Mutagenetix > Incidental Mutation

Incidental Mutation 'R3418:Kcnj13'

266875

Institutional Source

Beutler Lab

Gene Symbol

Kcnj13

Ensembl Gene

ENSMUSG00000079436

Gene Name

potassium inwardly-rectifying channel, subfamily J, member 13

Synonyms

MMRRC Submission

040636-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R3418 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

87314085-87322451 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 87314641 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 194 (T194A)

Ref Sequence

ENSEMBL: ENSMUSP00000108838 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000027475] [ENSMUST00000113212] [ENSMUST00000164992] [ENSMUST00000172794] [ENSMUST00000172964] [ENSMUST00000173173] [ENSMUST00000174334] [ENSMUST00000174179] [ENSMUST00000174501]

AlphaFold

P86046

Predicted Effect

probably benign
Transcript: ENSMUST00000027475

SMART Domains

Protein: ENSMUSP00000027475
Gene: ENSMUSG00000048000

Domain	Start	End	E-Value	Type
low complexity region	66	83	N/A	INTRINSIC
low complexity region	99	132	N/A	INTRINSIC
low complexity region	143	155	N/A	INTRINSIC
low complexity region	247	285	N/A	INTRINSIC
low complexity region	330	341	N/A	INTRINSIC
internal_repeat_1	344	384	2.48e-5	PROSPERO
internal_repeat_1	404	440	2.48e-5	PROSPERO
GYF	535	590	2.83e-26	SMART
low complexity region	620	667	N/A	INTRINSIC
coiled coil region	723	1037	N/A	INTRINSIC
low complexity region	1096	1110	N/A	INTRINSIC
low complexity region	1119	1130	N/A	INTRINSIC
coiled coil region	1194	1223	N/A	INTRINSIC
low complexity region	1236	1246	N/A	INTRINSIC
low complexity region	1254	1260	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000113212
AA Change: T194A

PolyPhen 2 Score 0.084 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000108838
Gene: ENSMUSG00000079436
AA Change: T194A

Domain	Start	End	E-Value	Type
Pfam:IRK	21	345	3.5e-93	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000164992

SMART Domains

Protein: ENSMUSP00000129046
Gene: ENSMUSG00000048000

Domain	Start	End	E-Value	Type
low complexity region	66	83	N/A	INTRINSIC
low complexity region	99	129	N/A	INTRINSIC
low complexity region	190	228	N/A	INTRINSIC
low complexity region	273	284	N/A	INTRINSIC
GYF	478	533	2.83e-26	SMART
low complexity region	563	610	N/A	INTRINSIC
coiled coil region	666	721	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000172794

SMART Domains

Protein: ENSMUSP00000134077
Gene: ENSMUSG00000048000

Domain	Start	End	E-Value	Type
low complexity region	66	83	N/A	INTRINSIC
low complexity region	99	132	N/A	INTRINSIC
low complexity region	143	155	N/A	INTRINSIC
low complexity region	241	279	N/A	INTRINSIC
low complexity region	324	335	N/A	INTRINSIC
internal_repeat_1	338	378	2.29e-5	PROSPERO
internal_repeat_1	398	434	2.29e-5	PROSPERO
GYF	529	584	2.83e-26	SMART
low complexity region	614	661	N/A	INTRINSIC
coiled coil region	717	1031	N/A	INTRINSIC
low complexity region	1090	1104	N/A	INTRINSIC
low complexity region	1113	1124	N/A	INTRINSIC
coiled coil region	1188	1217	N/A	INTRINSIC
low complexity region	1230	1240	N/A	INTRINSIC
low complexity region	1248	1254	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000172964

