Mutagenetix > Incidental Mutation

Incidental Mutation 'R4784:Kcnc1'

366833

Institutional Source

Beutler Lab

Gene Symbol

Kcnc1

Ensembl Gene

ENSMUSG00000058975

Gene Name

potassium voltage gated channel, Shaw-related subfamily, member 1

Synonyms

Shaw, KShIIIB, NGK2, KV4, Kv3.1, Kcr2-1, C230009H10Rik

MMRRC Submission

041994-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.197) question?

Stock #

R4784 (G1)

Quality Score

196

Status

Not validated

Chromosome

Chromosomal Location

46045921-46088128 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 46086711 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Isoleucine at position 570 (S570I)

Ref Sequence

ENSEMBL: ENSMUSP00000124938 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000025202] [ENSMUST00000160433]

AlphaFold

P15388

Predicted Effect

probably benign
Transcript: ENSMUST00000025202

SMART Domains

Protein: ENSMUSP00000025202
Gene: ENSMUSG00000058975

Domain	Start	End	E-Value	Type
BTB	8	112	2.29e-15	SMART
low complexity region	125	149	N/A	INTRINSIC
Pfam:Ion_trans	247	435	2.8e-34	PFAM
Pfam:Ion_trans_2	346	440	1.5e-12	PFAM
low complexity region	449	464	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000160433
AA Change: S570I

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000124938
Gene: ENSMUSG00000058975
AA Change: S570I

Domain	Start	End	E-Value	Type
BTB	8	112	2.29e-15	SMART
low complexity region	125	149	N/A	INTRINSIC
Pfam:Ion_trans	189	447	6.9e-47	PFAM
Pfam:Ion_trans_2	347	440	1.4e-12	PFAM
low complexity region	449	464	N/A	INTRINSIC

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.9%
20x: 94.3%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of a family of integral membrane proteins that mediate the voltage-dependent potassium ion permeability of excitable membranes. Alternative splicing is thought to result in two transcript variants encoding isoforms that differ at their C-termini. These isoforms have had conflicting names in the literature: the longer isoform has been called both "b" and "alpha", while the shorter isoform has been called both "a" and "beta" (PMIDs 1432046, 12091563). [provided by RefSeq, Oct 2014]

