Mutagenetix > Incidental Mutation

Incidental Mutation 'R5133:Kcnq1'

395933

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

042721-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.330) question?

Stock #

R5133 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

142660614-142980787 bp(+) (GRCm39)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

T to C at 142748083 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000139548 (fasta)

Gene Model

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

AlphaFold

P97414

Predicted Effect

probably null
Transcript: ENSMUST00000009689

SMART Domains

Protein: ENSMUSP00000009689
Gene: ENSMUSG00000009545

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 null
Transcript: ENSMUST00000185383

SMART Domains

Protein: ENSMUSP00000139548
Gene: ENSMUSG00000009545

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: 99.3%
3x: 98.6%
10x: 96.9%
20x: 94.0%

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: 101 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A3galt2	A	T	4: 128,655,934 (GRCm39)	T101S	probably damaging	Het
Abraxas2	C	T	7: 132,484,875 (GRCm39)	A306V	probably benign	Het
Acvr1c	T	A	2: 58,173,518 (GRCm39)	N248I	probably damaging	Het
Adgrv1	C	T	13: 81,587,560 (GRCm39)	R4537Q	probably damaging	Het
Adrb3	A	C	8: 27,717,798 (GRCm39)	M217R	probably damaging	Het
Afg3l1	T	C	8: 124,216,532 (GRCm39)	V257A	probably benign	Het
Agbl1	C	A	7: 76,071,904 (GRCm39)	Q334K	probably benign	Het
Aox4	A	T	1: 58,275,835 (GRCm39)	D389V	probably benign	Het
Apob	A	T	12: 8,058,898 (GRCm39)	Q2427L	probably damaging	Het
Asxl3	T	C	18: 22,649,765 (GRCm39)	C585R	probably damaging	Het
Baz2a	G	A	10: 127,951,995 (GRCm39)	G571D	probably damaging	Het
Baz2b	A	T	2: 59,792,368 (GRCm39)	S587T	probably benign	Het
Bicdl2	T	C	17: 23,880,795 (GRCm39)	L14P	unknown	Het
Cachd1	G	A	4: 100,851,935 (GRCm39)	S1177N	probably damaging	Het
Cacna2d3	A	G	14: 29,015,135 (GRCm39)	F86L	possibly damaging	Het
Ccdc192	C	T	18: 57,697,041 (GRCm39)	T65I	possibly damaging	Het
Cd3d	A	T	9: 44,896,296 (GRCm39)	E28D	probably damaging	Het
Cmya5	T	C	13: 93,229,880 (GRCm39)	K1736R	possibly damaging	Het
Col12a1	A	G	9: 79,512,456 (GRCm39)	V2913A	probably damaging	Het
Cops8	A	G	1: 90,538,724 (GRCm39)	D51G	probably damaging	Het
Csgalnact1	T	C	8: 68,913,623 (GRCm39)	E194G	probably benign	Het
Csn1s1	A	G	5: 87,828,737 (GRCm39)	D267G	possibly damaging	Het
Cyp2c40	T	C	19: 39,795,663 (GRCm39)	N172S	probably benign	Het
Dhtkd1	T	A	2: 5,908,813 (GRCm39)	K760N	probably damaging	Het
Dnah17	T	C	11: 118,007,939 (GRCm39)	K691E	probably benign	Het
Dppa4	G	A	16: 48,113,334 (GRCm39)	R189Q	probably benign	Het
Dsp	G	A	13: 38,381,678 (GRCm39)	D2808N	possibly damaging	Het
Egr2	A	G	10: 67,375,605 (GRCm39)	E17G	probably damaging	Het
Ehmt1	G	T	2: 24,767,509 (GRCm39)	P135T	probably damaging	Het
Epas1	A	G	17: 87,116,882 (GRCm39)	N184S	probably damaging	Het
Ezh2	C	T	6: 47,517,684 (GRCm39)	C584Y	probably damaging	Het
F10	T	C	8: 13,105,698 (GRCm39)	V421A	probably damaging	Het
Fabp3	C	T	4: 130,206,180 (GRCm39)	T57I	probably benign	Het
Fam186a	T	G	15: 99,853,374 (GRCm39)	D122A	unknown	Het
Fam227b	G	A	2: 125,958,043 (GRCm39)	P241S	probably damaging	Het
Fam234b	T	C	6: 135,186,193 (GRCm39)	V67A	probably benign	Het
Fbn2	T	C	18: 58,172,412 (GRCm39)	D2131G	probably damaging	Het
Fgfr4	T	C	13: 55,307,828 (GRCm39)	Y271H	probably damaging	Het
Gnmt	A	T	17: 47,036,860 (GRCm39)	S250T	probably benign	Het
Golgb1	C	A	16: 36,711,819 (GRCm39)	Q208K	possibly damaging	Het
Grn	C	A	11: 102,321,380 (GRCm39)		probably benign	Het
Grwd1	T	C	7: 45,475,298 (GRCm39)	T415A	probably benign	Het
