Mutagenetix > Incidental Mutation

Incidental Mutation 'R5664:Epsti1'

444292

Institutional Source

Beutler Lab

Gene Symbol

Epsti1

Ensembl Gene

ENSMUSG00000022014

Gene Name

epithelial stromal interaction 1

Synonyms

5033415K03Rik, 2310046K10Rik, BRESI1

MMRRC Submission

043307-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.056) question?

Stock #

R5664 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

78141679-78240096 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 78201104 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 196 (T196I)

Ref Sequence

ENSEMBL: ENSMUSP00000154502 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000022591] [ENSMUST00000169978] [ENSMUST00000227903]

AlphaFold

no structure available at present

Predicted Effect

possibly damaging
Transcript: ENSMUST00000022591
AA Change: T196I

PolyPhen 2 Score 0.731 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000022591
Gene: ENSMUSG00000022014
AA Change: T196I

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000169978
AA Change: T196I

PolyPhen 2 Score 0.731 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000130138
Gene: ENSMUSG00000022014
AA Change: T196I

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000227903
AA Change: T196I

PolyPhen 2 Score 0.731 (Sensitivity: 0.86; Specificity: 0.92)

Coding Region Coverage

1x: 99.4%
3x: 98.8%
10x: 97.6%
20x: 96.0%

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: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
0610030E20Rik	T	A	6: 72,325,977 (GRCm39)		probably null	Het
9430015G10Rik	T	A	4: 156,208,016 (GRCm39)	L112H	probably damaging	Het
Acaca	T	C	11: 84,134,210 (GRCm39)	L441P	probably damaging	Het
Ank3	G	A	10: 69,838,395 (GRCm39)	R1566K	possibly damaging	Het
Arsj	A	T	3: 126,232,306 (GRCm39)	I351F	probably damaging	Het
Atp6v1b2	A	G	8: 69,560,272 (GRCm39)	T373A	probably damaging	Het
Atr	C	A	9: 95,787,866 (GRCm39)	N1486K	probably benign	Het
Avl9	T	C	6: 56,730,824 (GRCm39)	S583P	probably damaging	Het
Bptf	A	T	11: 106,964,525 (GRCm39)	D1493E	probably benign	Het
Brme1	A	T	8: 84,893,288 (GRCm39)	I152F	probably benign	Het
C2cd2l	T	C	9: 44,225,069 (GRCm39)	E548G	probably damaging	Het
Capn3	G	A	2: 120,307,506 (GRCm39)	R15Q	probably benign	Het
Ccl3	A	G	11: 83,540,039 (GRCm39)	F22S	probably benign	Het
Clcf1	T	C	19: 4,272,150 (GRCm39)	F69S	probably damaging	Het
Col13a1	T	C	10: 61,686,895 (GRCm39)	E170G	probably damaging	Het
Dhx29	T	A	13: 113,083,413 (GRCm39)	F489L	probably damaging	Het
Dhx8	A	T	11: 101,631,577 (GRCm39)	N390I	probably damaging	Het
Dkk1	T	A	19: 30,526,189 (GRCm39)	Y135F	probably benign	Het
Edil3	G	T	13: 89,467,832 (GRCm39)	V446F	probably damaging	Het
Epha5	T	A	5: 84,479,725 (GRCm39)	E93V	probably damaging	Het
Fras1	T	C	5: 96,876,394 (GRCm39)	S2376P	possibly damaging	Het
Frem2	A	G	3: 53,559,911 (GRCm39)	V1532A	probably benign	Het
Fsip2	T	A	2: 82,818,439 (GRCm39)	M4724K	probably benign	Het
Gcat	T	A	15: 78,927,273 (GRCm39)	L238Q	probably damaging	Het
Gimap6	T	C	6: 48,679,209 (GRCm39)	K276E	probably benign	Het
