Mutagenetix > Incidental Mutation

Incidental Mutation 'R5005:Kcnt1'

390129

Institutional Source

Beutler Lab

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: 0.196) question?

Stock #

R5005 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

25753807-25808285 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 25791358 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Arginine at position 567 (H567R)

Ref Sequence

ENSEMBL: ENSMUSP00000143106 (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: H567R

PolyPhen 2 Score 0.177 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000039058
Gene: ENSMUSG00000058740
AA Change: H567R

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: H553R

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

SMART Domains

Protein: ENSMUSP00000109809
Gene: ENSMUSG00000058740
AA Change: H553R

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: H567R

PolyPhen 2 Score 0.085 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000109813
Gene: ENSMUSG00000058740
AA Change: H567R

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 benign
Transcript: ENSMUST00000171268
AA Change: H547R

PolyPhen 2 Score 0.094 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000132212
Gene: ENSMUSG00000058740
AA Change: H547R

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: H567R

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

SMART Domains

Protein: ENSMUSP00000143106
Gene: ENSMUSG00000058740
AA Change: H567R

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: H533R

PolyPhen 2 Score 0.150 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000142870
Gene: ENSMUSG00000058740
AA Change: H533R

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: H533R

PolyPhen 2 Score 0.150 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000143482
Gene: ENSMUSG00000058740
AA Change: H533R

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: 99.1%
3x: 98.4%
10x: 96.6%
20x: 93.3%

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: 23 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ap2b1	T	C	11: 83,230,218 (GRCm39)	V412A	probably damaging	Het
Asic2	T	C	11: 80,774,252 (GRCm39)	Y455C	probably damaging	Het
Bbx	T	C	16: 50,086,714 (GRCm39)	K61E	probably damaging	Het
Cd207	T	C	6: 83,651,367 (GRCm39)	E196G	possibly damaging	Het
Chn1	T	A	2: 73,490,130 (GRCm39)	Q49L	possibly damaging	Het
Cpd	A	G	11: 76,704,396 (GRCm39)	I406T	probably damaging	Het
D630003M21Rik	C	T	2: 158,053,563 (GRCm39)	V642I	possibly damaging	Het
Dnah7b	C	T	1: 46,281,188 (GRCm39)	L2750F	probably damaging	Het
Epyc	A	G	10: 97,510,562 (GRCm39)	T122A	probably benign	Het
Magi2	A	G	5: 20,739,444 (GRCm39)	D729G	probably damaging	Het
Myh4	G	T	11: 67,144,241 (GRCm39)	V1204L	probably benign	Het
Noa1	T	C	5: 77,456,873 (GRCm39)	Y344C	probably damaging	Het
Or1j19	A	G	2: 36,677,370 (GRCm39)	M278V	probably benign	Het
Or4c102	A	G	2: 88,422,348 (GRCm39)	M67V	probably benign	Het
Pex1	T	C	5: 3,672,310 (GRCm39)	S718P	probably damaging	Het
Plxnb1	T	A	9: 108,935,647 (GRCm39)	V1061E	probably benign	Het
Rdh16f1	A	G	10: 127,624,546 (GRCm39)	Q128R	probably benign	Het
Rnd2	C	T	11: 101,359,825 (GRCm39)	L57F	probably damaging	Het
Slc26a9	A	T	1: 131,693,625 (GRCm39)	Q705L	probably damaging	Het
Tas2r143	T	A	6: 42,377,658 (GRCm39)	C163S	probably benign	Het
Tigd2	A	G	6: 59,188,131 (GRCm39)	T333A	probably benign	Het
Urb2	T	C	8: 124,757,920 (GRCm39)	V1209A	probably damaging	Het
Vmn2r71	T	A	7: 85,273,352 (GRCm39)	V722D	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
IGL01593:Kcnt1	APN	2	25,788,766 (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
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

Predicted Primers

PCR Primer
(F):5'- GCAGGATGCATTTAACCAATTGG -3'
(R):5'- TGTCCTGACCACCTCACAAG -3'

Sequencing Primer
(F):5'- CCAATTGGGTAAGAGGGGC -3'
(R):5'- CTCACAAGGTGCGCAGAG -3'

Posted On

2016-06-06