Incidental Mutation 'R5825:Bfsp1'
| ID |
450108 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Bfsp1
|
| Ensembl Gene |
ENSMUSG00000027420 |
| Gene Name |
beaded filament structural protein 1, in lens-CP94 |
| Synonyms |
filensin |
| MMRRC Submission |
044053-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.152)
|
| Stock # |
R5825 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
143668448-143705093 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 143669379 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glycine to Aspartic acid
at position 400
(G400D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000028907
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028907]
[ENSMUST00000099296]
|
| AlphaFold |
A2AMT1 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000028907
AA Change: G400D
PolyPhen 2
Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)
|
| SMART Domains |
Protein: ENSMUSP00000028907
Gene: ENSMUSG00000027420
AA Change: G400D
| 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: G406D
PolyPhen 2
Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
|
| SMART Domains |
Protein: ENSMUSP00000096899
Gene: ENSMUSG00000027420
AA Change: G406D
| 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: 99.8%
- 3x: 99.1%
- 10x: 95.3%
- 20x: 83.6%
|
| 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: 49 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A1bg |
A |
T |
15: 60,791,976 (GRCm39) |
Y217* |
probably null |
Het |
| Abca2 |
A |
T |
2: 25,326,748 (GRCm39) |
I567F |
probably benign |
Het |
| Acss2 |
T |
A |
2: 155,391,098 (GRCm39) |
|
probably null |
Het |
| Atxn7l2 |
C |
A |
3: 108,112,127 (GRCm39) |
A320S |
probably damaging |
Het |
| Ces5a |
G |
T |
8: 94,252,295 (GRCm39) |
A199D |
probably damaging |
Het |
| Cfhr4 |
T |
A |
1: 139,702,336 (GRCm39) |
|
probably null |
Het |
| Chd2 |
A |
T |
7: 73,134,350 (GRCm39) |
|
probably null |
Het |
| Crebbp |
A |
G |
16: 3,905,606 (GRCm39) |
V1705A |
probably damaging |
Het |
| Cyp2j8 |
T |
A |
4: 96,395,451 (GRCm39) |
Q58L |
probably benign |
Het |
| Dlec1 |
T |
A |
9: 118,972,036 (GRCm39) |
I1379N |
probably damaging |
Het |
| Dnah9 |
T |
C |
11: 66,017,427 (GRCm39) |
H593R |
probably benign |
Het |
| Ep300 |
T |
A |
15: 81,495,673 (GRCm39) |
C412S |
probably benign |
Het |
| Fam110a |
A |
G |
2: 151,811,961 (GRCm39) |
S270P |
probably damaging |
Het |
| Gcc2 |
A |
G |
10: 58,130,643 (GRCm39) |
T1412A |
probably damaging |
Het |
| Helz2 |
T |
C |
2: 180,874,449 (GRCm39) |
E2015G |
probably benign |
Het |
| Hormad1 |
T |
C |
3: 95,469,870 (GRCm39) |
V39A |
probably damaging |
Het |
| Igf2 |
G |
T |
7: 142,207,592 (GRCm39) |
H168Q |
probably damaging |
Het |
| Il18rap |
A |
G |
1: 40,570,726 (GRCm39) |
T223A |
probably benign |
Het |
| Itpr2 |
T |
C |
6: 146,045,647 (GRCm39) |
E2573G |
probably damaging |
Het |
| Jcad |
T |
A |
18: 4,674,896 (GRCm39) |
V886E |
probably benign |
Het |
| Klra1 |
T |
C |
6: 130,357,592 (GRCm39) |
R12G |
probably damaging |
Het |
| Lamb1 |
A |
G |
12: 31,368,613 (GRCm39) |
I1248V |
probably benign |
Het |
| Lgr6 |
C |
T |
1: 134,921,748 (GRCm39) |
A199T |
probably damaging |
Het |
| Mapk7 |
C |
T |
11: 61,381,207 (GRCm39) |
R465Q |
possibly damaging |
Het |
| Mogs |
T |
C |
6: 83,095,193 (GRCm39) |
V670A |
possibly damaging |
Het |
| Mroh2a |
C |
T |
1: 88,158,402 (GRCm39) |
R150* |
probably null |
Het |
| Ninl |
A |
T |
2: 150,782,644 (GRCm39) |
I1182N |
probably damaging |
Het |
| Nup160 |
A |
G |
2: 90,510,114 (GRCm39) |
|
probably null |
Het |
| Nynrin |
A |
G |
14: 56,101,683 (GRCm39) |
R451G |
probably benign |
Het |
| Or12e7 |
A |
G |
2: 87,287,794 (GRCm39) |
D95G |
probably benign |
Het |
| Or5h22 |
T |
C |
16: 58,895,024 (GRCm39) |
I140V |
probably benign |
Het |
| Osbp |
A |
G |
19: 11,948,085 (GRCm39) |
T131A |
probably damaging |
Het |
| Pcdhga12 |
A |
C |
18: 37,901,556 (GRCm39) |
D796A |
possibly damaging |
Het |
| Pcdhgb8 |
G |
A |
18: 37,895,289 (GRCm39) |
V120I |
probably benign |
Het |
| Pdgfb |
A |
T |
15: 79,881,869 (GRCm39) |
V213E |
probably benign |
Het |
| Phldb2 |
T |
C |
16: 45,583,460 (GRCm39) |
M1013V |
probably benign |
Het |
| Pnma8a |
A |
G |
7: 16,695,020 (GRCm39) |
S292G |
probably benign |
Het |
| Prrt4 |
A |
G |
6: 29,177,182 (GRCm39) |
S196P |
probably benign |
Het |
| Rap1gds1 |
T |
C |
3: 138,661,136 (GRCm39) |
M463V |
possibly damaging |
Het |
| Tmprss11g |
A |
T |
5: 86,646,392 (GRCm39) |
S58R |
probably damaging |
Het |
| Traf3 |
C |
A |
12: 111,221,795 (GRCm39) |
Q319K |
probably benign |
Het |
| Trappc8 |
C |
T |
18: 21,006,977 (GRCm39) |
V194M |
probably damaging |
Het |
| Tyw1 |
A |
G |
5: 130,296,929 (GRCm39) |
K182R |
probably damaging |
Het |
| Usp48 |
A |
G |
4: 137,350,689 (GRCm39) |
T585A |
probably benign |
Het |
| Xkr6 |
G |
T |
14: 64,056,481 (GRCm39) |
V387L |
probably benign |
Het |
| Yod1 |
T |
C |
1: 130,646,743 (GRCm39) |
W207R |
probably damaging |
Het |
| Zdhhc8 |
T |
C |
16: 18,046,538 (GRCm39) |
S63G |
probably null |
Het |
| Zfp827 |
A |
G |
8: 79,905,645 (GRCm39) |
E874G |
probably damaging |
Het |
| Zfy1 |
T |
A |
Y: 726,531 (GRCm39) |
K411N |
possibly damaging |
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 |
|
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'- ACTCCCCTGTGACGAGTACATG -3'
(R):5'- CCATTAGATCTTGCCAGGGC -3'
Sequencing Primer
(F):5'- ACATGCCGTCCTTTGGTGAAAAG -3'
(R):5'- CCGTGCAGGATATTACAGCAGC -3'
|
| Posted On |
2016-12-20 |
Incidental Mutation