Gjb5	T	A	4: 127,249,722 (GRCm39)	I141F	probably benign	Het
Glt6d1	T	C	2: 25,704,192 (GRCm39)	I7V	probably benign	Het
Gtf2h5	G	A	17: 6,134,799 (GRCm39)	G30R	probably damaging	Het
Herc6	C	A	6: 57,595,669 (GRCm39)	T449K	probably benign	Het
Hpn	A	T	7: 30,798,687 (GRCm39)	Y132N	probably damaging	Het
Hpx	A	T	7: 105,244,355 (GRCm39)	M190K	probably benign	Het
Inf2	A	G	12: 112,578,162 (GRCm39)	H1151R	unknown	Het
Krt74	A	G	15: 101,669,014 (GRCm39)		noncoding transcript	Het
Loxl3	G	A	6: 83,026,863 (GRCm39)	S564N	probably benign	Het
Map7	T	A	10: 20,143,105 (GRCm39)	V418E	unknown	Het
Mrpl37	T	C	4: 106,921,588 (GRCm39)	N214D	probably benign	Het
Mthfr	T	C	4: 148,139,923 (GRCm39)	Y656H	probably damaging	Het
Myo9b	A	G	8: 71,812,526 (GRCm39)	D2099G	probably benign	Het
Nktr	T	A	9: 121,578,483 (GRCm39)	C825*	probably null	Het
Nomo1	A	G	7: 45,725,581 (GRCm39)	E1029G	probably benign	Het
Nup133	T	C	8: 124,633,020 (GRCm39)	D1037G	probably benign	Het
Or4b12	A	G	2: 90,095,959 (GRCm39)	F272L	probably damaging	Het
Or5w22	T	C	2: 87,363,178 (GRCm39)	L267P	probably benign	Het
Pcdhb14	T	A	18: 37,582,049 (GRCm39)	V385D	possibly damaging	Het
Pik3c2g	T	C	6: 139,682,733 (GRCm39)	L38P	probably damaging	Het
Pkd1	A	T	17: 24,788,345 (GRCm39)	D701V	probably damaging	Het
Pnpla6	A	G	8: 3,587,478 (GRCm39)	T1070A	probably damaging	Het
Ppl	T	C	16: 4,923,919 (GRCm39)	D185G	probably benign	Het
Prp2rt	C	A	13: 97,235,629 (GRCm39)	L39F	probably damaging	Het
Prss1l	C	T	6: 41,371,605 (GRCm39)	P17L	probably benign	Het
Prune1	A	T	3: 95,165,489 (GRCm39)	L261Q	probably damaging	Het
Qser1	A	T	2: 104,608,541 (GRCm39)	L1444I	probably damaging	Het
Serpina6	A	C	12: 103,620,726 (GRCm39)	C8G	probably damaging	Het
Sla2	A	T	2: 156,716,919 (GRCm39)	D180E	probably benign	Het
Slc4a4	C	T	5: 89,176,103 (GRCm39)	L25F	probably damaging	Het
Snhg16	A	T	11: 116,563,490 (GRCm39)	T27S	possibly damaging	Het
Tbx3	A	G	5: 119,816,796 (GRCm39)	K311R	possibly damaging	Het
Tdpoz6	A	G	3: 93,599,994 (GRCm39)	F125S	probably benign	Het
Thbs2	A	T	17: 14,910,099 (GRCm39)	C167S	probably damaging	Het
Trak1	T	A	9: 121,301,373 (GRCm39)	C710S	possibly damaging	Het
Tsks	G	A	7: 44,603,208 (GRCm39)	E337K	probably damaging	Het
Vcpip1	A	G	1: 9,816,604 (GRCm39)	I593T	probably damaging	Het
Vmn2r118	A	G	17: 55,899,765 (GRCm39)	I713T	possibly damaging	Het
Vmn2r23	C	T	6: 123,690,033 (GRCm39)	T303M	probably damaging	Het
Vmn2r68	A	T	7: 84,882,978 (GRCm39)	M258K	probably benign	Het
Vmn2r76	A	G	7: 85,895,202 (GRCm39)		probably null	Het
Wap	A	G	11: 6,588,609 (GRCm39)	I5T	possibly damaging	Het
Zfp235	A	C	7: 23,841,576 (GRCm39)	H665P	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
IGL03031:Epsti1	APN	14	78,212,021 (GRCm39)	missense	probably benign	0.00
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
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

Predicted Primers

PCR Primer
(F):5'- ACGCTCTTCAAGATGCAGCC -3'
(R):5'- GGGGCAGAGTCTCAGATGATTC -3'

Sequencing Primer
(F):5'- CAGCCCTGAAAAACCACTTAGTTTTG -3'
(R):5'- AGATGATTCTGTGCTATGTCTGTCAC -3'

Posted On

2016-11-09