Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01593:Kcnt1'

91658

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Kcnt1

Ensembl Gene

ENSMUSG00000058740

Gene Name

potassium channel, subfamily T, member 1

Synonyms

C030030G16Rik, Slack, slo2

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.194) question?

Stock #

IGL01593

Quality Score

Status

Chromosome

Chromosomal Location

25753807-25808285 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 25788766 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 400 (V400E)

Ref Sequence

ENSEMBL: ENSMUSP00000143106 (fasta)

Gene Model

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

AlphaFold

Q6ZPR4

Predicted Effect

probably damaging
Transcript: ENSMUST00000037580
AA Change: V400E

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

SMART Domains

Protein: ENSMUSP00000039058
Gene: ENSMUSG00000058740
AA Change: V400E

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

noncoding transcript
Transcript: ENSMUST00000114170

SMART Domains

Protein: ENSMUSP00000109807
Gene: ENSMUSG00000058740

Domain	Start	End	E-Value	Type
low complexity region	13	32	N/A	INTRINSIC
transmembrane domain	84	103	N/A	INTRINSIC
transmembrane domain	143	165	N/A	INTRINSIC
transmembrane domain	174	196	N/A	INTRINSIC
Pfam:Ion_trans_2	239	317	4.2e-14	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000114172
AA Change: V386E

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000109809
Gene: ENSMUSG00000058740
AA Change: V386E

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: V400E

PolyPhen 2 Score 0.413 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000109813
Gene: ENSMUSG00000058740
AA Change: V400E

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 damaging
Transcript: ENSMUST00000198204
AA Change: V366E

PolyPhen 2 Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000142870
Gene: ENSMUSG00000058740
AA Change: V366E

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 damaging
Transcript: ENSMUST00000197917
AA Change: V400E

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000143106
Gene: ENSMUSG00000058740
AA Change: V400E

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 damaging
Transcript: ENSMUST00000171268
AA Change: V380E

PolyPhen 2 Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000132212
Gene: ENSMUSG00000058740
AA Change: V380E

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: ENSMUST00000200434
AA Change: V366E

PolyPhen 2 Score 0.061 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000143482
Gene: ENSMUSG00000058740
AA Change: V366E

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

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

Coding Region Coverage

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: 32 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc12	A	T	8: 87,284,279 (GRCm39)	I310N	probably damaging	Het
Abtb3	T	A	10: 85,490,339 (GRCm39)		probably benign	Het
Ackr4	C	T	9: 103,963,130 (GRCm39)		probably benign	Het
Ankib1	A	T	5: 3,782,590 (GRCm39)	D346E	probably benign	Het
Asap2	G	T	12: 21,263,203 (GRCm39)	A273S	probably null	Het
Atp6v0d2	C	A	4: 19,881,436 (GRCm39)	R219L	probably damaging	Het
Atp6v1e2	A	T	17: 87,251,727 (GRCm39)	F224I	probably damaging	Het
Bnc2	T	C	4: 84,194,478 (GRCm39)		probably null	Het
Cd33	A	G	7: 43,179,705 (GRCm39)	L241P	possibly damaging	Het
Clec4g	A	T	8: 3,769,474 (GRCm39)		probably null	Het
Dym	C	T	18: 75,247,852 (GRCm39)		probably benign	Het
Enpp5	A	G	17: 44,391,612 (GRCm39)	T14A	probably benign	Het
Ggt1	T	C	10: 75,421,121 (GRCm39)		probably null	Het
Gm17541	T	A	12: 4,739,868 (GRCm39)		probably benign	Het
Gpr39	A	T	1: 125,605,188 (GRCm39)	I39F	probably benign	Het
Kcnb1	G	T	2: 166,948,127 (GRCm39)	F240L	probably damaging	Het
Klhdc7a	A	G	4: 139,694,125 (GRCm39)	I274T	probably damaging	Het
Lrwd1	A	T	5: 136,163,483 (GRCm39)	L71Q	probably damaging	Het
Mycbp2	A	T	14: 103,528,723 (GRCm39)		probably null	Het
Nckap1	A	T	2: 80,350,914 (GRCm39)	M725K	probably benign	Het
Odad2	T	C	18: 7,127,345 (GRCm39)	K956R	probably benign	Het
Or2b7	T	A	13: 21,739,389 (GRCm39)	I268F	probably damaging	Het
Pole2	C	T	12: 69,269,873 (GRCm39)		probably null	Het
Prss32	A	G	17: 24,074,982 (GRCm39)	T111A	probably benign	Het
Rgs9	A	G	11: 109,139,875 (GRCm39)		probably benign	Het
Slc2a4	A	G	11: 69,835,654 (GRCm39)	C361R	probably damaging	Het
Ston1	G	A	17: 88,944,438 (GRCm39)	G615R	probably null	Het
Tas2r139	T	G	6: 42,117,891 (GRCm39)	W8G	probably benign	Het
Tmem101	A	T	11: 102,046,704 (GRCm39)	L55Q	probably damaging	Het
Tnni3k	T	C	3: 154,646,666 (GRCm39)		probably null	Het
Uba2	A	G	7: 33,845,689 (GRCm39)	V478A	probably damaging	Het
Vps13a	T	C	19: 16,739,545 (GRCm39)	D52G	probably damaging	Het

