Incidental Mutation 'R4878:Fbln2'
ID |
375061 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Fbln2
|
Ensembl Gene |
ENSMUSG00000064080 |
Gene Name |
fibulin 2 |
Synonyms |
5730577E14Rik |
MMRRC Submission |
042487-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R4878 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
6 |
Chromosomal Location |
91189442-91249522 bp(+) (GRCm39) |
Type of Mutation |
critical splice donor site (2 bp from exon) |
DNA Base Change (assembly) |
T to C
at 91233977 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000109126
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000041544]
[ENSMUST00000041544]
[ENSMUST00000041544]
[ENSMUST00000041544]
[ENSMUST00000113498]
[ENSMUST00000113498]
[ENSMUST00000113498]
[ENSMUST00000113498]
|
AlphaFold |
P37889 |
Predicted Effect |
probably null
Transcript: ENSMUST00000041544
|
SMART Domains |
Protein: ENSMUSP00000048334 Gene: ENSMUSG00000064080
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
26 |
N/A |
INTRINSIC |
Blast:VWC
|
72 |
138 |
8e-35 |
BLAST |
low complexity region
|
201 |
215 |
N/A |
INTRINSIC |
low complexity region
|
217 |
233 |
N/A |
INTRINSIC |
low complexity region
|
242 |
262 |
N/A |
INTRINSIC |
low complexity region
|
267 |
289 |
N/A |
INTRINSIC |
low complexity region
|
313 |
320 |
N/A |
INTRINSIC |
ANATO
|
435 |
470 |
1.54e-11 |
SMART |
ANATO
|
478 |
509 |
4.67e-2 |
SMART |
ANATO
|
511 |
543 |
2.78e-9 |
SMART |
low complexity region
|
546 |
569 |
N/A |
INTRINSIC |
EGF_CA
|
594 |
635 |
3.1e-11 |
SMART |
EGF
|
672 |
708 |
1.88e-1 |
SMART |
EGF
|
712 |
755 |
1.33e1 |
SMART |
EGF_CA
|
756 |
800 |
1.34e-6 |
SMART |
EGF_CA
|
801 |
846 |
1.65e-6 |
SMART |
EGF_CA
|
847 |
894 |
2.06e-7 |
SMART |
EGF_CA
|
895 |
937 |
3.56e-11 |
SMART |
EGF_CA
|
938 |
979 |
3.48e-14 |
SMART |
EGF_CA
|
980 |
1018 |
1.7e-8 |
SMART |
EGF_CA
|
1019 |
1061 |
8.18e-11 |
SMART |
EGF_CA
|
1062 |
1106 |
5.08e-7 |
SMART |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000041544
|
SMART Domains |
Protein: ENSMUSP00000048334 Gene: ENSMUSG00000064080
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
26 |
N/A |
INTRINSIC |
Blast:VWC
|
72 |
138 |
8e-35 |
BLAST |
low complexity region
|
201 |
215 |
N/A |
INTRINSIC |
low complexity region
|
217 |
233 |
N/A |
INTRINSIC |
low complexity region
|
242 |
262 |
N/A |
INTRINSIC |
low complexity region
|
267 |
289 |
N/A |
INTRINSIC |
low complexity region
|
313 |
320 |
N/A |
INTRINSIC |
ANATO
|
435 |
470 |
1.54e-11 |
SMART |
ANATO
|
478 |
509 |
4.67e-2 |
SMART |
ANATO
|
511 |
543 |
2.78e-9 |
SMART |
low complexity region
|
546 |
569 |
N/A |
INTRINSIC |
EGF_CA
|
594 |
635 |
3.1e-11 |
SMART |
EGF
|
672 |
708 |
1.88e-1 |
SMART |
EGF
|
712 |
755 |
1.33e1 |
SMART |
EGF_CA
|
756 |
800 |
1.34e-6 |
SMART |
EGF_CA
|
801 |
846 |
1.65e-6 |
SMART |
EGF_CA
|
847 |
894 |
2.06e-7 |
SMART |
EGF_CA
|
895 |
937 |
3.56e-11 |
SMART |
EGF_CA
