Incidental Mutation 'R3024:Bfsp1'
| ID |
265768 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Bfsp1
|
| Ensembl Gene |
ENSMUSG00000027420 |
| Gene Name |
beaded filament structural protein 1, in lens-CP94 |
| Synonyms |
filensin |
| MMRRC Submission |
040540-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.163)
|
| Stock # |
R3024 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
143668448-143705093 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 143687879 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Aspartic acid
at position 182
(V182D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000096899
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028907]
[ENSMUST00000099296]
|
| AlphaFold |
A2AMT1 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000028907
AA Change: V182D
PolyPhen 2
Score 0.191 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000028907
Gene: ENSMUSG00000027420
AA Change: V182D
| 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 benign
Transcript: ENSMUST00000099296
AA Change: V182D
PolyPhen 2
Score 0.191 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000096899
Gene: ENSMUSG00000027420
AA Change: V182D
| 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 |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 94.5%
|
| 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: 22 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Arhgef37 |
T |
C |
18: 61,634,959 (GRCm39) |
E461G |
probably damaging |
Het |
| Birc6 |
T |
C |
17: 74,915,214 (GRCm39) |
S1635P |
possibly damaging |
Het |
| Chil6 |
T |
C |
3: 106,296,086 (GRCm39) |
D383G |
probably damaging |
Het |
| Itpr2 |
G |
A |
6: 146,081,808 (GRCm39) |
A175V |
probably benign |
Het |
| Kcnh7 |
G |
T |
2: 62,595,007 (GRCm39) |
R688S |
probably damaging |
Het |
| Krt6a |
A |
T |
15: 101,599,724 (GRCm39) |
C463S |
probably benign |
Het |
| Ksr2 |
T |
A |
5: 117,693,125 (GRCm39) |
I191N |
possibly damaging |
Het |
| Lyst |
T |
C |
13: 13,833,272 (GRCm39) |
V1698A |
probably benign |
Het |
| Or12d13 |
A |
T |
17: 37,647,918 (GRCm39) |
D68E |
probably damaging |
Het |
| Or4c127 |
A |
T |
2: 89,833,584 (GRCm39) |
N278I |
probably damaging |
Het |
| Pappa2 |
C |
T |
1: 158,763,795 (GRCm39) |
R572Q |
probably benign |
Het |
| Pes1 |
CGGAGGAGGAGGAGGAGGAGGAGG |
CGGAGGAGGAGGAGGAGGAGG |
11: 3,927,719 (GRCm39) |
|
probably benign |
Het |
| Phf20 |
A |
G |
2: 156,129,787 (GRCm39) |
H453R |
probably damaging |
Het |
| Prex1 |
G |
T |
2: 166,430,956 (GRCm39) |
H615Q |
probably benign |
Het |
| Slc25a54 |
T |
A |
3: 108,987,982 (GRCm39) |
I41N |
probably damaging |
Het |
| Slc35f5 |
A |
G |
1: 125,496,335 (GRCm39) |
S157G |
probably benign |
Het |
| Sstr3 |
G |
A |
15: 78,424,187 (GRCm39) |
R187W |
probably damaging |
Het |
| Trim41 |
T |
C |
11: 48,698,985 (GRCm39) |
K420E |
possibly damaging |
Het |
| Tsnaxip1 |
A |
G |
8: 106,568,375 (GRCm39) |
Y353C |
probably damaging |
Het |
| Vmn1r238 |
T |
C |
18: 3,123,305 (GRCm39) |
I36M |
probably benign |
Het |
| Xylt1 |
T |
A |
7: 117,147,883 (GRCm39) |
V149D |
probably damaging |
Het |
| Zfpm2 |
G |
A |
15: 40,966,355 (GRCm39) |
E815K |
probably benign |
Het |
|
| Other mutations in Bfsp1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00509:Bfsp1
|
APN |
2 |
143,673,812 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
|
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- GTTCTAACAGTCAGACCCCGTG -3'
(R):5'- CCACTCCAATATGCCATCCGTG -3'
Sequencing Primer
(F):5'- AGTCAGACCCCGTGCTTGTC -3'
(R):5'- ATCCGTGGCAGCTGTAGC -3'
|
| Posted On |
2015-02-05 |
Incidental Mutation