Mutagenetix > Incidental Mutation

Incidental Mutation 'R4686:Kcnq1'

353676

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

041937-MU

Accession Numbers

Essential gene?

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

Stock #

R4686 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

142660614-142980787 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 142661466 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Phenylalanine at position 124 (Y124F)

Ref Sequence

ENSEMBL: ENSMUSP00000009689 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000009689] [ENSMUST00000185383] [ENSMUST00000186284] [ENSMUST00000186288] [ENSMUST00000186488] [ENSMUST00000186798] [ENSMUST00000187213]

AlphaFold

P97414

Predicted Effect

probably benign
Transcript: ENSMUST00000009689
AA Change: Y124F

PolyPhen 2 Score 0.445 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000009689
Gene: ENSMUSG00000009545
AA Change: Y124F

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: Y60F

PolyPhen 2 Score 0.029 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000139548
Gene: ENSMUSG00000009545
AA Change: Y60F

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

Predicted Effect

probably benign
Transcript: ENSMUST00000186284

Predicted Effect

probably benign
Transcript: ENSMUST00000186288

Predicted Effect

probably benign
Transcript: ENSMUST00000186488

SMART Domains

Protein: ENSMUSP00000140673
Gene: ENSMUSG00000009545

Domain	Start	End	E-Value	Type
transmembrane domain	37	59	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000186798

Predicted Effect

probably benign
Transcript: ENSMUST00000187213

Meta Mutation Damage Score

0.1541

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.1%
20x: 95.0%

Validation Efficiency

97% (68/70)

