within an intron of this gene results in small body size. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 102 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933405L10Rik	C	T	8: 105,708,974	T88M	probably damaging	Het
9130011E15Rik	A	C	19: 45,975,252	S42R	probably benign	Het
9430038I01Rik	A	G	7: 137,377,066		probably benign	Het
Adgra3	A	C	5: 49,961,492	S905A	probably damaging	Het
Adgrv1	A	G	13: 81,544,533	Y1618H	probably damaging	Het
Anapc15-ps	T	C	10: 95,673,314	T26A	probably benign	Het
Ankrd13d	T	C	19: 4,271,595	K360E	probably damaging	Het
Anks1b	T	A	10: 90,512,889		probably null	Het
Apob	T	C	12: 8,007,602	F2028S	possibly damaging	Het
Arap3	G	A	18: 37,975,583	R1265W	probably damaging	Het
Arhgef37	A	G	18: 61,518,050	Y135H	probably damaging	Het
Atp1a1	T	C	3: 101,582,017	T760A	probably benign	Het
Cdc42bpb	T	A	12: 111,322,821	M497L	probably benign	Het
Ces5a	C	T	8: 93,514,231	V413M	probably damaging	Het
Chd5	A	T	4: 152,385,806	Y1903F	probably damaging	Het
Chd9	T	A	8: 91,010,794	N1500K	probably benign	Het
Chmp7	G	T	14: 69,719,799	D303E	probably benign	Het
Chrnb4	A	T	9: 55,034,818	Y391N	possibly damaging	Het
Crtc1	T	C	8: 70,388,152	T475A	probably benign	Het
Cyp2c69	A	G	19: 39,877,528	I207T	probably benign	Het
Dcp1a	A	G	14: 30,518,983	E250G	probably damaging	Het
Ddx20	T	C	3: 105,679,082	Q649R	probably benign	Het
Defb12	T	A	8: 19,112,738	K59N	probably damaging	Het
Dpy19l3	A	T	7: 35,729,760	I85N	probably damaging	Het
Duox2	C	T	2: 122,292,258		probably null	Het
E430018J23Rik	A	C	7: 127,391,488	D442E	probably benign	Het
Ebi3	T	A	17: 55,956,679	Y197N	probably damaging	Het
Emc1	G	A	4: 139,375,512	R994Q	probably benign	Het
Ercc6	G	T	14: 32,546,820	M530I	probably damaging	Het
Evl	T	A	12: 108,652,996	D70E	probably damaging	Het
Fam35a	A	G	14: 34,267,803	I382T	probably benign	Het
Fbln2	A	G	6: 91,265,775	N819S	probably damaging	Het
Foxk2	A	G	11: 121,285,537	I170V	probably benign	Het
Gfm1	T	C	3: 67,435,610	V159A	probably damaging	Het
Gm10837	A	G	14: 122,490,765	T18A	unknown	Het
Gm12887	A	T	4: 121,622,030	V25E	probably damaging	Het
Hectd4	A	G	5: 121,297,180	H985R	possibly damaging	Het
Hsfy2	A	G	1: 56,636,632	Y249H	possibly damaging	Het
Hspg2	T	C	4: 137,545,567	V2639A	probably damaging	Het
Igf2r	A	G	17: 12,704,270		probably null	Het
Invs	T	A	4: 48,422,035	I889N	probably damaging	Het
Klra7	A	G	6: 130,229,994	I48T	possibly damaging	Het
Krt26	CTAGTA	CTA	11: 99,333,526		probably benign	Het
Lrif1	T	A	3: 106,732,811	V404D	probably damaging	Het
Lrriq1	T	A	10: 103,227,173		probably null	Het
Lypd6	T	A	2: 50,188,762	I90N	possibly damaging	Het
Mbp	A	G	18: 82,584,122	D174G	probably damaging	Het
Megf9	G	T	4: 70,534,785	P13Q	probably damaging	Het
Myo15b	A	T	11: 115,869,586	T1155S	probably benign	Het
Nlrp6	T	A	7: 140,923,093	C371S	probably damaging	Het
Nosip	T	A	7: 45,077,309		probably null	Het
Nox3	G	T	17: 3,669,878	P344H	probably damaging	Het
Nup210l	T	C	3: 90,172,086	V959A	probably damaging	Het
Olfr1360	C	A	13: 21,674,672	V91L	probably benign	Het
Olfr1475	A	G	19: 13,479,931	I89T	probably benign	Het
Olfr175-ps1	T	A	16: 58,824,077	I211F	probably damaging	Het
Olfr267	T	C	4: 58,785,384	I113V	probably benign	Het
Olfr959	A	G	9: 39,572,735	Y175H	possibly damaging	Het
Osbpl3	A	C	6: 50,370,143	S25A	probably damaging	Het
Otog	G	A	7: 46,246,283	C107Y	probably damaging	Het
Pax7	G	A	4: 139,784,491	R260C	probably damaging	Het
Pbrm1	A	T	14: 31,038,957	I224F	probably damaging	Het
Pcdh1	T	A	18: 38,192,225		probably null	Het
Pcnx	T	C	12: 81,980,935	L1585P	probably damaging	Het
Pde4c	C	T	8: 70,747,950	H362Y	probably damaging	Het
Pdlim2	C	T	14: 70,164,779	R296H	probably damaging	Het
Pgm2	A	T	4: 99,961,478	Q90L	probably damaging	Het
Phlpp1	A	G	1: 106,343,505	H814R	probably benign	Het
Pknox2	A	T	9: 36,954,831	M5K	possibly damaging	Het
Pole	G	A	5: 110,330,835		probably null	Het
Polr1b	A	G	2: 129,102,966	I61V	probably benign	Het
Prelp	T	C	1: 133,914,757	K217E	probably damaging	Het
Prkce	C	T	17: 86,475,546	Q202*	probably null	Het
Psmd2	T	G	16: 20,656,582	M370R	probably benign	Het
Rimklb	A	T	6: 122,464,009	H68Q	probably damaging	Het
Rnasel	A	G	1: 153,754,674	D312G	possibly damaging	Het
Rxrg	A	T	1: 167,598,752	M1L	probably benign	Het
Scrn1	A	G	6: 54,522,841	F220L	possibly damaging	Het
Scyl3	A	G	1: 163,950,675	S461G	probably benign	Het
Serpina1c	T	A	12: 103,895,023	T411S	probably benign	Het
Serpinb6d	C	T	13: 33,671,381	P346L	probably benign	Het
Slc9a3r2	C	T	17: 24,641,719	S150N	possibly damaging	Het
Spg21	G	T	9: 65,465,336	V17F	probably damaging	Het
Spink5	A	T	18: 43,999,891	M525L	probably benign	Het
Sun2	T	C	15: 79,737,563	T155A	probably benign	Het
Tchh	T	A	3: 93,446,780	F1176I	unknown	Het
Tex15	T	A	8: 33,576,654	D2037E	probably benign	Het
Tfdp2	T	C	9: 96,317,804	C392R	possibly damaging	Het
Tmem30c	T	C	16: 57,276,780	N139S	probably benign	Het
Tns2	C	T	15: 102,113,133		probably null	Het
Trim66	T	C	7: 109,475,839	E405G	probably damaging	Het
Trpc4	T	A	3: 54,279,994	F456I	probably benign	Het
Tspo2	T	C	17: 48,448,790	D108G	possibly damaging	Het
Tyk2	A	T	9: 21,121,554	C304*	probably null	Het
Vgll4	A	T	6: 114,862,795	S185T	probably benign	Het
Vmn2r94	A	C	17: 18,244,470	S519R	probably benign	Het
Vmn2r96	T	G	17: 18,597,921	S587A	probably benign	Het
Vps4b	C	A	1: 106,778,982	A287S	possibly damaging	Het
Yeats2	C	T	16: 20,229,564	P1332S	probably benign	Het
Zfp462	T	G	4: 55,010,010	S659A	possibly damaging	Het
Zfp507	C	T	7: 35,793,725	R631Q	probably damaging	Het
Zswim5	G	T	4: 116,877,699	E80D	unknown	Het

