Mutagenetix > Incidental Mutation

Incidental Mutation 'R6025:Kcnq1'

479976

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

044197-MU

Accession Numbers

Essential gene?

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

Stock #

R6025 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

142660614-142980787 bp(+) (GRCm39)

Type of Mutation

unclassified

DNA Base Change (assembly)

T to A at 142660170 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000139700 (fasta)

Gene Model

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

AlphaFold

P97414

Predicted Effect

probably benign
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 benign
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

Predicted Effect

probably benign
Transcript: ENSMUST00000186284

Predicted Effect

probably benign
Transcript: ENSMUST00000186288

Predicted Effect

unknown
Transcript: ENSMUST00000186488
AA Change: W24R

SMART Domains

Protein: ENSMUSP00000140673
Gene: ENSMUSG00000009545
AA Change: W24R

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

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.4%
20x: 92.0%

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: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310033P09Rik	GC	G	11: 59,101,139 (GRCm39)		probably null	Het
Acvr1b	C	A	15: 101,092,856 (GRCm39)	D166E	probably benign	Het
Adgra2	T	C	8: 27,604,491 (GRCm39)	I522T	probably damaging	Het
Adgre4	C	T	17: 56,099,013 (GRCm39)	S173L	probably benign	Het
Akap9	A	T	5: 4,082,801 (GRCm39)	Q1975L	probably damaging	Het
Ap3d1	T	A	10: 80,546,298 (GRCm39)	M965L	probably benign	Het
Brca2	CATA	CA	5: 150,465,040 (GRCm39)		probably null	Het
Chd6	T	C	2: 160,807,502 (GRCm39)	N1904S	probably benign	Het
Clstn3	A	T	6: 124,408,623 (GRCm39)	S896R	possibly damaging	Het
Col6a3	T	A	1: 90,755,824 (GRCm39)	D155V	probably damaging	Het
Dct	T	C	14: 118,273,876 (GRCm39)	T344A	possibly damaging	Het
Dctn1	T	A	6: 83,170,673 (GRCm39)		probably null	Het
Dgkz	T	C	2: 91,776,255 (GRCm39)	T3A	possibly damaging	Het
Duoxa2	T	C	2: 122,132,332 (GRCm39)	S249P	possibly damaging	Het
Ehbp1	A	T	11: 22,189,156 (GRCm39)	V82E	probably damaging	Het
Fcho1	A	T	8: 72,165,217 (GRCm39)		probably null	Het
Garin5b	T	A	7: 4,761,143 (GRCm39)	D523V	probably benign	Het
Ifi213	T	A	1: 173,422,800 (GRCm39)	N22Y	probably damaging	Het
Kif7	T	A	7: 79,354,388 (GRCm39)	Q799L	probably benign	Het
Lmnb1	T	A	18: 56,862,456 (GRCm39)	L206*	probably null	Het
Lonp2	G	T	8: 87,440,001 (GRCm39)	G247V	probably damaging	Het
Ly75	T	C	2: 60,206,306 (GRCm39)	Y121C	probably damaging	Het
Mboat1	C	A	13: 30,408,509 (GRCm39)	T224K	probably benign	Het
Mcm9	T	C	10: 53,492,073 (GRCm39)	E416G	possibly damaging	Het
Mtnr1b	A	T	9: 15,774,093 (GRCm39)	I322N	probably damaging	Het
Nanog	G	A	6: 122,690,350 (GRCm39)	G227R	possibly damaging	Het
Nbn	T	C	4: 15,981,347 (GRCm39)	S480P	probably damaging	Het
Nek10	C	A	14: 14,865,633 (GRCm38)	L638M	probably benign	Het
Nelfcd	T	C	2: 174,268,611 (GRCm39)	V538A	probably damaging	Het
Or1e33	A	T	11: 73,738,745 (GRCm39)	S69T	probably benign	Het
Or2b4	T	G	17: 38,116,312 (GRCm39)	I92S	probably damaging	Het
Or52a5b	T	C	7: 103,417,416 (GRCm39)	I63V	probably benign	Het
Or5b97	T	A	19: 12,879,034 (GRCm39)	T37S	probably benign	Het
Phf24	G	A	4: 42,938,780 (GRCm39)		probably null	Het
Pigz	T	C	16: 31,764,528 (GRCm39)	S529P	probably damaging	Het
Pik3r5	A	G	11: 68,383,144 (GRCm39)	E321G	probably damaging	Het
Plcb3	G	A	19: 6,933,547 (GRCm39)	T926I	probably benign	Het
Pm20d2	G	A	4: 33,181,833 (GRCm39)	P257S	probably damaging	Het
Pon2	A	G	6: 5,289,057 (GRCm39)	V34A	probably benign	Het
Prkar2b	A	G	12: 32,110,855 (GRCm39)	F76S	possibly damaging	Het
Prpf31	G	A	7: 3,642,668 (GRCm39)	E414K	probably benign	Het
Rsf1	CG	CGACGGCGGTG	7: 97,229,115 (GRCm39)		probably benign	Het
Setbp1	A	T	18: 78,902,455 (GRCm39)	L404Q	probably damaging	Het
Slc26a11	C	T	11: 119,265,654 (GRCm39)	A389V	probably damaging	Het
Slc2a1	A	T	4: 118,993,539 (GRCm39)	T459S	possibly damaging	Het
Spi1	T	C	2: 90,944,685 (GRCm39)	L135P	probably benign	Het
Sspo	T	C	6: 48,463,720 (GRCm39)	L3844P	possibly damaging	Het
Stxbp5	T	A	10: 9,675,772 (GRCm39)	T616S	probably benign	Het
Syde2	A	G	3: 145,712,896 (GRCm39)		probably null	Het
Synm	G	T	7: 67,384,686 (GRCm39)	A550D	possibly damaging	Het
Tanc2	T	C	11: 105,787,373 (GRCm39)	V891A	possibly damaging	Het
Tanc2	G	A	11: 105,758,543 (GRCm39)	R768Q	probably damaging	Het
Tlx1	A	T	19: 45,144,413 (GRCm39)	Q45L	probably damaging	Het
Tmem104	C	A	11: 115,096,349 (GRCm39)	Y191*	probably null	Het
Tmem17	A	C	11: 22,468,659 (GRCm39)	*199C	probably null	Het
Tns3	A	T	11: 8,442,578 (GRCm39)	M595K	possibly damaging	Het
Tyk2	A	G	9: 21,027,256 (GRCm39)	V538A	probably benign	Het
Unc80	A	G	1: 66,734,727 (GRCm39)	D3250G	possibly damaging	Het
Usp4	A	G	9: 108,237,322 (GRCm39)	H130R	possibly damaging	Het
Zfhx2	T	C	14: 55,302,665 (GRCm39)	Q1773R	probably benign	Het
Zfp790	A	G	7: 29,528,970 (GRCm39)	K552E	possibly damaging	Het
Zswim5	G	A	4: 116,808,106 (GRCm39)	R230Q	probably damaging	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
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
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'- TTCTACATAGCACCAACTCCCAT -3'
(R):5'- AGAGTGACACAGAAGGAGCTTT -3'

Sequencing Primer
(F):5'- TCATTCACAACCAAGGAAGTTGAG -3'
(R):5'- TGACACAGAAGGAGCTTTATGTCCC -3'

Posted On

2017-06-26