|
938 |
979 |
3.48e-14 |
SMART |
EGF_CA
|
980 |
1018 |
1.7e-8 |
SMART |
EGF_CA
|
1019 |
1061 |
8.18e-11 |
SMART |
EGF_CA
|
1062 |
1106 |
5.08e-7 |
SMART |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000041544
|
SMART Domains |
Protein: ENSMUSP00000048334 Gene: ENSMUSG00000064080
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
26 |
N/A |
INTRINSIC |
Blast:VWC
|
72 |
138 |
8e-35 |
BLAST |
low complexity region
|
201 |
215 |
N/A |
INTRINSIC |
low complexity region
|
217 |
233 |
N/A |
INTRINSIC |
low complexity region
|
242 |
262 |
N/A |
INTRINSIC |
low complexity region
|
267 |
289 |
N/A |
INTRINSIC |
low complexity region
|
313 |
320 |
N/A |
INTRINSIC |
ANATO
|
435 |
470 |
1.54e-11 |
SMART |
ANATO
|
478 |
509 |
4.67e-2 |
SMART |
ANATO
|
511 |
543 |
2.78e-9 |
SMART |
low complexity region
|
546 |
569 |
N/A |
INTRINSIC |
EGF_CA
|
594 |
635 |
3.1e-11 |
SMART |
EGF
|
672 |
708 |
1.88e-1 |
SMART |
EGF
|
712 |
755 |
1.33e1 |
SMART |
EGF_CA
|
756 |
800 |
1.34e-6 |
SMART |
EGF_CA
|
801 |
846 |
1.65e-6 |
SMART |
EGF_CA
|
847 |
894 |
2.06e-7 |
SMART |
EGF_CA
|
895 |
937 |
3.56e-11 |
SMART |
EGF_CA
|
938 |
979 |
3.48e-14 |
SMART |
EGF_CA
|
980 |
1018 |
1.7e-8 |
SMART |
EGF_CA
|
1019 |
1061 |
8.18e-11 |
SMART |
EGF_CA
|
1062 |
1106 |
5.08e-7 |
SMART |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000041544
|
SMART Domains |
Protein: ENSMUSP00000048334 Gene: ENSMUSG00000064080
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
26 |
N/A |
INTRINSIC |
Blast:VWC
|
72 |
138 |
8e-35 |
BLAST |
low complexity region
|
201 |
215 |
N/A |
INTRINSIC |
low complexity region
|
217 |
233 |
N/A |
INTRINSIC |
low complexity region
|
242 |
262 |
N/A |
INTRINSIC |
low complexity region
|
267 |
289 |
N/A |
INTRINSIC |
low complexity region
|
313 |
320 |
N/A |
INTRINSIC |
ANATO
|
435 |
470 |
1.54e-11 |
SMART |
ANATO
|
478 |
509 |
4.67e-2 |
SMART |
ANATO
|
511 |
543 |
2.78e-9 |
SMART |
low complexity region
|
546 |
569 |
N/A |
INTRINSIC |
EGF_CA
|
594 |
635 |
3.1e-11 |
SMART |
EGF
|
672 |
708 |
1.88e-1 |
SMART |
EGF
|
712 |
755 |
1.33e1 |
SMART |
EGF_CA
|
756 |
800 |
1.34e-6 |
SMART |
EGF_CA
|
801 |
846 |
1.65e-6 |
SMART |
EGF_CA
|
847 |
894 |
2.06e-7 |
SMART |
EGF_CA
|
895 |
937 |
3.56e-11 |
SMART |
EGF_CA
|
938 |
979 |
3.48e-14 |
SMART |
EGF_CA
|
980 |
1018 |
1.7e-8 |
SMART |
EGF_CA
|
1019 |
1061 |
8.18e-11 |
SMART |
EGF_CA
|
1062 |
1106 |
5.08e-7 |
SMART |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000113498
|
SMART Domains |
Protein: ENSMUSP00000109126 Gene: ENSMUSG00000064080
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
26 |
N/A |
INTRINSIC |
Blast:VWC
|
72 |
138 |
8e-35 |
BLAST |
low complexity region
|
201 |
215 |
N/A |
INTRINSIC |
low complexity region
|
217 |
233 |
N/A |
INTRINSIC |
low complexity region
|
242 |
262 |
N/A |
INTRINSIC |
low complexity region
|
267 |
289 |
N/A |
INTRINSIC |
low complexity region
|
