Mutagenetix > Incidental Mutations

Incidental Mutation 'R7596:Kcnk1'

587725

Institutional Source

Beutler Lab

Gene Symbol

Kcnk1

Ensembl Gene

ENSMUSG00000033998

Gene Name

potassium channel, subfamily K, member 1

Synonyms

TWIK-1

MMRRC Submission

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7596 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

125995170-126030685 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 125995611 bp

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 51 (L51P)

Ref Sequence

ENSEMBL: ENSMUSP00000046103 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000046765] [ENSMUST00000212831]

Predicted Effect

probably damaging
Transcript: ENSMUST00000046765
AA Change: L51P

PolyPhen 2 Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000046103
Gene: ENSMUSG00000033998
AA Change: L51P

Domain	Start	End	E-Value	Type
low complexity region	23	41	N/A	INTRINSIC
low complexity region	49	68	N/A	INTRINSIC
Pfam:Ion_trans_2	82	158	6.6e-19	PFAM
Pfam:Ion_trans_2	190	271	1.8e-17	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000212831
AA Change: L51P

PolyPhen 2 Score 0.857 (Sensitivity: 0.83; Specificity: 0.93)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

95% (53/56)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes one of the members of the superfamily of potassium channel proteins containing two pore-forming P domains. The product of this gene has not been shown to be a functional channel, however, it may require other non-pore-forming proteins for activity. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a null mutation reduced urinary flow rates and on a low phosphate diet display an attenuated ability to increase renal phosphate reabsorption. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310034C09Rik	G	A	16: 88,759,336	S146N	probably damaging	Het
Adam26b	A	C	8: 43,520,200	D588E	probably benign	Het
Ankrd13b	C	A	11: 77,472,314	R547L	probably benign	Het
Bckdk	G	T	7: 127,906,400	E232*	probably null	Het
C8a	T	C	4: 104,853,867	K244E	possibly damaging	Het
Cad	A	G	5: 31,069,048	I1145V	probably benign	Het
Cd28	C	A	1: 60,763,328	H135Q	possibly damaging	Het
Ceacam19	A	G	7: 19,881,887	I209T	possibly damaging	Het
Cecr2	A	G	6: 120,762,206	N1298S	probably benign	Het
Cpne5	C	T	17: 29,226,217	D38N	possibly damaging	Het
Dcn	A	T	10: 97,510,009	I228F	probably damaging	Het
Gm10696	T	A	3: 94,176,430	T25S	probably benign	Het
Gm5591	T	G	7: 38,520,184	I422L	probably benign	Het
Gnptab	T	G	10: 88,443,370	F1201V	probably damaging	Het
Hc	A	G	2: 35,000,847	V1319A	probably damaging	Het
Htr3b	T	C	9: 48,936,061	N385D	probably benign	Het
Ikbip	A	T	10: 91,083,029		probably benign	Het
Lcn2	A	G	2: 32,385,709	Y160H	probably damaging	Het
Lig1	T	C	7: 13,305,998	S712P	probably damaging	Het
Lrrc19	T	G	4: 94,643,355	M7L	probably benign	Het
Lrrc4b	C	T	7: 44,461,886	T394M	probably damaging	Het
Map7	A	G	10: 20,278,181	N681S	unknown	Het
Mdga2	A	T	12: 66,506,123	M912K	probably damaging	Het
Mlst8	C	T	17: 24,478,110		probably null	Het
Ms4a13	A	T	19: 11,169,965	V195D	unknown	Het
Muc4	C	G	16: 32,753,930	Q1269E	probably benign	Het
Nr4a2	G	C	2: 57,108,231	F574L	probably damaging	Het
Nup107	T	C	10: 117,777,160	N288D	probably damaging	Het
Olfr1469	C	T	19: 13,411,147	H193Y	probably benign	Het
Olfr211	T	A	6: 116,494,197	V196D	probably benign	Het
Olfr742	A	T	14: 50,515,545	T114S	probably benign	Het
Pcolce	A	G	5: 137,606,825		probably null	Het
Pik3cg	A	G	12: 32,204,741	F416L	probably damaging	Het
Podnl1	A	G	8: 84,126,395	I65V		Het
Prpf8	T	C	11: 75,491,504	F387S	probably benign	Het
Rev3l	A	G	10: 39,821,538	Y677C	probably damaging	Het
Rhpn1	A	G	15: 75,712,313	T430A	probably benign	Het
Rnf187	T	C	11: 58,938,415	R124G	possibly damaging	Het
Rpl9-ps6	C	T	19: 32,466,383	V57I	probably benign	Het
Samhd1	A	T	2: 157,101,834	F587I	probably damaging	Het
Slc30a6	A	G	17: 74,415,669	T244A	probably benign	Het
Slc35f4	T	A	14: 49,306,209	Y310F	probably damaging	Het
Smarcc2	A	G	10: 128,482,793	Y648C	probably damaging	Het
Smc5	A	C	19: 23,214,169	V889G	probably damaging	Het
Sp110	G	A	1: 85,579,092	R417C		Het
Tango2	A	G	16: 18,302,710	V229A	probably damaging	Het
Tnks1bp1	A	G	2: 85,062,713	T995A	probably benign	Het
Trio	A	T	15: 27,749,826	I2263N	probably damaging	Het
Ttc28	T	C	5: 111,280,124	F1829L	probably damaging	Het
Ttn	A	G	2: 76,808,579	S13920P	probably damaging	Het
Ube2b	T	C	11: 51,986,743	N133S	probably damaging	Het
Ubn1	T	A	16: 5,081,558	H1055Q	probably benign	Het
Ubtf	G	A	11: 102,306,707	T705M	unknown	Het
Vmn2r109	A	T	17: 20,540,680	M805K	probably damaging	Het
Vsig10	T	C	5: 117,334,783	V147A	possibly damaging	Het
Zbtb16	C	A	9: 48,832,404	V203L	possibly damaging	Het

