Mutagenetix > Incidental Mutation

Incidental Mutation 'R6830:Kcnj13'

534324

Institutional Source

Beutler Lab

Gene Symbol

Kcnj13

Ensembl Gene

ENSMUSG00000079436

Gene Name

potassium inwardly-rectifying channel, subfamily J, member 13

Synonyms

MMRRC Submission

044940-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R6830 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

87314085-87322451 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 87314745 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Arginine at position 159 (K159R)

Ref Sequence

ENSEMBL: ENSMUSP00000108838 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000027475] [ENSMUST00000113212] [ENSMUST00000164992] [ENSMUST00000172794] [ENSMUST00000172964] [ENSMUST00000173173] [ENSMUST00000174179] [ENSMUST00000174334] [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 damaging
Transcript: ENSMUST00000113212
AA Change: K159R

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

SMART Domains

Protein: ENSMUSP00000108838
Gene: ENSMUSG00000079436
AA Change: K159R

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

silent
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: 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: 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

0.7585

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.4%
20x: 98.1%

Validation Efficiency

98% (53/54)

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: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930503B20Rik	T	C	3: 146,356,716 (GRCm39)	D64G	possibly damaging	Het
Amtn	T	C	5: 88,525,956 (GRCm39)	L40P	probably damaging	Het
Ano6	A	G	15: 95,792,342 (GRCm39)	R90G	probably damaging	Het
Arfgef3	A	C	10: 18,540,637 (GRCm39)		probably null	Het
Asxl3	C	T	18: 22,658,445 (GRCm39)	P2152S	probably benign	Het
Atp7b	A	T	8: 22,512,381 (GRCm39)	V494E	probably damaging	Het
Bik	T	A	15: 83,428,409 (GRCm39)	Y146N	probably benign	Het
C1qtnf7	A	T	5: 43,766,436 (GRCm39)	I12F	possibly damaging	Het
Cacna1e	A	G	1: 154,289,720 (GRCm39)		probably null	Het
Ccdc168	A	G	1: 44,095,890 (GRCm39)	V1736A	probably benign	Het
Ccnj	A	G	19: 40,833,636 (GRCm39)	E231G	probably damaging	Het
Cd101	T	C	3: 100,901,012 (GRCm39)	K1020R	probably benign	Het
Cdh6	C	A	15: 13,044,860 (GRCm39)	V421L	probably benign	Het
Cplane1	T	C	15: 8,205,668 (GRCm39)	S135P	probably benign	Het
Decr1	T	C	4: 15,924,355 (GRCm39)		probably null	Het
Dmxl1	C	T	18: 50,054,091 (GRCm39)	P2566S	probably damaging	Het
Dock9	G	A	14: 121,860,330 (GRCm39)	P866L	probably damaging	Het
Epx	A	G	11: 87,759,452 (GRCm39)	F546L	probably damaging	Het
Fat4	T	A	3: 39,035,966 (GRCm39)	M3206K	probably benign	Het
Fgb	T	C	3: 82,952,332 (GRCm39)	D179G	probably benign	Het
Gbgt1	A	G	2: 28,395,220 (GRCm39)	D286G	probably damaging	Het
Gpn1	T	A	5: 31,664,832 (GRCm39)	S285R	probably benign	Het
Htt	T	A	5: 34,991,670 (GRCm39)	Y1212N	possibly damaging	Het
Ldb2	T	A	5: 44,699,199 (GRCm39)	I80F	probably damaging	Het
Macrod2	T	A	2: 140,294,602 (GRCm39)	N89K	probably damaging	Het
Mdga2	G	A	12: 66,769,775 (GRCm39)	R173C	probably damaging	Het
Mroh9	A	G	1: 162,903,935 (GRCm39)	F26L	probably benign	Het
Neil3	G	T	8: 54,052,514 (GRCm39)	N361K	probably benign	Het
Nepro	A	G	16: 44,551,720 (GRCm39)	R193G	probably damaging	Het
Or52d3	T	A	7: 104,229,447 (GRCm39)	I198N	probably damaging	Het
Pclo	A	T	5: 14,731,113 (GRCm39)	Q3205L	unknown	Het
Plekhm1	A	T	11: 103,267,715 (GRCm39)	I752N	probably damaging	Het
Podn	T	C	4: 107,878,614 (GRCm39)	T273A	possibly damaging	Het
Prep	T	A	10: 44,973,597 (GRCm39)	M235K	probably benign	Het
Ptprc	A	T	1: 137,999,993 (GRCm39)		probably null	Het
Reg2	A	G	6: 78,384,625 (GRCm39)	H119R	possibly damaging	Het
Rpe65	T	C	3: 159,319,805 (GRCm39)	V225A	probably benign	Het
Scn9a	T	C	2: 66,398,373 (GRCm39)	D79G	probably damaging	Het
Slc25a23	G	A	17: 57,360,804 (GRCm39)	R9*	probably null	Het
Snai3	A	G	8: 123,183,212 (GRCm39)	L111P	probably damaging	Het
Stk38	A	G	17: 29,218,981 (GRCm39)		probably null	Het
Stk38l	A	T	6: 146,668,269 (GRCm39)	I115F	possibly damaging	Het
Tmco6	T	A	18: 36,871,406 (GRCm39)		probably null	Het
Tollip	A	T	7: 141,452,451 (GRCm39)	M1K	probably null	Het
Trim40	T	C	17: 37,199,742 (GRCm39)	Y112C	possibly damaging	Het
Ttc27	T	A	17: 75,163,550 (GRCm39)	Y719*	probably null	Het
Ubald1	T	C	16: 4,697,584 (GRCm39)	D6G	probably damaging	Het
Vmn2r59	A	T	7: 41,693,171 (GRCm39)	S476R	probably benign	Het
Wfdc3	C	T	2: 164,576,178 (GRCm39)	G38R	possibly damaging	Het
Zbtb21	C	T	16: 97,753,161 (GRCm39)	G402D	probably damaging	Het
Zfp84	A	G	7: 29,475,911 (GRCm39)	Y201C	probably benign	Het
Zswim2	T	A	2: 83,770,028 (GRCm39)	H62L	probably damaging	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
R3418:Kcnj13	UTSW	1	87,314,641 (GRCm39)	missense	probably benign	0.08
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
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'- CACACTGGTCTGGTAAAGTTCAC -3'
(R):5'- ACCACGCTCAGTTCTTGAAC -3'

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

Posted On

2018-09-12