Incidental Mutation 'R7520:Epsti1'
ID 605563
Institutional Source Beutler Lab
Gene Symbol Epsti1
Ensembl Gene ENSMUSG00000022014
Gene Name epithelial stromal interaction 1
Synonyms 5033415K03Rik, 2310046K10Rik, BRESI1
MMRRC Submission 045592-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.051) question?
Stock # R7520 (G1)
Quality Score 59.0076
Status Validated
Chromosome 14
Chromosomal Location 78141679-78240096 bp(+) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) A to T at 78200883 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000154502 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022591] [ENSMUST00000169978] [ENSMUST00000227903]
AlphaFold no structure available at present
Predicted Effect probably null
Transcript: ENSMUST00000022591
SMART Domains Protein: ENSMUSP00000022591
Gene: ENSMUSG00000022014

DomainStartEndE-ValueType
coiled coil region 111 180 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000169978
SMART Domains Protein: ENSMUSP00000130138
Gene: ENSMUSG00000022014

DomainStartEndE-ValueType
coiled coil region 111 180 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000227903
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.6%
Validation Efficiency 100% (50/50)
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: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aadacl4fm2 T C 4: 144,281,859 (GRCm39) Y311C probably damaging Het
Abca1 A T 4: 53,078,114 (GRCm39) I886N probably benign Het
Adamts6 A G 13: 104,433,694 (GRCm39) H41R probably benign Het
Adck1 T C 12: 88,425,975 (GRCm39) probably null Het
Atat1 G T 17: 36,208,706 (GRCm39) T398K probably benign Het
Bahcc1 A G 11: 120,167,031 (GRCm39) E1144G possibly damaging Het
Cand2 G T 6: 115,762,212 (GRCm39) E213* probably null Het
Cep350 A G 1: 155,791,375 (GRCm39) S1250P probably benign Het
Cln3 A G 7: 126,180,852 (GRCm39) L63P probably damaging Het
Col4a4 A T 1: 82,484,808 (GRCm39) C486* probably null Het
Ctnnal1 A T 4: 56,837,838 (GRCm39) M264K probably damaging Het
Ddr2 T A 1: 169,812,008 (GRCm39) D738V probably damaging Het
Dnah6 T C 6: 73,104,887 (GRCm39) M1901V probably benign Het
Dnhd1 A G 7: 105,345,255 (GRCm39) T2200A probably benign Het
Dolk A G 2: 30,174,555 (GRCm39) Y497H probably benign Het
Drd5 T C 5: 38,478,195 (GRCm39) V396A probably benign Het
Erich3 A G 3: 154,468,763 (GRCm39) T1072A unknown Het
Ero1a A T 14: 45,544,032 (GRCm39) N57K probably damaging Het
Exph5 T C 9: 53,278,514 (GRCm39) probably null Het
Frmd5 C T 2: 121,384,745 (GRCm39) probably null Het
H2-Q7 A G 17: 35,661,686 (GRCm39) T310A probably benign Het
Hecw2 G T 1: 53,965,215 (GRCm39) A537E probably benign Het
Itga4 A T 2: 79,131,333 (GRCm39) D567V probably damaging Het
Kcnu1 A T 8: 26,375,368 (GRCm39) N361Y probably damaging Het
Keap1 A G 9: 21,144,787 (GRCm39) S408P probably benign Het
Mamdc4 T A 2: 25,455,360 (GRCm39) I928F possibly damaging Het
Mboat4 T C 8: 34,591,028 (GRCm39) F155S probably benign Het
Mtbp A G 15: 55,440,742 (GRCm39) probably benign Het
Nmi T G 2: 51,842,492 (GRCm39) K200T probably benign Het
Or2n1e G A 17: 38,586,331 (GRCm39) C223Y probably benign Het
Or8g19 G T 9: 39,055,414 (GRCm39) R6L probably benign Het
Pcdha7 G A 18: 37,108,366 (GRCm39) V464M probably damaging Het
Peg10 T A 6: 4,756,796 (GRCm39) N457K unknown Het
Plekha7 A T 7: 115,736,519 (GRCm39) I944N possibly damaging Het
Plpp1 T A 13: 112,937,781 (GRCm39) D13E possibly damaging Het
Pnpla6 G T 8: 3,587,508 (GRCm39) V1070F probably damaging Het
Riox1 T A 12: 83,998,545 (GRCm39) Y360* probably null Het
Sdhb A G 4: 140,693,882 (GRCm39) D50G possibly damaging Het
Slc35f2 T A 9: 53,708,385 (GRCm39) V126D possibly damaging Het
Slmap A G 14: 26,148,575 (GRCm39) V612A probably benign Het
Snap91 T A 9: 86,721,702 (GRCm39) I46F probably damaging Het
Sp110 G A 1: 85,506,813 (GRCm39) R417C probably benign Het
Taar7b T C 10: 23,876,381 (GRCm39) L182P probably damaging Het
Tmc1 T A 19: 20,776,542 (GRCm39) M606L probably damaging Het
Trpm8 T A 1: 88,271,043 (GRCm39) D444E probably benign Het
Tsen54 A G 11: 115,711,797 (GRCm39) T405A probably damaging Het
Ttll5 T C 12: 85,946,245 (GRCm39) W492R probably damaging Het
Ttn T A 2: 76,728,123 (GRCm39) T5566S unknown Het
Utp20 A T 10: 88,654,457 (GRCm39) M210K probably damaging Het
Zfand1 A G 3: 10,411,009 (GRCm39) V115A probably damaging Het
Other mutations in Epsti1
AlleleSourceChrCoordTypePredicted EffectPPH 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
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
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'- TCAGGGATTAGTGTTCCTCAGGTC -3'
(R):5'- AGCTCAGCCGTTTTGCTACC -3'

Sequencing Primer
(F):5'- AGTGTTCCTCAGGTCTATAAGGAAG -3'
(R):5'- TTTGCTACCAGGAAAACAAATAGGTG -3'
Posted On 2019-12-18