Mutagenetix > Incidental Mutations

Incidental Mutation 'R3907:Kcnj4'

310274

Institutional Source

Beutler Lab

Gene Symbol

Kcnj4

Ensembl Gene

ENSMUSG00000044216

Gene Name

potassium inwardly-rectifying channel, subfamily J, member 4

Synonyms

MB-IRK3, Kir 2.3, Kcnf2, IRK3

MMRRC Submission

040908-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.083) question?

Stock #

R3907 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

79483714-79505241 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 79485745 bp

Zygosity

Heterozygous

Amino Acid Change

Histidine to Glutamine at position 11 (H11Q)

Ref Sequence

ENSEMBL: ENSMUSP00000094075 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000057801]

Predicted Effect

probably benign
Transcript: ENSMUST00000057801
AA Change: H11Q

PolyPhen 2 Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000094075
Gene: ENSMUSG00000044216
AA Change: H11Q

Domain	Start	End	E-Value	Type
Pfam:IRK	22	361	2.1e-155	PFAM
coiled coil region	371	400	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000229365

Meta Mutation Damage Score

0.0698

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.5%
20x: 95.5%

Validation Efficiency

97% (56/58)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Several different potassium channels are known to be involved with electrical signaling in the nervous system. One class is activated by depolarization whereas a second class is not. The latter are referred to as inwardly rectifying K+ channels, and they have a greater tendency to allow potassium to flow into the cell rather than out of it. This asymmetry in potassium ion conductance plays a key role in the excitability of muscle cells and neurons. The protein encoded by this gene is an integral membrane protein and member of the inward rectifier potassium channel family. The encoded protein has a small unitary conductance compared to other members of this protein family. Two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930402H24Rik	C	T	2: 130,736,576	A663T	probably damaging	Het
Adamts3	C	A	5: 89,861,355	G150C	probably damaging	Het
Ampd3	A	G	7: 110,793,670	D215G	possibly damaging	Het
Ank2	A	G	3: 127,016,898	L513P	probably damaging	Het
Apba1	T	C	19: 23,937,506	I690T	probably damaging	Het
Arid1a	T	C	4: 133,692,912		probably benign	Het
Arsi	G	A	18: 60,916,651	G202E	probably benign	Het
Asns	C	T	6: 7,682,270		probably null	Het
Aspg	T	A	12: 112,112,259	Y57*	probably null	Het
Asph	T	C	4: 9,474,934	K680R	probably benign	Het
Atp2b4	A	T	1: 133,738,586	S243T	probably damaging	Het
Cacna1s	T	A	1: 136,084,269	M483K	probably damaging	Het
Car4	G	A	11: 84,964,357	V141M	probably damaging	Het
Cct4	A	G	11: 23,001,560	I376V	probably benign	Het
Chrm4	C	T	2: 91,927,739	A164V	probably damaging	Het
Csf3r	A	T	4: 126,034,447	D291V	probably benign	Het
Dcaf6	A	T	1: 165,424,380	C58*	probably null	Het
Ddi2	T	C	4: 141,684,281	D440G	probably benign	Het
Defb4	A	T	8: 19,201,261	Q48L	possibly damaging	Het
Duox2	C	T	2: 122,283,060		probably null	Het
E130308A19Rik	C	T	4: 59,752,393	T502I	probably benign	Het
Ephb1	A	G	9: 102,001,726	C522R	probably benign	Het
Fam76a	T	C	4: 132,916,121	K101E	probably damaging	Het
Fat1	G	C	8: 45,023,035	R1706T	probably benign	Het
Fn1	C	T	1: 71,607,913	G1482R	probably damaging	Het
Gm10110	T	C	14: 89,898,147		noncoding transcript	Het
Gphn	T	A	12: 78,493,942		probably benign	Het
Hars	A	T	18: 36,782,716	D48E	probably benign	Het
Hmgcll1	G	A	9: 76,072,661	R111H	probably benign	Het
Ighv3-4	A	G	12: 114,253,918	S18P	probably damaging	Het
Iws1	G	A	18: 32,079,920	E134K	possibly damaging	Het
Krt16	A	G	11: 100,247,163	V329A	possibly damaging	Het
Loxhd1	A	T	18: 77,408,768	M1575L	possibly damaging	Het
Mapkapk2	A	T	1: 131,056,914	S234T	probably damaging	Het
Mum1	T	C	10: 80,238,316	V401A	probably damaging	Het
Mxd1	G	T	6: 86,650,960	Q199K	probably benign	Het
Nlrp5	T	A	7: 23,433,646	D905E	possibly damaging	Het
Olfr1222	A	C	2: 89,125,583	Y49*	probably null	Het
Olfr5	A	T	7: 6,480,679	V159D	probably damaging	Het
Otoa	A	T	7: 121,125,565	Q489L	probably damaging	Het
Pced1b	T	C	15: 97,384,550	S157P	probably damaging	Het
Ppp1r16b	T	C	2: 158,761,490	I345T	probably benign	Het
Prrt4	G	T	6: 29,177,174	L199M	probably damaging	Het
Ptpn6	T	C	6: 124,725,276	D347G	possibly damaging	Het
Rcan1	A	G	16: 92,466,029		probably benign	Het
Rif1	C	T	2: 52,112,545	L2004F	probably benign	Het
Rnf185	A	G	11: 3,426,681		probably benign	Het
Shank2	C	T	7: 144,409,576	P307L	probably damaging	Het
Slc19a3	G	A	1: 83,014,813	R396C	possibly damaging	Het
Stn1	T	C	19: 47,507,823	D321G	probably damaging	Het
Taar7a	T	C	10: 23,992,559	Y308C	probably benign	Het
Tespa1	T	C	10: 130,356,797		probably benign	Het
Tmcc2	T	C	1: 132,360,638	D359G	probably damaging	Het
Trhde	C	T	10: 114,800,696	G202E	possibly damaging	Het
Trip12	T	C	1: 84,732,106	T469A	possibly damaging	Het
Trip4	A	G	9: 65,833,426	I533T	probably benign	Het
Tsc22d1	T	C	14: 76,416,543	I154T	probably damaging	Het
Ttn	C	A	2: 76,903,342		probably benign	Het
Ugt8a	T	C	3: 125,914,982	T160A	possibly damaging	Het
Usp54	A	T	14: 20,586,113	S288T	probably damaging	Het
Utrn	C	T	10: 12,710,182		probably benign	Het

