Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01420:Kcnj13'

80405

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Kcnj13

Ensembl Gene

ENSMUSG00000079436

Gene Name

potassium inwardly-rectifying channel, subfamily J, member 13

Synonyms

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL01420

Quality Score

Status

Chromosome

Chromosomal Location

87314085-87322451 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 87316766 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 116 (T116A)

Ref Sequence

ENSEMBL: ENSMUSP00000108838 (fasta)

Gene Model

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

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: T116A

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

SMART Domains

Protein: ENSMUSP00000108838
Gene: ENSMUSG00000079436
AA Change: T116A

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: 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

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

Coding Region Coverage

Validation Efficiency

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: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acap2	A	G	16: 30,920,637 (GRCm39)		probably benign	Het
Actr6	A	T	10: 89,561,027 (GRCm39)		probably benign	Het
Adamts3	A	T	5: 89,850,916 (GRCm39)	M541K	possibly damaging	Het
Adgre4	T	C	17: 56,106,785 (GRCm39)		probably benign	Het
Anxa6	T	C	11: 54,883,189 (GRCm39)	Y481C	probably damaging	Het
Apbb1ip	A	T	2: 22,748,292 (GRCm39)	I371F	possibly damaging	Het
Arhgef10l	T	C	4: 140,297,649 (GRCm39)	D261G	probably damaging	Het
Bche	T	C	3: 73,609,342 (GRCm39)	H28R	probably benign	Het
C2cd3	T	C	7: 100,104,065 (GRCm39)	V2026A	probably benign	Het
Cacna1d	C	T	14: 29,773,595 (GRCm39)	V1697I	probably benign	Het
Celsr2	T	C	3: 108,301,079 (GRCm39)	H2738R	probably benign	Het
Celsr3	A	G	9: 108,718,389 (GRCm39)		probably null	Het
Cep152	A	T	2: 125,405,572 (GRCm39)	D1653E	possibly damaging	Het
Cfap57	T	A	4: 118,470,137 (GRCm39)	I248F	probably benign	Het
Clcnka	C	A	4: 141,116,643 (GRCm39)	R536L	probably benign	Het
Dao	T	A	5: 114,161,881 (GRCm39)		probably benign	Het
Dnajc10	T	C	2: 80,175,367 (GRCm39)	S585P	possibly damaging	Het
Dysf	C	T	6: 84,126,741 (GRCm39)	Q1333*	probably null	Het
Eps8l2	T	A	7: 140,937,576 (GRCm39)	S397T	probably benign	Het
Fap	A	G	2: 62,334,846 (GRCm39)		probably benign	Het
Fbf1	T	C	11: 116,036,822 (GRCm39)	T971A	probably benign	Het
Fbxl17	C	T	17: 63,692,047 (GRCm39)	V22M	probably damaging	Het
Fcgbpl1	T	A	7: 27,839,558 (GRCm39)	M457K	probably benign	Het
Fundc2	T	C	X: 74,434,471 (GRCm39)		probably benign	Het
Heyl	C	A	4: 123,133,967 (GRCm39)	Q42K	probably damaging	Het
Hyal4	A	G	6: 24,755,871 (GRCm39)	K30E	probably benign	Het
Igsf10	T	C	3: 59,227,071 (GRCm39)	I2201V	probably benign	Het
Il34	T	C	8: 111,469,345 (GRCm39)	K157E	probably damaging	Het
Lpl	T	C	8: 69,340,085 (GRCm39)		probably benign	Het
Mcm6	A	G	1: 128,273,612 (GRCm39)	L406P	probably damaging	Het
Mst1	G	A	9: 107,960,027 (GRCm39)	R328H	probably damaging	Het
Nadk2	T	C	15: 9,103,072 (GRCm39)	S308P	probably damaging	Het
Nae1	G	T	8: 105,249,797 (GRCm39)	Q225K	probably benign	Het
Ncoa6	G	A	2: 155,249,507 (GRCm39)	P1266S	probably damaging	Het
Neb	A	G	2: 52,047,389 (GRCm39)	Y6485H	probably damaging	Het
Nin	G	A	12: 70,092,188 (GRCm39)	A707V	probably benign	Het
Nmur1	T	C	1: 86,315,113 (GRCm39)	T218A	probably benign	Het
Npr3	T	C	15: 11,858,718 (GRCm39)	N135D	probably damaging	Het
Nup107	A	T	10: 117,620,926 (GRCm39)	L142Q	probably damaging	Het
Pdgfc	T	A	3: 81,048,750 (GRCm39)	S53T	probably benign	Het
Plxdc2	T	A	2: 16,654,950 (GRCm39)	V232D	probably damaging	Het
Pou2f2	T	C	7: 24,792,377 (GRCm39)	N493D	possibly damaging	Het
Rtel1	T	C	2: 180,996,194 (GRCm39)	I750T	probably benign	Het
Sbk1	A	G	7: 125,891,184 (GRCm39)		probably null	Het
Sec24d	A	G	3: 123,143,658 (GRCm39)	N603S	probably benign	Het
Slc38a10	T	A	11: 119,997,286 (GRCm39)	E736V	probably damaging	Het
Smc6	A	G	12: 11,341,659 (GRCm39)	Y559C	probably benign	Het
Sprr4	A	T	3: 92,407,691 (GRCm39)	V37E	unknown	Het
Sptbn2	A	G	19: 4,784,153 (GRCm39)	T632A	probably benign	Het
Trim31	A	G	17: 37,209,303 (GRCm39)	M20V	probably benign	Het
Trim65	C	A	11: 116,017,335 (GRCm39)	V376L	probably damaging	Het
Ttn	T	C	2: 76,542,420 (GRCm39)	D25195G	probably damaging	Het
Tysnd1	A	G	10: 61,537,830 (GRCm39)	T503A	possibly damaging	Het
Vtn	A	T	11: 78,390,200 (GRCm39)	I9L	probably benign	Het
Zfp398	A	G	6: 47,842,868 (GRCm39)	M175V	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
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
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

Posted On

2013-11-05