Mutagenetix > Incidental Mutations

Incidental Mutation 'R7308:Kcnt1'

567366

Institutional Source

Beutler Lab

Gene Symbol

Kcnt1

Ensembl Gene

ENSMUSG00000058740

Gene Name

potassium channel, subfamily T, member 1

Synonyms

C030030G16Rik, Slack, slo2

MMRRC Submission

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.183) question?

Stock #

R7308 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

25863734-25918273 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 25900463 bp

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Serine at position 479 (F479S)

Ref Sequence

ENSEMBL: ENSMUSP00000039058 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000037580] [ENSMUST00000114172] [ENSMUST00000114176] [ENSMUST00000128502] [ENSMUST00000153001] [ENSMUST00000171268] [ENSMUST00000197917] [ENSMUST00000198204] [ENSMUST00000200434]

Predicted Effect

possibly damaging
Transcript: ENSMUST00000037580
AA Change: F479S

PolyPhen 2 Score 0.743 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000039058
Gene: ENSMUSG00000058740
AA Change: F479S

Domain	Start	End	E-Value	Type
low complexity region	13	32	N/A	INTRINSIC
transmembrane domain	98	117	N/A	INTRINSIC
transmembrane domain	157	179	N/A	INTRINSIC
transmembrane domain	188	210	N/A	INTRINSIC
Pfam:Ion_trans_2	252	335	1.3e-12	PFAM
transmembrane domain	355	377	N/A	INTRINSIC
Pfam:BK_channel_a	477	579	5.8e-32	PFAM
PDB:3U6N\|H	794	983	6e-6	PDB
low complexity region	1059	1076	N/A	INTRINSIC
low complexity region	1212	1229	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000114172
AA Change: F465S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000109809
Gene: ENSMUSG00000058740
AA Change: F465S

Domain	Start	End	E-Value	Type
low complexity region	13	32	N/A	INTRINSIC
transmembrane domain	98	117	N/A	INTRINSIC
transmembrane domain	157	179	N/A	INTRINSIC
transmembrane domain	188	210	N/A	INTRINSIC
Pfam:Ion_trans_2	255	335	5.2e-13	PFAM
transmembrane domain	355	377	N/A	INTRINSIC
Pfam:BK_channel_a	475	580	3.3e-38	PFAM
PDB:3U6N\|H	792	981	7e-6	PDB
low complexity region	1057	1074	N/A	INTRINSIC
low complexity region	1210	1227	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000114176
AA Change: F479S

PolyPhen 2 Score 0.747 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000109813
Gene: ENSMUSG00000058740
AA Change: F479S

Domain	Start	End	E-Value	Type
low complexity region	13	32	N/A	INTRINSIC
transmembrane domain	98	117	N/A	INTRINSIC
transmembrane domain	157	179	N/A	INTRINSIC
transmembrane domain	188	210	N/A	INTRINSIC
Pfam:Ion_trans_2	255	335	5.1e-13	PFAM
transmembrane domain	355	377	N/A	INTRINSIC
Pfam:BK_channel_a	475	580	3.2e-38	PFAM
PDB:3U6N\|H	794	983	6e-6	PDB
low complexity region	1059	1076	N/A	INTRINSIC
low complexity region	1191	1208	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000128502

Predicted Effect

probably benign
Transcript: ENSMUST00000153001

SMART Domains

Protein: ENSMUSP00000142532
Gene: ENSMUSG00000058740

Domain	Start	End	E-Value	Type
PDB:4HPF\|B	79	285	6e-9	PDB

Predicted Effect

possibly damaging
Transcript: ENSMUST00000171268
AA Change: F459S

PolyPhen 2 Score 0.872 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000132212
Gene: ENSMUSG00000058740
AA Change: F459S

Domain	Start	End	E-Value	Type
transmembrane domain	78	97	N/A	INTRINSIC
transmembrane domain	137	159	N/A	INTRINSIC
transmembrane domain	168	190	N/A	INTRINSIC
Pfam:Ion_trans_2	235	315	5.1e-13	PFAM
transmembrane domain	335	357	N/A	INTRINSIC
Pfam:BK_channel_a	455	560	3.2e-38	PFAM
PDB:3U6N\|H	774	963	7e-6	PDB
low complexity region	1039	1056	N/A	INTRINSIC
low complexity region	1192	1209	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000197917
AA Change: F479S

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000143106
Gene: ENSMUSG00000058740
AA Change: F479S

