Mutagenetix > Incidental Mutation

Incidental Mutation 'R5137:Kcng4'

396213

Institutional Source

Beutler Lab

Gene Symbol

Kcng4

Ensembl Gene

ENSMUSG00000045246

Gene Name

potassium voltage-gated channel, subfamily G, member 4

Synonyms

4921535I01Rik, KV6.3, KV6.4

MMRRC Submission

042723-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5137 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

120350593-120362419 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 120352617 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 431 (M431K)

Ref Sequence

ENSEMBL: ENSMUSP00000129687 (fasta)

Gene Model

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

AlphaFold

Q80XM3

Predicted Effect

possibly damaging
Transcript: ENSMUST00000061828
AA Change: M431K

PolyPhen 2 Score 0.881 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000056552
Gene: ENSMUSG00000045246
AA Change: M431K

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

possibly damaging
Transcript: ENSMUST00000164382
AA Change: M431K

PolyPhen 2 Score 0.881 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000129687
Gene: ENSMUSG00000045246
AA Change: M431K

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

1x: 99.3%
3x: 98.6%
10x: 97.2%
20x: 94.8%

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: 79 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acad9	T	C	3: 36,123,920 (GRCm39)	V75A	probably benign	Het
Ace	G	C	11: 105,865,652 (GRCm39)	W628C	probably damaging	Het
Adh4	T	C	3: 138,127,996 (GRCm39)	S141P	probably benign	Het
Apob	T	C	12: 8,061,384 (GRCm39)	Y3256H	possibly damaging	Het
B3galnt1	G	T	3: 69,482,282 (GRCm39)	N326K	probably benign	Het
Bltp3a	T	G	17: 28,095,964 (GRCm39)		probably null	Het
Catsperb	T	C	12: 101,516,070 (GRCm39)	F569L	probably damaging	Het
Cecr2	A	G	6: 120,732,478 (GRCm39)	I225V	probably benign	Het
Cox5b	A	G	1: 36,731,510 (GRCm39)		probably null	Het
Crybg1	T	C	10: 43,834,332 (GRCm39)	D1953G	probably damaging	Het
Dnaaf5	C	T	5: 139,167,215 (GRCm39)	T707M	probably damaging	Het
Dnase1l1	C	T	X: 73,320,644 (GRCm39)		probably null	Het
Ebf1	G	A	11: 44,882,295 (GRCm39)	R409Q	probably damaging	Het
Eef2k	G	A	7: 120,484,645 (GRCm39)	A256T	probably damaging	Het
Eef2k	C	A	7: 120,484,646 (GRCm39)	A256D	probably damaging	Het
Evl	C	G	12: 108,647,781 (GRCm39)	T294S	probably benign	Het
Eya2	T	C	2: 165,573,548 (GRCm39)	Y288H	probably damaging	Het
Ezh2	A	T	6: 47,509,014 (GRCm39)		probably null	Het
Fam171a1	T	C	2: 3,226,426 (GRCm39)	Y395H	probably benign	Het
Gas2l3	C	A	10: 89,249,837 (GRCm39)	R427L	probably damaging	Het
Gli2	T	A	1: 118,783,233 (GRCm39)	I91F	probably damaging	Het
Gm4884	T	C	7: 40,692,318 (GRCm39)	S96P	probably damaging	Het
Gprc5d	T	A	6: 135,093,031 (GRCm39)	D292V	probably benign	Het
Herc1	A	G	9: 66,355,505 (GRCm39)	K2252R	probably benign	Het
Il1rl1	A	T	1: 40,489,285 (GRCm39)	M346L	probably benign	Het
Kcna5	A	T	6: 126,510,946 (GRCm39)	V394D	probably damaging	Het
Kifbp	A	T	10: 62,414,020 (GRCm39)	V46E	probably damaging	Het
Large1	A	G	8: 73,774,937 (GRCm39)	F258L	possibly damaging	Het
Mapkbp1	T	A	2: 119,852,662 (GRCm39)	C1001S	probably damaging	Het
Micu1	A	G	10: 59,663,054 (GRCm39)	Q328R	probably benign	Het
Mmp11	G	A	10: 75,761,290 (GRCm39)	P437S	probably damaging	Het
Msh6	T	A	17: 88,287,716 (GRCm39)	F119I	possibly damaging	Het
