Incidental Mutation 'IGL00781:Fbln7'
| ID |
13473 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Fbln7
|
| Ensembl Gene |
ENSMUSG00000027386 |
| Gene Name |
fibulin 7 |
| Synonyms |
1600015H20Rik |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL00781
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
128705791-128738954 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 128735771 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Glutamine
at position 253
(R253Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000105953
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028864]
[ENSMUST00000110324]
|
| AlphaFold |
Q501P1 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000028864
AA Change: R253Q
PolyPhen 2
Score 0.929 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000028864
Gene: ENSMUSG00000027386
AA Change: R253Q
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
23 |
N/A |
INTRINSIC |
|
low complexity region
|
31 |
44 |
N/A |
INTRINSIC |
|
CCP
|
81 |
134 |
7.5e-15 |
SMART |
|
EGF_CA
|
136 |
172 |
1.46e-7 |
SMART |
|
low complexity region
|
177 |
189 |
N/A |
INTRINSIC |
|
EGF_CA
|
225 |
270 |
2.08e-12 |
SMART |
|
EGF
|
274 |
320 |
1.95e1 |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000110324
AA Change: R253Q
PolyPhen 2
Score 0.929 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000105953
Gene: ENSMUSG00000027386
AA Change: R253Q
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
23 |
N/A |
INTRINSIC |
|
low complexity region
|
31 |
44 |
N/A |
INTRINSIC |
|
CCP
|
81 |
134 |
7.5e-15 |
SMART |
|
EGF_CA
|
136 |
172 |
1.46e-7 |
SMART |
|
low complexity region
|
177 |
189 |
N/A |
INTRINSIC |
|
EGF_CA
|
225 |
270 |
2.08e-12 |
SMART |
|
EGF
|
274 |
320 |
1.95e1 |
SMART |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 20 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acss3 |
A |
G |
10: 106,801,887 (GRCm39) |
S489P |
probably benign |
Het |
| Adam8 |
A |
T |
7: 139,567,158 (GRCm39) |
N431K |
probably damaging |
Het |
| Add1 |
A |
G |
5: 34,770,702 (GRCm39) |
H271R |
probably damaging |
Het |
| Adgrv1 |
G |
A |
13: 81,726,349 (GRCm39) |
L559F |
probably benign |
Het |
| Cdk17 |
A |
G |
10: 93,068,278 (GRCm39) |
Y312C |
probably damaging |
Het |
| Cemip |
A |
G |
7: 83,596,488 (GRCm39) |
I1092T |
possibly damaging |
Het |
| Col20a1 |
G |
T |
2: 180,645,272 (GRCm39) |
V885F |
possibly damaging |
Het |
| Dcc |
A |
G |
18: 71,942,266 (GRCm39) |
S284P |
probably benign |
Het |
| Ercc4 |
T |
C |
16: 12,943,233 (GRCm39) |
V284A |
possibly damaging |
Het |
| Fam184b |
A |
T |
5: 45,712,534 (GRCm39) |
|
probably null |
Het |
| Gfm2 |
T |
C |
13: 97,285,847 (GRCm39) |
F112S |
probably damaging |
Het |
| Gxylt1 |
C |
T |
15: 93,152,273 (GRCm39) |
R222H |
probably damaging |
Het |
| Madd |
T |
C |
2: 90,977,273 (GRCm39) |
I1385V |
probably benign |
Het |
| Pkn3 |
C |
A |
2: 29,973,402 (GRCm39) |
|
probably benign |
Het |
| Sppl2a |
T |
A |
2: 126,761,640 (GRCm39) |
N288I |
probably benign |
Het |
| St14 |
A |
G |
9: 31,015,075 (GRCm39) |
S308P |
probably damaging |
Het |
| Syne2 |
C |
A |
12: 76,070,836 (GRCm39) |
P4430T |
probably benign |
Het |
| Taf6l |
C |
T |
19: 8,751,025 (GRCm39) |
G43D |
probably damaging |
Het |
| Trim11 |
T |
C |
11: 58,881,523 (GRCm39) |
L472P |
probably benign |
Het |
| Usp2 |
C |
T |
9: 44,000,462 (GRCm39) |
R284* |
probably null |
Het |
|
| Other mutations in Fbln7 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02161:Fbln7
|
APN |
2 |
128,731,711 (GRCm39) |
missense |
probably benign |
0.23 |
|
IGL02383:Fbln7
|
APN |
2 |
128,737,477 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL03273:Fbln7
|
APN |
2 |
128,737,390 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0463:Fbln7
|
UTSW |
2 |
128,719,431 (GRCm39) |
missense |
probably benign |
0.06 |
|
R0541:Fbln7
|
UTSW |
2 |
128,719,454 (GRCm39) |
splice site |
probably benign |
|
|
R1036:Fbln7
|
UTSW |
2 |
128,735,815 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R1381:Fbln7
|
UTSW |
2 |
128,719,299 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1466:Fbln7
|
UTSW |
2 |
128,719,349 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1466:Fbln7
|
UTSW |
2 |
128,719,349 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1584:Fbln7
|
UTSW |
2 |
128,719,349 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1769:Fbln7
|
UTSW |
2 |
128,735,682 (GRCm39) |
splice site |
probably benign |
|
|
R1855:Fbln7
|
UTSW |
2 |
128,735,755 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R2065:Fbln7
|
UTSW |
2 |
128,719,386 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2066:Fbln7
|
UTSW |
2 |
128,719,386 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2067:Fbln7
|
UTSW |
2 |
128,719,386 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4666:Fbln7
|
UTSW |
2 |
128,736,830 (GRCm39) |
splice site |
probably null |
|
|
R4679:Fbln7
|
UTSW |
2 |
128,736,806 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4694:Fbln7
|
UTSW |
2 |
128,722,345 (GRCm39) |
splice site |
probably null |
|
|
R5933:Fbln7
|
UTSW |
2 |
128,719,418 (GRCm39) |
missense |
probably benign |
|
|
R6211:Fbln7
|
UTSW |
2 |
128,737,260 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6606:Fbln7
|
UTSW |
2 |
128,719,296 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R7519:Fbln7
|
UTSW |
2 |
128,735,785 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9205:Fbln7
|
UTSW |
2 |
128,737,168 (GRCm39) |
missense |
probably null |
1.00 |
|
R9208:Fbln7
|
UTSW |
2 |
128,737,343 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9645:Fbln7
|
UTSW |
2 |
128,719,316 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9717:Fbln7
|
UTSW |
2 |
128,719,314 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Posted On |
2012-12-06 |
Incidental Mutation