Incidental Mutation 'R4029:Bfsp1'
| ID |
313120 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Bfsp1
|
| Ensembl Gene |
ENSMUSG00000027420 |
| Gene Name |
beaded filament structural protein 1, in lens-CP94 |
| Synonyms |
filensin |
| MMRRC Submission |
040959-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.152)
|
| Stock # |
R4029 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
143668448-143705093 bp(-) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
G to A
at 143673749 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 |
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.0%
|
| Validation Efficiency |
100% (31/31) |
| 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: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acsm4 |
A |
G |
7: 119,293,008 (GRCm39) |
K46R |
probably benign |
Het |
| Ank |
A |
G |
15: 27,544,343 (GRCm39) |
N35D |
probably damaging |
Het |
| Atp9a |
A |
T |
2: 168,531,245 (GRCm39) |
I174N |
probably damaging |
Het |
| Cenpq |
T |
C |
17: 41,238,140 (GRCm39) |
T125A |
probably damaging |
Het |
| Dcun1d4 |
A |
G |
5: 73,691,980 (GRCm39) |
D89G |
probably damaging |
Het |
| Dip2b |
A |
G |
15: 100,084,053 (GRCm39) |
Y892C |
probably damaging |
Het |
| Dmrt2 |
T |
G |
19: 25,655,498 (GRCm39) |
S366A |
probably damaging |
Het |
| Exoc7 |
C |
T |
11: 116,197,814 (GRCm39) |
|
probably benign |
Het |
| Gabra4 |
G |
T |
5: 71,729,532 (GRCm39) |
T390K |
probably benign |
Het |
| Gpr68 |
A |
G |
12: 100,845,475 (GRCm39) |
L23P |
probably damaging |
Het |
| Krt17 |
T |
A |
11: 100,148,349 (GRCm39) |
N364I |
probably damaging |
Het |
| Lefty1 |
T |
C |
1: 180,765,346 (GRCm39) |
S305P |
probably benign |
Het |
| Ly6g6d |
T |
A |
17: 35,290,636 (GRCm39) |
Q98L |
probably benign |
Het |
| Muc6 |
G |
A |
7: 141,218,313 (GRCm39) |
S2120F |
possibly damaging |
Het |
| Nck2 |
T |
C |
1: 43,593,251 (GRCm39) |
F153L |
probably benign |
Het |
| Niban1 |
G |
A |
1: 151,571,441 (GRCm39) |
V239I |
probably benign |
Het |
| Nme4 |
T |
C |
17: 26,313,196 (GRCm39) |
|
probably null |
Het |
| Nup35 |
A |
G |
2: 80,483,318 (GRCm39) |
D172G |
probably benign |
Het |
| Obscn |
T |
C |
11: 59,022,472 (GRCm39) |
R758G |
possibly damaging |
Het |
| Oog4 |
A |
T |
4: 143,166,770 (GRCm39) |
N11K |
probably benign |
Het |
| Phlpp1 |
T |
A |
1: 106,320,279 (GRCm39) |
S1425T |
probably damaging |
Het |
| Pkd1l3 |
T |
A |
8: 110,350,603 (GRCm39) |
S483T |
possibly damaging |
Het |
| Pld2 |
A |
G |
11: 70,445,731 (GRCm39) |
N655S |
probably damaging |
Het |
| Pramel28 |
T |
A |
4: 143,692,354 (GRCm39) |
T216S |
probably benign |
Het |
| Psmd2 |
G |
A |
16: 20,481,955 (GRCm39) |
G896D |
probably damaging |
Het |
| Rcn1 |
G |
T |
2: 105,229,395 (GRCm39) |
Y52* |
probably null |
Het |
| Reck |
T |
C |
4: 43,922,931 (GRCm39) |
I402T |
probably damaging |
Het |
| Shisal2a |
G |
T |
4: 108,240,412 (GRCm39) |
C43* |
probably null |
Het |
| Ston2 |
T |
C |
12: 91,615,037 (GRCm39) |
Q457R |
possibly damaging |
Het |
| Syt10 |
T |
C |
15: 89,698,741 (GRCm39) |
E201G |
probably benign |
Het |
| Ube4a |
G |
A |
9: 44,861,198 (GRCm39) |
|
probably benign |
Het |
| Wdr49 |
C |
A |
3: 75,230,972 (GRCm39) |
L563F |
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 |
|
|
R3024:Bfsp1
|
UTSW |
2 |
143,687,879 (GRCm39) |
missense |
probably benign |
0.19 |
|
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'- CCCAAATCTCCAGTGGTCTG -3'
(R):5'- TTAAGCATGCTCATGAGTGTTACG -3'
Sequencing Primer
(F):5'- AAATCTCCAGTGGTCTGTCACG -3'
(R):5'- TCATGAGTGTTACGATGAGGAGCTAC -3'
|
| Posted On |
2015-04-30 |
Incidental Mutation