Mutagenetix > Incidental Mutation

Incidental Mutation 'R3826:Kcnj10'

275380

Institutional Source

Beutler Lab

Gene Symbol

Kcnj10

Ensembl Gene

ENSMUSG00000044708

Gene Name

potassium inwardly-rectifying channel, subfamily J, member 10

Synonyms

Kir4.1, BIRK-1, Kir4.1, Kir1.2, BIR10

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R3826 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

172168777-172201652 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 172197616 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Cysteine at position 377 (S377C)

Ref Sequence

ENSEMBL: ENSMUSP00000054356 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000056136]

AlphaFold

Q9JM63

Predicted Effect

probably damaging
Transcript: ENSMUST00000056136
AA Change: S377C

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000054356
Gene: ENSMUSG00000044708
AA Change: S377C

Domain	Start	End	E-Value	Type
Pfam:IRK	31	363	2.2e-136	PFAM

Meta Mutation Damage Score

0.1653

Coding Region Coverage

1x: 99.3%
3x: 98.8%
10x: 97.7%
20x: 96.3%

Validation Efficiency

100% (56/56)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the inward rectifier-type potassium channel family, characterized by having a greater tendency to allow potassium to flow into, rather than out of, a cell. The encoded protein may form a heterodimer with another potassium channel protein and may be responsible for the potassium buffering action of glial cells in the brain. Mutations in this gene have been associated with seizure susceptibility of common idiopathic generalized epilepsy syndromes. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous mutant mice show increased input resistance and high depolarization of retinal Muller cells, loss of the endocochlear potential, motor coordination deficits and hindlimb paralysis, and a hypomyelination and spongiform vacuolation in the spinalcord associated with severe axonal pathology. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadacl2fm1	T	A	3: 59,843,896 (GRCm39)	S197T	possibly damaging	Het
Actl6b	T	C	5: 137,565,535 (GRCm39)	L377P	probably damaging	Het
Apc	C	A	18: 34,412,388 (GRCm39)	Q236K	possibly damaging	Het
Atn1	G	A	6: 124,723,182 (GRCm39)		probably benign	Het
Ccr3	A	G	9: 123,829,714 (GRCm39)	T350A	possibly damaging	Het
Cdc42bpg	T	C	19: 6,367,675 (GRCm39)	V1015A	probably damaging	Het
Chd2	A	G	7: 73,141,163 (GRCm39)	Y577H	possibly damaging	Het
Col1a2	A	G	6: 4,516,960 (GRCm39)		probably benign	Het
Col4a1	C	A	8: 11,259,650 (GRCm39)	G1341V	probably damaging	Het
Commd9	C	A	2: 101,727,486 (GRCm39)	N93K	probably benign	Het
Cplane2	C	T	4: 140,945,900 (GRCm39)	R148C	probably damaging	Het
Cx3cl1	A	T	8: 95,503,934 (GRCm39)		probably benign	Het
Dhx37	T	C	5: 125,508,677 (GRCm39)	K86R	probably benign	Het
Dlec1	T	C	9: 118,972,129 (GRCm39)		probably benign	Het
Dnah17	G	A	11: 117,931,984 (GRCm39)		probably benign	Het
Fam234a	T	C	17: 26,437,163 (GRCm39)	E172G	probably benign	Het
Ffar2	A	T	7: 30,519,510 (GRCm39)	I10N	possibly damaging	Het
Gas2	T	C	7: 51,586,367 (GRCm39)		probably null	Het
Gpat4	G	A	8: 23,670,171 (GRCm39)	P286L	probably damaging	Het
Grpel1	T	A	5: 36,626,827 (GRCm39)	N36K	probably benign	Het
Hgfac	C	A	5: 35,205,506 (GRCm39)	D595E	probably damaging	Het
Kcnq2	C	T	2: 180,746,693 (GRCm39)	V369I	possibly damaging	Het
Kcnt1	T	C	2: 25,805,880 (GRCm39)		probably null	Het
Lpcat1	T	C	13: 73,637,212 (GRCm39)	I114T	possibly damaging	Het
Mast4	G	T	13: 102,875,319 (GRCm39)	H1350N	probably damaging	Het
Mcts1	T	C	X: 37,691,445 (GRCm39)		probably benign	Het
Muc21	A	G	17: 35,932,504 (GRCm39)		probably benign	Het
Myg1	G	C	15: 102,246,171 (GRCm39)	G349R	probably damaging	Het
Ncor2	T	C	5: 125,195,756 (GRCm39)		probably benign	Het
Or1o4	T	A	17: 37,591,140 (GRCm39)	Y57F	probably damaging	Het
Or5t17	T	A	2: 86,832,388 (GRCm39)	I25K	probably damaging	Het
Or9g4b	C	T	2: 85,616,559 (GRCm39)	R235*	probably null	Het
Panx2	A	G	15: 88,952,664 (GRCm39)	D377G	probably damaging	Het
Pcdhb10	C	A	18: 37,545,470 (GRCm39)	T182N	probably damaging	Het
Pdha2	G	T	3: 140,916,889 (GRCm39)	F206L	possibly damaging	Het
Pgd	T	C	4: 149,250,461 (GRCm39)		probably benign	Het
Pgs1	C	T	11: 117,910,584 (GRCm39)		probably null	Het
Rere	T	C	4: 150,554,785 (GRCm39)	V161A	probably benign	Het
Rgs12	G	A	5: 35,123,359 (GRCm39)	V381M	possibly damaging	Het
Rrm2	G	T	12: 24,758,598 (GRCm39)	A47S	probably benign	Het
Rsph6a	T	C	7: 18,791,539 (GRCm39)	L236P	probably damaging	Het
Rtkn2	A	T	10: 67,833,456 (GRCm39)		probably null	Het
Rubcnl	C	T	14: 75,269,665 (GRCm39)	L108F	possibly damaging	Het
Sap18b	T	C	8: 96,552,185 (GRCm39)	F65S	probably damaging	Het
Scap	A	G	9: 110,210,365 (GRCm39)	M925V	probably benign	Het
Slc7a8	A	G	14: 54,975,029 (GRCm39)	I200T	probably damaging	Het
Srrm3	A	G	5: 135,886,068 (GRCm39)	D336G	probably damaging	Het
Stk11	T	C	10: 79,963,782 (GRCm39)		probably null	Het
Tiam2	C	G	17: 3,557,976 (GRCm39)		probably benign	Het
Tmem59l	A	G	8: 70,939,951 (GRCm39)	L6S	unknown	Het
Trio	T	A	15: 27,833,156 (GRCm39)	K75N	probably damaging	Het
Tspan18	T	C	2: 93,050,453 (GRCm39)	I57V	probably benign	Het
Ube3b	C	A	5: 114,538,012 (GRCm39)	Q368K	probably damaging	Het
Zfhx4	A	T	3: 5,466,269 (GRCm39)	K2142N	probably damaging	Het
Zfp37	T	C	4: 62,110,800 (GRCm39)	N88S	probably benign	Het
Zswim8	C	T	14: 20,761,157 (GRCm39)	R142*	probably null	Het

