Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03031:Epsti1'

408449

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Epsti1

Ensembl Gene

ENSMUSG00000022014

Gene Name

epithelial stromal interaction 1

Synonyms

5033415K03Rik, 2310046K10Rik, BRESI1

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.051) question?

Stock #

IGL03031

Quality Score

Status

Chromosome

Chromosomal Location

78141679-78240096 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 78212021 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Lysine at position 249 (R249K)

Ref Sequence

ENSEMBL: ENSMUSP00000022591 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000022591]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000022591
AA Change: R249K

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

SMART Domains

Protein: ENSMUSP00000022591
Gene: ENSMUSG00000022014
AA Change: R249K

Domain	Start	End	E-Value	Type
coiled coil region	111	180	N/A	INTRINSIC

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene has been shown to promote tumor invasion and metastasis in some invasive cancer cells when overexpressed. Expression of this gene has been shown to be upregulated by direct binding of the Kruppel like factor 8 protein to promoter sequences. The translated protein interacts with the amino terminal region of the valosin containing protein gene product, resulting in the nuclear translocation of the nuclear factor kappa B subunit 1 gene product, and activation of target genes. Overexpression of this gene has been observed in some breast cancers and in some individuals with systemic lupus erythematosus (SLE). [provided by RefSeq, Sep 2016]

Allele List at MGI

Other mutations in this stock

Total: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca12	T	C	1: 71,353,183 (GRCm39)	D753G	probably benign	Het
Adat2	T	C	10: 13,432,590 (GRCm39)		probably benign	Het
Ahsa2	A	G	11: 23,440,426 (GRCm39)	L275S	probably benign	Het
Arhgef38	C	T	3: 132,837,828 (GRCm39)	D118N	possibly damaging	Het
Bicra	A	T	7: 15,709,726 (GRCm39)	H1097Q	probably benign	Het
C4b	T	C	17: 34,950,104 (GRCm39)	T1389A	possibly damaging	Het
Cd180	A	G	13: 102,841,535 (GRCm39)	S194G	probably benign	Het
Chgb	C	A	2: 132,635,434 (GRCm39)	Q459K	probably benign	Het
Clvs1	G	T	4: 9,449,385 (GRCm39)		probably benign	Het
Cpox	G	A	16: 58,492,923 (GRCm39)	G186R	probably damaging	Het
Cul5	A	G	9: 53,553,975 (GRCm39)		probably benign	Het
Gabrg1	A	T	5: 70,952,025 (GRCm39)	Y90*	probably null	Het
Gabrp	T	C	11: 33,504,980 (GRCm39)	R274G	probably damaging	Het
Gm6401	C	T	14: 41,788,851 (GRCm39)	E73K	possibly damaging	Het
Hectd4	C	T	5: 121,486,857 (GRCm39)	T3284M	possibly damaging	Het
Hoxc9	T	C	15: 102,892,522 (GRCm39)	M245T	probably damaging	Het
Lpar6	T	C	14: 73,476,882 (GRCm39)	V281A	possibly damaging	Het
Med18	G	T	4: 132,186,924 (GRCm39)	Q192K	possibly damaging	Het
Mis18bp1	A	G	12: 65,208,704 (GRCm39)	V3A	probably benign	Het
Mpped2	G	T	2: 106,613,968 (GRCm39)		probably benign	Het
Ms4a10	A	G	19: 10,946,035 (GRCm39)	V32A	probably benign	Het
Mthfd1l	T	A	10: 3,968,601 (GRCm39)		probably null	Het
Myh1	A	T	11: 67,097,213 (GRCm39)	Q422L	possibly damaging	Het
Myo3b	A	T	2: 70,085,721 (GRCm39)	Q819L	possibly damaging	Het
Ncoa1	G	A	12: 4,324,818 (GRCm39)	T921I	possibly damaging	Het
Or10d4b	A	G	9: 39,534,694 (GRCm39)	I92V	probably damaging	Het
Or6c214	A	G	10: 129,591,238 (GRCm39)	L27P	possibly damaging	Het
Or8c16	A	C	9: 38,130,361 (GRCm39)	T81P	probably damaging	Het
Phf3	A	G	1: 30,843,734 (GRCm39)	S1742P	probably benign	Het
Plxdc2	G	A	2: 16,655,043 (GRCm39)		probably null	Het
Poc5	A	G	13: 96,538,123 (GRCm39)	T263A	probably benign	Het
Prss41	T	A	17: 24,061,396 (GRCm39)	I132F	probably damaging	Het
Pxylp1	A	G	9: 96,707,195 (GRCm39)	I329T	probably benign	Het
Rbm27	T	C	18: 42,466,464 (GRCm39)		probably null	Het
Rnps1-ps	T	C	6: 7,982,857 (GRCm39)		noncoding transcript	Het
Rpgrip1l	A	T	8: 91,987,411 (GRCm39)	V882E	probably damaging	Het
Sec16b	T	C	1: 157,388,369 (GRCm39)	S579P	probably benign	Het
Senp7	A	G	16: 55,996,249 (GRCm39)	E776G	probably damaging	Het
Smc2	A	G	4: 52,449,638 (GRCm39)	I207V	probably benign	Het
Spata31e5	A	G	1: 28,817,664 (GRCm39)	F123L	probably benign	Het
Spats2	A	G	15: 99,078,569 (GRCm39)	T211A	probably benign	Het
Sphkap	A	T	1: 83,254,552 (GRCm39)	S779T	probably damaging	Het
Syt11	A	T	3: 88,656,148 (GRCm39)	M1K	probably null	Het
Tacc2	A	G	7: 130,225,585 (GRCm39)	T757A	possibly damaging	Het
Tecta	A	C	9: 42,256,789 (GRCm39)	M1629R	probably benign	Het
Ufsp2	T	A	8: 46,437,137 (GRCm39)	I101N	probably damaging	Het
Unc13b	T	A	4: 43,235,368 (GRCm39)	C892S	probably damaging	Het
Ush1c	A	G	7: 45,874,361 (GRCm39)		probably benign	Het
Vwde	A	T	6: 13,208,381 (GRCm39)	V167E	probably benign	Het
Wdfy4	A	G	14: 32,862,608 (GRCm39)	L588P	probably damaging	Het
Zfyve1	T	C	12: 83,621,595 (GRCm39)	T267A	probably damaging	Het

