Mutagenetix > Incidental Mutations

Incidental Mutation 'R5223:Kcnt1'

402405

Institutional Source

Beutler Lab

Gene Symbol

Kcnt1

Ensembl Gene

ENSMUSG00000058740

Gene Name

potassium channel, subfamily T, member 1

Synonyms

C030030G16Rik, Slack, slo2

MMRRC Submission

042796-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.178) question?

Stock #

R5223 (G1)

Quality Score

165

Status

Not validated

Chromosome

Chromosomal Location

25863734-25918273 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 25903422 bp

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 636 (D636G)

Ref Sequence

ENSEMBL: ENSMUSP00000143482 (fasta)

Gene Model

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

AlphaFold

Q6ZPR4

Predicted Effect

probably benign
Transcript: ENSMUST00000037580
AA Change: D672G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000039058
Gene: ENSMUSG00000058740
AA Change: D672G

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
AA Change: D658G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000109809
Gene: ENSMUSG00000058740
AA Change: D658G

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
AA Change: D672G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000109813
Gene: ENSMUSG00000058740
AA Change: D672G

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

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
AA Change: D652G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000132212
Gene: ENSMUSG00000058740
AA Change: D652G

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
AA Change: D670G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000143106
Gene: ENSMUSG00000058740
AA Change: D670G

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
AA Change: D638G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000142870
Gene: ENSMUSG00000058740
AA Change: D638G

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

probably benign
Transcript: ENSMUST00000200434
AA Change: D636G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000143482
Gene: ENSMUSG00000058740
AA Change: D636G

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: 99.2%
3x: 98.4%
10x: 96.6%
20x: 93.2%

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: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aatk	C	T	11: 120,013,452	V273M	possibly damaging	Het
Acin1	CCGC	CC	14: 54,642,941		probably null	Het
Acvr1b	T	A	15: 101,193,976	C46S	probably damaging	Het
Ahi1	A	T	10: 20,970,919	H416L	possibly damaging	Het
Aspm	T	A	1: 139,478,334	L1653Q	probably damaging	Het
Cacna1a	G	A	8: 84,587,195	V1533M	possibly damaging	Het
Ccdc33	C	T	9: 58,032,984	E502K	possibly damaging	Het
Ctnnd1	C	T	2: 84,616,789	V371M	probably damaging	Het
Cyp2a12	A	T	7: 27,036,463		probably null	Het
Ep400	A	G	5: 110,668,630	V2675A	probably damaging	Het
Foxh1	T	A	15: 76,668,729		probably null	Het
Gad1-ps	G	A	10: 99,445,147		noncoding transcript	Het
Gm10093	A	G	17: 78,492,438	E286G	probably benign	Het
Gm13078	T	A	4: 143,728,021	S296R	probably benign	Het
Gpnmb	C	T	6: 49,056,205	T539M	probably benign	Het
Hspa9	A	G	18: 34,952,671		probably null	Het
Hspg2	T	C	4: 137,543,914	L2454P	probably damaging	Het
Ift140	T	A	17: 25,035,812	I422N	probably benign	Het
Igkv6-32	T	C	6: 70,074,223	S50G	probably benign	Het
Il23r	T	A	6: 67,486,170	Y113F	probably benign	Het
Klhl41	G	A	2: 69,679,827	W569*	probably null	Het
Klra4	T	A	6: 130,062,147	D94V	probably damaging	Het
Lca5	T	A	9: 83,398,613	H378L	probably benign	Het
Lhx8	T	A	3: 154,321,644	T254S	probably damaging	Het
Lrch3	C	T	16: 32,914,397	R86W	probably damaging	Het
Lrp2	T	A	2: 69,524,053	N477I	probably damaging	Het
Man2a1	T	A	17: 64,712,271	I710K	probably benign	Het
Ncor1	A	T	11: 62,339,000	Y881N	probably damaging	Het
Nhsl1	T	A	10: 18,526,326	V1100E	probably damaging	Het
Olfr1208	T	C	2: 88,897,334	T88A	probably benign	Het
Olfr486	A	G	7: 108,172,708	V12A	probably benign	Het
Olfr855	T	C	9: 19,585,026	V163A	probably benign	Het
Oprk1	T	C	1: 5,589,296	V83A	probably benign	Het
Pacs1	C	T	19: 5,145,141	V472I	probably benign	Het
Pard3b	T	C	1: 62,344,113	Y789H	probably damaging	Het
Pcdha2	T	C	18: 36,940,791	Y492H	probably damaging	Het
Pcnt	T	C	10: 76,380,272	N2261D	probably damaging	Het
Pex5l	A	T	3: 32,958,796	S15T	probably damaging	Het
Plekhg4	A	G	8: 105,378,949	N682S	probably benign	Het
Poc5	A	T	13: 96,402,955	M335L	probably benign	Het
Polr1a	C	T	6: 71,967,907	R1316W	possibly damaging	Het
Pp2d1	T	C	17: 53,507,845	H617R	probably benign	Het
Prpsap1	T	C	11: 116,488,148	K65E	probably benign	Het
Ptgfrn	T	C	3: 101,045,593	E775G	probably benign	Het
Ptprc	T	A	1: 138,117,862	I87F	probably benign	Het
Rbbp8	C	A	18: 11,721,690	A324E	probably benign	Het
Rfx6	G	T	10: 51,677,996	G63*	probably null	Het
Rpl37a	T	C	1: 72,712,149	M47T	probably benign	Het
Samm50	T	G	15: 84,200,630	N187K	probably benign	Het
Skiv2l	A	G	17: 34,845,166		probably null	Het
Slamf9	T	C	1: 172,476,232	I48T	possibly damaging	Het
Slc2a12	A	G	10: 22,702,032	K576E	probably damaging	Het
Slc4a10	G	A	2: 62,253,366	G388S	probably damaging	Het
Smtn	G	T	11: 3,529,530	N512K	probably benign	Het
Sntb1	C	G	15: 55,642,795	G461R	probably damaging	Het
Sspo	A	G	6: 48,478,324	Y3040C	probably damaging	Het
Stat1	T	A	1: 52,144,242	V389E	probably damaging	Het
Sult5a1	A	T	8: 123,145,422	M227K	probably damaging	Het
Thsd4	T	C	9: 60,057,042	D389G	probably damaging	Het
Tnxb	T	C	17: 34,704,078	V2545A	possibly damaging	Het
Tpo	T	A	12: 30,092,590	I712F	probably damaging	Het
Trim62	T	C	4: 128,909,411	V418A	probably damaging	Het
Uqcrc1	C	A	9: 108,942,156	H95N	probably damaging	Het
Vmn2r114	ATTT	ATT	17: 23,290,932		probably null	Het
Vmn2r66	T	C	7: 85,007,885	D104G	probably benign	Het
Wdr26	T	C	1: 181,187,686	I371V	probably benign	Het
Wdr78	T	A	4: 103,049,403	S738C	possibly damaging	Het
Zfp273	T	G	13: 67,826,179	C475W	probably damaging	Het
Zfp738	G	T	13: 67,673,063	T55K	probably damaging	Het
Zmym2	A	G	14: 56,946,514	I978V	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
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
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
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'- TCGGGGTCTACTCAACATCAC -3'
(R):5'- ACTGAGGAAGCTCCACTCAG -3'

Sequencing Primer
(F):5'- TCACCACCACTCAGGGG -3'
(R):5'- GAGGAAGCTCCACTCAGCACTC -3'

Posted On

2016-07-22