Other mutations in Kcnk1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01345:Kcnk1	APN	8	126025407	missense	possibly damaging	0.94
IGL01936:Kcnk1	APN	8	126025087	missense	probably damaging	1.00
IGL02447:Kcnk1	APN	8	126025080	missense	probably damaging	1.00
IGL02674:Kcnk1	APN	8	126025014	missense	probably damaging	1.00
PIT4515001:Kcnk1	UTSW	8	126025342	missense	probably damaging	1.00
R0735:Kcnk1	UTSW	8	126025289	missense	probably damaging	1.00
R1350:Kcnk1	UTSW	8	126025228	missense	probably benign	0.08
R1581:Kcnk1	UTSW	8	125995539	missense	possibly damaging	0.50
R1789:Kcnk1	UTSW	8	126025384	missense	possibly damaging	0.83
R2035:Kcnk1	UTSW	8	126025369	missense	possibly damaging	0.56
R2125:Kcnk1	UTSW	8	125995656	missense	probably damaging	0.99
R2906:Kcnk1	UTSW	8	125995799	missense	probably benign	0.00
R2907:Kcnk1	UTSW	8	125995799	missense	probably benign	0.00
R4710:Kcnk1	UTSW	8	126029528	missense	probably damaging	1.00
R5698:Kcnk1	UTSW	8	126025405	missense	probably damaging	1.00
R6591:Kcnk1	UTSW	8	126025231	missense	probably benign	0.01
R6647:Kcnk1	UTSW	8	125995460	start codon destroyed	probably null	0.98
R6691:Kcnk1	UTSW	8	126025231	missense	probably benign	0.01
R6934:Kcnk1	UTSW	8	126025390	missense	probably damaging	1.00
R7059:Kcnk1	UTSW	8	126029727	nonsense	probably null
R7082:Kcnk1	UTSW	8	125995548	missense	probably damaging	1.00
R7441:Kcnk1	UTSW	8	125995568	missense	probably damaging	1.00
R8393:Kcnk1	UTSW	8	126025225	missense	probably benign	0.05
Z1177:Kcnk1	UTSW	8	126029653	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- CTTGTATTTGCACGAAACCAGG -3'
(R):5'- CAGTACCCATATCGTGCTCC -3'

Sequencing Primer
(F):5'- TGTATTTGCACGAAACCAGGAAAGG -3'
(R):5'- ATATCGTGCTCCGGGGTCAC -3'

Posted On

2019-10-24