Other mutations in Kcnt1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00718:Kcnt1	APN	2	25,782,419 (GRCm39)	missense	probably damaging	0.98
IGL01358:Kcnt1	APN	2	25,806,017 (GRCm39)	missense	probably damaging	1.00
IGL01779:Kcnt1	APN	2	25,790,979 (GRCm39)	missense	probably damaging	1.00
IGL01800:Kcnt1	APN	2	25,778,137 (GRCm39)	missense	probably damaging	1.00
IGL01834:Kcnt1	APN	2	25,802,731 (GRCm39)	critical splice donor site	probably null
IGL02001:Kcnt1	APN	2	25,798,164 (GRCm39)	missense	probably damaging	1.00
IGL02061:Kcnt1	APN	2	25,790,494 (GRCm39)	critical splice donor site	probably null
IGL02121:Kcnt1	APN	2	25,791,877 (GRCm39)	missense	probably damaging	1.00
IGL02646:Kcnt1	APN	2	25,790,892 (GRCm39)	splice site	probably benign
IGL02683:Kcnt1	APN	2	25,790,937 (GRCm39)	missense	possibly damaging	0.85
IGL03028:Kcnt1	APN	2	25,799,215 (GRCm39)	critical splice acceptor site	probably null
IGL03139:Kcnt1	APN	2	25,784,480 (GRCm39)	splice site	probably benign
R0070:Kcnt1	UTSW	2	25,782,374 (GRCm39)	missense	probably benign	0.00
R0070:Kcnt1	UTSW	2	25,782,374 (GRCm39)	missense	probably benign	0.00
R0149:Kcnt1	UTSW	2	25,788,276 (GRCm39)	splice site	probably benign
R0294:Kcnt1	UTSW	2	25,778,122 (GRCm39)	missense	probably damaging	0.99
R0367:Kcnt1	UTSW	2	25,797,640 (GRCm39)	missense	probably damaging	1.00
R0481:Kcnt1	UTSW	2	25,782,508 (GRCm39)	missense	probably damaging	0.98
R0666:Kcnt1	UTSW	2	25,781,255 (GRCm39)	splice site	probably benign
R1364:Kcnt1	UTSW	2	25,798,106 (GRCm39)	missense	probably damaging	0.99
R1553:Kcnt1	UTSW	2	25,790,397 (GRCm39)	missense	probably damaging	1.00
R1916:Kcnt1	UTSW	2	25,790,481 (GRCm39)	missense	probably damaging	1.00
R1999:Kcnt1	UTSW	2	25,782,372 (GRCm39)	missense	probably benign
R2079:Kcnt1	UTSW	2	25,790,260 (GRCm39)	missense	possibly damaging	0.48
R2166:Kcnt1	UTSW	2	25,781,195 (GRCm39)	splice site	probably benign
R2295:Kcnt1	UTSW	2	25,790,933 (GRCm39)	missense	probably damaging	1.00
R3688:Kcnt1	UTSW	2	25,784,371 (GRCm39)	missense	probably damaging	1.00
R3820:Kcnt1	UTSW	2	25,790,904 (GRCm39)	missense	probably damaging	1.00
R3826:Kcnt1	UTSW	2	25,805,880 (GRCm39)	critical splice donor site	probably null
R3980:Kcnt1	UTSW	2	25,783,226 (GRCm39)	missense	possibly damaging	0.91
R4031:Kcnt1	UTSW	2	25,806,060 (GRCm39)	missense	possibly damaging	0.77
R4093:Kcnt1	UTSW	2	25,767,927 (GRCm39)	missense	probably damaging	0.99
R4361:Kcnt1	UTSW	2	25,768,044 (GRCm39)	missense	probably benign	0.03
R4367:Kcnt1	UTSW	2	25,797,638 (GRCm39)	missense	probably damaging	1.00
R4850:Kcnt1	UTSW	2	25,798,112 (GRCm39)	missense	probably damaging	1.00
R5005:Kcnt1	UTSW	2	25,791,358 (GRCm39)	missense	probably damaging	1.00