313 |
320 |
N/A |
INTRINSIC |
ANATO
|
435 |
470 |
1.54e-11 |
SMART |
ANATO
|
478 |
509 |
4.67e-2 |
SMART |
ANATO
|
511 |
543 |
2.78e-9 |
SMART |
low complexity region
|
546 |
569 |
N/A |
INTRINSIC |
EGF_CA
|
594 |
635 |
3.1e-11 |
SMART |
EGF
|
672 |
708 |
1.88e-1 |
SMART |
EGF_CA
|
709 |
753 |
1.34e-6 |
SMART |
EGF_CA
|
754 |
799 |
1.65e-6 |
SMART |
EGF_CA
|
800 |
847 |
2.06e-7 |
SMART |
EGF_CA
|
848 |
890 |
3.56e-11 |
SMART |
EGF_CA
|
891 |
932 |
3.48e-14 |
SMART |
EGF_CA
|
933 |
971 |
1.7e-8 |
SMART |
EGF_CA
|
972 |
1014 |
8.18e-11 |
SMART |
EGF_CA
|
1015 |
1059 |
5.08e-7 |
SMART |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000113498
|
SMART Domains |
Protein: ENSMUSP00000109126 Gene: ENSMUSG00000064080
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
26 |
N/A |
INTRINSIC |
Blast:VWC
|
72 |
138 |
8e-35 |
BLAST |
low complexity region
|
201 |
215 |
N/A |
INTRINSIC |
low complexity region
|
217 |
233 |
N/A |
INTRINSIC |
low complexity region
|
242 |
262 |
N/A |
INTRINSIC |
low complexity region
|
267 |
289 |
N/A |
INTRINSIC |
low complexity region
|
313 |
320 |
N/A |
INTRINSIC |
ANATO
|
435 |
470 |
1.54e-11 |
SMART |
ANATO
|
478 |
509 |
4.67e-2 |
SMART |
ANATO
|
511 |
543 |
2.78e-9 |
SMART |
low complexity region
|
546 |
569 |
N/A |
INTRINSIC |
EGF_CA
|
594 |
635 |
3.1e-11 |
SMART |
EGF
|
672 |
708 |
1.88e-1 |
SMART |
EGF_CA
|
709 |
753 |
1.34e-6 |
SMART |
EGF_CA
|
754 |
799 |
1.65e-6 |
SMART |
EGF_CA
|
800 |
847 |
2.06e-7 |
SMART |
EGF_CA
|
848 |
890 |
3.56e-11 |
SMART |
EGF_CA
|
891 |
932 |
3.48e-14 |
SMART |
EGF_CA
|
933 |
971 |
1.7e-8 |
SMART |
EGF_CA
|
972 |
1014 |
8.18e-11 |
SMART |
EGF_CA
|
1015 |
1059 |
5.08e-7 |
SMART |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000113498
|
SMART Domains |
Protein: ENSMUSP00000109126 Gene: ENSMUSG00000064080
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
26 |
N/A |
INTRINSIC |
Blast:VWC
|
72 |
138 |
8e-35 |
BLAST |
low complexity region
|
201 |
215 |
N/A |
INTRINSIC |
low complexity region
|
217 |
233 |
N/A |
INTRINSIC |
low complexity region
|
242 |
262 |
N/A |
INTRINSIC |
low complexity region
|
267 |
289 |
N/A |
INTRINSIC |
low complexity region
|
313 |
320 |
N/A |
INTRINSIC |
ANATO
|
435 |
470 |
1.54e-11 |
SMART |
ANATO
|
478 |
509 |
4.67e-2 |
SMART |
ANATO
|
511 |
543 |
2.78e-9 |
SMART |
low complexity region
|
546 |
569 |
N/A |
INTRINSIC |
EGF_CA
|
594 |
635 |
3.1e-11 |
SMART |
EGF
|
672 |
708 |
1.88e-1 |
SMART |
EGF_CA
|
709 |
753 |
1.34e-6 |
SMART |
EGF_CA
|
754 |
799 |
1.65e-6 |
SMART |
EGF_CA
|
800 |
847 |
2.06e-7 |
SMART |
EGF_CA
|
848 |
890 |
3.56e-11 |
SMART |
EGF_CA
|
891 |
932 |
3.48e-14 |
SMART |
EGF_CA
|
933 |
971 |
1.7e-8 |
SMART |
EGF_CA
|
972 |
1014 |
8.18e-11 |
SMART |
EGF_CA
|
1015 |
1059 |
5.08e-7 |
SMART |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000113498
|
SMART Domains |
Protein: ENSMUSP00000109126 Gene: ENSMUSG00000064080
