Incidental Mutation 'R0657:Bfsp1'
ID |
218663 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Bfsp1
|
Ensembl Gene |
ENSMUSG00000027420 |
Gene Name |
beaded filament structural protein 1, in lens-CP94 |
Synonyms |
filensin |
MMRRC Submission |
038842-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.163)
|
Stock # |
R0657 (G1)
|
Quality Score |
35 |
Status
|
Validated
|
Chromosome |
2 |
Chromosomal Location |
143668448-143705093 bp(-) (GRCm39) |
Type of Mutation |
splice site |
DNA Base Change (assembly) |
A to C
at 143669570 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 benign
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 benign
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 |
|
Meta Mutation Damage Score |
0.0898 |
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 96.6%
- 20x: 91.3%
|
Validation Efficiency |
97% (58/60) |
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 |
4930503L19Rik |
G |
A |
18: 70,602,553 (GRCm39) |
Q87* |
probably null |
Het |
Aldh7a1 |
C |
T |
18: 56,670,269 (GRCm39) |
|
probably benign |
Het |
Btbd10 |
A |
T |
7: 112,929,085 (GRCm39) |
S230T |
possibly damaging |
Het |
Chd7 |
T |
C |
4: 8,753,141 (GRCm39) |
V546A |
probably damaging |
Het |
Defb13 |
T |
C |
8: 22,436,877 (GRCm39) |
|
probably benign |
Het |
F13a1 |
A |
T |
13: 37,152,079 (GRCm39) |
D237E |
probably damaging |
Het |
F8 |
T |
C |
X: 74,255,022 (GRCm39) |
Q2124R |
possibly damaging |
Het |
Hivep2 |
T |
C |
10: 14,007,622 (GRCm39) |
S1407P |
probably benign |
Het |
Hmgcs2 |
A |
G |
3: 98,198,369 (GRCm39) |
T91A |
probably benign |
Het |
Huwe1 |
T |
C |
X: 150,702,924 (GRCm39) |
I3463T |
probably benign |
Het |
Iars1 |
T |
C |
13: 49,855,995 (GRCm39) |
Y289H |
probably damaging |
Het |
Ints8 |
C |
A |
4: 11,246,097 (GRCm39) |
V190L |
probably benign |
Het |
Itgb1 |
T |
G |
8: 129,449,335 (GRCm39) |
Y585D |
possibly damaging |
Het |
Kif14 |
C |
T |
1: 136,396,840 (GRCm39) |
T382I |
probably benign |
Het |
Lypd10 |
T |
A |
7: 24,412,872 (GRCm39) |
D93E |
probably benign |
Het |
Me2 |
A |
G |
18: 73,903,744 (GRCm39) |
S575P |
probably benign |
Het |
Mgat4b |
T |
C |
11: 50,121,908 (GRCm39) |
V143A |
possibly damaging |
Het |
Mroh2a |
C |
A |
1: 88,183,287 (GRCm39) |
L1292I |
probably damaging |
Het |
Nek8 |
C |
T |
11: 78,062,033 (GRCm39) |
S237N |
probably benign |
Het |
Neto1 |
G |
A |
18: 86,479,445 (GRCm39) |
R211Q |
probably benign |
Het |
Nfatc2ip |
A |
G |
7: 125,990,507 (GRCm39) |
S165P |
probably benign |
Het |
Or1e34 |
T |
C |
11: 73,778,611 (GRCm39) |
M196V |
probably benign |
Het |
Or1e34 |
C |
T |
11: 73,778,656 (GRCm39) |
V181I |
probably benign |
Het |
Patj |
C |
A |
4: 98,555,885 (GRCm39) |
Q297K |
probably damaging |
Het |
Pde5a |
A |
G |
3: 122,542,107 (GRCm39) |
N199S |
probably damaging |
Het |
Pip4k2b |
A |
T |
11: 97,613,762 (GRCm39) |
|
probably benign |
Het |
Ptch1 |
A |
G |
13: 63,661,565 (GRCm39) |
V1054A |
possibly damaging |
Het |
Slc17a5 |
G |
A |
9: 78,485,956 (GRCm39) |
A43V |
probably damaging |
Het |
Spata20 |
T |
A |
11: 94,371,435 (GRCm39) |
D643V |
probably damaging |
Het |
Tars2 |
A |
T |
3: 95,655,869 (GRCm39) |
V289E |
probably benign |
Het |
Tmem135 |
A |
T |
7: 88,793,890 (GRCm39) |
I384N |
probably damaging |
Het |
Trip12 |
C |
T |
1: 84,736,771 (GRCm39) |
M816I |
probably benign |
Het |
Ulk2 |
T |
C |
11: 61,698,880 (GRCm39) |
|
probably benign |
Het |
Zzef1 |
T |
C |
11: 72,712,677 (GRCm39) |
V199A |
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 |
|
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 |
|
Predicted Primers |
PCR Primer
(F):5'- CTACTTTGCACAGTTTCCCAAAGGC -3'
(R):5'- TGACTCACGCACAGTTTCTCAGG -3'
Sequencing Primer
(F):5'- TCTGGCACATCCTCAGGAC -3'
(R):5'- GCACAGTTTCTCAGGTGGTC -3'
|
Posted On |
2014-08-19 |