Incidental Mutation 'R8279:Efemp1'
| ID |
638123 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Efemp1
|
| Ensembl Gene |
ENSMUSG00000020467 |
| Gene Name |
epidermal growth factor-containing fibulin-like extracellular matrix protein 1 |
| Synonyms |
|
| MMRRC Submission |
067702-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8279 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
28803204-28876743 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 28871795 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Leucine
at position 437
(F437L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000020759
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020759]
|
| AlphaFold |
Q8BPB5 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000020759
AA Change: F437L
PolyPhen 2
Score 0.522 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000020759
Gene: ENSMUSG00000020467
AA Change: F437L
| 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 |
|
| SMART Domains |
Protein: ENSMUSP00000114757
Gene: ENSMUSG00000020467
AA Change: F141L
| Domain | Start | End | E-Value | Type |
|---|
|
EGF
|
2 |
38 |
6.86e-4 |
SMART |
|
EGF_like
|
39 |
83 |
3.49e-3 |
SMART |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.3%
|
| Validation Efficiency |
100% (33/33) |
| 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: 33 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb11 |
T |
C |
2: 69,069,549 (GRCm39) |
N1282S |
probably benign |
Het |
| Als2cl |
A |
G |
9: 110,723,653 (GRCm39) |
H683R |
probably damaging |
Het |
| Ank2 |
C |
T |
3: 126,726,820 (GRCm39) |
D825N |
probably benign |
Het |
| Aven |
C |
T |
2: 112,390,120 (GRCm39) |
R8W |
probably benign |
Het |
| Axl |
C |
T |
7: 25,463,379 (GRCm39) |
D633N |
probably benign |
Het |
| C3 |
A |
G |
17: 57,522,809 (GRCm39) |
V1025A |
probably benign |
Het |
| Cc2d2a |
T |
C |
5: 43,893,487 (GRCm39) |
S1489P |
probably benign |
Het |
| Ccng2 |
C |
G |
5: 93,421,202 (GRCm39) |
S237R |
probably benign |
Het |
| Cdk14 |
G |
A |
5: 5,316,125 (GRCm39) |
|
probably benign |
Het |
| Clpb |
T |
C |
7: 101,355,695 (GRCm39) |
V183A |
possibly damaging |
Het |
| Cpa3 |
C |
T |
3: 20,277,478 (GRCm39) |
M232I |
possibly damaging |
Het |
| Cyp2j7 |
A |
G |
4: 96,116,796 (GRCm39) |
|
probably null |
Het |
| Dnah2 |
A |
G |
11: 69,366,399 (GRCm39) |
I1907T |
probably damaging |
Het |
| Fat1 |
T |
A |
8: 45,483,384 (GRCm39) |
|
probably null |
Het |
| Fry |
A |
T |
5: 150,419,726 (GRCm39) |
T599S |
|
Het |
| Gm10142 |
T |
A |
10: 77,552,001 (GRCm39) |
*121R |
probably null |
Het |
| Kcng3 |
A |
C |
17: 83,895,254 (GRCm39) |
F404C |
probably damaging |
Het |
| Mefv |
T |
G |
16: 3,533,086 (GRCm39) |
H395P |
unknown |
Het |
| Mrc1 |
T |
A |
2: 14,271,168 (GRCm39) |
D357E |
possibly damaging |
Het |
| Muc15 |
A |
G |
2: 110,562,052 (GRCm39) |
T163A |
probably benign |
Het |
| Ncdn |
T |
C |
4: 126,644,199 (GRCm39) |
T208A |
probably benign |
Het |
| Or2q1 |
A |
T |
6: 42,794,557 (GRCm39) |
I51F |
probably damaging |
Het |
| Or8b54 |
G |
A |
9: 38,686,577 (GRCm39) |
V9M |
noncoding transcript |
Het |
| Pdpk1 |
A |
G |
17: 24,307,147 (GRCm39) |
S395P |
probably benign |
Het |
| Slc27a6 |
T |
C |
18: 58,705,251 (GRCm39) |
V211A |
probably benign |
Het |
| Slco3a1 |
T |
C |
7: 73,934,144 (GRCm39) |
D676G |
possibly damaging |
Het |
| Slfn4 |
T |
G |
11: 83,077,482 (GRCm39) |
M90R |
possibly damaging |
Het |
| Ssbp4 |
T |
C |
8: 71,054,955 (GRCm39) |
D68G |
probably damaging |
Het |
| Sval3 |
A |
G |
6: 41,949,371 (GRCm39) |
T70A |
possibly damaging |
Het |
| Taf1c |
C |
T |
8: 120,325,750 (GRCm39) |
R704Q |
probably benign |
Het |
| Tex15 |
T |
A |
8: 34,061,765 (GRCm39) |
D398E |
probably damaging |
Het |
| Tmprss3 |
A |
T |
17: 31,416,709 (GRCm39) |
V9E |
probably benign |
Het |
| Vps35l |
T |
A |
7: 118,345,722 (GRCm39) |
M109K |
probably benign |
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 |
|
IGL03014:Efemp1
|
UTSW |
11 |
28,876,218 (GRCm39) |
missense |
probably damaging |
0.96 |
|
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 |
|
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'- AGTCTCAAACACTATGTGCCG -3'
(R):5'- CAGCTTTCTTAGATGCTATGGCC -3'
Sequencing Primer
(F):5'- CAAACACTATGTGCCGGGAGC -3'
(R):5'- ATCAGGATGGCTTTTAGGAGACTAC -3'
|
| Posted On |
2020-07-28 |
Incidental Mutation