Domain	Start	End	E-Value	Type
low complexity region	13	32	N/A	INTRINSIC
transmembrane domain	98	117	N/A	INTRINSIC
transmembrane domain	157	179	N/A	INTRINSIC
transmembrane domain	188	210	N/A	INTRINSIC
Pfam:Ion_trans_2	255	335	5.2e-13	PFAM
transmembrane domain	355	377	N/A	INTRINSIC
Pfam:BK_channel_a	475	580	3.3e-38	PFAM
PDB:3U6N\|H	792	981	7e-6	PDB
low complexity region	1057	1074	N/A	INTRINSIC
low complexity region	1210	1227	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000198204
AA Change: F445S

PolyPhen 2 Score 0.933 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000142870
Gene: ENSMUSG00000058740
AA Change: F445S

Domain	Start	End	E-Value	Type
transmembrane domain	64	83	N/A	INTRINSIC
transmembrane domain	123	145	N/A	INTRINSIC
transmembrane domain	154	176	N/A	INTRINSIC
Pfam:Ion_trans_2	221	301	5e-11	PFAM
transmembrane domain	321	343	N/A	INTRINSIC
Pfam:BK_channel_a	441	546	1.2e-35	PFAM
PDB:3U6N\|H	760	949	6e-6	PDB
low complexity region	1025	1042	N/A	INTRINSIC
low complexity region	1157	1174	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000200434
AA Change: F445S

PolyPhen 2 Score 0.918 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000143482
Gene: ENSMUSG00000058740
AA Change: F445S

Domain	Start	End	E-Value	Type
transmembrane domain	64	83	N/A	INTRINSIC
transmembrane domain	123	145	N/A	INTRINSIC
transmembrane domain	154	176	N/A	INTRINSIC
Pfam:Ion_trans_2	221	301	5.1e-11	PFAM
transmembrane domain	321	343	N/A	INTRINSIC
Pfam:BK_channel_a	441	546	1.3e-35	PFAM
PDB:3U6N\|H	758	947	6e-6	PDB
low complexity region	1023	1040	N/A	INTRINSIC
low complexity region	1176	1193	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.8%