Gsk3b	G	A	16: 38,060,882 (GRCm39)	R418H	probably damaging	Het
Hap1	T	G	11: 100,242,357 (GRCm39)	M382L	probably benign	Het
Hspa12b	A	G	2: 130,981,428 (GRCm39)	E221G	possibly damaging	Het
Hspa4l	T	A	3: 40,741,179 (GRCm39)	D709E	possibly damaging	Het
Il17ra	A	G	6: 120,458,514 (GRCm39)	E555G	possibly damaging	Het
Il27ra	T	C	8: 84,760,688 (GRCm39)	T426A	possibly damaging	Het
Jup	T	C	11: 100,273,941 (GRCm39)	D200G	probably benign	Het
Kctd9	C	T	14: 67,966,805 (GRCm39)	T106I	probably damaging	Het
Kmt5b	T	A	19: 3,852,240 (GRCm39)	H159Q	probably damaging	Het
Kprp	C	T	3: 92,731,829 (GRCm39)	R407Q	unknown	Het
Kras	T	C	6: 145,177,879 (GRCm39)	Q131R	probably benign	Het
Krt16	T	A	11: 100,138,457 (GRCm39)	R230S	probably damaging	Het
Lpar6	G	A	14: 73,476,147 (GRCm39)	C36Y	probably damaging	Het
Lrp10	T	C	14: 54,707,067 (GRCm39)	S635P	probably benign	Het
Mapre2	C	A	18: 23,991,190 (GRCm39)	H153N	possibly damaging	Het
Mark3	C	A	12: 111,621,762 (GRCm39)	R703S	probably damaging	Het
Mboat2	A	G	12: 25,009,065 (GRCm39)	D457G	probably benign	Het
Med13	T	C	11: 86,210,675 (GRCm39)	D489G	probably benign	Het
Msh2	C	A	17: 88,030,841 (GRCm39)	A906E	probably benign	Het
Mtus1	T	C	8: 41,536,229 (GRCm39)	T496A	probably benign	Het
Nckap5	T	C	1: 125,961,697 (GRCm39)	H204R	probably benign	Het
Nlrc4	G	T	17: 74,753,712 (GRCm39)	P224T	possibly damaging	Het
Oprl1	T	A	2: 181,360,403 (GRCm39)	I153N	probably damaging	Het
Or13a27	A	T	7: 139,925,236 (GRCm39)	I222N	probably damaging	Het
Or4c116	A	T	2: 88,942,140 (GRCm39)		probably null	Het
Or5an1	T	C	19: 12,260,670 (GRCm39)	L86P	possibly damaging	Het
Or5b121	T	A	19: 13,507,442 (GRCm39)	M135K	probably damaging	Het
Otud4	G	A	8: 80,382,318 (GRCm39)	V176I	probably damaging	Het
Pcdhb5	T	C	18: 37,453,943 (GRCm39)	F108L	probably benign	Het
Pde8b	T	C	13: 95,223,250 (GRCm39)	I335V	probably benign	Het
Pdzd7	T	A	19: 45,016,868 (GRCm39)	I886L	possibly damaging	Het
Prune2	C	T	19: 16,980,995 (GRCm39)	P51S	probably damaging	Het
Ptpre	C	T	7: 135,270,861 (GRCm39)	H346Y	probably benign	Het
Pwwp3a	T	C	10: 80,068,702 (GRCm39)	L282P	probably benign	Het
Rab27b	T	C	18: 70,122,659 (GRCm39)	D100G	probably damaging	Het
Rpf1	A	G	3: 146,212,293 (GRCm39)	L349S	probably damaging	Het
Samd14	T	C	11: 94,912,409 (GRCm39)	S233P	probably damaging	Het
Sema6a	C	A	18: 47,433,195 (GRCm39)	V79F	probably damaging	Het
Setbp1	A	G	18: 78,900,697 (GRCm39)	I990T	probably damaging	Het
Setx	A	G	2: 29,070,093 (GRCm39)	R2633G	probably benign	Het
Siae	T	G	9: 37,557,816 (GRCm39)	I541S	possibly damaging	Het
Slc13a1	A	G	6: 24,103,428 (GRCm39)	S372P	possibly damaging	Het
Smarcc2	T	C	10: 128,297,342 (GRCm39)		probably null	Het
Snrpf	T	C	10: 93,423,985 (GRCm39)	S2G	probably benign	Het
Speer2	C	A	16: 69,655,708 (GRCm39)	K39N	probably null	Het
Spink5	T	G	18: 44,119,490 (GRCm39)	F267C	probably damaging	Het
Tgfbrap1	G	T	1: 43,114,666 (GRCm39)	R145S	probably damaging	Het
Tmem161b	C	A	13: 84,442,887 (GRCm39)	T269K	possibly damaging	Het
Tmem64	T	C	4: 15,281,119 (GRCm39)	I304T	probably damaging	Het
Tomm7	A	G	5: 24,049,004 (GRCm39)	I23T	probably benign	Het
Top6bl	T	A	19: 4,708,449 (GRCm39)	S194C	probably damaging	Het
Ttn	A	T	2: 76,641,587 (GRCm39)	L5176Q	possibly damaging	Het
Ttr	C	T	18: 20,803,167 (GRCm39)	A111V	possibly damaging	Het
Usp47	T	A	7: 111,683,089 (GRCm39)	Y561N	probably damaging	Het
Vmn1r17	A	G	6: 57,337,828 (GRCm39)	V130A	probably benign	Het
Wdr45b	A	G	11: 121,219,621 (GRCm39)	I309T	probably benign	Het
Wnt6	T	C	1: 74,823,755 (GRCm39)	L364P	probably damaging	Het
Zc3h13	T	C	14: 75,573,449 (GRCm39)	L1530P	probably damaging	Het
Zfp933	A	G	4: 147,911,321 (GRCm39)	W60R	probably benign	Het