Other mutations in Epsti1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01787:Epsti1	APN	14	78,210,052 (GRCm39)	critical splice donor site	probably null
IGL02749:Epsti1	APN	14	78,177,363 (GRCm39)	missense	probably damaging	1.00
R0302:Epsti1	UTSW	14	78,177,366 (GRCm39)	missense	probably damaging	0.97
R0605:Epsti1	UTSW	14	78,164,677 (GRCm39)	splice site	probably benign
R0743:Epsti1	UTSW	14	78,168,715 (GRCm39)	missense	probably damaging	1.00
R0884:Epsti1	UTSW	14	78,168,715 (GRCm39)	missense	probably damaging	1.00
R1986:Epsti1	UTSW	14	78,169,673 (GRCm39)	critical splice donor site	probably null
R3162:Epsti1	UTSW	14	78,211,953 (GRCm39)	splice site	probably benign
R5118:Epsti1	UTSW	14	78,224,122 (GRCm39)	splice site	probably null
R5296:Epsti1	UTSW	14	78,142,090 (GRCm39)	missense	probably benign	0.03
R5392:Epsti1	UTSW	14	78,224,184 (GRCm39)	missense	probably benign	0.00
R5664:Epsti1	UTSW	14	78,201,104 (GRCm39)	missense	possibly damaging	0.73
R5948:Epsti1	UTSW	14	78,177,330 (GRCm39)	missense	probably damaging	1.00
R6402:Epsti1	UTSW	14	78,177,318 (GRCm39)	missense	probably damaging	0.98
R7494:Epsti1	UTSW	14	78,166,194 (GRCm39)	missense	probably benign	0.10
R7520:Epsti1	UTSW	14	78,200,883 (GRCm39)	splice site	probably null
R7671:Epsti1	UTSW	14	78,141,930 (GRCm39)	missense	probably damaging	1.00
R8039:Epsti1	UTSW	14	78,168,741 (GRCm39)	missense	probably damaging	0.96

Posted On

2016-08-02