Incidental Mutation 'IGL03014:Efemp1'
| ID |
453325 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Efemp1
|
| Ensembl Gene |
ENSMUSG00000020467 |
| Gene Name |
epidermal growth factor-containing fibulin-like extracellular matrix protein 1 |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL03014 (G1)
|
| Quality Score |
185 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
28803204-28876743 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 28876218 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Cysteine
at position 461
(Y461C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000020759
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020759]
|
| AlphaFold |
Q8BPB5 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000020759
AA Change: Y461C
PolyPhen 2
Score 0.960 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000020759
Gene: ENSMUSG00000020467
AA Change: Y461C
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
17 |
N/A |
INTRINSIC |
|
EGF_like
|
44 |
76 |
9.53e-2 |
SMART |
|
low complexity region
|
87 |
104 |
N/A |
INTRINSIC |
|
EGF_CA
|
173 |
213 |
5.78e-11 |
SMART |
|
EGF_CA
|
214 |
253 |
2.35e-11 |
SMART |
|
EGF_CA
|
254 |
293 |
1.22e-9 |
SMART |
|
EGF_CA
|
294 |
333 |
1.35e-11 |
SMART |
|
EGF_like
|
334 |
378 |
3.49e-3 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000124103
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000139713
AA Change: Y165C
|
| SMART Domains |
Protein: ENSMUSP00000114757
Gene: ENSMUSG00000020467
AA Change: Y165C
| Domain | Start | End | E-Value | Type |
|---|
|
EGF
|
2 |
38 |
6.86e-4 |
SMART |
|
EGF_like
|
39 |
83 |
3.49e-3 |
SMART |
|
| Meta Mutation Damage Score |
0.6467 |
| Coding Region Coverage |
- 1x: 0.0%
- 3x: 0.0%
- 10x: 0.0%
- 20x: 0.0%
|
| Validation Efficiency |
96% (51/53) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the fibulin family of extracellular matrix glycoproteins. Like all members of this family, the encoded protein contains tandemly repeated epidermal growth factor-like repeats followed by a C-terminus fibulin-type domain. This gene is upregulated in malignant gliomas and may play a role in the aggressive nature of these tumors. Mutations in this gene are associated with Doyne honeycomb retinal dystrophy. Alternatively spliced transcript variants that encode the same protein have been described.[provided by RefSeq, Nov 2009]
PHENOTYPE: Mice homozygous for disruptions in this gene display a normal phenotype. Mice homozygous for a single amino acid substitution develop deposits below the retinal pigment epithelium. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 49 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4933416I08Rik |
TCC |
TCCC |
X: 52,692,862 (GRCm39) |
|
noncoding transcript |
Het |
| AW112010 |
A |
G |
19: 11,025,456 (GRCm39) |
|
noncoding transcript |
Het |
| Ccdc134 |
T |
C |
15: 82,014,306 (GRCm39) |
L13P |
probably damaging |
Het |
| Ccdc150 |
G |
T |
1: 54,329,861 (GRCm39) |
V395F |
probably damaging |
Het |
| Cdh22 |
G |
T |
2: 164,954,331 (GRCm39) |
S730* |
probably null |
Het |
| Cfap20dc |
A |
G |
14: 8,431,608 (GRCm38) |
*675Q |
probably null |
Het |
| Chrng |
G |
T |
1: 87,138,759 (GRCm39) |
|
probably null |
Het |
| Cilp |
TGGG |
TGG |
