Mutagenetix > Incidental Mutation

Incidental Mutation 'R5665:Kcnt1'

444310

Institutional Source

Beutler Lab

Gene Symbol

Kcnt1

Ensembl Gene

ENSMUSG00000058740

Gene Name

potassium channel, subfamily T, member 1

Synonyms

C030030G16Rik, Slack, slo2

MMRRC Submission

043308-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.217) question?

Stock #

R5665 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

25863734-25918273 bp(+) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

C to T at 25901909 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Stop codon at position 590 (Q590*)

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 null
Transcript: ENSMUST00000037580
AA Change: Q624*

SMART Domains

Protein: ENSMUSP00000039058
Gene: ENSMUSG00000058740
AA Change: Q624*

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 null
Transcript: ENSMUST00000114172
AA Change: Q610*

SMART Domains

Protein: ENSMUSP00000109809
Gene: ENSMUSG00000058740
AA Change: Q610*

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 null
Transcript: ENSMUST00000114176
AA Change: Q624*

SMART Domains

Protein: ENSMUSP00000109813
Gene: ENSMUSG00000058740
AA Change: Q624*

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

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 null
Transcript: ENSMUST00000171268
AA Change: Q604*

SMART Domains

Protein: ENSMUSP00000132212
Gene: ENSMUSG00000058740
AA Change: Q604*

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 null
Transcript: ENSMUST00000197917
AA Change: Q624*

SMART Domains

Protein: ENSMUSP00000143106
Gene: ENSMUSG00000058740
AA Change: Q624*

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 null
Transcript: ENSMUST00000198204
AA Change: Q590*

SMART Domains

Protein: ENSMUSP00000142870
Gene: ENSMUSG00000058740
AA Change: Q590*

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 null
Transcript: ENSMUST00000200434
AA Change: Q590*

SMART Domains

Protein: ENSMUSP00000143482
Gene: ENSMUSG00000058740
AA Change: Q590*

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: 99.3%
3x: 98.7%
10x: 97.3%
20x: 95.4%

