Incidental Mutation 'IGL00509:Bfsp1'
| ID |
9262 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Bfsp1
|
| Ensembl Gene |
ENSMUSG00000027420 |
| Gene Name |
beaded filament structural protein 1, in lens-CP94 |
| Synonyms |
filensin |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.163)
|
| Stock # |
IGL00509
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
143668448-143705093 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 143673812 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Serine
at position 293
(T293S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000028907
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028907]
[ENSMUST00000099296]
|
| AlphaFold |
A2AMT1 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000028907
AA Change: T293S
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000028907
Gene: ENSMUSG00000027420
AA Change: T293S
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Filament
|
34 |
205 |
2.5e-13 |
PFAM |
|
low complexity region
|
400 |
411 |
N/A |
INTRINSIC |
|
low complexity region
|
544 |
561 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000099296
AA Change: T299S
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000096899
Gene: ENSMUSG00000027420
AA Change: T299S
| Domain | Start | End | E-Value | Type |
|---|
|
Filament
|
32 |
317 |
1.05e-6 |
SMART |
|
low complexity region
|
406 |
417 |
N/A |
INTRINSIC |
|
low complexity region
|
550 |
567 |
N/A |
INTRINSIC |
|
| 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 a lens-specific intermediate filament-like protein named filensin. The encoded protein is expressed in lens fiber cells after differentiation has begun. This protein functions as a component of the beaded filament which is a cytoskeletal structure found in lens fiber cells. Mutations in this gene are the cause of autosomal recessive cortical juvenile-onset cataract. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]
PHENOTYPE: Mutations in this gene produce lens abnormalities progressing to cataracts. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A930011G23Rik |
T |
C |
5: 99,391,102 (GRCm39) |
|
probably null |
Het |
| Abr |
A |
G |
11: 76,313,915 (GRCm39) |
L514P |
probably damaging |
Het |
| Ahnak |
T |
A |
19: 8,987,315 (GRCm39) |
D2866E |
possibly damaging |
Het |
| Ccr1 |
C |
T |
9: 123,764,090 (GRCm39) |
V147I |
probably benign |
Het |
| Cd84 |
T |
C |
1: 171,679,704 (GRCm39) |
|
probably null |
Het |
| Cep192 |
T |
C |
18: 67,991,939 (GRCm39) |
V1939A |
possibly damaging |
Het |
| Chrnb4 |
A |
T |
9: 54,943,878 (GRCm39) |
L80Q |
probably damaging |
Het |
| Ckmt2 |
A |
T |
13: 92,011,382 (GRCm39) |
L76H |
probably damaging |
Het |
| Cntnap2 |
C |
T |
6: 45,992,197 (GRCm39) |
P375S |
possibly damaging |
Het |
| Cped1 |
A |
T |
6: 22,215,522 (GRCm39) |
L685F |
probably damaging |
Het |
| Dab2ip |
T |
C |
2: 35,610,025 (GRCm39) |
S682P |
probably damaging |
Het |
| Dclk1 |
A |
T |
3: 55,154,707 (GRCm39) |
T46S |
probably damaging |
Het |
| Eif2d |
T |
A |
1: 131,094,089 (GRCm39) |
C427S |
probably benign |
Het |
| Fat4 |
T |
A |
3: 38,943,188 (GRCm39) |
Y694N |
probably damaging |
Het |
| Gm15217 |
T |
C |
14: 46,620,768 (GRCm39) |
|
probably benign |
Het |
| Gpr35 |
T |
C |
1: 92,910,594 (GRCm39) |
I102T |
probably damaging |
Het |
| Grk4 |
T |
A |
5: 34,873,634 (GRCm39) |
N233K |
probably damaging |
Het |
| Hdac3 |
T |
C |
18: 38,087,938 (GRCm39) |
D10G |
possibly damaging |
Het |
| Hexb |
G |
A |
13: 97,318,437 (GRCm39) |
T308M |
probably damaging |
Het |
| Inpp5j |
C |
A |
11: 3,451,595 (GRCm39) |
D436Y |
possibly damaging |
Het |
| Kif18a |
A |
G |
2: 109,148,333 (GRCm39) |
E609G |
possibly damaging |
Het |
| Kif24 |
T |
C |
4: 41,413,826 (GRCm39) |
|
probably null |
Het |
| Lrp4 |
G |
A |
2: 91,316,519 (GRCm39) |
|
probably benign |