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
26 |
N/A |
INTRINSIC |
Blast:VWC
|
72 |
138 |
8e-35 |
BLAST |
low complexity region
|
201 |
215 |
N/A |
INTRINSIC |
low complexity region
|
217 |
233 |
N/A |
INTRINSIC |
low complexity region
|
242 |
262 |
N/A |
INTRINSIC |
low complexity region
|
267 |
289 |
N/A |
INTRINSIC |
low complexity region
|
313 |
320 |
N/A |
INTRINSIC |
ANATO
|
435 |
470 |
1.54e-11 |
SMART |
ANATO
|
478 |
509 |
4.67e-2 |
SMART |
ANATO
|
511 |
543 |
2.78e-9 |
SMART |
low complexity region
|
546 |
569 |
N/A |
INTRINSIC |
EGF_CA
|
594 |
635 |
3.1e-11 |
SMART |
EGF
|
672 |
708 |
1.88e-1 |
SMART |
EGF_CA
|
709 |
753 |
1.34e-6 |
SMART |
EGF_CA
|
754 |
799 |
1.65e-6 |
SMART |
EGF_CA
|
800 |
847 |
2.06e-7 |
SMART |
EGF_CA
|
848 |
890 |
3.56e-11 |
SMART |
EGF_CA
|
891 |
932 |
3.48e-14 |
SMART |
EGF_CA
|
933 |
971 |
1.7e-8 |
SMART |
EGF_CA
|
972 |
1014 |
8.18e-11 |
SMART |
EGF_CA
|
1015 |
1059 |
5.08e-7 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000134286
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000147371
|
Meta Mutation Damage Score |
0.9218 |
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 96.8%
- 20x: 93.8%
|
Validation Efficiency |
96% (70/73) |
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes an extracellular matrix protein, which belongs to the fibulin family. This protein binds various extracellular ligands and calcium. It may play a role during organ development, in particular, during the differentiation of heart, skeletal and neuronal structures. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008] PHENOTYPE: Mice homozygous for a knock-out alle are viable, fertile and grossly normal with no apparent defects in elastic fiber formation in the aorta and skin. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 62 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aadacl4 |
C |
A |
4: 144,340,415 (GRCm39) |
H47N |
possibly damaging |
Het |
Adgrg3 |
A |
T |
8: 95,761,714 (GRCm39) |
N159I |
possibly damaging |
Het |
Agrn |
A |
T |
4: 156,255,302 (GRCm39) |
L1449Q |
probably damaging |
Het |
Anks6 |
C |
T |
4: 47,030,795 (GRCm39) |
G601S |
probably damaging |
Het |
Atg2a |
A |
T |
19: 6,300,274 (GRCm39) |
E694V |
probably damaging |
Het |
Ccndbp1 |
T |
A |
2: 120,845,172 (GRCm39) |
L363* |
probably null |
Het |
Cdh16 |
A |
T |
8: 105,344,696 (GRCm39) |
D478E |
probably damaging |
Het |
Cep295 |
A |
T |
9: 15,246,252 (GRCm39) |
W735R |
probably benign |
Het |
Cnnm2 |
C |
T |
19: 46,847,522 (GRCm39) |
P682S |
probably benign |
Het |
Daam2 |
C |
A |
17: 49,767,738 (GRCm39) |
R951L |
probably damaging |
Het |
Dmxl1 |
T |
A |
18: 49,984,543 (GRCm39) |
F180I |
probably damaging |
Het |
Dnajc6 |
T |
C |
4: 101,456,231 (GRCm39) |
|
probably benign |
Het |
Efemp2 |
A |
T |
19: 5,530,789 (GRCm39) |
|
probably benign |
Het |
Emilin1 |
A |
G |
5: 31,074,410 (GRCm39) |
D217G |
