Incidental Mutation 'R0743:Epsti1'
ID 70803
Institutional Source Beutler Lab
Gene Symbol Epsti1
Ensembl Gene ENSMUSG00000022014
Gene Name epithelial stromal interaction 1
Synonyms 5033415K03Rik, 2310046K10Rik, BRESI1
MMRRC Submission 038924-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.056) question?
Stock # R0743 (G1)
Quality Score 225
Status Not validated
Chromosome 14
Chromosomal Location 78141679-78240096 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 78168715 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Serine at position 117 (R117S)
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 damaging
Transcript: ENSMUST00000022591
AA Change: R117S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000022591
Gene: ENSMUSG00000022014
AA Change: R117S

DomainStartEndE-ValueType
coiled coil region 111 180 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000169978
AA Change: R117S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000130138
Gene: ENSMUSG00000022014
AA Change: R117S

DomainStartEndE-ValueType
coiled coil region 111 180 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000227903
AA Change: R117S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 96.7%
  • 20x: 92.7%
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: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc4 A T 14: 118,790,700 (GRCm39) I844N possibly damaging Het
Bend7 A T 2: 4,749,055 (GRCm39) K57N probably damaging Het
Cacna2d4 C T 6: 119,284,247 (GRCm39) R745W probably damaging Het
Cfap91 A G 16: 38,155,996 (GRCm39) F76L probably damaging Het
Csmd2 A T 4: 128,007,469 (GRCm39) T149S probably benign Het
Cyp2a12 T C 7: 26,731,967 (GRCm39) I236T probably benign Het
Dennd2b A G 7: 109,156,552 (GRCm39) L66P probably damaging Het
Dnase1l2 A G 17: 24,660,854 (GRCm39) V170A possibly damaging Het
Dnm2 T A 9: 21,411,561 (GRCm39) Y597N probably damaging Het
Gabarapl2 A T 8: 112,669,137 (GRCm39) I32F probably damaging Het
Glrb T A 3: 80,786,987 (GRCm39) I59F probably damaging Het
Gosr1 A G 11: 76,620,972 (GRCm39) I239T probably benign Het
Kif5b G T 18: 6,209,192 (GRCm39) R857S probably damaging Het
Kmt5a C A 5: 124,585,282 (GRCm39) N44K probably damaging Het
Ksr1 A T 11: 78,912,329 (GRCm39) H675Q possibly damaging Het
Mep1b A G 18: 21,213,515 (GRCm39) D68G possibly damaging Het
Nebl A C 2: 17,415,929 (GRCm39) S327A probably benign Het
Nfat5 G A 8: 108,094,698 (GRCm39) E962K probably damaging Het
Nfatc4 A C 14: 56,064,101 (GRCm39) D126A probably damaging Het
Nmt2 A T 2: 3,315,822 (GRCm39) R271* probably null Het
Nol7 G A 13: 43,554,091 (GRCm39) V133I probably benign Het
Npepps A G 11: 97,096,884 (GRCm39) probably benign Het
Nphp3 GCATCATCATCATCATC GCATCATCATCATC 9: 103,899,967 (GRCm39) probably benign Het
Or1e1c A T 11: 73,265,715 (GRCm39) I47F probably benign Het
Or51ag1 C T 7: 103,156,069 (GRCm39) W28* probably null Het
Or6c66 T A 10: 129,461,712 (GRCm39) T73S probably benign Het
Or8h10 G A 2: 86,808,843 (GRCm39) T99I probably benign Het
Ovgp1 T A 3: 105,882,248 (GRCm39) L37H probably damaging Het
Padi3 G T 4: 140,513,740 (GRCm39) A646D probably benign Het
Pamr1 A G 2: 102,440,252 (GRCm39) E142G probably damaging Het
Papolg A T 11: 23,820,818 (GRCm39) probably null Het
Pate8 T C 9: 36,492,597 (GRCm39) S103G probably benign Het
Pfkl C T 10: 77,831,077 (GRCm39) probably null Het
Plrg1 T C 3: 82,967,224 (GRCm39) S132P probably benign Het
Pramel23 A T 4: 143,425,134 (GRCm39) I103N probably damaging Het
Prr14l C A 5: 32,988,538 (GRCm39) C319F possibly damaging Het
Prtn3 T A 10: 79,715,511 (GRCm39) M1K probably null Het
Ptpn22 T C 3: 103,809,487 (GRCm39) F700S probably damaging Het
Ptprz1 C T 6: 23,044,366 (GRCm39) Q1273* probably null Het
Rif1 GCCACCA GCCA 2: 52,000,336 (GRCm39) probably benign Het
Ryr2 T C 13: 11,569,415 (GRCm39) D4963G probably damaging Het
Sec16a G A 2: 26,309,734 (GRCm39) L2091F possibly damaging Het
Senp6 C T 9: 80,000,871 (GRCm39) R27C probably damaging Het
Shcbp1 T A 8: 4,814,906 (GRCm39) M191L probably benign Het
Sirt4 T C 5: 115,621,014 (GRCm39) K53E probably benign Het
Slc10a2 A G 8: 5,139,132 (GRCm39) S271P probably damaging Het
Slc35b2 T A 17: 45,877,751 (GRCm39) F293I probably damaging Het
Slc38a10 C T 11: 120,031,469 (GRCm39) V103M probably damaging Het
Stab2 T A 10: 86,723,759 (GRCm39) I1479F probably damaging Het
Synpo2 A G 3: 122,906,355 (GRCm39) V987A probably benign Het
Syt9 A G 7: 107,035,768 (GRCm39) I262V probably damaging Het
Taf2 GCTTCTTCTTCTTCTTCTT GCTTCTTCTTCTTCTT 15: 54,879,857 (GRCm39) probably benign Het
Tmem39a A T 16: 38,405,764 (GRCm39) I200F probably damaging Het
Ttn G A 2: 76,579,613 (GRCm39) T23760M probably damaging Het
Uqcrc1 C T 9: 108,773,773 (GRCm39) Q22* probably null Het
Wdtc1 A G 4: 133,027,972 (GRCm39) W377R probably damaging Het
Zfp454 A G 11: 50,764,764 (GRCm39) S223P probably benign 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
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
Predicted Primers PCR Primer
(F):5'- GACCGGCTATATTCCAATGTCCAGG -3'
(R):5'- GCATAGCACACATGGCTAGGGTAAG -3'

Sequencing Primer
(F):5'- CCAATGTCCAGGTGTATAAAAAACTC -3'
(R):5'- ACTTCTCACTGTCTAGCAATTTTC -3'
Posted On 2013-09-30