Other mutations in Kcnj10

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01771:Kcnj10	APN	1	172,197,150 (GRCm39)	missense	probably benign	0.11
IGL02743:Kcnj10	APN	1	172,197,221 (GRCm39)	missense	possibly damaging	0.95
R0052:Kcnj10	UTSW	1	172,196,491 (GRCm39)	missense	probably benign	0.30
R0490:Kcnj10	UTSW	1	172,197,019 (GRCm39)	missense	probably damaging	0.96
R1424:Kcnj10	UTSW	1	172,196,822 (GRCm39)	missense	probably damaging	1.00
R2153:Kcnj10	UTSW	1	172,197,455 (GRCm39)	missense	possibly damaging	0.90
R3735:Kcnj10	UTSW	1	172,197,533 (GRCm39)	missense	possibly damaging	0.81
R4725:Kcnj10	UTSW	1	172,196,726 (GRCm39)	missense	probably damaging	1.00
R4726:Kcnj10	UTSW	1	172,196,639 (GRCm39)	missense	probably damaging	1.00
R4727:Kcnj10	UTSW	1	172,197,266 (GRCm39)	missense	probably damaging	1.00
R5434:Kcnj10	UTSW	1	172,197,047 (GRCm39)	missense	probably damaging	1.00
R5755:Kcnj10	UTSW	1	172,197,161 (GRCm39)	missense	possibly damaging	0.81
R6146:Kcnj10	UTSW	1	172,196,892 (GRCm39)	nonsense	probably null
R7029:Kcnj10	UTSW	1	172,196,563 (GRCm39)	missense	probably benign	0.07
R7235:Kcnj10	UTSW	1	172,196,993 (GRCm39)	missense	probably damaging	0.98
R7350:Kcnj10	UTSW	1	172,196,827 (GRCm39)	missense	possibly damaging	0.52
R8121:Kcnj10	UTSW	1	172,196,809 (GRCm39)	missense	probably damaging	1.00
R8218:Kcnj10	UTSW	1	172,196,539 (GRCm39)	missense	probably damaging	0.98
R8702:Kcnj10	UTSW	1	172,197,127 (GRCm39)	missense	probably benign	0.27
R8991:Kcnj10	UTSW	1	172,196,963 (GRCm39)	missense	probably damaging	0.99
Z1177:Kcnj10	UTSW	1	172,196,788 (GRCm39)	missense	probably benign	0.14
Z1177:Kcnj10	UTSW	1	172,196,702 (GRCm39)	missense	possibly damaging	0.86

Predicted Primers

PCR Primer
(F):5'- CCAGTGGCAAATACATAGCTGAC -3'
(R):5'- TTCCAAGCCATGTCAGCCTC -3'

Sequencing Primer
(F):5'- GTGGCAAATACATAGCTGACTTCAG -3'
(R):5'- TTCCCCCAAGCTGGCTTAAGAG -3'

Posted On

2015-04-02