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: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamtsl2	A	G	2: 26,983,837 (GRCm39)	N411S	probably damaging	Het
Adnp	A	C	2: 168,024,309 (GRCm39)	C995W	possibly damaging	Het
Akap6	CA	C	12: 52,934,406 (GRCm39)		probably null	Het
Ano2	T	G	6: 125,767,254 (GRCm39)	I228M	probably benign	Het
Arhgap21	T	C	2: 20,868,033 (GRCm39)	D830G	probably damaging	Het
Atp13a2	G	A	4: 140,730,587 (GRCm39)		probably null	Het
Ccdc175	C	T	12: 72,159,052 (GRCm39)	S629N	probably damaging	Het
Cdhr4	T	C	9: 107,872,883 (GRCm39)	W311R	probably benign	Het
Chaf1b	A	G	16: 93,681,472 (GRCm39)	H30R	probably benign	Het
Clnk	G	A	5: 38,899,180 (GRCm39)		probably benign	Het
Copb1	A	G	7: 113,820,971 (GRCm39)	S773P	possibly damaging	Het
Cse1l	A	G	2: 166,774,080 (GRCm39)	D198G	probably damaging	Het
Ears2	A	G	7: 121,647,427 (GRCm39)	S286P	probably damaging	Het
Efcab7	A	G	4: 99,735,318 (GRCm39)	E114G	probably benign	Het
Fanca	G	C	8: 123,995,673 (GRCm39)		probably benign	Het
Flt3	A	G	5: 147,313,858 (GRCm39)	L64P	probably damaging	Het
Gabrb1	A	G	5: 71,857,365 (GRCm39)	T3A	possibly damaging	Het
Gm10384	T	C	15: 36,871,897 (GRCm39)		noncoding transcript	Het
Gm5117	G	A	8: 32,229,284 (GRCm39)		noncoding transcript	Het
Gpr141	T	A	13: 19,935,951 (GRCm39)	I275F	probably benign	Het
Greb1l	A	T	18: 10,522,112 (GRCm39)	E736V	probably damaging	Het
Hc	T	C	2: 34,929,260 (GRCm39)	E279G	possibly damaging	Het
Hivep1	C	T	13: 42,309,326 (GRCm39)	T522M	probably benign	Het
Hspa12a	T	A	19: 58,788,181 (GRCm39)	E547V	possibly damaging	Het
Il10ra	A	G	9: 45,180,357 (GRCm39)	L5S	probably damaging	Het
Iqcf6	G	T	9: 106,504,543 (GRCm39)	W69L	probably damaging	Het
Iqgap2	T	C	13: 95,858,117 (GRCm39)	N379S	probably damaging	Het
Itpr2	A	G	6: 146,131,273 (GRCm39)	I1977T	probably damaging	Het
Lamp5	C	T	2: 135,900,923 (GRCm39)	T41M	probably damaging	Het
Lgr5	A	G	10: 115,294,648 (GRCm39)		probably benign	Het
Mlec	A	G	5: 115,288,355 (GRCm39)	I167T	possibly damaging	Het
Myf6	A	G	10: 107,329,689 (GRCm39)	V198A	probably benign	Het
Nceh1	C	T	3: 27,295,818 (GRCm39)	R360C	probably damaging	Het
Nos2	C	A	11: 78,819,456 (GRCm39)	T56N	possibly damaging	Het
Npw	T	G	17: 24,876,386 (GRCm39)	H175P	probably benign	Het
Nrxn3	A	T	12: 89,477,421 (GRCm39)	I899F	probably damaging	Het
Ociad1	A	G	5: 73,464,078 (GRCm39)	T179A	possibly damaging	Het
Or1e19	A	G	11: 73,316,264 (GRCm39)	S182P	probably benign	Het
Or52b4	A	G	7: 102,184,356 (GRCm39)	Y134C	probably damaging	Het
Or8b48	T	A	9: 38,493,327 (GRCm39)	F251L	probably damaging	Het
Pacsin2	T	C	15: 83,265,976 (GRCm39)	N74D	probably benign	Het
Pcdh7	A	G	5: 58,286,511 (GRCm39)	I1196V	probably benign	Het
Pdxk	A	T	10: 78,282,837 (GRCm39)		probably null	Het
Phb2	G	A	6: 124,690,105 (GRCm39)		probably null	Het
Pus7l	T	A	15: 94,438,092 (GRCm39)	N251I	probably damaging	Het
Rgs7bp	T	A	13: 105,100,597 (GRCm39)	N226I	probably damaging	Het
Runx2	T	A	17: 44,950,572 (GRCm39)	D327V	probably damaging	Het
Srp68	A	T	11: 116,156,227 (GRCm39)	C172S	probably damaging	Het
Stk25	A	G	1: 93,551,142 (GRCm39)		probably null	Het
Tbrg4	C	T	11: 6,568,468 (GRCm39)	R437Q	probably benign	Het
Tedc2	C	T	17: 24,436,862 (GRCm39)		probably null	Het
Teddm1a	T	A	1: 153,768,196 (GRCm39)	I220N	probably damaging	Het
Thoc1	G	T	18: 9,970,312 (GRCm39)	E221*	probably null	Het
Tmem132d	G	T	5: 127,869,674 (GRCm39)	D553E	possibly damaging	Het
Topors	A	T	4: 40,261,694 (GRCm39)	V530D	probably benign	Het
Tpx2	T	C	2: 152,731,103 (GRCm39)	V515A	possibly damaging	Het
Trim24	A	G	6: 37,885,240 (GRCm39)	H191R	probably damaging	Het
Ttn	G	A	2: 76,567,914 (GRCm39)	R27660W	probably damaging	Het
Vmn1r203	T	C	13: 22,708,528 (GRCm39)	L103P	probably damaging	Het
Vmn1r233	C	T	17: 21,214,368 (GRCm39)	S194N	probably benign	Het
Vmn2r108	T	C	17: 20,691,636 (GRCm39)	K296E	probably damaging	Het
Vmn2r88	G	A	14: 51,650,796 (GRCm39)	E170K	probably benign	Het
Zfp740	C	T	15: 102,117,184 (GRCm39)		probably benign	Het
Zmym5	A	G	14: 57,049,618 (GRCm39)		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
R4795:Kcnq1	UTSW	7	142,736,494 (GRCm39)	missense	probably benign	0.01
R5133:Kcnq1	UTSW	7	142,748,083 (GRCm39)	critical splice donor site	probably null
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'- GAAGTGTCCCTTCTCACTGG -3'
(R):5'- TGGTGTACTGCAAGTGTCCC -3'

Sequencing Primer
(F):5'- TGAGGGCAGCACGGTCTATG -3'
(R):5'- GCAAGTGTCCCCCTCCAC -3'

Posted On

2015-10-21