Myo6	A	G	9: 80,149,531 (GRCm39)	E159G	probably damaging	Het
Negr1	T	A	3: 156,721,833 (GRCm39)	Y136N	probably damaging	Het
Nol9	T	A	4: 152,130,428 (GRCm39)	C321S	probably damaging	Het
Nos1	T	C	5: 118,043,378 (GRCm39)	F551S	probably benign	Het
Nup153	C	A	13: 46,837,629 (GRCm39)	G1198C	probably damaging	Het
Omd	T	C	13: 49,743,552 (GRCm39)	S201P	probably benign	Het
Or1e16	AGCGGTCGTAGGC	AGC	11: 73,286,480 (GRCm39)		probably null	Het
Or1e35	T	C	11: 73,797,452 (GRCm39)	I289V	probably damaging	Het
Or4c120	C	A	2: 89,000,744 (GRCm39)	V271F	probably benign	Het
Or51l14	A	G	7: 103,100,919 (GRCm39)	Y125C	probably damaging	Het
Or51l14	C	A	7: 103,100,920 (GRCm39)	Y125*	probably null	Het
Oxct1	G	T	15: 4,064,832 (GRCm39)	A57S	probably benign	Het
Pcdhga7	T	G	18: 37,850,433 (GRCm39)	S813R	probably damaging	Het
Pcmtd2	A	T	2: 181,496,787 (GRCm39)	I255F	possibly damaging	Het
Pdk1	T	G	2: 71,713,913 (GRCm39)	M186R	possibly damaging	Het
Pelp1	T	C	11: 70,285,925 (GRCm39)	T648A	probably damaging	Het
Phldb2	A	T	16: 45,628,621 (GRCm39)	S570R	possibly damaging	Het
Pramel16	T	A	4: 143,675,690 (GRCm39)	T379S	probably benign	Het
Ptprj	T	C	2: 90,299,992 (GRCm39)	T270A	possibly damaging	Het
Reln	C	T	5: 22,160,179 (GRCm39)	G2130D	probably damaging	Het
Rims1	A	T	1: 22,358,844 (GRCm39)	Y663*	probably null	Het
Rit2	T	C	18: 31,286,817 (GRCm39)	T123A	probably benign	Het
Rmdn2	A	T	17: 79,975,418 (GRCm39)	E302D	probably benign	Het
Ryr1	T	C	7: 28,801,283 (GRCm39)	E827G	possibly damaging	Het
Siglec1	C	T	2: 130,923,264 (GRCm39)	G494R	probably damaging	Het
Slc16a14	T	A	1: 84,890,318 (GRCm39)	Y329F	probably damaging	Het
Slc35d1	A	T	4: 103,071,978 (GRCm39)	L8Q	possibly damaging	Het
Smpdl3a	C	T	10: 57,677,163 (GRCm39)	S57L	possibly damaging	Het
Snx9	T	C	17: 5,978,528 (GRCm39)	V566A	probably damaging	Het
Spaca1	A	T	4: 34,029,095 (GRCm39)	I126N	probably damaging	Het
Spred1	T	G	2: 116,994,052 (GRCm39)	I94S	probably damaging	Het
Tardbp	T	C	4: 148,706,494 (GRCm39)	D105G	possibly damaging	Het
Tet2	T	C	3: 133,182,326 (GRCm39)	S1213G	probably benign	Het
Trak1	A	T	9: 121,196,121 (GRCm39)		probably benign	Het
Trem3	G	A	17: 48,556,756 (GRCm39)	V76M	possibly damaging	Het
Ttc13	G	T	8: 125,421,674 (GRCm39)	Y250*	probably null	Het
Ttll5	T	G	12: 85,969,819 (GRCm39)	S714R	possibly damaging	Het
Ube2l6	T	G	2: 84,633,220 (GRCm39)		probably null	Het
Ubr3	T	C	2: 69,803,679 (GRCm39)	S1090P	probably damaging	Het
Vezt	T	C	10: 93,806,372 (GRCm39)	T680A	probably benign	Het
Virma	A	G	4: 11,546,297 (GRCm39)	K1762E	probably damaging	Het
Vps53	A	G	11: 76,057,074 (GRCm39)	S57P	probably damaging	Het
Vwa7	G	T	17: 35,236,822 (GRCm39)	D130Y	probably damaging	Het
Vwa8	T	G	14: 79,302,342 (GRCm39)	F1004V	probably damaging	Het
Zfp35	A	T	18: 24,137,194 (GRCm39)	K513*	probably null	Het
Zfp384	ACAGCAGCAGCAGCAGCAGCAGC	ACAGCAGCAGCAGCAGCAGC	6: 125,013,472 (GRCm39)		probably benign	Het
Zfp521	C	A	18: 13,978,505 (GRCm39)	C636F	probably 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
IGL02892:Kcng4	APN	8	120,359,821 (GRCm39)	missense	probably benign
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
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

Predicted Primers

PCR Primer
(F):5'- TGGGAGTTACATGTAGCGGC -3'
(R):5'- AGAGTTTGGTCTCCTGATGC -3'

Sequencing Primer
(F):5'- GATCATCTACGTCACTCAGGAG -3'
(R):5'- AGAGTTTGGTCTCCTGATGCTCTTC -3'

Posted On

2016-06-21