Mutagenetix > Incidental Mutation

Incidental Mutation 'R8121:Kcnj10'

631475

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

MMRRC Submission

067550-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R8121 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

172168777-172201652 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 172196809 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Serine at position 108 (C108S)

Ref Sequence

ENSEMBL: ENSMUSP00000054356 (fasta)

Gene Model

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

AlphaFold

Q9JM63

Predicted Effect

probably damaging
Transcript: ENSMUST00000056136
AA Change: C108S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000054356
Gene: ENSMUSG00000044708
AA Change: C108S

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

Coding Region Coverage

1x: 99.9%
3x: 99.8%
10x: 99.1%
20x: 97.3%

Validation Efficiency

100% (60/60)

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: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700003E16Rik	A	T	6: 83,138,893 (GRCm39)	M273L	probably benign	Het
Abi3bp	A	T	16: 56,452,241 (GRCm39)	K912N	unknown	Het
Arfgap2	T	C	2: 91,096,028 (GRCm39)	F62L	probably benign	Het
Arhgap45	A	G	10: 79,853,909 (GRCm39)	E141G	probably damaging	Het
Atraid	G	A	5: 31,211,642 (GRCm39)		probably null	Het
Cd101	G	A	3: 100,927,898 (GRCm39)	A65V	probably damaging	Het
Cd177	A	G	7: 24,459,067 (GRCm39)	V114A	probably benign	Het
Cdh6	T	C	15: 13,044,757 (GRCm39)	N455S	probably damaging	Het
Cdk14	A	T	5: 5,277,195 (GRCm39)	S145T	possibly damaging	Het
Ces1h	T	C	8: 94,080,104 (GRCm39)	E470G	unknown	Het
Cfap58	A	G	19: 48,017,543 (GRCm39)	Y801C	probably benign	Het
Clec2d	C	T	6: 129,161,847 (GRCm39)	T160M	probably benign	Het
Cryz	A	G	3: 154,327,382 (GRCm39)	I269V	probably benign	Het
Ctdp1	A	T	18: 80,499,223 (GRCm39)	Y240N	probably damaging	Het
Dapk1	A	G	13: 60,909,212 (GRCm39)	Y1275C	probably damaging	Het
Dnah9	A	G	11: 65,908,201 (GRCm39)	I2385T	probably benign	Het
Dpp8	A	G	9: 64,985,362 (GRCm39)	M807V	probably benign	Het
Entpd3	T	A	9: 120,384,720 (GRCm39)	I99N	probably damaging	Het
Fbxw11	A	G	11: 32,670,646 (GRCm39)	E204G	possibly damaging	Het
Fscn1	T	C	5: 142,946,616 (GRCm39)	M138T	probably damaging	Het
Gm5114	T	A	7: 39,057,552 (GRCm39)	Q689L	probably benign	Het
Iqgap2	T	C	13: 95,861,076 (GRCm39)	N350S	probably benign	Het
Krtap10-4	G	A	10: 77,662,840 (GRCm39)	R13C	unknown	Het
Lmo7	T	C	14: 102,163,736 (GRCm39)	I1527T	unknown	Het
Lrrc17	A	G	5: 21,775,329 (GRCm39)	K297R	probably benign	Het
Ltb4r1	G	A	14: 56,005,579 (GRCm39)	R294H	probably damaging	Het
Macc1	A	G	12: 119,410,324 (GRCm39)	D364G	probably damaging	Het
Mavs	A	C	2: 131,087,395 (GRCm39)	T298P	probably damaging	Het
Myh8	G	T	11: 67,180,647 (GRCm39)	A628S	probably benign	Het
Neurl4	A	T	11: 69,799,056 (GRCm39)		probably null	Het
Nicn1	C	A	9: 108,172,304 (GRCm39)	T213K	probably damaging	Het
Nptx1	G	A	11: 119,433,492 (GRCm39)	T369I	probably damaging	Het
Nt5c1a	T	C	4: 123,102,235 (GRCm39)	S54P	probably damaging	Het
Nup210l	G	A	3: 90,022,428 (GRCm39)	R132Q	probably damaging	Het
Or2b11	A	T	11: 59,461,870 (GRCm39)	I232N	probably damaging	Het
Or4k41	A	G	2: 111,279,505 (GRCm39)	T7A	probably benign	Het
Or4p18	A	T	2: 88,233,040 (GRCm39)	F79L	probably benign	Het
Or7g22	G	A	9: 19,048,988 (GRCm39)	G233E	probably damaging	Het
Pip5k1b	A	T	19: 24,337,355 (GRCm39)	I311N	probably damaging	Het
Pkdrej	C	T	15: 85,699,655 (GRCm39)	V2094I	probably benign	Het
Pla2g2f	A	G	4: 138,479,621 (GRCm39)	Y179H	probably damaging	Het
Plekha3	A	T	2: 76,516,992 (GRCm39)	T115S	probably damaging	Het
Ppp4c	A	G	7: 126,386,496 (GRCm39)	L167P	probably damaging	Het
Pramel28	T	A	4: 143,691,611 (GRCm39)	S371C	probably benign	Het
Rarg	A	G	15: 102,148,393 (GRCm39)	I238T	probably damaging	Het
Scn7a	A	T	2: 66,531,203 (GRCm39)	I558N	probably damaging	Het
Sema3a	C	A	5: 13,649,215 (GRCm39)	H655N	probably damaging	Het
Serpinb6c	T	C	13: 34,064,201 (GRCm39)	M285V	probably benign	Het
Setx	T	A	2: 29,035,046 (GRCm39)	S510R	possibly damaging	Het
Sgcz	A	G	8: 37,990,457 (GRCm39)	S299P	probably damaging	Het
Slc12a2	T	A	18: 58,032,403 (GRCm39)	F368I	probably benign	Het
Slc7a9	C	A	7: 35,153,542 (GRCm39)	T181K	probably damaging	Het
Slco2b1	G	A	7: 99,334,760 (GRCm39)	T237M	probably benign	Het
Spg11	A	G	2: 121,900,348 (GRCm39)		probably null	Het
Tbc1d22b	G	T	17: 29,791,945 (GRCm39)	G225V	probably damaging	Het
Tbcd	A	G	11: 121,487,969 (GRCm39)		probably null	Het
Unc93a	T	C	17: 13,328,560 (GRCm39)	Y431C	probably benign	Het
Vmn1r65	C	T	7: 6,011,464 (GRCm39)	V257I	possibly damaging	Het
Vmn2r124	A	T	17: 18,282,433 (GRCm39)	T154S	probably benign	Het
Wnk2	A	T	13: 49,214,415 (GRCm39)	L1487*	probably null	Het
Zfp853	G	A	5: 143,274,018 (GRCm39)	A549V	probably damaging	Het
Zfp936	C	T	7: 42,839,547 (GRCm39)	T338I	possibly damaging	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
R3826:Kcnj10	UTSW	1	172,197,616 (GRCm39)	missense	probably damaging	1.00
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
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'- CCTCAAGGATCTATGGACGACC -3'
(R):5'- CGTTATGGGAAGCCACAACG -3'

Sequencing Primer
(F):5'- GGATCTATGGACGACCTTCATTGAC -3'
(R):5'- CAATCTTTGCAAGGAAGGTACCTG -3'

Posted On

2020-06-30