Mutagenetix > Incidental Mutation

Incidental Mutation 'R1487:Kcnc1'

163523

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

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.220) question?

Stock #

R1487 (G1)

Quality Score

132

Status

Not validated

Chromosome

Chromosomal Location

46045921-46088128 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 46047298 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Arginine at position 66 (H66R)

Ref Sequence

ENSEMBL: ENSMUSP00000124938 (fasta)

Gene Model

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

AlphaFold

P15388

Predicted Effect

possibly damaging
Transcript: ENSMUST00000025202
AA Change: H66R

PolyPhen 2 Score 0.885 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000025202
Gene: ENSMUSG00000058975
AA Change: H66R

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

possibly damaging
Transcript: ENSMUST00000160433
AA Change: H66R

PolyPhen 2 Score 0.885 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000124938
Gene: ENSMUSG00000058975
AA Change: H66R

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: 98.3%
10x: 96.4%
20x: 92.9%

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: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700034J05Rik	A	C	6: 146,854,877 (GRCm39)	V55G	probably benign	Het
Abhd13	A	G	8: 10,037,402 (GRCm39)		probably benign	Het
Arid5b	T	A	10: 67,933,044 (GRCm39)	K953*	probably null	Het
Armh3	A	C	19: 45,928,882 (GRCm39)		probably null	Het
B4galt6	A	G	18: 20,839,571 (GRCm39)	V121A	possibly damaging	Het
C1qtnf12	G	A	4: 156,050,331 (GRCm39)	E223K	probably damaging	Het
Calu	A	G	6: 29,366,955 (GRCm39)	I208V	probably benign	Het
Cd14	T	C	18: 36,858,537 (GRCm39)	N306S	probably benign	Het
Cdc16	T	A	8: 13,821,445 (GRCm39)	N415K	probably benign	Het
Cfap57	C	A	4: 118,471,978 (GRCm39)	V134F	probably benign	Het
Chrna2	C	T	14: 66,380,812 (GRCm39)	A27V	probably benign	Het
Chtf18	T	C	17: 25,939,583 (GRCm39)	K67R	probably benign	Het
Clock	T	C	5: 76,414,201 (GRCm39)		probably null	Het
Cplane1	C	T	15: 8,215,715 (GRCm39)	R424W	probably damaging	Het
Eif4g1	G	A	16: 20,497,623 (GRCm39)		probably benign	Het
Eps8l2	A	T	7: 140,941,531 (GRCm39)	M601L	probably benign	Het
Fat4	A	G	3: 39,050,066 (GRCm39)	E3976G	possibly damaging	Het
Flrt3	T	A	2: 140,502,854 (GRCm39)	H258L	probably damaging	Het
Flt4	C	A	11: 49,523,971 (GRCm39)	T517K	possibly damaging	Het
Galnt7	T	C	8: 57,993,073 (GRCm39)	N416S	probably damaging	Het
Gipc1	C	T	8: 84,387,808 (GRCm39)	Q63*	probably null	Het
Gm17079	A	T	14: 51,930,542 (GRCm39)		probably null	Het
Gucy2c	T	A	6: 136,725,824 (GRCm39)	I375F	possibly damaging	Het
Hps4	C	T	5: 112,525,865 (GRCm39)	Q629*	probably null	Het
Hunk	A	G	16: 90,183,525 (GRCm39)	Y61C	probably damaging	Het
Itga6	T	C	2: 71,673,584 (GRCm39)	S873P	possibly damaging	Het
Khdc3	A	G	9: 73,009,846 (GRCm39)	T19A	probably benign	Het
Kmt2a	T	C	9: 44,745,287 (GRCm39)		probably benign	Het
Lipe	C	T	7: 25,084,240 (GRCm39)	A615T	possibly damaging	Het
Lrguk	A	T	6: 34,039,295 (GRCm39)	M269L	probably benign	Het
Lrrc18	A	G	14: 32,730,640 (GRCm39)	N60D	probably damaging	Het
Magi1	T	C	6: 93,685,060 (GRCm39)	T773A	probably benign	Het
Map3k14	T	A	11: 103,116,163 (GRCm39)	D755V	possibly damaging	Het
Mecom	T	C	3: 30,034,213 (GRCm39)	T488A	probably damaging	Het
Mmp10	T	G	9: 7,509,978 (GRCm39)	W473G	probably damaging	Het
Mrgpra2a	C	T	7: 47,076,434 (GRCm39)	V275I	probably benign	Het
Myo7a	A	C	7: 97,703,017 (GRCm39)		probably null	Het
Nadsyn1	C	T	7: 143,360,662 (GRCm39)	V369I	probably benign	Het
Nptxr	C	A	15: 79,674,104 (GRCm39)	G424V	probably damaging	Het
Nrg2	C	T	18: 36,185,965 (GRCm39)	G258E	possibly damaging	Het
Nup210	G	A	6: 91,019,558 (GRCm39)	P221S	probably damaging	Het
Odad2	A	T	18: 7,273,245 (GRCm39)	Y282N	probably damaging	Het
Or52a33	T	A	7: 103,288,801 (GRCm39)	H182L	probably damaging	Het
Or6c208	T	C	10: 129,224,209 (GRCm39)	F236L	probably benign	Het
Oxct1	A	G	15: 4,177,057 (GRCm39)	D477G	possibly damaging	Het
Pcdh8	G	T	14: 80,006,987 (GRCm39)	D525E	probably damaging	Het
Phldb2	A	G	16: 45,609,387 (GRCm39)	S740P	probably damaging	Het
Prss54	A	G	8: 96,286,276 (GRCm39)	S266P	probably benign	Het
Ptprh	T	A	7: 4,555,737 (GRCm39)	I741F	probably damaging	Het
Rab11fip1	G	T	8: 27,644,240 (GRCm39)	S515Y	probably damaging	Het
Recql4	T	A	15: 76,593,183 (GRCm39)	N309I	probably benign	Het
Sec24a	T	C	11: 51,622,713 (GRCm39)	T388A	possibly damaging	Het
Setd6	T	A	8: 96,444,556 (GRCm39)	L83H	probably damaging	Het
Slc6a12	G	A	6: 121,340,716 (GRCm39)	W534*	probably null	Het
St14	C	T	9: 31,008,476 (GRCm39)	C488Y	probably damaging	Het
Supt16	A	G	14: 52,414,065 (GRCm39)		probably null	Het
Tanc2	A	G	11: 105,814,460 (GRCm39)	Y1968C	probably damaging	Het
Tcaim	T	A	9: 122,647,897 (GRCm39)	Y137*	probably null	Het
Tns2	C	T	15: 102,017,369 (GRCm39)	R281C	probably damaging	Het
Tpm3	A	T	3: 89,997,389 (GRCm39)		probably null	Het
Trip12	A	T	1: 84,746,352 (GRCm39)	N475K	probably damaging	Het
Twnk	G	T	19: 44,996,815 (GRCm39)		probably null	Het
Zfp287	T	C	11: 62,616,115 (GRCm39)	K192R	probably damaging	Het
Zfp799	G	T	17: 33,039,651 (GRCm39)	T204N	possibly damaging	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
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
R4784:Kcnc1	UTSW	7	46,086,711 (GRCm39)	missense	probably benign	0.00
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'- CCATTTTCCCGCTGAGATGATACCG -3'
(R):5'- AAAGCTGTCCAGCGCCTCCT -3'

Sequencing Primer
(F):5'- tccctccTCTCTTCCACTGC -3'
(R):5'- TCCTCAGCGTCTCGGTG -3'

Posted On

2014-03-28