Het |
| Mat2b |
T |
C |
11: 40,575,554 (GRCm39) |
K161E |
possibly damaging |
Het |
| Nek2 |
T |
G |
1: 191,559,490 (GRCm39) |
|
probably benign |
Het |
| Numa1 |
A |
G |
7: 101,662,493 (GRCm39) |
T1965A |
possibly damaging |
Het |
| Oca2 |
G |
A |
7: 55,930,594 (GRCm39) |
G137D |
probably damaging |
Het |
| Pdcl2 |
T |
A |
5: 76,472,959 (GRCm39) |
D3V |
probably damaging |
Het |
| Ranbp17 |
T |
C |
11: 33,443,402 (GRCm39) |
N91S |
probably benign |
Het |
| Siglech |
A |
T |
7: 55,418,635 (GRCm39) |
D146V |
possibly damaging |
Het |
| Slc4a3 |
C |
T |
1: 75,531,727 (GRCm39) |
T898M |
probably damaging |
Het |
| Sp3 |
A |
G |
2: 72,768,406 (GRCm39) |
|
probably benign |
Het |
| Tln1 |
C |
T |
4: 43,542,719 (GRCm39) |
V1396I |
probably benign |
Het |
| Ugt2a3 |
T |
A |
5: 87,473,514 (GRCm39) |
M468L |
probably damaging |
Het |
|
| Other mutations in Bfsp1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01457:Bfsp1
|
APN |
2 |
143,669,564 (GRCm39) |
splice site |
probably benign |
|
|
IGL02329:Bfsp1
|
APN |
2 |
143,704,566 (GRCm39) |
missense |
probably benign |
|
|
IGL02354:Bfsp1
|
APN |
2 |
143,673,907 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02361:Bfsp1
|
APN |
2 |
143,673,907 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02365:Bfsp1
|
APN |
2 |
143,668,656 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02407:Bfsp1
|
APN |
2 |
143,668,853 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL03118:Bfsp1
|
APN |
2 |
143,669,253 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
I0000:Bfsp1
|
UTSW |
2 |
143,687,888 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0112:Bfsp1
|
UTSW |
2 |
143,669,563 (GRCm39) |
splice site |
probably null |
|
|
R0657:Bfsp1
|
UTSW |
2 |
143,669,570 (GRCm39) |
splice site |
probably benign |
|
|
R1642:Bfsp1
|
UTSW |
2 |
143,683,683 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1816:Bfsp1
|
UTSW |
2 |
143,683,599 (GRCm39) |
missense |
probably benign |
0.23 |
|
R2061:Bfsp1
|
UTSW |
2 |
143,704,598 (GRCm39) |
missense |
probably benign |
0.08 |
|
R2248:Bfsp1
|
UTSW |
2 |
143,669,572 (GRCm39) |
splice site |
probably null |
|
|
R3024:Bfsp1
|
UTSW |
2 |
143,687,879 (GRCm39) |
missense |
probably benign |
0.19 |
|
R4029:Bfsp1
|
UTSW |
2 |
143,673,749 (GRCm39) |
splice site |
probably benign |
|
|
R4914:Bfsp1
|
UTSW |
2 |
143,669,391 (GRCm39) |
missense |
probably benign |
0.21 |
|
R4915:Bfsp1
|
UTSW |
2 |
143,669,391 (GRCm39) |
missense |
probably benign |
0.21 |
|
R4917:Bfsp1
|
UTSW |
2 |
143,669,391 (GRCm39) |
missense |
probably benign |
0.21 |
|
R4918:Bfsp1
|
UTSW |
2 |
143,669,391 (GRCm39) |
missense |
probably benign |
0.21 |
|
R5018:Bfsp1
|
UTSW |
2 |
143,704,802 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R5202:Bfsp1
|
UTSW |
2 |
143,668,891 (GRCm39) |
missense |
probably benign |
|
|
R5267:Bfsp1
|
UTSW |
2 |
143,668,971 (GRCm39) |
missense |
probably benign |
0.03 |
|
R5304:Bfsp1
|
UTSW |
2 |
143,669,211 (GRCm39) |
missense |
probably benign |
0.34 |
|
R5825:Bfsp1
|
UTSW |
2 |
143,669,379 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6465:Bfsp1
|
UTSW |
2 |
143,699,975 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6888:Bfsp1
|
UTSW |
2 |
143,668,639 (GRCm39) |
missense |
probably benign |
0.31 |
|
R7036:Bfsp1
|
UTSW |
2 |
143,668,843 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R7075:Bfsp1
|
UTSW |
2 |
143,690,885 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7362:Bfsp1
|
UTSW |
2 |
143,668,795 (GRCm39) |
missense |
probably benign |
0.19 |
|
R7538:Bfsp1
|
UTSW |
2 |
143,673,755 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7839:Bfsp1
|
UTSW |
2 |
143,673,770 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
X0022:Bfsp1
|
UTSW |
2 |
143,700,037 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2012-12-06 |
Incidental Mutation