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: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930505A04Rik	C	T	11: 30,426,349	V173M	probably damaging	Het
Acaca	G	T	11: 84,245,294	E492*	probably null	Het
Acp7	T	A	7: 28,616,543	K206M	probably benign	Het
Agbl1	T	A	7: 76,589,503	F584I	probably damaging	Het
Ahi1	A	G	10: 21,055,047	I929V	possibly damaging	Het
Ank3	G	A	10: 70,002,565	R1566K	possibly damaging	Het
Arhgef40	A	G	14: 52,000,900	I1279V	possibly damaging	Het
Arl14	A	C	3: 69,223,038	T173P	probably damaging	Het
Asap1	A	G	15: 64,312,453	S44P	probably damaging	Het
Btbd7	C	A	12: 102,785,197	A1103S	probably benign	Het
Capn10	T	A	1: 92,937,931		probably null	Het
Capn7	T	C	14: 31,369,802	F719L	probably benign	Het
Casp7	G	A	19: 56,440,982	D267N	probably benign	Het
Ccdc13	C	A	9: 121,814,290	K348N	probably damaging	Het
Chchd1	T	C	14: 20,703,110	F13L	probably benign	Het
Clcn6	T	A	4: 148,014,561	M442L	possibly damaging	Het
Col6a3	T	C	1: 90,827,880	E229G	probably benign	Het
Cyb5r3	A	G	15: 83,154,554	F278S	probably damaging	Het
Dhx16	C	T	17: 35,891,086	Q1002*	probably null	Het
Dppa4	T	C	16: 48,291,015	L121P	probably benign	Het
Dpyd	A	G	3: 118,917,092	E383G	probably damaging	Het
Eif4g3	A	G	4: 138,126,589	T489A	probably benign	Het
Elovl1	G	T	4: 118,431,635	V174L	probably damaging	Het
Elp3	T	C	14: 65,551,402	K392E	possibly damaging	Het
Fancd2os	C	A	6: 113,598,024	W7L	probably damaging	Het
Fchsd2	A	G	7: 101,110,784	T23A	possibly damaging	Het
Gabrp	C	G	11: 33,554,308	A336P	possibly damaging	Het
Gcm2	T	A	13: 41,109,911	Y15F	possibly damaging	Het
Gpr132	G	A	12: 112,852,796	R137C	probably damaging	Het
Herc1	A	G	9: 66,465,435	E3091G	probably damaging	Het
Homer1	A	T	13: 93,356,102	M184L	probably benign	Het
Izumo1r	T	C	9: 14,900,849	E117G	probably damaging	Het
Lama1	G	T	17: 67,770,987	C1139F	probably damaging	Het
Med29	C	T	7: 28,386,814	A190T	probably benign	Het
Mgea5	A	C	19: 45,776,997	S124A	probably benign	Het
Muc4	T	C	16: 32,750,782	V220A	probably benign	Het
Mxra8	G	T	4: 155,842,921	V388L	probably benign	Het
Myo5a	T	C	9: 75,144,181		probably null	Het
Myrip	A	G	9: 120,461,433	Y706C	probably damaging	Het
Nphp4	T	C	4: 152,506,485	V313A	probably benign	Het
Olfm2	T	G	9: 20,668,544		probably null	Het
Olfr1113	T	A	2: 87,213,728	S279T	probably benign	Het
Olfr248	T	C	1: 174,391,375	F102S	probably damaging	Het
Pcdh15	C	T	10: 74,626,788	P1398L	probably damaging	Het
Pdpr	A	G	8: 111,114,811	E225G	possibly damaging	Het
Pigs	C	A	11: 78,328,769		probably null	Het
Pkhd1	T	A	1: 20,588,531	T159S	probably damaging	Het
Plk4	A	G	3: 40,813,586	T87A	possibly damaging	Het
Plxna4	T	C	6: 32,215,722	Y768C	probably damaging	Het
Prl3d3	T	A	13: 27,159,081		probably null	Het
Pygb	T	C	2: 150,820,888		probably null	Het
Rnf114	T	C	2: 167,510,934	I118T	possibly damaging	Het
Sbno2	A	G	10: 80,058,453	L1099P	probably benign	Het
Scaper	T	C	9: 55,807,632	K791E	probably damaging	Het
Serping1	T	C	2: 84,771,545	T194A	probably damaging	Het
Slc12a9	A	G	5: 137,321,403	S617P	possibly damaging	Het
Slk	G	A	19: 47,636,457	R1039H	probably damaging	Het
Sntb1	T	A	15: 55,792,139	E227V	probably benign	Het
Sostdc1	C	A	12: 36,314,408	P39T	probably benign	Het
Spred1	C	T	2: 117,153,005	R16*	probably null	Het
Srpk2	A	G	5: 23,518,477	I547T	probably damaging	Het
Stt3a	A	G	9: 36,759,314	Y54H	probably damaging	Het
Stt3b	A	T	9: 115,266,147	L272H	probably damaging	Het
Syne2	T	A	12: 76,108,217		probably null	Het
Uso1	A	T	5: 92,198,337	E793V	possibly damaging	Het
Usp15	A	T	10: 123,130,987	L476*	probably null	Het
Vmn1r189	T	C	13: 22,102,166	Y167C	probably damaging	Het
Vmn2r24	A	G	6: 123,786,979	T272A	possibly damaging	Het
Vps13a	A	T	19: 16,668,690	H1994Q	probably damaging	Het
Zbtb10	T	C	3: 9,265,192	S537P	probably damaging	Het
Zbtb12	T	C	17: 34,895,883	S215P	possibly damaging	Het
Zfp346	T	C	13: 55,113,102	M81T	probably benign	Het
Zfp800	T	C	6: 28,244,513	D151G	probably null	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
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
R9231:Kcnt1	UTSW	2	25911062	missense	probably benign	0.00
R9445:Kcnt1	UTSW	2	25877947	missense	probably damaging	1.00
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'- TCAGGACAATGTGAGCCAC -3'
(R):5'- AGAGCTGGGTTTCAGGAGTC -3'

Sequencing Primer
(F):5'- TGAAGGTCCAGGCCATGTCTG -3'
(R):5'- AGTCTCCTGCCCAGTGG -3'

Posted On

2016-11-09