Other mutations in Kcnq1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01458:Kcnq1	APN	7	143194278	nonsense	probably null
IGL01936:Kcnq1	APN	7	143184504	missense	possibly damaging	0.83
IGL02134:Kcnq1	APN	7	143183716	missense	possibly damaging	0.66
IGL02613:Kcnq1	APN	7	143426126	unclassified	probably benign
R0841:Kcnq1	UTSW	7	143107452	missense	probably benign	0.07
R2571:Kcnq1	UTSW	7	143107696	missense	probably benign	0.35
R2910:Kcnq1	UTSW	7	143425962	missense	probably damaging	1.00
R3943:Kcnq1	UTSW	7	143426088	missense	probably damaging	1.00
R4274:Kcnq1	UTSW	7	143184442	missense	probably damaging	1.00
R4686:Kcnq1	UTSW	7	143107729	missense	probably benign	0.44
R4795:Kcnq1	UTSW	7	143182757	missense	probably benign	0.01
R5133:Kcnq1	UTSW	7	143194346	critical splice donor site	probably null
R5151:Kcnq1	UTSW	7	143426012	missense	probably benign
R5658:Kcnq1	UTSW	7	143363695	critical splice donor site	probably null
R5732:Kcnq1	UTSW	7	143148756	intron	probably benign
R5990:Kcnq1	UTSW	7	143261368	missense	probably damaging	1.00
R6025:Kcnq1	UTSW	7	143106433	unclassified	probably benign
R6111:Kcnq1	UTSW	7	143107737	missense	probably benign	0.00
R6534:Kcnq1	UTSW	7	143194327	missense	probably benign	0.16
R7196:Kcnq1	UTSW	7	143358741	missense	possibly damaging	0.91
R7409:Kcnq1	UTSW	7	143109415	missense	unknown
R7790:Kcnq1	UTSW	7	143106605	splice site	probably null
R8093:Kcnq1	UTSW	7	143362652	missense	probably damaging	1.00
R8414:Kcnq1	UTSW	7	143363666	missense	probably damaging	1.00
R8465:Kcnq1	UTSW	7	143425974	missense	probably benign	0.03
R9379:Kcnq1	UTSW	7	143191432	missense	probably damaging	1.00
R9776:Kcnq1	UTSW	7	143183631	missense	probably damaging	0.99
Z1177:Kcnq1	UTSW	7	143108464	unclassified	probably benign

Predicted Primers

PCR Primer
(F):5'- TCCATTCCACACATTCATGGG -3'
(R):5'- TGTGCCACTCACCATGAAAG -3'

Sequencing Primer
(F):5'- ATTCCACACATTCATGGGTCCAG -3'
(R):5'- CACTCACCATGAAAGAGACAGGTAG -3'

Posted On

2014-06-23