Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01025:Kcnj13'

59789

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 #

IGL01025

Quality Score

Status

Chromosome

Chromosomal Location

87314085-87322451 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 87314700 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Alanine at position 174 (D174A)

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 benign
Transcript: ENSMUST00000113212
AA Change: D174A

PolyPhen 2 Score 0.023 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000108838
Gene: ENSMUSG00000079436
AA Change: D174A

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
Acap3	G	A	4: 155,986,676 (GRCm39)	V335M	probably damaging	Het
Apex1	C	T	14: 51,163,711 (GRCm39)	L113F	possibly damaging	Het
Bltp1	T	A	3: 37,100,429 (GRCm39)	H1218Q	possibly damaging	Het
Cd33	C	T	7: 43,182,329 (GRCm39)	V39M	probably damaging	Het
Chek2	A	G	5: 110,996,536 (GRCm39)	D166G	probably damaging	Het
Col2a1	T	C	15: 97,874,054 (GRCm39)	K1376R	unknown	Het
Cpd	C	T	11: 76,686,439 (GRCm39)	R963H	probably damaging	Het
Cracd	A	G	5: 76,805,921 (GRCm39)		probably benign	Het
Cyp2c67	A	C	19: 39,628,376 (GRCm39)	Y189*	probably null	Het
Dock6	T	C	9: 21,723,103 (GRCm39)	E1606G	possibly damaging	Het
Dusp4	A	T	8: 35,285,666 (GRCm39)	E309V	probably benign	Het
Dync2h1	A	G	9: 7,162,789 (GRCm39)	I600T	probably damaging	Het
Fer1l4	A	G	2: 155,894,105 (GRCm39)	V66A	probably benign	Het
Fktn	T	C	4: 53,737,568 (GRCm39)	L269P	possibly damaging	Het
Ftsj3	A	G	11: 106,141,185 (GRCm39)	I645T	probably damaging	Het
Fxr2	A	G	11: 69,534,713 (GRCm39)	H198R	probably damaging	Het
Fzd7	T	C	1: 59,523,539 (GRCm39)	V474A	probably damaging	Het
Gm10295	T	A	7: 71,000,406 (GRCm39)	D58V	unknown	Het
Hdlbp	T	C	1: 93,357,891 (GRCm39)	I337V	probably benign	Het
Hydin	T	C	8: 111,053,033 (GRCm39)	V235A	probably benign	Het
Igfbp4	C	T	11: 98,939,069 (GRCm39)	H30Y	probably damaging	Het
Kcna4	T	C	2: 107,126,736 (GRCm39)	V490A	probably damaging	Het
Krt7	T	A	15: 101,321,302 (GRCm39)	L373Q	probably benign	Het
Lama3	G	A	18: 12,614,094 (GRCm39)	V1288I	probably benign	Het
Mroh9	T	C	1: 162,875,435 (GRCm39)	D488G	possibly damaging	Het
Myh7	T	C	14: 55,216,994 (GRCm39)	E1121G	probably damaging	Het
Myom1	A	G	17: 71,384,912 (GRCm39)	N768D	probably damaging	Het
Naa16	T	C	14: 79,622,196 (GRCm39)	T48A	probably damaging	Het
Naglu	C	T	11: 100,964,773 (GRCm39)	P287S	probably benign	Het
Nipbl	A	G	15: 8,379,939 (GRCm39)	V951A	possibly damaging	Het
Nlrp3	T	A	11: 59,442,713 (GRCm39)	M755K	probably benign	Het
Nlrp4e	T	C	7: 23,052,586 (GRCm39)		probably benign	Het
Nt5dc1	C	T	10: 34,283,553 (GRCm39)	A79T	possibly damaging	Het
Or10aa3	T	C	1: 173,878,251 (GRCm39)	F104S	probably damaging	Het
Or6c205	A	T	10: 129,086,609 (GRCm39)	I69F	possibly damaging	Het
Or8b47	A	G	9: 38,435,029 (GRCm39)		probably benign	Het
Otof	A	G	5: 30,541,597 (GRCm39)	L774P	possibly damaging	Het
Phf20l1	C	T	15: 66,484,981 (GRCm39)	R322C	probably damaging	Het
Pkhd1	C	T	1: 20,279,400 (GRCm39)	G2973R	probably benign	Het
Plekhg5	G	T	4: 152,192,983 (GRCm39)	D613Y	probably damaging	Het
Ppm1h	T	A	10: 122,714,534 (GRCm39)		probably null	Het
Pramel31	T	A	4: 144,089,947 (GRCm39)	L329Q	probably damaging	Het
Prpf39	T	C	12: 65,089,255 (GRCm39)		probably benign	Het
Rtn3	A	G	19: 7,460,406 (GRCm39)	S15P	unknown	Het
Slc22a28	G	T	19: 8,094,272 (GRCm39)		probably benign	Het
Slc4a5	T	A	6: 83,239,515 (GRCm39)	L143Q	probably damaging	Het
Sox17	T	C	1: 4,562,426 (GRCm39)	D130G	possibly damaging	Het
Stag1	A	G	9: 100,833,710 (GRCm39)	T1108A	possibly damaging	Het
Sugp2	G	A	8: 70,695,185 (GRCm39)	D53N	probably damaging	Het
Trim33	G	A	3: 103,261,234 (GRCm39)		probably benign	Het
Ttn	A	G	2: 76,629,568 (GRCm39)	I14291T	probably damaging	Het
Ttn	A	G	2: 76,619,869 (GRCm39)	V15933A	probably damaging	Het
Tulp3	A	C	6: 128,302,847 (GRCm39)	I324S	probably damaging	Het
Zfhx2	T	C	14: 55,301,717 (GRCm39)	E2089G	probably damaging	Het
Zhx1	T	C	15: 57,918,075 (GRCm39)	D57G	probably benign	Het

Other mutations in Kcnj13

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
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

2013-07-11