Incidental Mutation 'R5767:Fbln5'
| ID |
446344 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Fbln5
|
| Ensembl Gene |
ENSMUSG00000021186 |
| Gene Name |
fibulin 5 |
| Synonyms |
EVEC |
| MMRRC Submission |
043367-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.139)
|
| Stock # |
R5767 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
12 |
| Chromosomal Location |
101712824-101785314 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 101731468 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Asparagine
at position 242
(I242N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000152680
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021603]
[ENSMUST00000222587]
|
| AlphaFold |
Q9WVH9 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000021603
AA Change: I229N
PolyPhen 2
Score 0.739 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000021603
Gene: ENSMUSG00000021186
AA Change: I229N
| Domain | Start | End | E-Value | Type |
|---|
|
EGF_like
|
42 |
86 |
4.71e-1 |
SMART |
|
EGF_CA
|
127 |
167 |
4.81e-8 |
SMART |
|
EGF_CA
|
168 |
206 |
2.31e-10 |
SMART |
|
EGF_CA
|
207 |
246 |
5.31e-10 |
SMART |
|
EGF_CA
|
247 |
287 |
2.22e-12 |
SMART |
|
EGF_like
|
288 |
333 |
8.14e-4 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000221373
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000222587
AA Change: I242N
PolyPhen 2
Score 0.972 (Sensitivity: 0.77; Specificity: 0.96)
|
| Meta Mutation Damage Score |
0.0826 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.3%
- 20x: 95.5%
|
| Validation Efficiency |
98% (52/53) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a secreted, extracellular matrix protein containing an Arg-Gly-Asp (RGD) motif and calcium-binding EGF-like domains. It promotes adhesion of endothelial cells through interaction of integrins and the RGD motif. It is prominently expressed in developing arteries but less so in adult vessels. However, its expression is reinduced in balloon-injured vessels and atherosclerotic lesions, notably in intimal vascular smooth muscle cells and endothelial cells. Therefore, the protein encoded by this gene may play a role in vascular development and remodeling. Defects in this gene are a cause of autosomal dominant cutis laxa, autosomal recessive cutis laxa type I (CL type I), and age-related macular degeneration type 3 (ARMD3). [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous inactivation of this locus impairs elastic fiber development. Mutant mice exhibit loose skin, lung abnormalities leading to emphysema, and cardiovascular defects affecting the aorta. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Actr6 |
A |
T |
10: 89,562,617 (GRCm39) |
D87E |
probably damaging |
Het |
| AI429214 |
TCCCTGATGAAC |
TC |
8: 37,461,383 (GRCm39) |
|
probably null |
Het |
| Ano3 |
A |
T |
2: 110,491,616 (GRCm39) |
Y887N |
probably damaging |
Het |
| Arid4a |
A |
G |
12: 71,106,867 (GRCm39) |
D313G |
probably damaging |
Het |
| Armc2 |
A |
G |
10: 41,887,923 (GRCm39) |
V20A |
probably benign |
Het |
| Bltp3b |
A |
G |
10: 89,623,061 (GRCm39) |
D312G |
possibly damaging |
Het |
| C2 |
T |
A |
17: 35,095,432 (GRCm39) |
N171I |
possibly damaging |
Het |
| Cdh1 |
C |
A |
8: 107,395,187 (GRCm39) |
N865K |
probably damaging |
Het |
| Cep89 |
T |
