Incidental Mutation 'IGL03412:Fbln2'
ID |
421850 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Fbln2
|
Ensembl Gene |
ENSMUSG00000064080 |
Gene Name |
fibulin 2 |
Synonyms |
5730577E14Rik |
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
IGL03412
|
Quality Score |
|
Status
|
|
Chromosome |
6 |
Chromosomal Location |
91189442-91249522 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 91248763 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Asparagine
at position 1143
(D1143N)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000109126
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000041544]
[ENSMUST00000113498]
|
AlphaFold |
P37889 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000041544
AA Change: D1190N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000048334 Gene: ENSMUSG00000064080 AA Change: D1190N
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 damaging
Transcript: ENSMUST00000113498
AA Change: D1143N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000109126 Gene: ENSMUSG00000064080 AA Change: D1143N
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: ENSMUST00000137029
|
Coding Region Coverage |
|
Validation Efficiency |
|
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: 48 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adam6b |
A |
T |
12: 113,455,390 (GRCm39) |
R736* |
probably null |
Het |
Agpat2 |
T |
C |
2: 26,483,673 (GRCm39) |
T255A |
probably benign |
Het |
Akap3 |
G |
A |
6: 126,841,688 (GRCm39) |
M102I |
probably benign |
Het |
Cd300lb |
C |
A |
11: 114,819,206 (GRCm39) |
R5M |
probably damaging |
Het |
Chrna5 |
A |
T |
9: 54,911,719 (GRCm39) |
D69V |
probably damaging |
Het |
Col9a1 |
G |
A |
1: 24,249,508 (GRCm39) |
|
probably null |
Het |
Dnajb12 |
A |
T |
10: 59,725,895 (GRCm39) |
H60L |
probably benign |
Het |
Dnal1 |
T |
A |
12: 84,182,441 (GRCm39) |
M1K |
probably null |
Het |
Exoc7 |
C |
T |
11: 116,180,101 (GRCm39) |
V655M |
possibly damaging |
Het |
Fastkd3 |
A |
G |
13: 68,731,840 (GRCm39) |
R54G |
probably benign |
Het |
Flii |
C |
T |
11: 60,613,466 (GRCm39) |
V174M |
probably damaging |
Het |
Gtf2h4 |
T |
C |
17: 35,979,375 (GRCm39) |
I388M |
probably damaging |
Het |
Il20rb |
A |
G |
9: 100,357,049 (GRCm39) |
V27A |
probably benign |
Het |
Kidins220 |
T |
C |
12: 25,049,344 (GRCm39) |
S320P |
probably damaging |
Het |
Kif1b |
T |
C |
4: 149,359,396 (GRCm39) |
S114G |
probably benign |
Het |
Lama3 |
T |
C |
18: 12,552,239 (GRCm39) |
V397A |
probably damaging |
Het |
Man2a2 |
A |
T |
7: 80,016,746 (GRCm39) |
V356D |
probably damaging |
Het |
Mcpt9 |
T |
G |
14: 56,265,484 (GRCm39) |
T72P |
probably damaging |
Het |
Mmd |
T |
C |
11: 90,148,429 (GRCm39) |
|
probably null |
Het |
Mroh2b |
G |
A |
15: 4,973,854 (GRCm39) |
R1124Q |
probably benign |
Het |
Mvp |
T |
C |
7: 126,592,735 (GRCm39) |
D392G |
probably damaging |
Het |
Mycbpap |
T |
A |
11: 94,398,927 (GRCm39) |
|
probably null |
Het |
Myh2 |
A |
G |
11: 67,080,395 (GRCm39) |
H1203R |
probably benign |
Het |
Nbeal1 |
T |
A |
1: 60,281,726 (GRCm39) |
C816* |
probably null |
Het |
Or4a70 |
T |
A |
2: 89,324,555 (GRCm39) |
I34F |
probably benign |
Het |
Or5an6 |
A |
T |
19: 12,371,743 (GRCm39) |
T39S |
probably damaging |
Het |
Pcdh12 |
C |
T |
18: 38,416,568 (GRCm39) |
V186M |
probably benign |
Het |
Pik3c2a |
C |
T |
7: 116,017,074 (GRCm39) |
E228K |
probably benign |
Het |
Plcz1 |
A |
C |
6: 139,961,823 (GRCm39) |
Y243D |
probably damaging |
Het |
Rspo3 |
T |
A |
10: 29,411,270 (GRCm39) |
I19F |
possibly damaging |
Het |
Slc2a12 |
T |
C |
10: 22,540,868 (GRCm39) |
L241P |
probably damaging |
Het |
Slc4a10 |
G |
A |
2: 62,080,887 (GRCm39) |
|
probably benign |
Het |
Snai2 |
A |
T |
16: 14,525,120 (GRCm39) |
T209S |
possibly damaging |
Het |
Sorcs2 |
T |
C |
5: 36,203,848 (GRCm39) |
D549G |
probably damaging |
Het |
Srsf12 |
G |
A |
4: 33,230,929 (GRCm39) |
R141Q |
probably damaging |
Het |
Stab1 |
T |
G |
14: 30,876,364 (GRCm39) |
E908D |
probably benign |
Het |
Stat6 |
A |
T |
10: 127,494,074 (GRCm39) |
M634L |
probably benign |
Het |
Tex21 |
A |
G |
12: 76,291,780 (GRCm39) |
|
probably null |
Het |
Tsc2 |
C |
A |
17: 24,816,042 (GRCm39) |
R1715L |
probably damaging |
Het |
Ttll4 |
A |
G |
1: 74,726,480 (GRCm39) |
I693V |
probably benign |
Het |
Vmn1r5 |
A |
T |
6: 56,962,918 (GRCm39) |
M198L |
possibly damaging |
Het |
Vmn1r50 |
T |
C |
6: 90,085,007 (GRCm39) |
Y251H |
probably damaging |
Het |
Vmn2r59 |
A |
G |
7: 41,661,862 (GRCm39) |
I651T |
probably benign |
Het |
Wdr3 |
G |
T |
3: 100,059,293 (GRCm39) |
T342K |
probably benign |
Het |
Zbtb44 |
A |
G |
9: 30,964,763 (GRCm39) |
T58A |
probably benign |
Het |
Zeb2 |
A |
G |
2: 44,892,720 (GRCm39) |
|
probably benign |
Het |
Zmym2 |
C |
T |
14: 57,197,176 (GRCm39) |
Q1315* |
probably null |
Het |
Zmym6 |
T |
C |
4: 126,986,731 (GRCm39) |
I137T |
probably damaging |
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 |
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 |
R4878:Fbln2
|
UTSW |
6 |
91,233,977 (GRCm39) |
critical splice donor site |
probably null |
|
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 |
|
Posted On |
2016-08-02 |