Validation Efficiency

MGI Phenotype

FUNCTION: This gene encodes a member of the Slo potassium channel family that has shown to be activated by both sodium and chloride ions. This channel represents the largest potassium channel subunit yet identified. This channel may be important in development and pain signaling. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2014]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit impaired action potential firing in sensory neurons and increased mechanical hypersensitivity in neuropathic pain models. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca16	T	C	7: 120,423,770	I43T	probably benign	Het
Ankar	G	A	1: 72,651,794	Q1175*	probably null	Het
Aqr	G	A	2: 114,104,062	A1366V	possibly damaging	Het
Arhgap45	G	A	10: 80,026,558		probably null	Het
Atf7ip	T	A	6: 136,565,089	M607K	probably benign	Het
BC028528	CTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTT	CTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTT	3: 95,888,136		probably benign	Het
BC028528	TCACTGGTTCTGTGGTCACTGGTTCTGTGG	TCACTGGTTCTGTGGCCACTGGTTCTGTGGTCACTGGTTCTGTGG	3: 95,888,152		probably benign	Het
BC028528	ACTGGTTCTGTGGTC	ACTGGTTCTGTGGTCCCTGGTTCTGTGGTC	3: 95,888,169		probably benign	Het
Bcar3	T	A	3: 122,508,493	V279E	probably benign	Het
Cd96	C	T	16: 46,071,734		probably null	Het
Cdca2	G	A	14: 67,694,991	P488S	probably benign	Het
Col4a2	T	G	8: 11,406,856		probably null	Het
Cyp4a12a	A	G	4: 115,327,758	R379G	possibly damaging	Het
Defb34	A	G	8: 19,126,379	S29G	probably benign	Het
Dnah11	A	G	12: 117,995,275	S2958P	probably damaging	Het
Dync1h1	A	G	12: 110,665,162	D4431G	possibly damaging	Het
Egfem1	A	T	3: 29,151,866	H84L	probably benign	Het
Enah	A	T	1: 181,906,385		probably null	Het
Fam178b	G	T	1: 36,659,407	Q78K	probably benign	Het
Glb1	A	G	9: 114,473,863	N589S	probably damaging	Het
Gm1527	C	T	3: 28,902,280	H132Y	probably benign	Het
Gm4788	A	G	1: 139,754,303	V185A	possibly damaging	Het
Gm4858	A	G	3: 93,074,565	T223A	probably benign	Het
Gm5799	A	G	14: 43,543,707	R22G	possibly damaging	Het
Grip2	T	C	6: 91,778,688	D617G	possibly damaging	Het
Hax1	A	T	3: 89,998,566	D5E	possibly damaging	Het
Hic1	A	G	11: 75,167,151	L304P	probably damaging	Het
Hmox1	T	A	8: 75,097,019	I105N	probably damaging	Het
Hormad1	T	C	3: 95,562,555	S38P	probably damaging	Het
Hspa4	A	G	11: 53,267,103	S558P	possibly damaging	Het
Kcnf1	T	A	12: 17,174,729	H497L	probably benign	Het
Kcnma1	C	T	14: 23,330,935	D1022N	probably damaging	Het
Krba1	T	C	6: 48,406,339	V203A	probably benign	Het
Lct	G	T	1: 128,319,087	P233Q	probably benign	Het
Ly75	T	C	2: 60,334,515	D773G	probably benign	Het
Malt1	T	C	18: 65,449,609		probably null	Het
Man1a2	A	T	3: 100,620,105	L333Q	probably damaging	Het
Mtus1	T	C	8: 41,082,928	T584A	probably benign	Het
Myof	A	T	19: 37,910,911	S1800R	probably damaging	Het
Nbea	A	C	3: 56,091,031	C118W	probably damaging	Het
Nsd3	A	T	8: 25,640,724	D35V	probably damaging	Het
Olfr1386	G	A	11: 49,469,927		probably benign	Het
Olfr739	G	A	14: 50,425,265	V249I	possibly damaging	Het
Pcnx3	C	T	19: 5,686,147	R217H	possibly damaging	Het
Pcsk4	G	A	10: 80,323,173	P462L	probably benign	Het
Pdia5	T	G	16: 35,456,509	K96N	probably damaging	Het
Pik3c2a	T	C	7: 116,373,839	Y707C	probably damaging	Het
Ppig	A	T	2: 69,749,462	N447Y	unknown	Het
Ppp1r9b	T	C	11: 95,004,571	L695P	possibly damaging	Het
Proser1	C	T	3: 53,478,704	A669V	probably benign	Het
Rdx	A	T	9: 52,068,870	K254N	probably damaging	Het
Slc35f2	T	C	9: 53,798,010	S95P	probably benign	Het
Slc4a3	T	A	1: 75,557,362	S1118T	probably benign	Het
Slf1	G	A	13: 77,051,168	P698L	probably benign	Het
Sptbn2	A	G	19: 4,751,574	E2338G	probably benign	Het
Taok3	T	A	5: 117,200,151	Y91*	probably null	Het
Tbc1d31	C	T	15: 57,952,816	L649F	probably damaging	Het
Tmem132b	A	T	5: 125,787,646	I939F	possibly damaging	Het
Trav17	T	A	14: 53,806,979	Y69N	probably benign	Het
Trmt13	T	C	3: 116,594,739	D16G	probably benign	Het
Upf2	T	A	2: 5,973,518	Y398N	unknown	Het
Vmn1r238	T	C	18: 3,122,875	T180A	probably benign	Het
Wdyhv1	T	C	15: 58,152,610	V85A	possibly damaging	Het
Zfp738	A	T	13: 67,669,553	I773N	probably benign	Het
Zscan4e	A	T	7: 11,307,153	M264K	probably benign	Het