Allele List at MGI

Other mutations in this stock

Total: 106 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adra1a	T	A	14: 66,875,273 (GRCm39)	S83T	probably damaging	Het
Aff1	T	A	5: 103,994,905 (GRCm39)	Y1034*	probably null	Het
Ago3	A	T	4: 126,262,296 (GRCm39)	M418K	probably benign	Het
Alpk1	G	T	3: 127,481,241 (GRCm39)	N175K	possibly damaging	Het
Als2	A	G	1: 59,254,472 (GRCm39)	V295A	probably benign	Het
Arhgap32	A	G	9: 32,040,949 (GRCm39)	D67G	probably damaging	Het
Arhgap32	T	C	9: 32,172,076 (GRCm39)	C1619R	probably damaging	Het
Asns	T	G	6: 7,678,029 (GRCm39)	K350Q	probably benign	Het
Atp8b5	A	T	4: 43,356,980 (GRCm39)	D576V	probably damaging	Het
Atrnl1	A	G	19: 57,617,590 (GRCm39)	I122V	probably damaging	Het
Baz1b	T	G	5: 135,246,267 (GRCm39)	L572R	possibly damaging	Het
C4b	T	C	17: 34,952,380 (GRCm39)	T1220A	probably benign	Het
Carmil3	T	C	14: 55,738,778 (GRCm39)		probably null	Het
Ccndbp1	A	T	2: 120,839,003 (GRCm39)	T5S	probably benign	Het
Chaf1b	T	C	16: 93,681,430 (GRCm39)	V16A	probably damaging	Het
Chd8	C	A	14: 52,442,825 (GRCm39)	C575F	probably damaging	Het
Chrna10	G	A	7: 101,762,426 (GRCm39)	P255S	possibly damaging	Het
Clip1	T	C	5: 123,717,356 (GRCm39)	D1387G	probably damaging	Het
Col12a1	C	A	9: 79,585,776 (GRCm39)	V1228F	possibly damaging	Het
Cxcr5	T	C	9: 44,424,638 (GRCm39)	T340A	probably benign	Het
Cyp2e1	G	A	7: 140,343,821 (GRCm39)	V20I	possibly damaging	Het
Dchs1	A	G	7: 105,415,133 (GRCm39)	Y684H	probably damaging	Het
Dcun1d3	T	C	7: 119,456,887 (GRCm39)	E275G	probably damaging	Het
Dgcr8	G	A	16: 18,076,174 (GRCm39)	R4*	probably null	Het
Dglucy	A	T	12: 100,804,923 (GRCm39)	D168V	probably damaging	Het
Dnah1	T	A	14: 30,985,436 (GRCm39)	K3818N	probably damaging	Het
Dnajc17	T	C	2: 119,009,909 (GRCm39)	D239G	probably benign	Het
Dok2	C	T	14: 71,015,314 (GRCm39)	P347L	probably benign	Het
Elavl2	T	C	4: 91,142,379 (GRCm39)	R265G	probably null	Het
Elf1	T	A	14: 79,818,183 (GRCm39)	N567K	probably benign	Het
Epha8	A	T	4: 136,660,633 (GRCm39)	I695N	probably damaging	Het
Fam178b	C	A	1: 36,671,496 (GRCm39)		probably null	Het
Fam76a	A	T	4: 132,629,428 (GRCm39)		probably null	Het
Fam76a	A	G	4: 132,643,501 (GRCm39)	Y78H	probably damaging	Het
Fbn1	A	T	2: 125,166,839 (GRCm39)	C2026S	probably damaging	Het
Fbxo4	T	C	15: 3,998,523 (GRCm39)	T312A	probably benign	Het
Fscn2	T	C	11: 120,258,813 (GRCm39)	F453L	possibly damaging	Het
Gabrb2	T	C	11: 42,488,469 (GRCm39)	C312R	probably damaging	Het
Gba2	A	C	4: 43,568,315 (GRCm39)	L684R	probably damaging	Het
Golga2	T	A	2: 32,187,168 (GRCm39)	N89K	probably damaging	Het
Gpx6	C	T	13: 21,496,434 (GRCm39)	Q3*	probably null	Het
Grin1	T	A	2: 25,182,393 (GRCm39)	H956L	possibly damaging	Het
H2-Q7	T	G	17: 35,658,914 (GRCm39)	C122G	probably damaging	Het
Hcar2	C	G	5: 124,002,513 (GRCm39)	G330A	probably benign	Het
Hes3	A	G	4: 152,372,289 (GRCm39)	S37P	probably damaging	Het
Hs3st3b1	T	C	11: 63,780,086 (GRCm39)	H347R	probably benign	Het
Il1rl1	A	G	1: 40,489,348 (GRCm39)	R367G	probably damaging	Het
Kctd3	T	C	1: 188,706,665 (GRCm39)	I523M	probably damaging	Het
Klk14	G	A	7: 43,341,501 (GRCm39)	C51Y	probably damaging	Het
Kntc1	T	G	5: 123,954,825 (GRCm39)	M2081R	possibly damaging	Het
Krt87	A	G	15: 101,385,837 (GRCm39)	S253P	probably damaging	Het
Ktn1	T	A	14: 47,930,953 (GRCm39)		probably null	Het
