Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02892:Kcng4'

363253

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Kcng4

Ensembl Gene

ENSMUSG00000045246

Gene Name

potassium voltage-gated channel, subfamily G, member 4

Synonyms

4921535I01Rik, KV6.3, KV6.4

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02892

Quality Score

Status

Chromosome

Chromosomal Location

120350593-120362419 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 120359821 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Arginine at position 185 (Q185R)

Ref Sequence

ENSEMBL: ENSMUSP00000129687 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000061828] [ENSMUST00000164382]

AlphaFold

Q80XM3

Predicted Effect

probably benign
Transcript: ENSMUST00000061828
AA Change: Q185R

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000056552
Gene: ENSMUSG00000045246
AA Change: Q185R

Domain	Start	End	E-Value	Type
BTB	58	168	7.13e-3	SMART
Pfam:Ion_trans	218	462	1.2e-40	PFAM
Pfam:Ion_trans_2	370	457	7e-14	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000164382
AA Change: Q185R

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000129687
Gene: ENSMUSG00000045246
AA Change: Q185R

Domain	Start	End	E-Value	Type
BTB	58	168	7.13e-3	SMART
Pfam:Ion_trans	262	451	6.6e-29	PFAM
Pfam:Ion_trans_2	371	457	1.7e-13	PFAM

Coding Region Coverage

Validation Efficiency

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 member functions as a modulatory subunit. The gene has strong expression in brain. Multiple alternatively spliced variants have been found in normal and cancerous tissues. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcd4	A	T	12: 84,651,771 (GRCm39)	L493*	probably null	Het
Adam32	T	A	8: 25,368,727 (GRCm39)		probably benign	Het
Alpk1	T	C	3: 127,473,771 (GRCm39)	D744G	possibly damaging	Het
Arhgef12	A	G	9: 42,912,268 (GRCm39)	V530A	possibly damaging	Het
Baz2b	A	T	2: 59,731,080 (GRCm39)	N2095K	probably damaging	Het
Btnl2	A	T	17: 34,581,642 (GRCm39)	Q240L	possibly damaging	Het
Cd96	T	C	16: 45,870,160 (GRCm39)		probably null	Het
Cep350	G	A	1: 155,744,552 (GRCm39)	T2089I	possibly damaging	Het
Chd9	T	C	8: 91,703,543 (GRCm39)		probably benign	Het
Cib4	C	T	5: 30,702,051 (GRCm39)		probably benign	Het
Cilp2	T	C	8: 70,336,970 (GRCm39)	T280A	probably benign	Het
Coq5	T	A	5: 115,432,876 (GRCm39)		probably benign	Het
Cyth3	A	G	5: 143,693,192 (GRCm39)	I339V	possibly damaging	Het
Dcaf7	T	C	11: 105,937,518 (GRCm39)	V47A	possibly damaging	Het
Dcdc2c	A	G	12: 28,585,544 (GRCm39)	I151T	probably benign	Het
Defb7	T	A	8: 19,547,678 (GRCm39)	F61Y	probably benign	Het
Diaph3	T	A	14: 87,104,066 (GRCm39)	K773*	probably null	Het
Dmxl1	A	G	18: 49,992,187 (GRCm39)	N311S	probably damaging	Het
Dnah7b	G	A	1: 46,158,458 (GRCm39)	R347H	possibly damaging	Het
Egflam	C	T	15: 7,319,277 (GRCm39)	V234I	probably benign	Het
Emilin3	C	T	2: 160,751,069 (GRCm39)	V180M	possibly damaging	Het
Fam76b	A	T	9: 13,740,117 (GRCm39)	E50V	probably null	Het
Fat3	A	T	9: 16,288,858 (GRCm39)	Y222N	probably damaging	Het
Grm7	A	G	6: 111,230,981 (GRCm39)	N468S	probably damaging	Het
Gucy1a2	G	T	9: 3,634,471 (GRCm39)	G172C	probably damaging	Het
Hmcn1	A	C	1: 150,551,725 (GRCm39)		probably null	Het
Hydin	G	A	8: 111,325,591 (GRCm39)	V4667M	possibly damaging	Het
Idh2	T	C	7: 79,745,418 (GRCm39)	S408G	probably benign	Het
Lamp3	A	G	16: 19,494,802 (GRCm39)	V301A	probably damaging	Het
Lrrc23	T	C	6: 124,751,399 (GRCm39)	N220S	probably benign	Het
Lrrc41	T	A	4: 115,946,032 (GRCm39)	M249K	possibly damaging	Het
Ltbp4	T	A	7: 27,010,074 (GRCm39)	D1162V	probably damaging	Het
Mlh1	T	C	9: 111,082,037 (GRCm39)	I229V	probably benign	Het
Or1o11	T	C	17: 37,756,925 (GRCm39)	L160P	probably damaging	Het
Pgap6	A	G	17: 26,338,094 (GRCm39)	Y466C	probably damaging	Het
Plekhg2	T	A	7: 28,062,342 (GRCm39)	D525V	probably damaging	Het
Plin4	T	C	17: 56,412,108 (GRCm39)	K641R	probably damaging	Het
Plxnb2	A	G	15: 89,045,425 (GRCm39)		probably null	Het
Polr1a	T	C	6: 71,908,680 (GRCm39)	S502P	possibly damaging	Het
Prss16	A	G	13: 22,187,220 (GRCm39)	V450A	probably benign	Het
Prss42	G	A	9: 110,628,458 (GRCm39)	V201M	probably damaging	Het
Pus7	A	T	5: 23,959,554 (GRCm39)	N322K	probably damaging	Het
Riok1	G	T	13: 38,224,041 (GRCm39)		probably benign	Het
Rmdn3	T	A	2: 118,984,561 (GRCm39)	T64S	probably benign	Het
Rmnd5a	T	A	6: 71,391,798 (GRCm39)	M131L	probably benign	Het
Rtbdn	C	T	8: 85,681,718 (GRCm39)	R170C	probably damaging	Het
Sesn3	T	C	9: 14,226,030 (GRCm39)		probably null	Het
Slc2a6	A	G	2: 26,914,305 (GRCm39)	Y271H	probably benign	Het
Slc5a5	T	G	8: 71,345,161 (GRCm39)	T49P	probably damaging	Het
Slc7a10	T	C	7: 34,894,593 (GRCm39)	V84A	possibly damaging	Het
Slc9a4	A	G	1: 40,623,204 (GRCm39)	T148A	possibly damaging	Het
Smg1	T	A	7: 117,767,178 (GRCm39)		probably benign	Het
Snx19	T	A	9: 30,339,660 (GRCm39)	V266E	probably damaging	Het
Synm	T	A	7: 67,384,804 (GRCm39)	I511F	probably damaging	Het
Tango6	T	A	8: 107,468,642 (GRCm39)		probably benign	Het
Tie1	T	A	4: 118,343,479 (GRCm39)	D128V	probably damaging	Het
Timeless	T	C	10: 128,080,120 (GRCm39)	L423P	probably damaging	Het
Tln1	A	G	4: 43,555,679 (GRCm39)	L145P	probably damaging	Het
Trp53i13	A	T	11: 77,399,121 (GRCm39)	D376E	probably damaging	Het
Ubr4	A	T	4: 139,144,642 (GRCm39)	I1484F	probably damaging	Het
Unc13a	C	T	8: 72,102,554 (GRCm39)	V943M	probably damaging	Het
Usp50	T	C	2: 126,611,822 (GRCm39)	K301R	probably damaging	Het
Vmn1r62	G	T	7: 5,679,202 (GRCm39)	M294I	probably benign	Het
Vps39	A	G	2: 120,153,652 (GRCm39)		probably benign	Het
Vwa8	T	A	14: 79,341,140 (GRCm39)		probably benign	Het
Wdr27	A	T	17: 15,096,438 (GRCm39)	W748R	possibly damaging	Het

