Incidental Mutation 'R1326:Errfi1'
| ID |
157214 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Errfi1
|
| Ensembl Gene |
ENSMUSG00000028967 |
| Gene Name |
ERBB receptor feedback inhibitor 1 |
| Synonyms |
RALT, Mig-6, 1300002F13Rik |
| MMRRC Submission |
039392-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.309)
|
| Stock # |
R1326 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
4 |
| Chromosomal Location |
150938376-150953349 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 150949621 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 6
(V6A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000073285
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030811]
[ENSMUST00000073600]
|
| AlphaFold |
Q99JZ7 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000030811
AA Change: V6A
PolyPhen 2
Score 0.916 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000030811
Gene: ENSMUSG00000028967
AA Change: V6A
| 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 |
possibly damaging
Transcript: ENSMUST00000073600
AA Change: V6A
PolyPhen 2
Score 0.916 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000073285
Gene: ENSMUSG00000028967
AA Change: V6A
| 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 |
- 1x: 98.8%
- 3x: 97.8%
- 10x: 94.7%
- 20x: 87.6%
|
| 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: 24 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Arhgap5 |
G |
A |
12: 52,565,153 (GRCm39) |
S708N |
possibly damaging |
Het |
| Armc3 |
T |
C |
2: 19,314,935 (GRCm39) |
*882Q |
probably null |
Het |
| Atp13a3 |
G |
A |
16: 30,171,128 (GRCm39) |
L306F |
probably damaging |
Het |
| Cyp2d9 |
T |
C |
15: 82,339,357 (GRCm39) |
I130T |
possibly damaging |
Het |
| Ect2l |
C |
T |
10: 18,041,290 (GRCm39) |
R296H |
probably benign |
Het |
| Eomes |
C |
T |
9: 118,313,565 (GRCm39) |
Q518* |
probably null |
Het |
| Fezf2 |
T |
C |
14: 12,342,644 (GRCm38) |
N407S |
probably benign |
Het |
| Fpgs |
T |
C |
2: 32,582,592 (GRCm39) |
|
probably null |
Het |
| Fsbp |
A |
G |
4: 11,579,891 (GRCm39) |
Y53C |
probably damaging |
Het |
| Hspd1 |
T |
C |
1: 55,119,418 (GRCm39) |
|
probably null |
Het |
| Ifna7 |
A |
T |
4: 88,734,931 (GRCm39) |
E156V |
possibly damaging |
Het |
| Map1a |
C |
T |
2: 121,136,671 (GRCm39) |
Q2258* |
probably null |
Het |
| Mier2 |
A |
G |
10: 79,380,543 (GRCm39) |
F289S |
probably damaging |
Het |
| Mmp16 |
A |
G |
4: 18,054,517 (GRCm39) |
N341S |
possibly damaging |
Het |
| Moxd2 |
T |
C |
6: 40,857,288 (GRCm39) |
T491A |
probably benign |
Het |
| Narf |
T |
A |
11: 121,133,379 (GRCm39) |
L60Q |
probably damaging |
Het |
| Pa2g4 |
T |
C |
10: 128,395,142 (GRCm39) |
D341G |
probably benign |
Het |
| Parp1 |
T |
A |
1: 180,428,023 (GRCm39) |
V991D |
probably damaging |
Het |
| Rin2 |
C |
T |
2: 145,702,366 (GRCm39) |
T354I |
probably benign |
Het |
| Slc1a4 |
A |
G |
11: 20,282,159 (GRCm39) |
L105P |
probably damaging |
Het |
| Slc27a2 |
T |
A |
2: 126,406,690 (GRCm39) |
Y125N |
probably damaging |
Het |
| Sorl1 |
A |
G |
9: 41,943,092 (GRCm39) |
V928A |
probably benign |
Het |
| Spata31e2 |
G |
T |
1: 26,723,011 (GRCm39) |
P723H |
probably damaging |
Het |
| Usp31 |
G |
C |
7: 121,247,525 (GRCm39) |
S1306C |
probably damaging |
Het |
|
| Other mutations in Errfi1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01564:Errfi1
|
APN |
4 |
150,951,487 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02425:Errfi1
|
APN |
4 |
150,950,813 (GRCm39) |
missense |
probably benign |
0.01 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGTTGAGCAACTGGTAAGCTCTGC -3'
(R):5'- GCTGCCACTAGGTGTCAGACTATTG -3'
Sequencing Primer
(F):5'- CTGTGAAAAACCTTTCAAGTGTCAAG -3'
(R):5'- GAAATACTGCTTGCTTGAGGAC -3'
|
| Posted On |
2014-02-18 |
Incidental Mutation