Mutagenetix > Incidental Mutation

Incidental Mutation 'R6296:Kcnc1'

508766

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

044407-MU

Accession Numbers

Essential gene?

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

Stock #

R6296 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

46045921-46088128 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 46084740 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Threonine at position 555 (A555T)

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: A555T

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000124938
Gene: ENSMUSG00000058975
AA Change: A555T

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: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.6%

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: 82 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933427D14Rik	T	C	11: 72,086,580 (GRCm39)	K277R	probably damaging	Het
Aatf	T	C	11: 84,363,926 (GRCm39)	Y267C	probably benign	Het
Adcy5	A	G	16: 35,124,080 (GRCm39)	Y1253C	probably damaging	Het
Adgra3	G	A	5: 50,118,189 (GRCm39)	P1120S	probably benign	Het
Adm	A	G	7: 110,227,561 (GRCm39)	T26A	probably benign	Het
Ahnak	T	G	19: 8,980,669 (GRCm39)	V651G	probably damaging	Het
Akr7a5	G	A	4: 139,045,532 (GRCm39)	V358I	probably benign	Het
Ankar	T	G	1: 72,682,417 (GRCm39)	T1383P	probably damaging	Het
Bpifb6	G	C	2: 153,748,812 (GRCm39)	K269N	possibly damaging	Het
Cacna1c	T	C	6: 118,575,684 (GRCm39)	E1927G	possibly damaging	Het
Cacna1c	T	A	6: 118,629,675 (GRCm39)	T1249S	probably benign	Het
Cacna1h	G	A	17: 25,602,053 (GRCm39)	R1596C	probably damaging	Het
Cbll1	A	G	12: 31,537,507 (GRCm39)	V415A	probably benign	Het
Cd300lf	C	T	11: 115,015,195 (GRCm39)	V132I	probably benign	Het
Cfap54	T	C	10: 92,902,708 (GRCm39)	Y148C	probably damaging	Het
Coa5	A	G	1: 37,467,428 (GRCm39)	S60P	probably damaging	Het
Col6a2	T	C	10: 76,446,883 (GRCm39)	N342D	probably damaging	Het
Cyp2c29	T	G	19: 39,318,705 (GRCm39)	I434S	possibly damaging	Het
Ddx11	G	A	17: 66,457,724 (GRCm39)		probably null	Het
Dgke	C	T	11: 88,931,575 (GRCm39)	V560I	probably benign	Het
Dusp16	C	A	6: 134,697,456 (GRCm39)		probably null	Het
Enpp4	G	T	17: 44,413,371 (GRCm39)	N54K	probably benign	Het
Epn1	G	A	7: 5,093,122 (GRCm39)	A145T	probably damaging	Het
Erc2	A	T	14: 27,802,112 (GRCm39)	K764M	probably damaging	Het
Ercc6	G	T	14: 32,248,360 (GRCm39)	E304*	probably null	Het
Fam117a	T	A	11: 95,254,971 (GRCm39)	C115S	possibly damaging	Het
Galntl5	T	C	5: 25,391,163 (GRCm39)	S21P	probably benign	Het
Gm6358	T	C	16: 88,937,970 (GRCm39)	S70P	unknown	Het
Grip1	C	T	10: 119,911,369 (GRCm39)	Q696*	probably null	Het
Haus5	C	T	7: 30,358,401 (GRCm39)	W298*	probably null	Het
Hsfy2	T	A	1: 56,676,351 (GRCm39)	H62L	probably benign	Het
Ighm	T	C	12: 113,385,187 (GRCm39)	I258V	unknown	Het
Igkv13-71-1	G	T	6: 69,212,783 (GRCm39)		noncoding transcript	Het
Inava	C	T	1: 136,148,809 (GRCm39)		probably null	Het
Irx1	A	C	13: 72,107,787 (GRCm39)	S298R	probably damaging	Het
Jarid2	T	A	13: 45,056,539 (GRCm39)	Y443N	possibly damaging	Het
Krtap4-6	T	A	11: 99,556,245 (GRCm39)	R161*	probably null	Het
