Mutagenetix > Incidental Mutation

Incidental Mutation 'R5215:Kcng1'

403397

Institutional Source

Beutler Lab

Gene Symbol

Kcng1

Ensembl Gene

ENSMUSG00000074575

Gene Name

potassium voltage-gated channel, subfamily G, member 1

Synonyms

OTTMUSG00000016048

MMRRC Submission

042788-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.132) question?

Stock #

R5215 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

168102037-168123453 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 168105053 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Isoleucine at position 264 (M264I)

Ref Sequence

ENSEMBL: ENSMUSP00000104815 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000099069] [ENSMUST00000109191]

AlphaFold

A2BDX4

Predicted Effect

probably benign
Transcript: ENSMUST00000099069
AA Change: M264I

PolyPhen 2 Score 0.198 (Sensitivity: 0.92; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000096668
Gene: ENSMUSG00000074575
AA Change: M264I

Domain	Start	End	E-Value	Type
BTB	63	172	4.22e-5	SMART
low complexity region	174	197	N/A	INTRINSIC
Pfam:Ion_trans	226	470	8.6e-41	PFAM
Pfam:Ion_trans_2	379	465	7.6e-16	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000109191
AA Change: M264I

PolyPhen 2 Score 0.198 (Sensitivity: 0.92; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000104815
Gene: ENSMUSG00000074575
AA Change: M264I

Domain	Start	End	E-Value	Type
BTB	63	172	4.22e-5	SMART
low complexity region	174	197	N/A	INTRINSIC
Pfam:Ion_trans	270	459	1.9e-31	PFAM
Pfam:Ion_trans_2	379	465	1e-15	PFAM