R5119:Kcnt1	UTSW	2	25,799,334 (GRCm39)	intron	probably benign
R5223:Kcnt1	UTSW	2	25,793,434 (GRCm39)	missense	probably benign
R5243:Kcnt1	UTSW	2	25,798,086 (GRCm39)	missense	probably damaging	1.00
R5323:Kcnt1	UTSW	2	25,799,289 (GRCm39)	missense	possibly damaging	0.59
R5665:Kcnt1	UTSW	2	25,791,921 (GRCm39)	nonsense	probably null
R5888:Kcnt1	UTSW	2	25,798,122 (GRCm39)	missense	probably damaging	1.00
R5906:Kcnt1	UTSW	2	25,788,413 (GRCm39)	missense	probably damaging	1.00
R5906:Kcnt1	UTSW	2	25,784,536 (GRCm39)	intron	probably benign
R5927:Kcnt1	UTSW	2	25,799,388 (GRCm39)	intron	probably benign
R6160:Kcnt1	UTSW	2	25,782,395 (GRCm39)	missense	probably damaging	0.96
R6161:Kcnt1	UTSW	2	25,793,397 (GRCm39)	missense	probably benign	0.00
R6179:Kcnt1	UTSW	2	25,783,192 (GRCm39)	missense	probably damaging	1.00
R6222:Kcnt1	UTSW	2	25,782,522 (GRCm39)	missense	probably damaging	1.00
R6268:Kcnt1	UTSW	2	25,793,609 (GRCm39)	splice site	probably null
R6336:Kcnt1	UTSW	2	25,778,767 (GRCm39)	splice site	probably null
R6395:Kcnt1	UTSW	2	25,799,251 (GRCm39)	missense	possibly damaging	0.81
R6564:Kcnt1	UTSW	2	25,801,063 (GRCm39)	missense	probably benign	0.09
R6944:Kcnt1	UTSW	2	25,767,840 (GRCm39)	intron	probably benign
R7236:Kcnt1	UTSW	2	25,799,951 (GRCm39)	splice site	probably null
R7308:Kcnt1	UTSW	2	25,790,475 (GRCm39)	missense	possibly damaging	0.74
R7346:Kcnt1	UTSW	2	25,753,855 (GRCm39)	unclassified	probably benign
R7419:Kcnt1	UTSW	2	25,806,011 (GRCm39)	missense	probably benign	0.11
R7461:Kcnt1	UTSW	2	25,791,358 (GRCm39)	missense	probably benign	0.01
R7470:Kcnt1	UTSW	2	25,799,845 (GRCm39)	missense	probably damaging	0.96
R7566:Kcnt1	UTSW	2	25,806,048 (GRCm39)	missense	probably benign	0.31
R7613:Kcnt1	UTSW	2	25,791,358 (GRCm39)	missense	probably benign	0.01
R7778:Kcnt1	UTSW	2	25,791,901 (GRCm39)	missense	probably benign	0.10
R8031:Kcnt1	UTSW	2	25,798,054 (GRCm39)	splice site	probably benign
R8088:Kcnt1	UTSW	2	25,784,326 (GRCm39)	missense	possibly damaging	0.63
R8113:Kcnt1	UTSW	2	25,791,223 (GRCm39)	missense	possibly damaging	0.67
R8378:Kcnt1	UTSW	2	25,797,283 (GRCm39)	missense	probably benign	0.03
R8954:Kcnt1	UTSW	2	25,784,338 (GRCm39)	missense	probably benign
R9231:Kcnt1	UTSW	2	25,801,074 (GRCm39)	missense	probably benign	0.00
R9445:Kcnt1	UTSW	2	25,767,959 (GRCm39)	missense	probably damaging	1.00
R9733:Kcnt1	UTSW	2	25,797,351 (GRCm39)	missense	probably benign	0.00
Z1176:Kcnt1	UTSW	2	25,796,808 (GRCm39)	missense	probably benign	0.07
Z1177:Kcnt1	UTSW	2	25,799,277 (GRCm39)	nonsense	probably null
Z1177:Kcnt1	UTSW	2	25,791,240 (GRCm39)	nonsense	probably null

Posted On

2013-12-09