Other mutations in Kcnj4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01070:Kcnj4	APN	15	79484579	missense	probably benign	0.01
IGL02263:Kcnj4	APN	15	79485787	utr 5 prime	probably benign
IGL02551:Kcnj4	APN	15	79484902	missense	probably benign	0.05
R1305:Kcnj4	UTSW	15	79484819	missense	probably damaging	1.00
R1464:Kcnj4	UTSW	15	79485404	missense	probably damaging	1.00
R1464:Kcnj4	UTSW	15	79485404	missense	probably damaging	1.00
R1475:Kcnj4	UTSW	15	79484630	missense	probably damaging	1.00
R1844:Kcnj4	UTSW	15	79485015	missense	probably damaging	1.00
R3906:Kcnj4	UTSW	15	79485745	missense	probably benign	0.01
R3908:Kcnj4	UTSW	15	79485745	missense	probably benign	0.01
R4396:Kcnj4	UTSW	15	79484673	missense	probably benign	0.06
R7598:Kcnj4	UTSW	15	79485764	missense	probably benign	0.00
R8059:Kcnj4	UTSW	15	79484802	missense	probably benign
R8371:Kcnj4	UTSW	15	79485141	missense	probably damaging	1.00
R8818:Kcnj4	UTSW	15	79485719	missense	probably damaging	1.00
X0062:Kcnj4	UTSW	15	79485690	missense	probably benign	0.06
Z1177:Kcnj4	UTSW	15	79485169	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CTCCAGGTCACCATGGAAGAAG -3'
(R):5'- AGTCTTGAGGTCTCATGTAGGC -3'

Sequencing Primer
(F):5'- TCACCATGGAAGAAGGCAATGC -3'
(R):5'- AGGCTTTTCTGGTCCTGAGAGTC -3'

Posted On

2015-04-17