Meta Mutation Damage Score

0.0944

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.5%
20x: 95.8%

Validation Efficiency

100% (79/79)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Voltage-gated potassium (Kv) channels represent the most complex class of voltage-gated ion channels from both functional and structural standpoints. Their diverse functions include regulating neurotransmitter release, heart rate, insulin secretion, neuronal excitability, epithelial electrolyte transport, smooth muscle contraction, and cell volume. This gene encodes a member of the potassium channel, voltage-gated, subfamily G. This gene is abundantly expressed in skeletal muscle. Multiple alternatively spliced transcript variants have been found in normal and cancerous tissues. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Alas1	C	A	9: 106,120,574 (GRCm39)	A73S	probably benign	Het
Aldoart2	G	A	12: 55,612,204 (GRCm39)	R43Q	probably benign	Het
Ano4	T	C	10: 89,153,165 (GRCm39)	H49R	possibly damaging	Het
Atic	T	C	1: 71,603,666 (GRCm39)	S161P	probably damaging	Het
Atp6v1c2	T	C	12: 17,341,659 (GRCm39)	E244G	probably benign	Het
Cd164l2	C	A	4: 132,948,789 (GRCm39)	L42I	unknown	Het
Cdc42ep2	T	C	19: 5,968,238 (GRCm39)	R156G	probably benign	Het
Cdc45	C	T	16: 18,614,647 (GRCm39)	R205H	probably damaging	Het
Cdk5	T	A	5: 24,624,459 (GRCm39)	N265I	probably benign	Het
Cfap69	G	T	5: 5,639,133 (GRCm39)	N262K	possibly damaging	Het
Chd6	C	T	2: 160,791,873 (GRCm39)	V2495M	probably damaging	Het
Cps1	T	A	1: 67,205,539 (GRCm39)	F521I	possibly damaging	Het
Crb2	A	G	2: 37,683,765 (GRCm39)	E1089G	probably benign	Het
Decr1	T	C	4: 15,929,795 (GRCm39)	D166G	probably damaging	Het
Dhodh	G	A	8: 110,332,975 (GRCm39)		probably benign	Het
Dnaaf5	G	A	5: 139,147,632 (GRCm39)	V399I	probably benign	Het
Dnah11	T	C	12: 118,121,096 (GRCm39)	T526A	probably benign	Het
Drosha	T	C	15: 12,885,219 (GRCm39)		probably benign	Het
Elfn2	T	A	15: 78,558,401 (GRCm39)	I49F	probably damaging	Het
Gabra1	T	C	11: 42,045,655 (GRCm39)	T152A	probably damaging	Het
Gigyf2	C	A	1: 87,292,988 (GRCm39)	T85K	probably damaging	Het
Gimap8	A	T	6: 48,628,017 (GRCm39)	Y258F	possibly damaging	Het
Glmn	A	G	5: 107,709,752 (GRCm39)	C351R	probably benign	Het
Gm10032	T	C	14: 67,029,998 (GRCm39)		noncoding transcript	Het
Gorasp2	G	A	2: 70,519,598 (GRCm39)	A328T	probably benign	Het
Grin1	A	T	2: 25,193,919 (GRCm39)	H392Q	probably benign	Het
Gzmn	A	G	14: 56,405,319 (GRCm39)	V55A	probably damaging	Het
Herc4	T	A	10: 63,124,876 (GRCm39)	S497T	probably benign	Het
Hrc	A	T	7: 44,985,515 (GRCm39)	D222V	probably damaging	Het
Iars2	T	C	1: 185,026,966 (GRCm39)	H761R	probably damaging	Het
Jmjd1c	T	A	10: 67,076,480 (GRCm39)	D2101E	possibly damaging	Het
Klra14-ps	C	A	6: 130,134,646 (GRCm39)		noncoding transcript	Het
Krtap5-3	T	A	7: 141,755,974 (GRCm39)	C270*	probably null	Het
Lama3	A	G	18: 12,710,957 (GRCm39)	H3164R	probably damaging	Het
Lcor	T	C	19: 41,574,371 (GRCm39)	I1042T	probably damaging	Het
Mdn1	T	C	4: 32,741,418 (GRCm39)	M3840T	possibly damaging	Het
Mtor	A	T	4: 148,538,440 (GRCm39)	H166L	probably benign	Het
Mx1	T	C	16: 97,249,560 (GRCm39)	N556D	possibly damaging	Het
Oca2	A	T	7: 55,945,246 (GRCm39)	R285*	probably null	Het
Or12d13	T	A	17: 37,647,704 (GRCm39)	I140F	probably benign	Het
Or2at1	A	G	7: 99,416,717 (GRCm39)	E116G	probably damaging	Het
Or4k39	T	C	2: 111,239,631 (GRCm39)		noncoding transcript	Het
Or56a3b	G	A	7: 104,775,771 (GRCm39)	H246Y	probably damaging	Het
Or8g33	A	T	9: 39,337,919 (GRCm39)	Y149*	probably null	Het
Pan3	A	G	5: 147,391,915 (GRCm39)		probably null	Het
Pard3	G	A	8: 128,104,745 (GRCm39)	V496M	probably damaging	Het
Pdcd2l	A	T	7: 33,892,314 (GRCm39)	V185D	possibly damaging	Het
Pgghg	T	C	7: 140,526,477 (GRCm39)	V623A	possibly damaging	Het
Pigu	C	A	2: 155,177,249 (GRCm39)		probably benign	Het
Pkmyt1	G	A	17: 23,951,566 (GRCm39)	R40Q	probably benign	Het
Prag1	G	A	8: 36,567,043 (GRCm39)	A65T	probably benign	Het
Prkdc	C	A	16: 15,589,985 (GRCm39)	T2616N	possibly damaging	Het
Prpf8	G	A	11: 75,391,030 (GRCm39)	E1360K	probably benign	Het
Ptprt	C	T	2: 162,120,084 (GRCm39)	V128M	probably damaging	Het
Rp1l1	C	T	14: 64,267,462 (GRCm39)	S1016L	probably benign	Het
Rprd1a	G	T	18: 24,621,257 (GRCm39)	D307E	probably damaging	Het
Slc11a1	A	T	1: 74,422,936 (GRCm39)		probably benign	Het
Slc22a16	T	A	10: 40,457,386 (GRCm39)	M209K	probably damaging	Het
Slf2	T	G	19: 44,936,476 (GRCm39)	L707R	probably damaging	Het
Son	T	A	16: 91,453,563 (GRCm39)	M770K	probably damaging	Het
Taf6l	T	C	19: 8,755,417 (GRCm39)		probably benign	Het
Tbc1d2	C	A	4: 46,614,006 (GRCm39)	V692L	probably benign	Het
Tnpo3	C	T	6: 29,582,152 (GRCm39)		probably benign	Het
Txndc16	A	T	14: 45,448,597 (GRCm39)		probably benign	Het
Ubr1	T	C	2: 120,734,525 (GRCm39)	K1125R	probably benign	Het
Vmn2r9	A	G	5: 108,994,351 (GRCm39)	S433P	probably benign	Het
Zc3h12a	A	G	4: 125,020,706 (GRCm39)	S46P	probably benign	Het
Zwilch	T	G	9: 64,054,156 (GRCm39)	I490L	probably benign	Het

