Incidental Mutation 'R6465:Bfsp1'
ID |
517764 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Bfsp1
|
Ensembl Gene |
ENSMUSG00000027420 |
Gene Name |
beaded filament structural protein 1, in lens-CP94 |
Synonyms |
filensin |
MMRRC Submission |
044598-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.163)
|
Stock # |
R6465 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
2 |
Chromosomal Location |
143668448-143705093 bp(-) (GRCm39) |
Type of Mutation |
critical splice donor site (2 bp from exon) |
DNA Base Change (assembly) |
A to C
at 143699975 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000096899
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028907]
[ENSMUST00000099296]
|
AlphaFold |
A2AMT1 |
Predicted Effect |
probably null
Transcript: ENSMUST00000028907
|
SMART Domains |
Protein: ENSMUSP00000028907 Gene: ENSMUSG00000027420
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 null
Transcript: ENSMUST00000099296
|
SMART Domains |
Protein: ENSMUSP00000096899 Gene: ENSMUSG00000027420
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 |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000120038
|
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 97.8%
- 20x: 93.1%
|
Validation Efficiency |
95% (40/42) |
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: 41 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A2ml1 |
G |
A |
6: 128,518,041 (GRCm39) |
T1415I |
probably damaging |
Het |
Acvr2b |
T |
A |
9: 119,262,369 (GRCm39) |
W461R |
probably damaging |
Het |
Adam23 |
G |
T |
1: 63,605,827 (GRCm39) |
C637F |
probably damaging |
Het |
Apol8 |
T |
G |
15: 77,634,148 (GRCm39) |
T143P |
probably benign |
Het |
Cytl1 |
T |
C |
5: 37,895,014 (GRCm39) |
V99A |
probably benign |
Het |
Dock2 |
A |
T |
11: 34,453,413 (GRCm39) |
V793E |
probably damaging |
Het |
Fxyd5 |
G |
T |
7: 30,737,305 (GRCm39) |
T81K |
probably damaging |
Het |
Gcm1 |
A |
G |
9: 77,972,151 (GRCm39) |
Y364C |
probably damaging |
Het |
Get3 |
A |
T |
8: 85,745,194 (GRCm39) |
M291K |
probably benign |
Het |
Haghl |
T |
C |
17: 26,002,793 (GRCm39) |
N190S |
possibly damaging |
Het |
Inpp5j |
C |
A |
11: 3,452,293 (GRCm39) |
R319L |
possibly damaging |
Het |
Ints10 |
A |
G |
8: 69,260,188 (GRCm39) |
N304S |
probably benign |
Het |
Isoc1 |
T |
A |
18: 58,804,328 (GRCm39) |
C119S |
probably damaging |
Het |
Klhl18 |
A |
G |
9: 110,257,988 (GRCm39) |
M414T |
probably benign |
Het |
Krtap2-4 |
A |
G |
11: 99,505,585 (GRCm39) |
|
probably benign |
Het |
Krtap3-1 |
G |
A |
11: 99,457,277 (GRCm39) |
P45S |
possibly damaging |
Het |
Mroh2a |
GCCC |
GC |
1: 88,159,979 (GRCm39) |
|
probably null |
Het |
Myo7a |
A |
G |
7: 97,711,887 (GRCm39) |
V1754A |
possibly damaging |
Het |
Nedd4l |
T |
A |
18: 65,288,335 (GRCm39) |
D119E |
probably benign |
Het |
Nsun7 |
T |
C |
5: 66,452,929 (GRCm39) |
V548A |
probably benign |
Het |
Or5m12 |
A |
T |
2: 85,734,883 (GRCm39) |
S172T |
probably benign |
Het |
Or6b6 |
A |
T |
7: 106,571,419 (GRCm39) |
V44E |
possibly damaging |
Het |
Parvg |
A |
G |
15: 84,213,141 (GRCm39) |
D127G |
probably damaging |
Het |
Pate13 |
A |
T |
9: 35,819,921 (GRCm39) |
N25Y |
possibly damaging |
Het |
Piezo2 |
T |
A |
18: 63,174,734 (GRCm39) |
M2007L |
possibly damaging |
Het |
Pou2f3 |
A |
C |
9: 43,051,162 (GRCm39) |
F175V |
probably damaging |
Het |
Ptprn2 |
T |
C |
12: 117,233,209 (GRCm39) |
I958T |
probably damaging |
Het |
Pwwp2b |
T |
C |
7: 138,835,951 (GRCm39) |
V464A |
probably benign |
Het |
Pzp |
A |
G |
6: 128,468,582 (GRCm39) |
Y982H |
probably damaging |
Het |
Rad17 |
T |
A |
13: 100,773,588 (GRCm39) |
N202I |
probably benign |
Het |
Rtel1 |
T |
A |
2: 180,977,733 (GRCm39) |
D271E |
possibly damaging |
Het |
Sos2 |
T |
C |
12: 69,643,549 (GRCm39) |
S943G |
probably benign |
Het |
Tdpoz6 |
A |
G |
3: 93,600,303 (GRCm39) |
I22T |
probably damaging |
Het |
Tm9sf2 |
A |
G |
14: 122,378,619 (GRCm39) |
H241R |
probably benign |
Het |
Ttc8 |
A |
G |
12: 98,930,829 (GRCm39) |
E291G |
probably damaging |
Het |
Unc93a2 |
G |
T |
17: 7,641,842 (GRCm39) |
T202K |
probably damaging |
Het |
Wfikkn1 |
A |
G |
17: 26,097,692 (GRCm39) |
C211R |
probably damaging |
Het |
Ylpm1 |
T |
A |
12: 85,096,576 (GRCm39) |
D1219E |
probably damaging |
Het |
Zc3hav1 |
T |
C |
6: 38,308,784 (GRCm39) |
Y586C |
possibly damaging |
Het |
Zcchc4 |
T |
A |
5: 52,976,618 (GRCm39) |
F471I |
probably benign |
Het |
Zfp719 |
C |
A |
7: 43,240,108 (GRCm39) |
Y565* |
probably null |
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 |
|
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 |
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'- GGGTCAACATACCTAGCATACC -3'
(R):5'- ATTATTGGGAAGCAGTGGGC -3'
Sequencing Primer
(F):5'- GCATACCATATCAGCTTCATGG -3'
(R):5'- CTAGGAAGTGCGGAATTAGCTCTTTC -3'
|
Posted On |
2018-05-21 |