Incidental Mutation 'IGL03273:Fbln7'
| ID |
415333 |
| 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 # |
IGL03273
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
128705791-128738954 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 128737390 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Serine
at position 402
(T402S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000105953
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028864]
[ENSMUST00000110324]
|
| AlphaFold |
Q501P1 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000028864
AA Change: T402S
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
| SMART Domains |
Protein: ENSMUSP00000028864
Gene: ENSMUSG00000027386
AA Change: T402S
| 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 |
probably benign
Transcript: ENSMUST00000110324
AA Change: T402S
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
| SMART Domains |
Protein: ENSMUSP00000105953
Gene: ENSMUSG00000027386
AA Change: T402S
| 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: 26 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aaas |
A |
G |
15: 102,258,430 (GRCm39) |
I29T |
probably damaging |
Het |
| Adam32 |
T |
A |
8: 25,411,356 (GRCm39) |
I102F |
probably damaging |
Het |
| Aldoart1 |
T |
C |
4: 72,770,346 (GRCm39) |
K154R |
probably benign |
Het |
| Cdin1 |
A |
G |
2: 115,462,472 (GRCm39) |
Y68C |
probably damaging |
Het |
| Cep63 |
T |
C |
9: 102,479,666 (GRCm39) |
K349E |
probably benign |
Het |
| Col28a1 |
A |
G |
6: 8,103,484 (GRCm39) |
|
probably benign |
Het |
| Dennd4c |
A |
G |
4: 86,696,033 (GRCm39) |
N130S |
probably damaging |
Het |
| Dnah5 |
T |
G |
15: 28,458,795 (GRCm39) |
F4477L |
probably damaging |
Het |
| Frem2 |
A |
C |
3: 53,444,930 (GRCm39) |
Y2400* |
probably null |
Het |
| Gm11937 |
C |
T |
11: 99,500,627 (GRCm39) |
|
probably benign |
Het |
| Guca1a |
T |
C |
17: 47,706,098 (GRCm39) |
D127G |
probably benign |
Het |
| Hrh3 |
T |
A |
2: 179,742,441 (GRCm39) |
T396S |
possibly damaging |
Het |
| Map1a |
A |
G |
2: 121,130,719 (GRCm39) |
N512D |
probably damaging |
Het |
| Mysm1 |
A |
C |
4: 94,853,955 (GRCm39) |
S215A |
probably damaging |
Het |
| Nelfcd |
G |
A |
2: 174,268,625 (GRCm39) |
A559T |
possibly damaging |
Het |
| Nup93 |
T |
A |
8: 95,032,905 (GRCm39) |
D556E |
probably benign |
Het |
| Ofcc1 |
T |
A |
13: 40,334,001 (GRCm39) |
K363N |
probably damaging |
Het |
| Psme4 |
T |
A |
11: 30,798,130 (GRCm39) |
S1374R |
probably damaging |
Het |
| Samt2b |
A |
T |
X: 153,122,697 (GRCm39) |
F114L |
probably benign |
Het |
| Slitrk2 |
T |
C |
X: 65,697,602 (GRCm39) |
I31T |
probably benign |
Het |
| Stk40 |
A |
G |
4: 126,017,599 (GRCm39) |
N42S |
possibly damaging |
Het |
| Tarbp1 |
A |
G |
8: 127,180,574 (GRCm39) |
L600P |
probably damaging |
Het |
| Tjp1 |
T |
C |
7: 64,949,547 (GRCm39) |
S1692G |
probably damaging |
Het |
| Tmem63c |
G |
T |
12: 87,128,576 (GRCm39) |
V534L |
probably damaging |
Het |
| Vmn2r77 |
A |
G |
7: 86,460,494 (GRCm39) |
K607E |
probably damaging |
Het |
| Zfp292 |
A |
T |
4: 34,806,163 (GRCm39) |
S2299T |
probably benign |
Het |
|
| Other mutations in Fbln7 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00781:Fbln7
|
APN |
2 |
128,735,771 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
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 |
|
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 |
2016-08-02 |
Incidental Mutation