Lair1	T	A	7: 4,012,731 (GRCm39)	M251L	probably benign	Het
Lama3	A	T	18: 12,582,601 (GRCm39)	H631L	probably benign	Het
Lamc1	T	C	1: 153,107,486 (GRCm39)	N1231S	probably damaging	Het
Lin54	A	G	5: 100,607,597 (GRCm39)	I250T	probably damaging	Het
Lrit1	C	T	14: 36,784,193 (GRCm39)	T507M	possibly damaging	Het
Lrp11	A	G	10: 7,479,965 (GRCm39)	H345R	possibly damaging	Het
Lrp6	A	C	6: 134,456,502 (GRCm39)	S921A	probably benign	Het
Lrrc27	A	G	7: 138,822,614 (GRCm39)	T502A	probably benign	Het
Marf1	A	C	16: 13,970,321 (GRCm39)	S133A	probably benign	Het
Mga	C	T	2: 119,733,538 (GRCm39)	P129S	probably damaging	Het
Mgat4e	T	C	1: 134,469,063 (GRCm39)	N327S	probably damaging	Het
Mlh1	A	G	9: 111,068,866 (GRCm39)	Y499H	probably benign	Het
Mrgpra1	A	G	7: 46,985,218 (GRCm39)	S154P	probably damaging	Het
Myo1h	A	G	5: 114,498,660 (GRCm39)	I919V	possibly damaging	Het
Naalad2	T	C	9: 18,262,214 (GRCm39)	R442G	probably damaging	Het
Nat8f4	T	C	6: 85,878,481 (GRCm39)	H14R	probably benign	Het
Nav1	A	G	1: 135,386,477 (GRCm39)	S1184P	probably damaging	Het
Nckap1	T	A	2: 80,337,278 (GRCm39)	N986I	probably benign	Het
Ndufaf2	C	G	13: 108,189,314 (GRCm39)	A145P	probably damaging	Het
Nop9	AGAGGAGGAGGAGGAGGA	AGAGGAGGAGGAGGA	14: 55,983,859 (GRCm39)		probably benign	Het
Nphp4	G	A	4: 152,639,003 (GRCm39)	R878K	probably benign	Het
Nutm1	G	A	2: 112,079,281 (GRCm39)	A878V	probably benign	Het
Or4f56	A	T	2: 111,703,395 (GRCm39)	D268E	possibly damaging	Het
Or52e8b	A	C	7: 104,673,737 (GRCm39)	I150S	probably damaging	Het
Or5k1b	G	T	16: 58,580,911 (GRCm39)	F209L	probably damaging	Het
Orc6	T	A	8: 86,029,579 (GRCm39)	I41K	probably damaging	Het
Pikfyve	A	G	1: 65,307,005 (GRCm39)	T1798A	probably benign	Het
Ppp1r14a	A	T	7: 28,991,486 (GRCm39)	E98V	possibly damaging	Het
Prpf8	T	A	11: 75,383,331 (GRCm39)	D521E	probably damaging	Het
Pudp	A	G	18: 50,701,136 (GRCm39)	V199A	probably damaging	Het
Rab3c	T	C	13: 110,198,434 (GRCm39)	E198G	probably benign	Het
Ramac	T	A	7: 81,418,163 (GRCm39)	W73R	probably damaging	Het
Rbl2	A	G	8: 91,812,196 (GRCm39)	Y255C	probably damaging	Het
Rbm12	T	C	2: 155,938,484 (GRCm39)	D596G	possibly damaging	Het
Sipa1l3	A	G	7: 29,077,066 (GRCm39)	V902A	probably damaging	Het
Slc37a3	T	G	6: 39,314,157 (GRCm39)	Q485P	probably benign	Het
Slc44a3	T	C	3: 121,320,723 (GRCm39)	T93A	possibly damaging	Het
Slc66a1	G	T	4: 139,027,312 (GRCm39)	H343Q	probably benign	Het
Sun3	G	A	11: 8,988,266 (GRCm39)	L19F	probably benign	Het
Tas2r125	A	G	6: 132,886,866 (GRCm39)	I85V	probably benign	Het
Tenm4	A	C	7: 96,423,253 (GRCm39)	K683Q	probably damaging	Het
Tmprss11d	C	T	5: 86,454,140 (GRCm39)	V222M	probably damaging	Het
Tnip1	A	C	11: 54,806,365 (GRCm39)	S570A	possibly damaging	Het
Top1mt	G	A	15: 75,529,552 (GRCm39)	P554S	probably damaging	Het
Top1mt	A	G	15: 75,547,880 (GRCm39)	F69L	possibly damaging	Het
Ttc7	A	G	17: 87,648,325 (GRCm39)	K508R	probably benign	Het
Ttll4	A	T	1: 74,718,166 (GRCm39)	T6S	possibly damaging	Het
Xpo5	T	C	17: 46,533,643 (GRCm39)	Y500H	possibly damaging	Het
Xpot	C	T	10: 121,450,968 (GRCm39)		probably null	Het
Zbbx	T	C	3: 74,992,348 (GRCm39)	I268V	probably benign	Het
Zbtb40	G	A	4: 136,734,408 (GRCm39)	P360S	probably damaging	Het
Zfp324	T	C	7: 12,705,233 (GRCm39)	L474P	probably damaging	Het
Zfp398	A	G	6: 47,817,186 (GRCm39)	T9A	probably benign	Het
Zfp692	A	C	11: 58,200,997 (GRCm39)	S293R	probably null	Het

