Incidental Mutation 'IGL01787:Epsti1'
| ID |
155104 |
| 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)
|
| Stock # |
IGL01787
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
14 |
| Chromosomal Location |
78141679-78240096 bp(+) (GRCm39) |
| Type of Mutation |
critical splice donor site (2 bp from exon) |
| DNA Base Change (assembly) |
T to C
at 78210052 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000022591
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022591]
[ENSMUST00000022591]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably null
Transcript: ENSMUST00000022591
|
| SMART Domains |
Protein: ENSMUSP00000022591
Gene: ENSMUSG00000022014
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
111 |
180 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000022591
|
| SMART Domains |
Protein: ENSMUSP00000022591
Gene: ENSMUSG00000022014
| 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: 22 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ahctf1 |
A |
G |
1: 179,580,887 (GRCm39) |
S1772P |
probably benign |
Het |
| Cstdc3 |
T |
A |
16: 36,131,591 (GRCm39) |
Y34N |
probably damaging |
Het |
| Mtrr |
A |
T |
13: 68,719,266 (GRCm39) |
L325Q |
probably damaging |
Het |
| Neb |
T |
C |
2: 52,186,367 (GRCm39) |
K902E |
possibly damaging |
Het |
| Nfkbie |
T |
C |
17: 45,867,189 (GRCm39) |
L108P |
probably damaging |
Het |
| Or2n1d |
T |
A |
17: 38,646,470 (GRCm39) |
C141S |
probably damaging |
Het |
| Or4c52 |
A |
T |
2: 89,845,655 (GRCm39) |
Y127F |
probably damaging |
Het |
| Pcdh15 |
A |
G |
10: 74,286,115 (GRCm39) |
D712G |
probably benign |
Het |
| Polr3k |
T |
C |
2: 181,506,251 (GRCm39) |
|
probably benign |
Het |
| Shkbp1 |
A |
C |
7: 27,041,875 (GRCm39) |
F660V |
possibly damaging |
Het |
| Smchd1 |
T |
C |
17: 71,698,413 (GRCm39) |
D1121G |
probably damaging |
Het |
| Srgap3 |
A |
T |
6: 112,699,983 (GRCm39) |
D998E |
probably benign |
Het |
| Stab1 |
T |
C |
14: 30,861,765 (GRCm39) |
D14G |
probably damaging |
Het |
| Tap1 |
T |
C |
17: 34,415,578 (GRCm39) |
S641P |
probably benign |
Het |
| Tgm3 |
C |
T |
2: 129,889,660 (GRCm39) |
S618F |
possibly damaging |
Het |
| Tgm6 |
T |
C |
2: 129,993,354 (GRCm39) |
|
probably benign |
Het |
| Tmco5 |
A |
T |
2: 116,717,781 (GRCm39) |
E194D |
probably damaging |
Het |
| Treml4 |
T |
A |
17: 48,571,732 (GRCm39) |
V45E |
probably damaging |
Het |
| Uggt2 |
A |
T |
14: 119,319,146 (GRCm39) |
M292K |
probably damaging |
Het |
| Usp5 |
A |
T |
6: 124,801,189 (GRCm39) |
D179E |
possibly damaging |
Het |
| Ythdf1 |
A |
G |
2: 180,553,486 (GRCm39) |
L216P |
probably damaging |
Het |
| Zfp948 |
C |
T |
17: 21,807,333 (GRCm39) |
A175V |
probably benign |
Het |
|
| Other mutations in Epsti1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
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 |
2014-02-04 |
Incidental Mutation