Other mutations in Kcnt1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00718:Kcnt1	APN	2	25892407	missense	probably damaging	0.98
IGL01358:Kcnt1	APN	2	25916005	missense	probably damaging	1.00
IGL01593:Kcnt1	APN	2	25898754	missense	probably damaging	1.00
IGL01779:Kcnt1	APN	2	25900967	missense	probably damaging	1.00
IGL01800:Kcnt1	APN	2	25888125	missense	probably damaging	1.00
IGL01834:Kcnt1	APN	2	25912719	critical splice donor site	probably null
IGL02001:Kcnt1	APN	2	25908152	missense	probably damaging	1.00
IGL02061:Kcnt1	APN	2	25900482	critical splice donor site	probably null
IGL02121:Kcnt1	APN	2	25901865	missense	probably damaging	1.00
IGL02646:Kcnt1	APN	2	25900880	splice site	probably benign
IGL02683:Kcnt1	APN	2	25900925	missense	possibly damaging	0.85
IGL03028:Kcnt1	APN	2	25909203	critical splice acceptor site	probably null
IGL03139:Kcnt1	APN	2	25894468	splice site	probably benign
R0070:Kcnt1	UTSW	2	25892362	missense	probably benign	0.00
R0070:Kcnt1	UTSW	2	25892362	missense	probably benign	0.00
R0149:Kcnt1	UTSW	2	25898264	splice site	probably benign
R0294:Kcnt1	UTSW	2	25888110	missense	probably damaging	0.99
R0367:Kcnt1	UTSW	2	25907628	missense	probably damaging	1.00
R0481:Kcnt1	UTSW	2	25892496	missense	probably damaging	0.98
R0666:Kcnt1	UTSW	2	25891243	splice site	probably benign
R1364:Kcnt1	UTSW	2	25908094	missense	probably damaging	0.99
R1553:Kcnt1	UTSW	2	25900385	missense	probably damaging	1.00
R1916:Kcnt1	UTSW	2	25900469	missense	probably damaging	1.00
R1999:Kcnt1	UTSW	2	25892360	missense	probably benign
R2079:Kcnt1	UTSW	2	25900248	missense	possibly damaging	0.48
R2166:Kcnt1	UTSW	2	25891183	splice site	probably benign
R2295:Kcnt1	UTSW	2	25900921	missense	probably damaging	1.00
R3688:Kcnt1	UTSW	2	25894359	missense	probably damaging	1.00
R3820:Kcnt1	UTSW	2	25900892	missense	probably damaging	1.00
R3826:Kcnt1	UTSW	2	25915868	critical splice donor site	probably null
R3980:Kcnt1	UTSW	2	25893214	missense	possibly damaging	0.91
R4031:Kcnt1	UTSW	2	25916048	missense	possibly damaging	0.77
R4093:Kcnt1	UTSW	2	25877915	missense	probably damaging	0.99
R4361:Kcnt1	UTSW	2	25878032	missense	probably benign	0.03
R4367:Kcnt1	UTSW	2	25907626	missense	probably damaging	1.00
R4850:Kcnt1	UTSW	2	25908100	missense	probably damaging	1.00
R5005:Kcnt1	UTSW	2	25901346	missense	probably damaging	1.00
R5119:Kcnt1	UTSW	2	25909322	intron	probably benign
R5223:Kcnt1	UTSW	2	25903422	missense	probably benign
R5243:Kcnt1	UTSW	2	25908074	missense	probably damaging	1.00
R5323:Kcnt1	UTSW	2	25909277	missense	possibly damaging	0.59
R5665:Kcnt1	UTSW	2	25901909	nonsense	probably null
R5888:Kcnt1	UTSW	2	25908110	missense	probably damaging	1.00
R5906:Kcnt1	UTSW	2	25894524	intron	probably benign
R5906:Kcnt1	UTSW	2	25898401	missense	probably damaging	1.00
R5927:Kcnt1	UTSW	2	25909376	intron	probably benign
R6160:Kcnt1	UTSW	2	25892383	missense	probably damaging	0.96
R6161:Kcnt1	UTSW	2	25903385	missense	probably benign	0.00
R6179:Kcnt1	UTSW	2	25893180	missense	probably damaging	1.00
R6222:Kcnt1	UTSW	2	25892510	missense	probably damaging	1.00
R6268:Kcnt1	UTSW	2	25903597	splice site	probably null
R6336:Kcnt1	UTSW	2	25888755	splice site	probably null
R6395:Kcnt1	UTSW	2	25909239	missense	possibly damaging	0.81
R6564:Kcnt1	UTSW	2	25911051	missense	probably benign	0.09
R6944:Kcnt1	UTSW	2	25877828	intron	probably benign
R7236:Kcnt1	UTSW	2	25909939	splice site	probably null
R7346:Kcnt1	UTSW	2	25863843	unclassified	probably benign
R7419:Kcnt1	UTSW	2	25915999	missense	probably benign	0.11
R7461:Kcnt1	UTSW	2	25901346	missense	probably benign	0.01
R7470:Kcnt1	UTSW	2	25909833	missense	probably damaging	0.96
R7566:Kcnt1	UTSW	2	25916036	missense	probably benign	0.31
R7613:Kcnt1	UTSW	2	25901346	missense	probably benign	0.01
R7778:Kcnt1	UTSW	2	25901889	missense	probably benign	0.10
R8031:Kcnt1	UTSW	2	25908042	splice site	probably benign
R8088:Kcnt1	UTSW	2	25894314	missense	possibly damaging	0.63
R8113:Kcnt1	UTSW	2	25901211	missense	possibly damaging	0.67
R8378:Kcnt1	UTSW	2	25907271	missense	probably benign	0.03
Z1176:Kcnt1	UTSW	2	25906796	missense	probably benign	0.07
Z1177:Kcnt1	UTSW	2	25901228	nonsense	probably null
Z1177:Kcnt1	UTSW	2	25909265	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- AGAGGCCTGCTTTATCCTCAG -3'
(R):5'- CAGATCATTTGCCAAGGCTG -3'

Sequencing Primer
(F):5'- GCTTTATCCTCAGCAGCAGGAATG -3'
(R):5'- GCTCCTTACTTTCTGATGCAGAGAG -3'

Posted On

2019-06-26