Mutagenetix > Incidental Mutation

Incidental Mutation 'R6111:Kcnq1'

484843

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

044260-MU

Accession Numbers

Essential gene?

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

Stock #

R6111 (G1)

Quality Score

192.009

Status

Validated

Chromosome

Chromosomal Location

142660614-142980787 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 142661474 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 63 (T63A)

Ref Sequence

ENSEMBL: ENSMUSP00000139548 (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: T127A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000009689
Gene: ENSMUSG00000009545
AA Change: T127A

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: T63A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000139548
Gene: ENSMUSG00000009545
AA Change: T63A

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

0.0898

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.0%
20x: 94.2%

Validation Efficiency

98% (57/58)

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: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2210408I21Rik	A	G	13: 77,476,021 (GRCm39)	E1110G	possibly damaging	Het
Abcd4	G	A	12: 84,661,888 (GRCm39)	T79I	probably damaging	Het
Acd	A	G	8: 106,424,919 (GRCm39)	M407T	probably benign	Het
Adcy2	T	A	13: 68,877,360 (GRCm39)	H460L	probably damaging	Het
Atad2	G	A	15: 57,971,487 (GRCm39)	H752Y	probably benign	Het
Bmal2	T	C	6: 146,722,097 (GRCm39)	F223L	probably benign	Het
Camsap2	A	G	1: 136,209,036 (GRCm39)	S819P	probably benign	Het
Col24a1	C	A	3: 145,019,815 (GRCm39)	T62K	probably damaging	Het
Cpne6	G	A	14: 55,752,091 (GRCm39)	V283M	probably benign	Het
D630003M21Rik	A	G	2: 158,055,368 (GRCm39)	S590P	probably damaging	Het
Daam1	T	A	12: 71,989,038 (GRCm39)	M146K	unknown	Het
Dclk2	A	G	3: 86,712,968 (GRCm39)	Y495H	probably benign	Het
Ddx4	A	T	13: 112,757,766 (GRCm39)	C330*	probably null	Het
Dlec1	T	C	9: 118,931,692 (GRCm39)	L37P	possibly damaging	Het
Dock2	G	A	11: 34,599,614 (GRCm39)	P322S	probably damaging	Het
Espl1	A	G	15: 102,208,323 (GRCm39)	E443G	probably damaging	Het
Eya4	T	A	10: 23,015,953 (GRCm39)	D338V	possibly damaging	Het
Fcmr	A	G	1: 130,805,566 (GRCm39)	I267V	probably damaging	Het
Gfra3	T	A	18: 34,823,927 (GRCm39)	H349L	probably damaging	Het
Gm25747	A	G	12: 113,392,703 (GRCm39)		probably benign	Het
Gria4	G	A	9: 4,502,430 (GRCm39)	R368C	probably damaging	Het
H2-Q5	A	T	17: 35,613,885 (GRCm39)	I145F	possibly damaging	Het
Hace1	A	T	10: 45,465,606 (GRCm39)	K54I	possibly damaging	Het
Ift122	T	A	6: 115,852,247 (GRCm39)	I79N	probably damaging	Het
Ino80b	A	G	6: 83,101,347 (GRCm39)	V121A	probably damaging	Het
Map4k4	C	A	1: 40,050,822 (GRCm39)	Q762K	probably benign	Het
Mios	G	A	6: 8,214,836 (GRCm39)	A11T	probably benign	Het
Nfatc1	A	G	18: 80,741,125 (GRCm39)	S278P	probably damaging	Het
Notch2	T	C	3: 98,053,609 (GRCm39)	S2091P	probably benign	Het
Nudt19	T	A	7: 35,254,952 (GRCm39)	D93V	probably benign	Het
Or8b12b	T	C	9: 37,684,228 (GRCm39)	I91T	probably damaging	Het
Osbpl2	A	G	2: 179,791,994 (GRCm39)	T233A	probably benign	Het
P3h1	C	T	4: 119,098,329 (GRCm39)	R369*	probably null	Het
Pcdhb3	A	T	18: 37,435,242 (GRCm39)	I403L	probably benign	Het
Pigo	T	C	4: 43,019,724 (GRCm39)	D935G	probably benign	Het
Plpp1	A	G	13: 113,003,451 (GRCm39)	H224R	probably damaging	Het
Rai1	T	A	11: 60,078,732 (GRCm39)	M932K	probably damaging	Het
Rexo2	A	T	9: 48,384,412 (GRCm39)	F122L	probably damaging	Het
Rsf1	GCG	GCGACGGCGACG	7: 97,229,114 (GRCm39)		probably benign	Het
Sdc3	A	G	4: 130,546,153 (GRCm39)	T77A	unknown	Het
Skint5	T	C	4: 113,562,845 (GRCm39)	T786A	unknown	Het
Smok3c	C	A	5: 138,063,365 (GRCm39)	P284Q	probably damaging	Het
Spg11	A	G	2: 121,923,963 (GRCm39)	V786A	probably damaging	Het
Tmem273	T	C	14: 32,528,755 (GRCm39)	I40T	possibly damaging	Het
Tnfrsf10b	T	A	14: 70,020,007 (GRCm39)	C380S	possibly damaging	Het
Tsen54	T	C	11: 115,710,956 (GRCm39)	V176A	possibly damaging	Het
Ttll4	A	T	1: 74,736,698 (GRCm39)	K1141M	possibly damaging	Het
Ttpa	A	T	4: 20,014,772 (GRCm39)	I116F	probably damaging	Het
Tubgcp6	T	C	15: 88,985,123 (GRCm39)	D1655G	possibly damaging	Het
Usp38	A	G	8: 81,740,551 (GRCm39)	V172A	probably damaging	Het
Vmn2r73	A	G	7: 85,520,997 (GRCm39)	S324P	probably benign	Het
Wdr72	T	C	9: 74,117,607 (GRCm39)	M773T	probably benign	Het
Xirp2	T	A	2: 67,342,161 (GRCm39)	H1467Q	possibly damaging	Het
Zdhhc8	G	T	16: 18,042,762 (GRCm39)	S479R	probably damaging	Het
Zfp423	A	G	8: 88,509,315 (GRCm39)	V322A	probably damaging	Het
Zfp87	T	G	13: 74,520,504 (GRCm39)	E191D	probably benign	Het
Zfp933	T	C	4: 147,913,217 (GRCm39)	T14A	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
R6025:Kcnq1	UTSW	7	142,660,170 (GRCm39)	unclassified	probably benign
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'- AGTGTCCCTTCTCACTGGAG -3'
(R):5'- TTGGTGTACTGCAAGTGTCCC -3'

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

Posted On

2017-08-16