SMART Domains

Protein: ENSMUSP00000133392
Gene: ENSMUSG00000048000

Domain	Start	End	E-Value	Type
low complexity region	66	83	N/A	INTRINSIC
low complexity region	99	132	N/A	INTRINSIC
low complexity region	143	155	N/A	INTRINSIC
low complexity region	247	285	N/A	INTRINSIC
low complexity region	330	341	N/A	INTRINSIC
internal_repeat_1	344	384	3.03e-5	PROSPERO
internal_repeat_1	404	440	3.03e-5	PROSPERO
GYF	535	590	2.83e-26	SMART
low complexity region	620	667	N/A	INTRINSIC
SCOP:d1eq1a_	724	859	1e-2	SMART
low complexity region	953	972	N/A	INTRINSIC
low complexity region	1008	1031	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000173173

SMART Domains

Protein: ENSMUSP00000134193
Gene: ENSMUSG00000048000

Domain	Start	End	E-Value	Type
low complexity region	66	83	N/A	INTRINSIC
low complexity region	99	132	N/A	INTRINSIC
low complexity region	143	155	N/A	INTRINSIC
low complexity region	241	279	N/A	INTRINSIC
low complexity region	324	335	N/A	INTRINSIC
GYF	528	583	2.83e-26	SMART
low complexity region	613	660	N/A	INTRINSIC
SCOP:d1eq1a_	717	852	1e-3	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000173850

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000174535

Predicted Effect

probably benign
Transcript: ENSMUST00000174334

SMART Domains

Protein: ENSMUSP00000133666
Gene: ENSMUSG00000048000

Domain	Start	End	E-Value	Type
low complexity region	77	84	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000174179

SMART Domains

Protein: ENSMUSP00000133524
Gene: ENSMUSG00000079436

Domain	Start	End	E-Value	Type
Pfam:IRK	21	80	1.7e-16	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000174501

SMART Domains

Protein: ENSMUSP00000133327
Gene: ENSMUSG00000048000

Domain	Start	End	E-Value	Type
low complexity region	66	83	N/A	INTRINSIC
low complexity region	99	132	N/A	INTRINSIC
low complexity region	143	155	N/A	INTRINSIC
low complexity region	247	285	N/A	INTRINSIC
low complexity region	330	341	N/A	INTRINSIC
internal_repeat_1	344	384	2.48e-5	PROSPERO
internal_repeat_1	404	440	2.48e-5	PROSPERO
GYF	535	590	2.83e-26	SMART
low complexity region	620	667	N/A	INTRINSIC
coiled coil region	723	1037	N/A	INTRINSIC
low complexity region	1096	1110	N/A	INTRINSIC
low complexity region	1119	1130	N/A	INTRINSIC
coiled coil region	1194	1223	N/A	INTRINSIC
low complexity region	1236	1246	N/A	INTRINSIC
low complexity region	1254	1260	N/A	INTRINSIC

Meta Mutation Damage Score

0.6425

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 94.6%

Validation Efficiency

98% (61/62)