probably benign |
Het |
Enpep |
A |
T |
3: 129,070,420 (GRCm39) |
M829K |
probably benign |
Het |
Epb41l4a |
A |
G |
18: 33,931,625 (GRCm39) |
V623A |
probably damaging |
Het |
Erlin2 |
T |
A |
8: 27,517,194 (GRCm39) |
|
probably null |
Het |
Gga3 |
A |
T |
11: 115,482,147 (GRCm39) |
I157N |
probably damaging |
Het |
Gtpbp6 |
C |
T |
5: 110,255,177 (GRCm39) |
|
probably benign |
Het |
Hps4 |
T |
C |
5: 112,523,234 (GRCm39) |
V584A |
probably benign |
Het |
Ighv1-50 |
T |
C |
12: 115,083,567 (GRCm39) |
Y51C |
probably benign |
Het |
Kif13b |
T |
C |
14: 65,043,603 (GRCm39) |
L1801P |
probably benign |
Het |
Kif16b |
T |
C |
2: 142,689,923 (GRCm39) |
I330V |
probably damaging |
Het |
Klb |
A |
T |
5: 65,505,833 (GRCm39) |
R27W |
probably damaging |
Het |
Lrif1 |
A |
T |
3: 106,642,956 (GRCm39) |
K169M |
probably damaging |
Het |
Lrrc37 |
A |
G |
11: 103,508,717 (GRCm39) |
|
probably benign |
Het |
Met |
A |
G |
6: 17,549,058 (GRCm39) |
D970G |
probably damaging |
Het |
Mical3 |
A |
T |
6: 120,946,348 (GRCm39) |
M1051K |
possibly damaging |
Het |
Mios |
A |
G |
6: 8,215,094 (GRCm39) |
N97D |
probably benign |
Het |
Msh5 |
G |
A |
17: 35,257,432 (GRCm39) |
R321C |
probably damaging |
Het |
Mybpc1 |
T |
C |
10: 88,387,292 (GRCm39) |
Q473R |
possibly damaging |
Het |
Ncoa1 |
C |
T |
12: 4,325,004 (GRCm39) |
G970D |
probably damaging |
Het |
Neb |
T |
C |
2: 52,109,406 (GRCm39) |
Y232C |
probably damaging |
Het |
Nefh |
A |
G |
11: 4,891,333 (GRCm39) |
S429P |
probably damaging |
Het |
Notch3 |
C |
T |
17: 32,366,059 (GRCm39) |
G1014D |
probably damaging |
Het |
Nup107 |
A |
T |
10: 117,587,323 (GRCm39) |
C859S |
probably benign |
Het |
Or1d2 |
T |
C |
11: 74,255,674 (GRCm39) |
Y60H |
probably damaging |
Het |
Or2n1d |
T |
G |
17: 38,646,518 (GRCm39) |
F157V |
probably benign |
Het |
Or5m3b |
A |
G |
2: 85,871,799 (GRCm39) |
I47V |
probably benign |
Het |
Otud7b |
T |
A |
3: 96,043,821 (GRCm39) |
|
probably benign |
Het |
Pde1a |
A |
T |
2: 79,708,483 (GRCm39) |
S312T |
probably benign |
Het |
Piwil1 |
G |
T |
5: 128,818,045 (GRCm39) |
R94L |
probably damaging |
Het |
Pnma2 |
G |
A |
14: 67,154,503 (GRCm39) |
W309* |
probably null |
Het |
Ppef2 |
A |
C |
5: 92,376,599 (GRCm39) |
|
probably null |
Het |
Rabac1 |
T |
A |
7: 24,669,392 (GRCm39) |
Q212L |
possibly damaging |
Het |
Rad51 |
T |
C |
2: 118,950,973 (GRCm39) |
|
probably benign |
Het |
Rbm48 |
A |
T |
5: 3,641,853 (GRCm39) |
|
probably benign |
Het |
Rft1 |
C |
T |
14: 30,399,761 (GRCm39) |
S315L |
probably benign |
Het |
Rgs13 |
C |
T |
1: 144,047,217 (GRCm39) |
M1I |
probably null |
Het |
Rhbg |
A |
C |
3: 88,154,760 (GRCm39) |
S215A |
probably benign |
Het |
Rufy2 |
A |
T |
10: 62,837,990 (GRCm39) |
N379I |
probably damaging |
Het |
Slc17a1 |
T |
C |
13: 24,064,637 (GRCm39) |
L367P |
probably damaging |
Het |
Slc25a39 |
G |
A |
11: 102,294,501 (GRCm39) |
R308C |
probably benign |