A |
7: 35,117,070 (GRCm39) |
V224E |
probably damaging |
Het |
| Cfap251 |
G |
A |
5: 123,436,584 (GRCm39) |
V1038I |
probably benign |
Het |
| Dennd2d |
C |
T |
3: 106,395,131 (GRCm39) |
|
probably benign |
Het |
| Diaph1 |
T |
A |
18: 37,986,408 (GRCm39) |
K1157N |
probably damaging |
Het |
| Dsg4 |
T |
A |
18: 20,595,549 (GRCm39) |
L584* |
probably null |
Het |
| Exoc4 |
G |
A |
6: 33,895,367 (GRCm39) |
A795T |
probably benign |
Het |
| Gls2 |
A |
G |
10: 128,041,090 (GRCm39) |
H394R |
probably damaging |
Het |
| Gm27013 |
C |
T |
6: 130,652,921 (GRCm39) |
C847Y |
possibly damaging |
Het |
| Ifna5 |
C |
A |
4: 88,754,036 (GRCm39) |
T92K |
possibly damaging |
Het |
| Ireb2 |
A |
G |
9: 54,807,800 (GRCm39) |
M674V |
probably benign |
Het |
| Itga2 |
C |
T |
13: 114,976,106 (GRCm39) |
V1089M |
possibly damaging |
Het |
| Kctd16 |
A |
T |
18: 40,391,922 (GRCm39) |
Y170F |
probably benign |
Het |
| Kif15 |
A |
G |
9: 122,843,039 (GRCm39) |
N45D |
possibly damaging |
Het |
| Lgr6 |
C |
T |
1: 134,921,748 (GRCm39) |
A199T |
probably damaging |
Het |
| Mink1 |
A |
G |
11: 70,496,901 (GRCm39) |
K420E |
possibly damaging |
Het |
| Ms4a14 |
G |
T |
19: 11,279,391 (GRCm39) |
Q1056K |
probably benign |
Het |
| Or11g1 |
T |
C |
14: 50,651,235 (GRCm39) |
V78A |
possibly damaging |
Het |
| Or5k8 |
T |
C |
16: 58,644,316 (GRCm39) |
Y252C |
probably benign |
Het |
| Or8k21 |
T |
A |
2: 86,144,742 (GRCm39) |
E296V |
probably damaging |
Het |
| Ovch2 |
T |
C |
7: 107,381,185 (GRCm39) |
E571G |
probably benign |
Het |
| Pmel |
T |
C |
10: 128,550,250 (GRCm39) |
V95A |
probably damaging |
Het |
| Ptger2 |
G |
T |
14: 45,226,599 (GRCm39) |
G60C |
probably benign |
Het |
| Ranbp2 |
T |
G |
10: 58,312,647 (GRCm39) |
S1122R |
probably benign |
Het |
| Rasal2 |
T |
C |
1: 157,003,732 (GRCm39) |
D309G |
probably damaging |
Het |
| Rcc2 |
T |
A |
4: 140,443,230 (GRCm39) |
C303S |
probably damaging |
Het |
| Rufy4 |
T |
C |
1: 74,186,822 (GRCm39) |
C537R |
probably damaging |
Het |
| Serpini1 |
C |
T |
3: 75,520,388 (GRCm39) |
|
probably benign |
Het |
| Sgo2a |
G |
T |
1: 58,058,819 (GRCm39) |
E1133* |
probably null |
Het |
| Slc22a30 |
G |
A |
19: 8,321,757 (GRCm39) |
Q436* |
probably null |
Het |
| Smarcc1 |
G |
A |
9: 109,961,251 (GRCm39) |
|
probably benign |
Het |
| Tbcd |
A |
G |
11: 121,483,518 (GRCm39) |
E749G |
probably benign |
Het |
| Tmc3 |
G |
A |
7: 83,249,190 (GRCm39) |
A260T |
probably benign |
Het |
| Tnfrsf21 |
A |
G |
17: 43,348,550 (GRCm39) |
Y54C |
probably damaging |
Het |
| Urb1 |
T |
A |
16: 90,573,051 (GRCm39) |
M994L |
probably benign |
Het |
| Usp14 |
A |
T |
18: 10,009,935 (GRCm39) |
|
probably benign |
Het |
| Vps13a |
T |
C |
19: 16,641,928 (GRCm39) |
Y2233C |
probably damaging |
Het |
| Wnt2 |
G |
T |
6: 17,990,027 (GRCm39) |
A290E |
probably damaging |
Het |
| Zc3h8 |
A |
T |
2: 128,772,812 (GRCm39) |
C225* |
probably null |
Het |
|
| Other mutations in Fbln5 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00863:Fbln5
|
APN |
12 |
101,776,175 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL01357:Fbln5
|
APN |
12 |
101,717,146 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01860:Fbln5
|
APN |
12 |
101,776,128 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02567:Fbln5
|
APN |
12 |
