Mutagenetix > Incidental Mutation

Incidental Mutation 'R5927:Kcnt1'

459922

Institutional Source

Beutler Lab

Gene Symbol

Kcnt1

Ensembl Gene

ENSMUSG00000058740

Gene Name

potassium channel, subfamily T, member 1

Synonyms

C030030G16Rik, Slack, slo2

MMRRC Submission

044122-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.222) question?

Stock #

R5927 (G1)

Quality Score

178

Status

Validated

Chromosome

Chromosomal Location

25863734-25918273 bp(+) (GRCm38)

Type of Mutation

intron

DNA Base Change (assembly)

T to A at 25909376 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000143482 (fasta)

Gene Model

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

AlphaFold

Q6ZPR4

Predicted Effect

probably benign
Transcript: ENSMUST00000037580

SMART Domains

Protein: ENSMUSP00000039058
Gene: ENSMUSG00000058740

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 benign
Transcript: ENSMUST00000114172

SMART Domains

Protein: ENSMUSP00000109809
Gene: ENSMUSG00000058740

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

probably benign
Transcript: ENSMUST00000114176

SMART Domains

Protein: ENSMUSP00000109813
Gene: ENSMUSG00000058740

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

noncoding transcript
Transcript: ENSMUST00000131529

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000138568

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000145544

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

probably benign
Transcript: ENSMUST00000171268

SMART Domains

Protein: ENSMUSP00000132212
Gene: ENSMUSG00000058740

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 benign
Transcript: ENSMUST00000197917

SMART Domains

Protein: ENSMUSP00000143106
Gene: ENSMUSG00000058740

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

probably benign
Transcript: ENSMUST00000198204

SMART Domains

Protein: ENSMUSP00000142870
Gene: ENSMUSG00000058740

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

noncoding transcript
Transcript: ENSMUST00000199269

Predicted Effect

probably benign
Transcript: ENSMUST00000200434

SMART Domains

Protein: ENSMUSP00000143482
Gene: ENSMUSG00000058740

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

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.0%
20x: 94.0%

Validation Efficiency

100% (73/73)

