Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01067:Enkur'

50404

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Enkur

Ensembl Gene

ENSMUSG00000026679

Gene Name

enkurin, TRPC channel interacting protein

Synonyms

4933434I06Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.137) question?

Stock #

IGL01067

Quality Score

Status

Chromosome

Chromosomal Location

21185542-21210176 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 21194042 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Arginine at position 177 (Q177R)

Ref Sequence

ENSEMBL: ENSMUSP00000027992 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000027992]

AlphaFold

Q6SP97

Predicted Effect

probably benign
Transcript: ENSMUST00000027992
AA Change: Q177R

PolyPhen 2 Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000027992
Gene: ENSMUSG00000026679
AA Change: Q177R

Domain	Start	End	E-Value	Type
Pfam:Enkurin	152	248	6.3e-32	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000147793

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 protein that interacts with calmodulin and several transient receptor potential canonical cation channel proteins. The encoded protein may function as an adaptor to localize signal transduction machinery to calcium channels. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2012]
PHENOTYPE: Some mice homozygous for a knock-out allele exhibit situs invertus or ambiguus. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110038F14Rik	G	A	15: 76,834,475 (GRCm39)	V124I	probably damaging	Het
A330008L17Rik	T	C	8: 100,148,586 (GRCm39)		noncoding transcript	Het
Acp4	C	T	7: 43,902,876 (GRCm39)	V331I	probably benign	Het
Aen	G	A	7: 78,557,050 (GRCm39)	M299I	probably damaging	Het
Alg6	T	C	4: 99,629,807 (GRCm39)	V128A	probably benign	Het
Ank3	A	G	10: 69,686,026 (GRCm39)	K280E	probably damaging	Het
Bfar	T	C	16: 13,503,105 (GRCm39)	C36R	probably damaging	Het
Car14	A	G	3: 95,806,128 (GRCm39)	I311T	probably damaging	Het
Cd300c	T	C	11: 114,851,253 (GRCm39)		probably benign	Het
Cfap100	T	A	6: 90,383,096 (GRCm39)	E513V	probably damaging	Het
Clip1	C	A	5: 123,768,867 (GRCm39)	K612N	probably damaging	Het
Depdc5	A	G	5: 33,056,411 (GRCm39)		probably null	Het
Dock3	A	T	9: 106,959,572 (GRCm39)		probably null	Het
Dph6	A	T	2: 114,478,290 (GRCm39)	M17K	probably damaging	Het
Faap100	T	C	11: 120,262,958 (GRCm39)	H800R	probably damaging	Het
Fastkd2	T	G	1: 63,776,930 (GRCm39)		probably benign	Het
Fcgr2b	A	T	1: 170,795,622 (GRCm39)	N102K	possibly damaging	Het
Fezf1	C	T	6: 23,247,842 (GRCm39)	V78I	possibly damaging	Het
Fmn2	A	T	1: 174,330,885 (GRCm39)	D425V	unknown	Het
Fnta	G	A	8: 26,497,229 (GRCm39)	Q207*	probably null	Het
Fpr3	T	A	17: 18,190,828 (GRCm39)	V33D	probably benign	Het
Fshr	C	T	17: 89,292,821 (GRCm39)	C619Y	possibly damaging	Het
Gbp3	T	C	3: 142,272,358 (GRCm39)		probably null	Het
Gjb2	A	G	14: 57,337,629 (GRCm39)	V193A	possibly damaging	Het
Il4ra	A	G	7: 125,174,333 (GRCm39)	T292A	probably benign	Het
Lama5	A	G	2: 179,818,336 (GRCm39)		probably benign	Het
Marveld3	G	T	8: 110,688,596 (GRCm39)	D48E	possibly damaging	Het
Meox1	A	T	11: 101,784,599 (GRCm39)	I78N	probably benign	Het
Ncor1	A	T	11: 62,283,354 (GRCm39)	H444Q	probably damaging	Het
Ndst3	T	C	3: 123,340,466 (GRCm39)	Q784R	probably damaging	Het
Or10ag2	A	G	2: 87,248,714 (GRCm39)	I107M	probably benign	Het
Or4k44	T	A	2: 111,368,359 (GRCm39)	I92F	probably damaging	Het
Pld5	A	T	1: 176,102,445 (GRCm39)		probably benign	Het
Plk1	G	A	7: 121,768,148 (GRCm39)	R456H	probably damaging	Het
Polr2a	T	A	11: 69,638,840 (GRCm39)	I65F	possibly damaging	Het
Ptprd	T	A	4: 75,977,922 (GRCm39)	I196F	probably damaging	Het
Qsox2	T	C	2: 26,118,408 (GRCm39)	N121S	probably damaging	Het
Reln	A	G	5: 22,184,664 (GRCm39)	L1617S	probably damaging	Het
Rragc	T	C	4: 123,823,761 (GRCm39)	F345L	probably benign	Het
Sass6	A	T	3: 116,407,605 (GRCm39)	E240D	possibly damaging	Het
Shcbp1l	A	C	1: 153,311,770 (GRCm39)	S308R	possibly damaging	Het
Slc1a5	T	A	7: 16,520,804 (GRCm39)	C224*	probably null	Het
Slc27a5	T	C	7: 12,722,999 (GRCm39)	E567G	probably damaging	Het
Synj2	T	A	17: 6,088,201 (GRCm39)	N1417K	possibly damaging	Het
Tbc1d9	A	G	8: 83,960,791 (GRCm39)	T214A	probably damaging	Het
Tjp3	C	A	10: 81,109,699 (GRCm39)	V835L	probably benign	Het
Trpc4	C	A	3: 54,129,983 (GRCm39)	Q250K	probably benign	Het
Ttn	A	T	2: 76,575,506 (GRCm39)	I25129N	probably damaging	Het
Ube4a	T	A	9: 44,856,163 (GRCm39)	Y523F	probably damaging	Het
Zfp971	G	A	2: 177,665,175 (GRCm39)		probably null	Het

Other mutations in Enkur

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01475:Enkur	APN	2	21,201,530 (GRCm39)	missense	probably damaging	0.96
IGL02642:Enkur	APN	2	21,199,198 (GRCm39)	missense	probably benign	0.00
R0032:Enkur	UTSW	2	21,194,115 (GRCm39)	missense	probably benign
R0032:Enkur	UTSW	2	21,194,115 (GRCm39)	missense	probably benign
R1737:Enkur	UTSW	2	21,199,106 (GRCm39)	missense	probably damaging	1.00
R1851:Enkur	UTSW	2	21,193,988 (GRCm39)	missense	probably benign	0.10
R2221:Enkur	UTSW	2	21,194,130 (GRCm39)	splice site	probably benign
R5483:Enkur	UTSW	2	21,199,109 (GRCm39)	missense	probably benign
R7577:Enkur	UTSW	2	21,209,913 (GRCm39)	missense	probably benign	0.00
R8906:Enkur	UTSW	2	21,201,568 (GRCm39)	missense	probably benign
R9134:Enkur	UTSW	2	21,185,779 (GRCm39)	missense	probably benign
R9472:Enkur	UTSW	2	21,201,590 (GRCm39)	missense	possibly damaging	0.65
X0025:Enkur	UTSW	2	21,185,923 (GRCm39)	missense	probably damaging	1.00

Posted On

2013-06-21