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 inwardly rectifying potassium channel family of proteins. Members of this family form ion channel pores that allow potassium ions to pass into a cell. The encoded protein belongs to a subfamily of low signal channel conductance proteins that have a low dependence on potassium concentration. Mutations in this gene are associated with snowflake vitreoretinal degeneration. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Feb 2010]
PHENOTYPE: Homozygous mutant null mice die shortly after birth, exhibit cleft palate and pulmonary abnormalities in embryonic lungs. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
5530400C23Rik	A	G	6: 133,271,082 (GRCm39)	Q42R	probably benign	Het
Acaa1a	A	G	9: 119,178,556 (GRCm39)		probably null	Het
Agbl5	T	C	5: 31,062,067 (GRCm39)	S756P	probably damaging	Het
Armc9	T	C	1: 86,122,060 (GRCm39)	L395P	probably damaging	Het
Cdc16	C	T	8: 13,819,489 (GRCm39)	Q362*	probably null	Het
Cdh5	C	T	8: 104,856,002 (GRCm39)	R312C	probably damaging	Het
Cep170b	C	T	12: 112,704,902 (GRCm39)	Q887*	probably null	Het
Chd9	T	C	8: 91,763,219 (GRCm39)	I2348T	probably damaging	Het
Clec9a	A	G	6: 129,398,001 (GRCm39)		probably benign	Het
Col6a3	T	C	1: 90,731,813 (GRCm39)	D873G	probably benign	Het
D130040H23Rik	T	C	8: 69,755,579 (GRCm39)	I328T	probably benign	Het
Dido1	G	T	2: 180,302,728 (GRCm39)	D1725E	possibly damaging	Het
Dnajb14	A	G	3: 137,598,631 (GRCm39)	D123G	probably null	Het
Dock2	A	T	11: 34,580,587 (GRCm39)	M661K	probably damaging	Het
Esam	C	T	9: 37,448,426 (GRCm39)		probably null	Het
Fam20c	A	T	5: 138,743,623 (GRCm39)	N220Y	probably damaging	Het
Fat2	G	T	11: 55,169,824 (GRCm39)	H2978Q	probably benign	Het
Fbn1	T	C	2: 125,162,846 (GRCm39)	T2147A	possibly damaging	Het
Fdft1	T	C	14: 63,394,070 (GRCm39)	T214A	probably damaging	Het
Fhl5	T	C	4: 25,211,252 (GRCm39)	S147G	probably benign	Het
Flrt2	A	G	12: 95,747,378 (GRCm39)	Y572C	probably damaging	Het
Gcat	A	T	15: 78,926,297 (GRCm39)	T56S	possibly damaging	Het
Gemin5	A	T	11: 58,047,454 (GRCm39)		probably null	Het
Gm4736	A	T	6: 132,092,640 (GRCm39)		noncoding transcript	Het
Grin2b	T	C	6: 135,820,108 (GRCm39)	N368S	probably benign	Het
Gsto1	T	C	19: 47,846,344 (GRCm39)	F64L	probably benign	Het
Gucy1a1	A	G	3: 82,013,440 (GRCm39)	S401P	probably damaging	Het
Htr1f	G	A	16: 64,746,260 (GRCm39)	P344L	probably damaging	Het
Ighv7-3	T	A	12: 114,116,919 (GRCm39)	Y81F	probably damaging	Het
Jakmip3	C	A	7: 138,619,474 (GRCm39)		probably benign	Het
Khdrbs3	T	C	15: 68,921,224 (GRCm39)		probably benign	Het
Klk14	G	A	7: 43,341,501 (GRCm39)	C51Y	probably damaging	Het
Lyn	A	T	4: 3,746,833 (GRCm39)	I204F	probably damaging	Het
Mbd6	C	G	10: 127,122,372 (GRCm39)	R152P	probably null	Het
Myof	A	G	19: 37,911,426 (GRCm39)	S1502P	probably damaging	Het
Myom2	T	G	8: 15,135,294 (GRCm39)	I499S	probably benign	Het
Nos2	T	A	11: 78,850,521 (GRCm39)	F1126L	possibly damaging	Het
Or3a4	G	A	11: 73,944,814 (GRCm39)	T257I	probably damaging	Het
P2ry1	T	C	3: 60,911,133 (GRCm39)	F91L	probably damaging	Het
Pcdh15	C	A	10: 74,420,054 (GRCm39)	D1166E	probably benign	Het
Pou6f1	C	A	15: 100,478,805 (GRCm39)	V368L	probably benign	Het
Ptcd3	A	T	6: 71,860,470 (GRCm39)	I579K	possibly damaging	Het
Rbm45	A	G	2: 76,209,362 (GRCm39)	E392G	probably damaging	Het
Rnf168	A	G	16: 32,118,010 (GRCm39)	N524D	probably benign	Het
Rnf222	G	T	11: 68,783,982 (GRCm39)	R183L	probably damaging	Het
Robo1	C	T	16: 72,832,805 (GRCm39)	T1526I	probably benign	Het
Sel1l	A	G	12: 91,776,776 (GRCm39)	W689R	probably damaging	Het
Serpinb13	T	C	1: 106,926,657 (GRCm39)	S218P	probably damaging	Het
Serpini1	A	G	3: 75,547,589 (GRCm39)	Y367C	probably damaging	Het
Slc13a2	A	G	11: 78,291,666 (GRCm39)	F329S	probably benign	Het
Smc2	T	C	4: 52,476,850 (GRCm39)		probably benign	Het
Sycp2	A	T	2: 178,043,446 (GRCm39)		probably benign	Het
Tab2	G	A	10: 7,783,245 (GRCm39)	P679L	probably damaging	Het
Tdrd1	T	A	19: 56,819,663 (GRCm39)	N54K	possibly damaging	Het
Tgfbr2	T	C	9: 115,958,901 (GRCm39)	Y146C	probably damaging	Het
Tnfrsf11a	A	G	1: 105,737,130 (GRCm39)	D79G	possibly damaging	Het
Trpa1	T	C	1: 14,944,605 (GRCm39)	I1046M	probably benign	Het
Ubn1	A	G	16: 4,892,243 (GRCm39)		probably benign	Het
Ubp1	T	C	9: 113,780,754 (GRCm39)		probably null	Het
Vmn2r2	A	T	3: 64,024,320 (GRCm39)	F754I	probably benign	Het