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
Acadm	T	A	3: 153,939,108	I60F	probably damaging	Het
Ankrd26	A	G	6: 118,507,636		probably null	Het
Arhgdib	A	T	6: 136,924,138	W198R	probably damaging	Het
Atad5	T	A	11: 80,127,285	I1354N	probably damaging	Het
Ccdc146	T	A	5: 21,308,621	K500*	probably null	Het
Cdk11b	G	A	4: 155,648,240		probably benign	Het
Cmip	A	T	8: 117,257,309	T70S	possibly damaging	Het
Col22a1	G	T	15: 72,006,966	A114E	probably damaging	Het
Cpeb1	T	C	7: 81,361,680	D171G	possibly damaging	Het
Crebzf	C	T	7: 90,444,323		probably benign	Het
Cybb	C	G	X: 9,450,750	D246H	probably benign	Het
D630036H23Rik	C	A	12: 36,381,672		probably benign	Het
Dnah5	A	T	15: 28,335,718	T2277S	probably benign	Het
Dysf	T	A	6: 84,207,212	F2083Y	probably damaging	Het
Elavl4	T	A	4: 110,290,243		probably benign	Het
Elp3	A	G	14: 65,582,177	Y111H	probably damaging	Het
Eps8l2	A	T	7: 141,356,346	Q243L	probably benign	Het
Eri2	C	A	7: 119,786,068	L403F	probably damaging	Het
Fgfr4	T	A	13: 55,166,887	N614K	probably damaging	Het
Gm5108	T	G	5: 67,976,871	I74S	unknown	Het
Gpn1	T	C	5: 31,500,891	F130L	probably damaging	Het
Gpr176	T	A	2: 118,373,040	I50F	probably benign	Het
Gramd1a	A	G	7: 31,139,821	S221P	probably benign	Het
Hivep3	A	G	4: 120,097,108	T874A	possibly damaging	Het
Igkv12-40	A	G	6: 69,879,399		noncoding transcript	Het
Itgb2	C	A	10: 77,546,034	P57T	probably damaging	Het
Kcmf1	T	A	6: 72,843,005	D286V	possibly damaging	Het
Kif15	A	G	9: 123,017,261	S76G	probably benign	Het
Kpna3	C	T	14: 61,384,647	V223I	probably damaging	Het
Krt80	A	G	15: 101,364,208		probably benign	Het
Lama4	A	G	10: 39,072,812	Y857C	probably damaging	Het
Lcorl	G	T	5: 45,725,424		probably benign	Het
Map4k3	A	G	17: 80,613,919	V528A	probably benign	Het
Mmp8	T	A	9: 7,563,202	N255K	possibly damaging	Het
Npat	A	T	9: 53,562,221	K438*	probably null	Het
Olfr1246	T	A	2: 89,591,100	N5I	possibly damaging	Het
P4htm	T	C	9: 108,597,383	Y61C	probably damaging	Het
Polr3h	G	T	15: 81,917,279		probably null	Het
Prlr	C	T	15: 10,322,446	T176I	probably benign	Het
Psme4	T	G	11: 30,804,294	F184V	possibly damaging	Het
Ptgfrn	A	T	3: 101,060,652	F542I	possibly damaging	Het
Rock1	T	C	18: 10,116,792	E448G	probably damaging	Het
Rpf1	A	T	3: 146,519,463		probably null	Het
Sectm1b	T	C	11: 121,055,674	I132V	probably benign	Het
Sestd1	T	A	2: 77,187,159	H688L	probably benign	Het
Sidt2	T	C	9: 45,944,454	Y530C	probably damaging	Het
Sin3a	A	T	9: 57,111,111	K938M	probably damaging	Het
Sin3b	C	A	8: 72,749,878	R647S	probably benign	Het
Slc16a14	T	C	1: 84,912,267	H439R	possibly damaging	Het
Stc1	T	C	14: 69,032,373	V134A	probably benign	Het
Stk11ip	G	A	1: 75,524,691	V24I	possibly damaging	Het
Tbx6	G	A	7: 126,784,853	A359T	possibly damaging	Het
Thra	G	A	11: 98,763,688	V295I	possibly damaging	Het
Tmem8	T	C	17: 26,121,998	Y692H	probably benign	Het
Tnr	T	C	1: 159,912,766	M1170T	probably damaging	Het
Tpcn2	T	A	7: 145,278,784	I112F	probably damaging	Het
Trdv2-2	T	C	14: 53,961,541	L96P	probably damaging	Het
Trim24	T	A	6: 37,958,569	W832R	probably damaging	Het
Usp4	T	G	9: 108,391,760	S891A	probably benign	Het
Vmn1r88	A	T	7: 13,178,513	R265S	probably benign	Het
Vmn2r118	A	G	17: 55,624,494	L60S	probably benign	Het
Wdr74	T	C	19: 8,739,833	C220R	possibly damaging	Het
Xpo1	A	T	11: 23,268,653		probably benign	Het
Xpo1	A	T	11: 23,268,656		probably benign	Het
Zfp850	C	A	7: 27,990,195	G196V	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
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
R7308:Kcnt1	UTSW	2	25900463	missense	possibly damaging	0.74
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
R8954:Kcnt1	UTSW	2	25894326	missense	probably benign
R9231:Kcnt1	UTSW	2	25911062	missense	probably benign	0.00
R9445:Kcnt1	UTSW	2	25877947	missense	probably damaging	1.00
R9733:Kcnt1	UTSW	2	25907339	missense	probably benign	0.00
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'- ACAATCCTTTGTGCCATCTGAG -3'
(R):5'- ATGTGAGGCAGACACTCCAG -3'

Sequencing Primer
(F):5'- TTCCTTGCAGCAAGAACGG -3'
(R):5'- GGCAGACACTCCAGCCTCC -3'

Posted On

2017-02-28