Other mutations in Kcng1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00091:Kcng1	APN	2	168,110,684 (GRCm39)	missense	probably benign
IGL01316:Kcng1	APN	2	168,110,960 (GRCm39)	missense	probably damaging	1.00
PIT4378001:Kcng1	UTSW	2	168,104,604 (GRCm39)	missense	probably damaging	0.98
R0104:Kcng1	UTSW	2	168,110,966 (GRCm39)	missense	probably damaging	1.00
R0692:Kcng1	UTSW	2	168,104,683 (GRCm39)	missense	probably damaging	0.99
R1574:Kcng1	UTSW	2	168,110,961 (GRCm39)	missense	probably damaging	1.00
R1574:Kcng1	UTSW	2	168,110,961 (GRCm39)	missense	probably damaging	1.00
R1591:Kcng1	UTSW	2	168,110,630 (GRCm39)	missense	possibly damaging	0.76
R1731:Kcng1	UTSW	2	168,110,609 (GRCm39)	missense	probably benign	0.00
R1937:Kcng1	UTSW	2	168,104,941 (GRCm39)	missense	probably benign	0.02
R1960:Kcng1	UTSW	2	168,104,904 (GRCm39)	missense	probably benign	0.03
R2145:Kcng1	UTSW	2	168,110,952 (GRCm39)	missense	probably damaging	1.00
R4167:Kcng1	UTSW	2	168,104,617 (GRCm39)	missense	probably damaging	1.00
R5816:Kcng1	UTSW	2	168,110,643 (GRCm39)	missense	possibly damaging	0.90
R6367:Kcng1	UTSW	2	168,104,572 (GRCm39)	missense	probably damaging	1.00
R7058:Kcng1	UTSW	2	168,104,529 (GRCm39)	missense	probably damaging	1.00
R7920:Kcng1	UTSW	2	168,104,904 (GRCm39)	missense	probably benign	0.03
R7984:Kcng1	UTSW	2	168,104,406 (GRCm39)	missense	possibly damaging	0.93
R8494:Kcng1	UTSW	2	168,105,018 (GRCm39)	missense	probably damaging	1.00
R8994:Kcng1	UTSW	2	168,110,768 (GRCm39)	missense	probably benign	0.10
R9111:Kcng1	UTSW	2	168,104,535 (GRCm39)	missense	probably damaging	1.00
R9178:Kcng1	UTSW	2	168,111,105 (GRCm39)	missense	possibly damaging	0.93
R9507:Kcng1	UTSW	2	168,111,152 (GRCm39)	missense	probably damaging	0.96
R9562:Kcng1	UTSW	2	168,104,797 (GRCm39)	missense	probably damaging	1.00
X0063:Kcng1	UTSW	2	168,110,993 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- CTTGTCCAGGTAGCTGTTGC -3'
(R):5'- CTGGGTTAAAGCGGAAGTTG -3'

Sequencing Primer
(F):5'- AGCTGTTGCCGGTGCTC -3'
(R):5'- TTGAGAGAACAGGAGCTTGG -3'

Posted On

2016-07-22