9: 65,187,412 (GRCm39) |
|
probably null |
Het |
| Crb1 |
CG |
C |
1: 139,164,824 (GRCm39) |
|
probably null |
Het |
| Csmd2 |
G |
T |
4: 128,190,222 (GRCm39) |
M387I |
probably benign |
Het |
| Cux1 |
T |
C |
5: 136,594,379 (GRCm39) |
|
probably benign |
Het |
| D130043K22Rik |
C |
T |
13: 25,042,075 (GRCm39) |
P335S |
possibly damaging |
Het |
| Dctn1 |
A |
G |
6: 83,174,351 (GRCm39) |
|
probably benign |
Het |
| Dock11 |
G |
T |
X: 35,310,699 (GRCm39) |
|
probably benign |
Het |
| Dsn1 |
A |
T |
2: 156,838,739 (GRCm39) |
M292K |
possibly damaging |
Het |
| Efl1 |
A |
G |
7: 82,301,094 (GRCm39) |
T33A |
probably damaging |
Het |
| Fbln2 |
T |
C |
6: 91,242,901 (GRCm39) |
|
probably benign |
Het |
| Fcna |
G |
C |
2: 25,520,693 (GRCm39) |
|
probably benign |
Het |
| Hecw1 |
T |
A |
13: 14,420,393 (GRCm39) |
Y1010F |
probably damaging |
Het |
| Igha |
A |
G |
12: 113,222,713 (GRCm39) |
V236A |
unknown |
Het |
| Igsf9b |
T |
C |
9: 27,233,932 (GRCm39) |
M377T |
probably benign |
Het |
| Itga9 |
A |
G |
9: 118,457,212 (GRCm39) |
T108A |
probably benign |
Het |
| Kcna3 |
A |
T |
3: 106,945,206 (GRCm39) |
M490L |
probably benign |
Het |
| Lama3 |
A |
T |
18: 12,673,024 (GRCm39) |
Y886F |
possibly damaging |
Het |
| Lcorl |
T |
C |
5: 45,931,371 (GRCm39) |
|
probably benign |
Het |
| Lyl1 |
C |
T |
8: 85,429,300 (GRCm39) |
P3L |
possibly damaging |
Het |
| Mmp1a |
TG |
TGG |
9: 7,465,083 (GRCm38) |
|
probably null |
Het |
| Odr4 |
C |
A |
1: 150,258,804 (GRCm39) |
|
probably benign |
Het |
| Or1a1b |
G |
A |
11: 74,097,653 (GRCm39) |
L130F |
probably damaging |
Het |
| Or51a39 |
A |
T |
7: 102,362,753 (GRCm39) |
V289E |
probably null |
Het |
| Pex10 |
A |
G |
4: 155,155,076 (GRCm39) |
|
probably benign |
Het |
| Plcl2 |
G |
A |
17: 50,918,029 (GRCm39) |
V943M |
possibly damaging |
Het |
| Prkcd |
T |
A |
14: 30,329,294 (GRCm39) |
T164S |
probably damaging |
Het |
| Ptprn2 |
T |
A |
12: 117,212,308 (GRCm39) |
L910Q |
probably damaging |
Het |
| Rab1b |
T |
C |
19: 5,154,923 (GRCm39) |
I41V |
probably benign |
Het |
| Scpep1 |
T |
A |
11: 88,824,271 (GRCm39) |
|
probably null |
Het |
| Sergef |
T |
C |
7: 46,240,180 (GRCm39) |
T288A |
probably damaging |
Het |
| Setdb1 |
G |
A |
3: 95,248,726 (GRCm39) |
P397S |
probably damaging |
Het |
| Setx |
T |
A |
2: 29,029,423 (GRCm39) |
D230E |
probably damaging |
Het |
| Sin3a |
C |
A |
9: 57,002,539 (GRCm39) |
|
probably benign |
Het |
| Smad5 |
T |
C |
13: 56,883,754 (GRCm39) |
L380P |
probably damaging |
Het |
| Speer4c1 |
A |
C |
5: 15,919,214 (GRCm39) |
|
probably benign |
Het |
| Stard9 |
A |
T |
2: 120,532,675 (GRCm39) |
|
probably benign |
Het |
| Tek |
A |
G |
4: 94,715,500 (GRCm39) |
D346G |
probably benign |
Het |
| Trav7d-4 |
T |
A |
14: 53,007,353 (GRCm39) |
W12R |
unknown |
Het |
| Trmt1l |
G |
T |
1: 151,333,681 (GRCm39) |
W728L |
probably damaging |
Het |
| Ubash3a |
C |
A |
17: 31,458,198 (GRCm39) |
T559K |
probably damaging |
Het |
| Vmn1r72 |
T |
A |
7: 11,403,711 (GRCm39) |
I246F |
possibly damaging |
Het |
| Zfp618 |
A |
T |
4: 62,998,325 (GRCm39) |
Q109L |
probably damaging |
Het |
|
| Other mutations in Efemp1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00816:Efemp1
|
APN |
11 |
28,876,223 (GRCm39) |
missense |
