Mutagenetix > Incidental Mutation

Incidental Mutation 'R8994:Kcng1'

684580

Institutional Source

Beutler Lab

Gene Symbol

Kcng1

Ensembl Gene

ENSMUSG00000074575

Gene Name

potassium voltage-gated channel, subfamily G, member 1

Synonyms

OTTMUSG00000016048

MMRRC Submission

068825-MU

Accession Numbers

Essential gene?

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

Stock #

R8994 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

168102037-168123453 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 168110768 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Glutamine at position 132 (R132Q)

Ref Sequence

ENSEMBL: ENSMUSP00000096668 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000099069] [ENSMUST00000109191] [ENSMUST00000131749]

AlphaFold

A2BDX4

Predicted Effect

probably benign
Transcript: ENSMUST00000099069
AA Change: R132Q

PolyPhen 2 Score 0.105 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000096668
Gene: ENSMUSG00000074575
AA Change: R132Q

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: R132Q

PolyPhen 2 Score 0.105 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000104815
Gene: ENSMUSG00000074575
AA Change: R132Q

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

Predicted Effect

probably benign
Transcript: ENSMUST00000131749

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.2%
20x: 97.1%

Validation Efficiency

98% (52/53)

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: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc4	T	A	14: 118,771,556 (GRCm39)		probably null	Het
Adgrv1	GTT	GT	13: 81,553,457 (GRCm39)		probably null	Het
Ank2	A	T	3: 126,723,471 (GRCm39)	M952K	probably benign	Het
Ccser2	A	T	14: 36,662,076 (GRCm39)	N369K	probably benign	Het
Cd300e	A	T	11: 114,946,348 (GRCm39)	Y38N	probably damaging	Het
Crat	G	T	2: 30,297,887 (GRCm39)	F212L	probably damaging	Het
Dnah8	T	A	17: 31,009,807 (GRCm39)	S3733T	probably benign	Het
Fam135a	C	T	1: 24,067,621 (GRCm39)	D1083N	probably damaging	Het
Fam174a	C	A	1: 95,241,689 (GRCm39)	P50T	possibly damaging	Het
Fars2	T	A	13: 36,388,849 (GRCm39)	Y113N	probably damaging	Het
Fpr3	T	C	17: 18,191,341 (GRCm39)	I204T	possibly damaging	Het
Frmd3	T	C	4: 74,088,985 (GRCm39)	V394A	probably benign	Het
Garin5a	G	T	7: 44,146,342 (GRCm39)	R16L	probably benign	Het
Gpbp1	C	A	13: 111,603,384 (GRCm39)		probably null	Het
Hectd4	T	A	5: 121,441,629 (GRCm39)	F1197Y	probably benign	Het
Herc3	A	G	6: 58,851,328 (GRCm39)	T526A	probably benign	Het
Hnrnpul2	T	C	19: 8,802,350 (GRCm39)	C406R	probably damaging	Het
Hsd17b3	T	C	13: 64,210,695 (GRCm39)	Q220R	probably damaging	Het
Igf2r	T	A	17: 12,935,537 (GRCm39)	Y651F	possibly damaging	Het
Kif1a	G	A	1: 92,983,457 (GRCm39)	S680F	possibly damaging	Het
Kif1b	T	C	4: 149,279,939 (GRCm39)	D27G		Het
Klk12	A	T	7: 43,421,485 (GRCm39)	T180S	probably damaging	Het
Klk1b27	A	G	7: 43,705,136 (GRCm39)	H101R	probably damaging	Het
Lrp6	C	A	6: 134,518,656 (GRCm39)	E136D	probably benign	Het
Mcm9	T	C	10: 53,424,620 (GRCm39)	I657V	probably benign	Het
Med13l	A	C	5: 118,866,226 (GRCm39)	K427Q	possibly damaging	Het
Nol10	A	T	12: 17,402,717 (GRCm39)	D63V	probably damaging	Het
Nudcd2	A	G	11: 40,624,862 (GRCm39)	T24A	probably damaging	Het
Nup155	T	C	15: 8,172,645 (GRCm39)		probably null	Het
Or10al7	T	C	17: 38,366,220 (GRCm39)	Y79C	possibly damaging	Het
Or10p1	A	T	10: 129,444,005 (GRCm39)	L115H	probably damaging	Het
Or51af1	A	T	7: 103,141,800 (GRCm39)	M95K	probably benign	Het
Or5p81	G	A	7: 108,267,169 (GRCm39)	C182Y	probably damaging	Het
Or8c19-ps1	A	T	9: 38,220,581 (GRCm39)	*163Y	probably null	Het
Piezo1	T	C	8: 123,209,829 (GRCm39)	D2314G	unknown	Het
Pkhd1l1	T	C	15: 44,410,499 (GRCm39)	F2669L	probably damaging	Het
Plpp4	A	G	7: 128,981,157 (GRCm39)	R178G	probably damaging	Het
Ppp1r13l	G	T	7: 19,102,695 (GRCm39)	A37S	possibly damaging	Het
Prl6a1	A	G	13: 27,499,417 (GRCm39)	T62A	probably benign	Het
Ranbp2	C	A	10: 58,315,891 (GRCm39)	Q2204K	possibly damaging	Het
Rbm48	T	A	5: 3,640,795 (GRCm39)	M195L	probably benign	Het
Rigi	C	A	4: 40,205,941 (GRCm39)	E884*	probably null	Het
Shank3	T	A	15: 89,417,416 (GRCm39)	F4L	probably benign	Het
Slain2	T	A	5: 73,114,984 (GRCm39)	V405D	probably damaging	Het
Slitrk5	A	C	14: 111,918,227 (GRCm39)	D617A	probably benign	Het
Sp140	T	A	1: 85,549,603 (GRCm39)		probably null	Het
Stk32a	A	G	18: 43,443,542 (GRCm39)	T240A	probably benign	Het
Timm21	T	C	18: 84,969,489 (GRCm39)		probably benign	Het
Tmem131	T	C	1: 36,854,538 (GRCm39)	S904G	probably benign	Het
Tmem86b	A	G	7: 4,632,706 (GRCm39)	C53R	unknown	Het
Wdr33	T	C	18: 31,960,459 (GRCm39)	L41P	probably benign	Het
Zfp112	A	C	7: 23,825,490 (GRCm39)	H490P	probably benign	Het
Zfp455	T	C	13: 67,355,478 (GRCm39)	Y184H	probably damaging	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
R5215:Kcng1	UTSW	2	168,105,053 (GRCm39)	missense	probably benign	0.20
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
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'- ACAGGCAGGCAAACACCTTG -3'
(R):5'- GTGGGTGGCATCAAGTACTC -3'

Sequencing Primer
(F):5'- GGACGGACCCTCACTCTCTTG -3'
(R):5'- TGGGTGGCATCAAGTACTCACTAC -3'

Posted On

2021-10-11