Other mutations in Kcnq1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01458:Kcnq1	APN	7	142,748,015 (GRCm39)	nonsense	probably null
IGL01936:Kcnq1	APN	7	142,738,241 (GRCm39)	missense	possibly damaging	0.83
IGL02134:Kcnq1	APN	7	142,737,453 (GRCm39)	missense	possibly damaging	0.66
IGL02613:Kcnq1	APN	7	142,979,863 (GRCm39)	unclassified	probably benign
R0841:Kcnq1	UTSW	7	142,661,189 (GRCm39)	missense	probably benign	0.07
R1843:Kcnq1	UTSW	7	142,736,857 (GRCm39)	missense	probably benign	0.03
R2571:Kcnq1	UTSW	7	142,661,433 (GRCm39)	missense	probably benign	0.35
R2910:Kcnq1	UTSW	7	142,979,699 (GRCm39)	missense	probably damaging	1.00
R3943:Kcnq1	UTSW	7	142,979,825 (GRCm39)	missense	probably damaging	1.00
R4274:Kcnq1	UTSW	7	142,738,179 (GRCm39)	missense	probably damaging	1.00
R4686:Kcnq1	UTSW	7	142,661,466 (GRCm39)	missense	probably benign	0.44
R4795:Kcnq1	UTSW	7	142,736,494 (GRCm39)	missense	probably benign	0.01
R5151:Kcnq1	UTSW	7	142,979,749 (GRCm39)	missense	probably benign
R5658:Kcnq1	UTSW	7	142,917,432 (GRCm39)	critical splice donor site	probably null
R5732:Kcnq1	UTSW	7	142,702,493 (GRCm39)	intron	probably benign
R5990:Kcnq1	UTSW	7	142,815,105 (GRCm39)	missense	probably damaging	1.00
R6025:Kcnq1	UTSW	7	142,660,170 (GRCm39)	unclassified	probably benign
R6111:Kcnq1	UTSW	7	142,661,474 (GRCm39)	missense	probably benign	0.00
R6534:Kcnq1	UTSW	7	142,748,064 (GRCm39)	missense	probably benign	0.16
R7196:Kcnq1	UTSW	7	142,912,478 (GRCm39)	missense	possibly damaging	0.91
R7409:Kcnq1	UTSW	7	142,663,152 (GRCm39)	missense	unknown
R7790:Kcnq1	UTSW	7	142,660,342 (GRCm39)	splice site	probably null
R8093:Kcnq1	UTSW	7	142,916,389 (GRCm39)	missense	probably damaging	1.00
R8414:Kcnq1	UTSW	7	142,917,403 (GRCm39)	missense	probably damaging	1.00
R8465:Kcnq1	UTSW	7	142,979,711 (GRCm39)	missense	probably benign	0.03
R9379:Kcnq1	UTSW	7	142,745,169 (GRCm39)	missense	probably damaging	1.00
R9776:Kcnq1	UTSW	7	142,737,368 (GRCm39)	missense	probably damaging	0.99
Z1177:Kcnq1	UTSW	7	142,662,201 (GRCm39)	unclassified	probably benign

Predicted Primers

PCR Primer
(F):5'- AGCCTTGATGTCAGGGAAGG -3'
(R):5'- TGAAGTCAACATGGATCAGGC -3'

Sequencing Primer
(F):5'- TACTGCTGAGTGGCTGGACC -3'
(R):5'- GCATGGAGTAGACATCCTCTGAC -3'

Posted On

2016-06-21