Het |
Smo |
A |
G |
6: 29,753,570 (GRCm39) |
T149A |
probably benign |
Het |
Sqle |
A |
G |
15: 59,187,934 (GRCm39) |
K81E |
probably benign |
Het |
Tfpi |
A |
G |
2: 84,282,899 (GRCm39) |
|
probably null |
Het |
Tnk2 |
A |
G |
16: 32,498,448 (GRCm39) |
D572G |
probably damaging |
Het |
Ubr5 |
A |
T |
15: 38,006,808 (GRCm39) |
M1149K |
probably benign |
Het |
Utrn |
T |
A |
10: 12,603,502 (GRCm39) |
Q626L |
probably damaging |
Het |
Virma |
T |
A |
4: 11,544,971 (GRCm39) |
H1643Q |
probably damaging |
Het |
Wnt3 |
G |
T |
11: 103,699,031 (GRCm39) |
G46C |
possibly damaging |
Het |
Zkscan7 |
G |
T |
9: 122,719,865 (GRCm39) |
G184* |
probably null |
Het |
|
Other mutations in Fbln2 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01406:Fbln2
|
APN |
6 |
91,243,374 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01664:Fbln2
|
APN |
6 |
91,210,439 (GRCm39) |
missense |
probably damaging |
0.96 |
IGL02110:Fbln2
|
APN |
6 |
91,211,084 (GRCm39) |
missense |
probably benign |
0.01 |
IGL02227:Fbln2
|
APN |
6 |
91,233,349 (GRCm39) |
missense |
possibly damaging |
0.90 |
IGL02814:Fbln2
|
APN |
6 |
91,242,839 (GRCm39) |
nonsense |
probably null |
|
IGL03287:Fbln2
|
APN |
6 |
91,210,476 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03412:Fbln2
|
APN |
6 |
91,248,763 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03014:Fbln2
|
UTSW |
6 |
91,242,901 (GRCm39) |
intron |
probably benign |
|
R0103:Fbln2
|
UTSW |
6 |
91,248,532 (GRCm39) |
missense |
probably benign |
|
R0103:Fbln2
|
UTSW |
6 |
91,248,532 (GRCm39) |
missense |
probably benign |
|
R1563:Fbln2
|
UTSW |
6 |
91,240,365 (GRCm39) |
nonsense |
probably null |
|
R1843:Fbln2
|
UTSW |
6 |
91,242,757 (GRCm39) |
missense |
probably damaging |
1.00 |
R1846:Fbln2
|
UTSW |
6 |
91,233,399 (GRCm39) |
missense |
possibly damaging |
0.91 |
R1994:Fbln2
|
UTSW |
6 |
91,211,283 (GRCm39) |
missense |
probably damaging |
1.00 |
R2431:Fbln2
|
UTSW |
6 |
91,246,955 (GRCm39) |
missense |
probably damaging |
0.98 |
R2443:Fbln2
|
UTSW |
6 |
91,236,693 (GRCm39) |
missense |
probably damaging |
1.00 |
R2925:Fbln2
|
UTSW |
6 |
91,242,837 (GRCm39) |
missense |
probably damaging |
1.00 |
R3030:Fbln2
|
UTSW |
6 |
91,210,697 (GRCm39) |
missense |
probably damaging |
1.00 |
R3758:Fbln2
|
UTSW |
6 |
91,233,363 (GRCm39) |
missense |
probably damaging |
1.00 |
R3854:Fbln2
|
UTSW |
6 |
91,243,353 (GRCm39) |
missense |
probably damaging |
1.00 |
R4006:Fbln2
|
UTSW |
6 |
91,246,943 (GRCm39) |
splice site |
probably null |
|
R4627:Fbln2
|
UTSW |
6 |
91,236,749 (GRCm39) |
missense |
probably damaging |
1.00 |
R4752:Fbln2
|
UTSW |
6 |
91,233,225 (GRCm39) |
missense |
probably benign |
|
R4763:Fbln2
|
UTSW |
6 |
91,246,982 (GRCm39) |
missense |
probably damaging |
1.00 |
R4798:Fbln2
|
UTSW |
6 |
91,246,168 (GRCm39) |
missense |
probably benign |
0.03 |
R4877:Fbln2
|
UTSW |
6 |
91,210,477 (GRCm39) |
missense |