Other mutations in Kcng4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00569:Kcng4	APN	8	120,353,070 (GRCm39)	missense	probably benign	0.00
IGL01360:Kcng4	APN	8	120,352,416 (GRCm39)	missense	probably benign	0.40
IGL02094:Kcng4	APN	8	120,359,960 (GRCm39)	missense	probably damaging	0.98
IGL02205:Kcng4	APN	8	120,352,822 (GRCm39)	missense	probably damaging	0.99
IGL02927:Kcng4	APN	8	120,353,061 (GRCm39)	missense	probably benign
IGL02954:Kcng4	APN	8	120,359,792 (GRCm39)	missense	probably benign
IGL03143:Kcng4	APN	8	120,352,509 (GRCm39)	missense	probably damaging	1.00
FR4449:Kcng4	UTSW	8	120,360,258 (GRCm39)	nonsense	probably null
FR4548:Kcng4	UTSW	8	120,360,258 (GRCm39)	nonsense	probably null
FR4737:Kcng4	UTSW	8	120,360,258 (GRCm39)	nonsense	probably null
FR4976:Kcng4	UTSW	8	120,360,258 (GRCm39)	nonsense	probably null
LCD18:Kcng4	UTSW	8	120,360,258 (GRCm39)	nonsense	probably null
R0017:Kcng4	UTSW	8	120,360,259 (GRCm39)	missense	probably damaging	1.00
R1777:Kcng4	UTSW	8	120,360,226 (GRCm39)	missense	probably benign	0.02
R1852:Kcng4	UTSW	8	120,352,947 (GRCm39)	missense	probably benign	0.01
R1967:Kcng4	UTSW	8	120,359,662 (GRCm39)	missense	probably damaging	1.00
R3886:Kcng4	UTSW	8	120,359,986 (GRCm39)	missense	probably benign	0.34
R4009:Kcng4	UTSW	8	120,352,824 (GRCm39)	missense	probably damaging	1.00
R5137:Kcng4	UTSW	8	120,352,617 (GRCm39)	missense	possibly damaging	0.88
R5792:Kcng4	UTSW	8	120,353,018 (GRCm39)	missense	probably damaging	1.00
R5987:Kcng4	UTSW	8	120,353,098 (GRCm39)	missense	probably damaging	1.00
R6339:Kcng4	UTSW	8	120,359,693 (GRCm39)	missense	probably damaging	1.00
R6379:Kcng4	UTSW	8	120,360,359 (GRCm39)	nonsense	probably null
R6430:Kcng4	UTSW	8	120,359,789 (GRCm39)	missense	probably damaging	0.96
R7847:Kcng4	UTSW	8	120,352,881 (GRCm39)	missense	probably damaging	1.00
R8784:Kcng4	UTSW	8	120,352,970 (GRCm39)	missense	probably benign	0.18
R8947:Kcng4	UTSW	8	120,352,452 (GRCm39)	missense	possibly damaging	0.78
R9517:Kcng4	UTSW	8	120,353,070 (GRCm39)	missense	probably benign	0.00
X0024:Kcng4	UTSW	8	120,360,106 (GRCm39)	missense	probably damaging	1.00

Posted On

2015-12-18