Lipo3	T	C	19: 33,757,737 (GRCm39)	D244G	probably benign	Het
Lmo2	T	G	2: 103,800,946 (GRCm39)	V39G	possibly damaging	Het
Lrch2	C	T	X: 146,263,553 (GRCm39)	A369T	probably damaging	Homo
Macf1	A	T	4: 123,326,668 (GRCm39)	I4943N	probably damaging	Het
Mkx	A	T	18: 7,000,591 (GRCm39)		probably null	Het
Nek1	C	T	8: 61,525,343 (GRCm39)	Q594*	probably null	Het
Nipbl	T	C	15: 8,330,379 (GRCm39)	M2349V	possibly damaging	Het
Nup155	T	A	15: 8,182,639 (GRCm39)	C1201S	probably damaging	Het
Or2y8	C	A	11: 52,035,423 (GRCm39)	R311S	probably benign	Het
Or4a76	G	A	2: 89,460,975 (GRCm39)	T89I	probably damaging	Het
Or5ac25	T	C	16: 59,181,769 (GRCm39)	K271E	probably benign	Het
Osbpl1a	A	G	18: 12,952,560 (GRCm39)		probably null	Het
Pbx1	T	C	1: 168,011,184 (GRCm39)	D372G	possibly damaging	Het
Pikfyve	T	A	1: 65,302,112 (GRCm39)	S1668T	probably damaging	Het
Pitpnc1	T	C	11: 107,117,092 (GRCm39)	H193R	probably damaging	Het
Plag1	G	T	4: 3,904,499 (GRCm39)	H231N	probably damaging	Het
Prmt8	A	G	6: 127,688,767 (GRCm39)	I201T	probably damaging	Het
Ptpn23	A	T	9: 110,222,894 (GRCm39)	N54K	probably damaging	Het
Rab11fip4	T	C	11: 79,581,655 (GRCm39)		probably null	Het
Rassf9	T	A	10: 102,381,614 (GRCm39)	I332N	probably damaging	Het
Rgs9	T	C	11: 109,159,813 (GRCm39)	N173S	probably benign	Het
Rhbdl1	A	G	17: 26,053,943 (GRCm39)	L309P	probably damaging	Het
Rnf214	A	G	9: 45,779,119 (GRCm39)	S389P	probably benign	Het
Rxfp1	A	C	3: 79,575,155 (GRCm39)	L181R	probably damaging	Het
Sfxn1	C	T	13: 54,247,899 (GRCm39)	T208I	probably benign	Het
Sgo2b	C	T	8: 64,380,827 (GRCm39)	M668I	probably benign	Het
Sh3bp4	C	A	1: 89,073,211 (GRCm39)	S686R	probably damaging	Het
Spata31d1d	G	A	13: 59,876,278 (GRCm39)	T419I	possibly damaging	Het
Spata31d1e	T	C	13: 59,890,497 (GRCm39)	D441G	probably benign	Het
Spink5	T	C	18: 44,147,824 (GRCm39)	S857P	probably damaging	Het
Stard13	A	T	5: 150,986,138 (GRCm39)	S339R	probably damaging	Het
Stk35	T	A	2: 129,652,808 (GRCm39)	Y436*	probably null	Het
Supt6	C	T	11: 78,116,885 (GRCm39)	R589Q	possibly damaging	Het
Tinag	T	A	9: 76,904,217 (GRCm39)	E402V	possibly damaging	Het
Tmem183a	T	C	1: 134,289,349 (GRCm39)	D27G	probably damaging	Het
Tnfrsf13c	T	C	15: 82,108,103 (GRCm39)	T56A	probably damaging	Het
Tnrc18	A	C	5: 142,719,331 (GRCm39)	L1985R	unknown	Het
Ttn	G	A	2: 76,579,673 (GRCm39)	T23740M	probably damaging	Het
Ufl1	G	T	4: 25,270,572 (GRCm39)	Q215K	probably benign	Het
Unkl	T	C	17: 25,450,839 (GRCm39)	*232R	probably null	Het
Wnk4	A	T	11: 101,164,824 (GRCm39)	N718Y	probably damaging	Het
Xkr4	T	C	1: 3,286,793 (GRCm39)	T466A	probably benign	Het
Zfp451	T	A	1: 33,808,898 (GRCm39)	K988*	probably null	Het
Zfp503	G	C	14: 22,035,868 (GRCm39)	Y349*	probably null	Het
Zfp990	T	A	4: 145,264,673 (GRCm39)	F557Y	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
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
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
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'- TTCGGTGTCTCAATAGCTTCTG -3'
(R):5'- CCCTTGGAGAAAGAACTCTGAC -3'

Sequencing Primer
(F):5'- GCTTCTGCTTATATGTTTGAAGATTC -3'
(R):5'- TGACTTCTAGAGGCGAATCTCCAG -3'

Posted On

2018-04-02