Other mutations in Kcnj13

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01025:Kcnj13	APN	1	87,314,700 (GRCm39)	missense	probably benign	0.02
IGL01108:Kcnj13	APN	1	87,314,659 (GRCm39)	missense	probably benign
IGL01420:Kcnj13	APN	1	87,316,766 (GRCm39)	missense	probably damaging	1.00
IGL02747:Kcnj13	APN	1	87,317,087 (GRCm39)	missense	probably benign	0.00
IGL02937:Kcnj13	APN	1	87,314,175 (GRCm39)	missense	probably damaging	1.00
R0472:Kcnj13	UTSW	1	87,314,568 (GRCm39)	missense	probably benign	0.22
R0486:Kcnj13	UTSW	1	87,314,752 (GRCm39)	missense	probably damaging	1.00
R1494:Kcnj13	UTSW	1	87,316,939 (GRCm39)	missense	probably damaging	1.00
R2131:Kcnj13	UTSW	1	87,314,256 (GRCm39)	missense	probably benign	0.03
R2392:Kcnj13	UTSW	1	87,314,622 (GRCm39)	missense	possibly damaging	0.83
R3419:Kcnj13	UTSW	1	87,314,641 (GRCm39)	missense	probably benign	0.08
R5773:Kcnj13	UTSW	1	87,314,389 (GRCm39)	missense	probably damaging	0.99
R6215:Kcnj13	UTSW	1	87,314,256 (GRCm39)	missense	probably benign	0.03
R6284:Kcnj13	UTSW	1	87,314,608 (GRCm39)	missense	probably damaging	1.00
R6773:Kcnj13	UTSW	1	87,314,482 (GRCm39)	missense	possibly damaging	0.82
R6830:Kcnj13	UTSW	1	87,314,745 (GRCm39)	missense	probably damaging	1.00
R7365:Kcnj13	UTSW	1	87,316,739 (GRCm39)	missense	probably damaging	1.00
R8297:Kcnj13	UTSW	1	87,314,189 (GRCm39)	missense	probably damaging	1.00
R9571:Kcnj13	UTSW	1	87,316,849 (GRCm39)	missense	probably damaging	0.96
R9725:Kcnj13	UTSW	1	87,314,737 (GRCm39)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- TCATGTTGGAGCAGGGTAGC -3'
(R):5'- GGAACCACGCTCAGTTCTTG -3'

Sequencing Primer
(F):5'- CAGGGTAGCTAGAGGACTTGATG -3'
(R):5'- ACGCTCAGTTCTTGAACTTTTGTAAC -3'

Posted On

2015-02-18