Other mutations in Kcnc1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01575:Kcnc1	APN	7	46,077,523 (GRCm39)	missense	possibly damaging	0.95
IGL01860:Kcnc1	APN	7	46,077,554 (GRCm39)	missense	probably damaging	1.00
IGL02075:Kcnc1	APN	7	46,077,397 (GRCm39)	missense	probably damaging	1.00
IGL02478:Kcnc1	APN	7	46,084,593 (GRCm39)	missense	probably benign	0.18
Evanescent	UTSW	7	46,077,383 (GRCm39)	missense	probably damaging	1.00
Subtilis	UTSW	7	46,077,245 (GRCm39)	missense	probably damaging	1.00
wispy	UTSW	7	46,076,821 (GRCm39)	missense	probably damaging	1.00
R1438:Kcnc1	UTSW	7	46,077,691 (GRCm39)	missense	possibly damaging	0.81
R1487:Kcnc1	UTSW	7	46,084,772 (GRCm39)	critical splice donor site	probably null
R1487:Kcnc1	UTSW	7	46,047,298 (GRCm39)	missense	possibly damaging	0.88
R1595:Kcnc1	UTSW	7	46,077,010 (GRCm39)	missense	probably benign	0.25
R2273:Kcnc1	UTSW	7	46,077,226 (GRCm39)	missense	probably damaging	1.00
R2345:Kcnc1	UTSW	7	46,047,370 (GRCm39)	missense	probably damaging	1.00
R4126:Kcnc1	UTSW	7	46,047,426 (GRCm39)	missense	probably damaging	0.98
R4387:Kcnc1	UTSW	7	46,047,126 (GRCm39)	missense	possibly damaging	0.89
R4388:Kcnc1	UTSW	7	46,047,126 (GRCm39)	missense	possibly damaging	0.89
R4508:Kcnc1	UTSW	7	46,077,712 (GRCm39)	missense	probably benign	0.15
R4688:Kcnc1	UTSW	7	46,047,259 (GRCm39)	missense	probably benign	0.01
R5293:Kcnc1	UTSW	7	46,047,235 (GRCm39)	missense	probably benign	0.01
R5993:Kcnc1	UTSW	7	46,076,956 (GRCm39)	missense	probably damaging	1.00
R6296:Kcnc1	UTSW	7	46,084,740 (GRCm39)	missense	probably benign	0.00
R6512:Kcnc1	UTSW	7	46,076,821 (GRCm39)	missense	probably damaging	1.00
R6678:Kcnc1	UTSW	7	46,047,229 (GRCm39)	missense	probably benign	0.30
R6801:Kcnc1	UTSW	7	46,084,716 (GRCm39)	missense	probably damaging	0.99
R7232:Kcnc1	UTSW	7	46,077,383 (GRCm39)	missense	probably damaging	1.00
R7886:Kcnc1	UTSW	7	46,077,045 (GRCm39)	missense	probably damaging	1.00
R7899:Kcnc1	UTSW	7	46,077,245 (GRCm39)	missense	probably damaging	1.00
R7998:Kcnc1	UTSW	7	46,047,223 (GRCm39)	missense	probably benign	0.01
R8990:Kcnc1	UTSW	7	46,077,733 (GRCm39)	makesense	probably null
R9347:Kcnc1	UTSW	7	46,077,034 (GRCm39)	missense	probably damaging	1.00
R9562:Kcnc1	UTSW	7	46,077,010 (GRCm39)	missense	probably benign	0.25
R9565:Kcnc1	UTSW	7	46,077,010 (GRCm39)	missense	probably benign	0.25
R9691:Kcnc1	UTSW	7	46,076,955 (GRCm39)	nonsense	probably null
X0022:Kcnc1	UTSW	7	46,084,664 (GRCm39)	missense	probably benign
X0054:Kcnc1	UTSW	7	46,047,316 (GRCm39)	missense	probably damaging	1.00
Y5406:Kcnc1	UTSW	7	46,076,803 (GRCm39)	missense	probably benign	0.00
Z1177:Kcnc1	UTSW	7	46,047,276 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TCCGCTGCATGGGAAACAAG -3'
(R):5'- AAAAGCTACGTCCGTCTTAGTAC -3'

Sequencing Primer
(F):5'- CTGCATGGGAAACAAGCCAGC -3'
(R):5'- TTAGTACAATGCCTGGGCCAC -3'

Posted On

2015-12-29