101,728,059 (GRCm39) |
critical splice donor site |
probably null |
|
|
BB004:Fbln5
|
UTSW |
12 |
101,784,647 (GRCm39) |
start gained |
probably benign |
|
|
BB014:Fbln5
|
UTSW |
12 |
101,784,647 (GRCm39) |
start gained |
probably benign |
|
|
R0368:Fbln5
|
UTSW |
12 |
101,775,973 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1080:Fbln5
|
UTSW |
12 |
101,717,131 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R1606:Fbln5
|
UTSW |
12 |
101,731,457 (GRCm39) |
missense |
probably benign |
0.04 |
|
R2107:Fbln5
|
UTSW |
12 |
101,737,528 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2138:Fbln5
|
UTSW |
12 |
101,728,179 (GRCm39) |
missense |
probably benign |
0.32 |
|
R3694:Fbln5
|
UTSW |
12 |
101,731,511 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3918:Fbln5
|
UTSW |
12 |
101,717,050 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4166:Fbln5
|
UTSW |
12 |
101,723,618 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4626:Fbln5
|
UTSW |
12 |
101,727,086 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5004:Fbln5
|
UTSW |
12 |
101,727,080 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5264:Fbln5
|
UTSW |
12 |
101,723,703 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R5364:Fbln5
|
UTSW |
12 |
101,737,623 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5889:Fbln5
|
UTSW |
12 |
101,731,485 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5914:Fbln5
|
UTSW |
12 |
101,727,002 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R6427:Fbln5
|
UTSW |
12 |
101,728,081 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R7079:Fbln5
|
UTSW |
12 |
101,723,667 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7343:Fbln5
|
UTSW |
12 |
101,727,075 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7803:Fbln5
|
UTSW |
12 |
101,728,077 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7927:Fbln5
|
UTSW |
12 |
101,784,647 (GRCm39) |
start gained |
probably benign |
|
|
R8190:Fbln5
|
UTSW |
12 |
101,723,555 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8381:Fbln5
|
UTSW |
12 |
101,728,114 (GRCm39) |
missense |
probably benign |
|
|
R8747:Fbln5
|
UTSW |
12 |
101,734,754 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8857:Fbln5
|
UTSW |
12 |
101,726,990 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9035:Fbln5
|
UTSW |
12 |
101,717,041 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9288:Fbln5
|
UTSW |
12 |
101,734,728 (GRCm39) |
nonsense |
probably null |
|
|
R9296:Fbln5
|
UTSW |
12 |
101,780,853 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9341:Fbln5
|
UTSW |
12 |
101,737,551 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9343:Fbln5
|
UTSW |
12 |
101,737,551 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9481:Fbln5
|
UTSW |
12 |
101,734,728 (GRCm39) |
nonsense |
probably null |
|
|
R9562:Fbln5
|
UTSW |
12 |
101,734,722 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9565:Fbln5
|
UTSW |
12 |
101,734,722 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9619:Fbln5
|
UTSW |
12 |
101,723,552 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- GGGAAATGTCTCCAGCTAGAC -3'
(R):5'- ATGGTCTGATAGGTCCTCGG -3'
Sequencing Primer
(F):5'- GTCTCCAGCTAGACACACAACCAG -3'
(R):5'- ACCTAGGAAGCTGGGCTCTTG -3'
|
| Posted On |
2016-11-21 |
Incidental Mutation