probably damaging |
1.00 |
R4937:Fbln2
|
UTSW |
6 |
91,241,681 (GRCm39) |
missense |
probably damaging |
0.99 |
R4969:Fbln2
|
UTSW |
6 |
91,248,569 (GRCm39) |
missense |
possibly damaging |
0.64 |
R4996:Fbln2
|
UTSW |
6 |
91,242,992 (GRCm39) |
missense |
probably benign |
0.05 |
R5344:Fbln2
|
UTSW |
6 |
91,243,365 (GRCm39) |
missense |
probably damaging |
1.00 |
R5681:Fbln2
|
UTSW |
6 |
91,248,778 (GRCm39) |
missense |
probably damaging |
1.00 |
R5838:Fbln2
|
UTSW |
6 |
91,248,830 (GRCm39) |
missense |
possibly damaging |
0.55 |
R6035:Fbln2
|
UTSW |
6 |
91,240,335 (GRCm39) |
missense |
probably damaging |
1.00 |
R6035:Fbln2
|
UTSW |
6 |
91,240,335 (GRCm39) |
missense |
probably damaging |
1.00 |
R6288:Fbln2
|
UTSW |
6 |
91,210,263 (GRCm39) |
missense |
probably damaging |
1.00 |
R6433:Fbln2
|
UTSW |
6 |
91,210,254 (GRCm39) |
missense |
probably damaging |
1.00 |
R6451:Fbln2
|
UTSW |
6 |
91,211,241 (GRCm39) |
missense |
probably benign |
0.18 |
R6491:Fbln2
|
UTSW |
6 |
91,236,732 (GRCm39) |
missense |
possibly damaging |
0.68 |
R6520:Fbln2
|
UTSW |
6 |
91,236,641 (GRCm39) |
missense |
probably damaging |
1.00 |
R6657:Fbln2
|
UTSW |
6 |
91,236,732 (GRCm39) |
missense |
possibly damaging |
0.68 |
R6987:Fbln2
|
UTSW |
6 |
91,211,211 (GRCm39) |
missense |
probably benign |
0.00 |
R7344:Fbln2
|
UTSW |
6 |
91,246,955 (GRCm39) |
missense |
probably damaging |
0.98 |
R7485:Fbln2
|
UTSW |
6 |
91,247,143 (GRCm39) |
splice site |
probably null |
|
R7488:Fbln2
|
UTSW |
6 |
91,242,845 (GRCm39) |
critical splice donor site |
probably null |
|
R7571:Fbln2
|
UTSW |
6 |
91,245,557 (GRCm39) |
missense |
probably damaging |
1.00 |
R7667:Fbln2
|
UTSW |
6 |
91,210,649 (GRCm39) |
missense |
probably damaging |
1.00 |
R7776:Fbln2
|
UTSW |
6 |
91,246,181 (GRCm39) |
missense |
probably damaging |
1.00 |
R7779:Fbln2
|
UTSW |
6 |
91,210,176 (GRCm39) |
missense |
probably damaging |
1.00 |
R8320:Fbln2
|
UTSW |
6 |
91,234,749 (GRCm39) |
missense |
possibly damaging |
0.51 |
R8487:Fbln2
|
UTSW |
6 |
91,227,846 (GRCm39) |
missense |
probably damaging |
0.97 |
R8871:Fbln2
|
UTSW |
6 |
91,233,215 (GRCm39) |
critical splice acceptor site |
probably null |
|
R8912:Fbln2
|
UTSW |
6 |
91,240,420 (GRCm39) |
missense |
possibly damaging |
0.95 |
R8931:Fbln2
|
UTSW |
6 |
91,246,072 (GRCm39) |
missense |
probably damaging |
1.00 |
R9127:Fbln2
|
UTSW |
6 |
91,210,473 (GRCm39) |
missense |
probably damaging |
0.98 |
R9248:Fbln2
|
UTSW |
6 |
91,231,556 (GRCm39) |
missense |
possibly damaging |
0.51 |
R9566:Fbln2
|
UTSW |
6 |
91,231,513 (GRCm39) |
missense |
probably benign |
0.01 |
Z1088:Fbln2
|
UTSW |
6 |
91,210,328 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Predicted Primers |
PCR Primer
(F):5'- CTAAGCCCTGGCAGAAGATGTG -3'
(R):5'- AGACCCAGAATCCCCTGATG -3'
Sequencing Primer
(F):5'- AGAAGATGTGAGCCTGCCC -3'
(R):5'- CAGAATCCCCTGATGTCTCC -3'
|
Posted On |
2016-03-17 |