probably benign |
0.32 |
|
IGL01862:Efemp1
|
APN |
11 |
28,871,428 (GRCm39) |
missense |
probably damaging |
0.97 |
|
IGL02568:Efemp1
|
APN |
11 |
28,866,971 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL03175:Efemp1
|
APN |
11 |
28,876,259 (GRCm39) |
missense |
probably benign |
0.04 |
|
R0973:Efemp1
|
UTSW |
11 |
28,804,538 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0973:Efemp1
|
UTSW |
11 |
28,804,538 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0974:Efemp1
|
UTSW |
11 |
28,804,538 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1678:Efemp1
|
UTSW |
11 |
28,866,942 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1701:Efemp1
|
UTSW |
11 |
28,871,750 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R1831:Efemp1
|
UTSW |
11 |
28,871,442 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R2016:Efemp1
|
UTSW |
11 |
28,871,613 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2017:Efemp1
|
UTSW |
11 |
28,871,613 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2024:Efemp1
|
UTSW |
11 |
28,864,696 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R2025:Efemp1
|
UTSW |
11 |
28,864,696 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R2027:Efemp1
|
UTSW |
11 |
28,864,696 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R2084:Efemp1
|
UTSW |
11 |
28,865,763 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2396:Efemp1
|
UTSW |
11 |
28,817,941 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R4803:Efemp1
|
UTSW |
11 |
28,871,795 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R4817:Efemp1
|
UTSW |
11 |
28,876,241 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5201:Efemp1
|
UTSW |
11 |
28,864,590 (GRCm39) |
missense |
probably benign |
0.05 |
|
R5297:Efemp1
|
UTSW |
11 |
28,817,868 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5534:Efemp1
|
UTSW |
11 |
28,817,758 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5839:Efemp1
|
UTSW |
11 |
28,871,418 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R6037:Efemp1
|
UTSW |
11 |
28,871,760 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6037:Efemp1
|
UTSW |
11 |
28,871,760 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6314:Efemp1
|
UTSW |
11 |
28,864,603 (GRCm39) |
missense |
probably benign |
0.12 |
|
R7067:Efemp1
|
UTSW |
11 |
28,817,926 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7396:Efemp1
|
UTSW |
11 |
28,817,501 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R8223:Efemp1
|
UTSW |
11 |
28,804,528 (GRCm39) |
missense |
probably benign |
0.13 |
|
R8243:Efemp1
|
UTSW |
11 |
28,871,690 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8279:Efemp1
|
UTSW |
11 |
28,871,795 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
R8313:Efemp1
|
UTSW |
11 |
28,860,691 (GRCm39) |
missense |
probably benign |
0.39 |
|
R8378:Efemp1
|
UTSW |
11 |
28,871,765 (GRCm39) |
missense |
probably damaging |
0.98 |
|
Z1177:Efemp1
|
UTSW |
11 |
28,817,909 (GRCm39) |
missense |
probably benign |
0.09 |
|
| Predicted Primers |
PCR Primer
(F):5'- CTAGTGCAGATGAGTGGGCTAG -3'
(R):5'- TAAATGCCCACTTCTTACCATAGTC -3'
Sequencing Primer
(F):5'- AGTAAGCAAGGACTGAACAATTC -3'
(R):5'- GCTAAAATGAAAATGGCCCC -3'
|
| Posted On |
2017-02-01 |
Incidental Mutation