Incidental Mutation 'IGL01564:Errfi1'
| ID |
90937 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Errfi1
|
| Ensembl Gene |
ENSMUSG00000028967 |
| Gene Name |
ERBB receptor feedback inhibitor 1 |
| Synonyms |
RALT, Mig-6, 1300002F13Rik |
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.252)
|
| Stock # |
IGL01564
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
4 |
| Chromosomal Location |
150938376-150953349 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 150951487 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Asparagine
at position 305
(T305N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000073285
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030811]
[ENSMUST00000073600]
|
| AlphaFold |
Q99JZ7 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000030811
AA Change: T305N
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000030811
Gene: ENSMUSG00000028967
AA Change: T305N
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:GTPase_binding
|
4 |
67 |
5.5e-40 |
PFAM |
|
low complexity region
|
171 |
186 |
N/A |
INTRINSIC |
|
low complexity region
|
227 |
241 |
N/A |
INTRINSIC |
|
low complexity region
|
279 |
295 |
N/A |
INTRINSIC |
|
Pfam:Inhibitor_Mig-6
|
314 |
370 |
9.5e-18 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000073600
AA Change: T305N
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000073285
Gene: ENSMUSG00000028967
AA Change: T305N
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:GTPase_binding
|
4 |
67 |
4.1e-36 |
PFAM |
|
low complexity region
|
171 |
186 |
N/A |
INTRINSIC |
|
low complexity region
|
227 |
241 |
N/A |
INTRINSIC |
|
low complexity region
|
279 |
295 |
N/A |
INTRINSIC |
|
Pfam:Inhibitor_Mig-6
|
314 |
371 |
6.2e-28 |
PFAM |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] ERRFI1 is a cytoplasmic protein whose expression is upregulated with cell growth (Wick et al., 1995 [PubMed 7641805]). It shares significant homology with the protein product of rat gene-33, which is induced during cell stress and mediates cell signaling (Makkinje et al., 2000 [PubMed 10749885]; Fiorentino et al., 2000 [PubMed 11003669]).[supplied by OMIM, Mar 2008]
PHENOTYPE: Homozygous inactivation of this gene may lead to premature death, delayed eyelid opening, epidermal hyperplasia, degenerative joint disease, skin or lung cancer, gastrointestinal tract tumors, increased susceptibility to chemically-induced tumors, and impaired lung development and vascularization. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adat3 |
T |
A |
10: 80,442,693 (GRCm39) |
M177K |
probably damaging |
Het |
| Ankrd28 |
G |
T |
14: 31,477,724 (GRCm39) |
T48K |
probably damaging |
Het |
| Capn3 |
T |
C |
2: 120,311,189 (GRCm39) |
I112T |
probably damaging |
Het |
| Clec3a |
T |
A |
8: 115,152,282 (GRCm39) |
I96N |
probably damaging |
Het |
| Clic4 |
C |
T |
4: 134,944,504 (GRCm39) |
A224T |
probably damaging |
Het |
| Eif2b3 |
T |
C |
4: 116,885,739 (GRCm39) |
Y94H |
probably benign |
Het |
| Ep300 |
A |
T |
15: 81,516,665 (GRCm39) |
|
probably benign |
Het |
| Fam131c |
T |
A |
4: 141,106,984 (GRCm39) |
|
probably null |
Het |
| Fbxo11 |
G |
A |
17: 88,310,324 (GRCm39) |
T494I |
probably benign |
Het |
| Homer2 |
T |
C |
7: 81,268,320 (GRCm39) |
|
probably null |
Het |
| Hpf1 |
C |
A |
8: 61,343,513 (GRCm39) |
|
probably benign |
Het |
| Hspa1b |
T |
C |
17: 35,176,525 (GRCm39) |
N487D |
probably benign |
Het |
| Ikbke |
C |
A |
1: 131,185,658 (GRCm39) |
A617S |
probably benign |
Het |
| Jade1 |
G |
T |
3: 41,551,084 (GRCm39) |
R174S |
possibly damaging |
Het |
| Lcmt1 |
T |
C |
7: 123,003,663 (GRCm39) |
F139S |
probably benign |
Het |
| Lipo2 |
T |
C |
19: 33,698,424 (GRCm39) |
T318A |
probably benign |
Het |
| Lrp1b |
C |
T |
2: 40,567,498 (GRCm39) |
|
probably benign |
Het |
| Lsm14a |
T |
C |
7: 34,088,780 (GRCm39) |
|
probably benign |
Het |
| Mpp2 |
T |
C |
11: 101,952,345 (GRCm39) |
D393G |
probably benign |
Het |
| Nfyb |
T |
C |
10: 82,588,260 (GRCm39) |
Y137C |
probably damaging |
Het |
| Or10g1 |
T |
C |
14: 52,648,299 (GRCm39) |
D10G |
probably benign |
Het |
| Or5d35 |
A |
T |
2: 87,855,648 (GRCm39) |
H194L |
probably benign |
Het |
| Or5p55 |
T |
C |
7: 107,567,198 (GRCm39) |
I198T |
probably benign |
Het |
| Scn3a |
A |
C |
2: 65,291,790 (GRCm39) |
I1652S |
probably damaging |
Het |
| Slc33a1 |
C |
T |
3: 63,850,768 (GRCm39) |
V519I |
probably benign |
Het |
| Strada |
G |
T |
11: 106,064,118 (GRCm39) |
N66K |
probably damaging |
Het |
| Thoc2l |
A |
T |
5: 104,668,529 (GRCm39) |
Y1017F |
probably benign |
Het |
| Tlr1 |
T |
A |
5: 65,083,189 (GRCm39) |
I463F |
probably damaging |
Het |
| Tnfrsf19 |
G |
T |
14: 61,212,058 (GRCm39) |
F197L |
possibly damaging |
Het |
| Tph1 |
T |
A |
7: 46,300,305 (GRCm39) |
|
probably benign |
Het |
| Ttn |
A |
T |
2: 76,646,922 (GRCm39) |
L3287H |
probably damaging |
Het |
| Vmn2r18 |
A |
T |
5: 151,508,633 (GRCm39) |
S164T |
possibly damaging |
Het |
| Zan |
C |
T |
5: 137,444,995 (GRCm39) |
V1755I |
unknown |
Het |
| Zmym4 |
T |
C |
4: 126,805,073 (GRCm39) |
I396V |
possibly damaging |
Het |
|
| Other mutations in Errfi1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02425:Errfi1
|
APN |
4 |
150,950,813 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1326:Errfi1
|
UTSW |
4 |
150,949,621 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R1530:Errfi1
|
UTSW |
4 |
150,949,843 (GRCm39) |
missense |
probably benign |
0.36 |
|
R3162:Errfi1
|
UTSW |
4 |
150,951,816 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3162:Errfi1
|
UTSW |
4 |
150,951,816 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4720:Errfi1
|
UTSW |
4 |
150,951,204 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6916:Errfi1
|
UTSW |
4 |
150,951,930 (GRCm39) |
nonsense |
probably null |
|
|
R7099:Errfi1
|
UTSW |
4 |
150,951,225 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7447:Errfi1
|
UTSW |
4 |
150,951,108 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8042:Errfi1
|
UTSW |
4 |
150,950,914 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
| Posted On |
2013-12-09 |
Incidental Mutation