Incidental Mutation 'R6348:Bfsp2'
ID |
514448 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Bfsp2
|
Ensembl Gene |
ENSMUSG00000032556 |
Gene Name |
beaded filament structural protein 2, phakinin |
Synonyms |
CP49 |
MMRRC Submission |
044502-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.124)
|
Stock # |
R6348 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
9 |
Chromosomal Location |
103302123-103357608 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 103357271 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Aspartic acid
at position 52
(V52D)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000116249
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000049452]
[ENSMUST00000124310]
[ENSMUST00000189066]
[ENSMUST00000189588]
|
AlphaFold |
Q6NVD9 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000049452
|
SMART Domains |
Protein: ENSMUSP00000046021 Gene: ENSMUSG00000042757
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
28 |
N/A |
INTRINSIC |
Pfam:TMEM108
|
61 |
574 |
1.6e-275 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000124310
AA Change: V52D
PolyPhen 2
Score 0.170 (Sensitivity: 0.92; Specificity: 0.87)
|
SMART Domains |
Protein: ENSMUSP00000116249 Gene: ENSMUSG00000032556 AA Change: V52D
Domain | Start | End | E-Value | Type |
Filament
|
102 |
416 |
6.85e-79 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000144420
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000189066
|
SMART Domains |
Protein: ENSMUSP00000141160 Gene: ENSMUSG00000042757
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
28 |
N/A |
INTRINSIC |
low complexity region
|
132 |
179 |
N/A |
INTRINSIC |
low complexity region
|
292 |
314 |
N/A |
INTRINSIC |
low complexity region
|
391 |
410 |
N/A |
INTRINSIC |
transmembrane domain
|
468 |
490 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000189588
|
SMART Domains |
Protein: ENSMUSP00000140027 Gene: ENSMUSG00000042757
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
28 |
N/A |
INTRINSIC |
low complexity region
|
132 |
179 |
N/A |
INTRINSIC |
low complexity region
|
292 |
314 |
N/A |
INTRINSIC |
low complexity region
|
391 |
410 |
N/A |
INTRINSIC |
transmembrane domain
|
468 |
490 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000191069
|
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.3%
- 20x: 95.2%
|
Validation Efficiency |
100% (37/37) |
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] More than 99% of the vertebrate ocular lens is comprised of terminally differentiated lens fiber cells. Two lens-specific intermediate filament-like proteins, the protein product of this gene (phakinin), and filensin, are expressed only after fiber cell differentiation has begun. Both proteins are found in a structurally unique cytoskeletal element that is referred to as the beaded filament (BF). Mutations in this gene have been associated with juvenile-onset, progressive cataracts and Dowling-Meara epidermolysis bullosa simplex. [provided by RefSeq, Jun 2009] PHENOTYPE: Mutations at this locus result in eye abnormalities. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 37 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Alox5 |
A |
T |
6: 116,391,556 (GRCm39) |
H400Q |
probably damaging |
Het |
Arhgef16 |
G |
T |
4: 154,371,540 (GRCm39) |
Q218K |
probably benign |
Het |
Asxl3 |
A |
T |
18: 22,650,330 (GRCm39) |
H773L |
possibly damaging |
Het |
Atic |
C |
T |
1: 71,615,857 (GRCm39) |
R468W |
probably damaging |
Het |
Bicd2 |
A |
G |
13: 49,533,322 (GRCm39) |
H636R |
probably damaging |
Het |
Chac2 |
A |
G |
11: 30,927,406 (GRCm39) |
V171A |
probably damaging |
Het |
Chd9 |
A |
G |
8: 91,737,903 (GRCm39) |
I1512V |
possibly damaging |
Het |
Cnbd1 |
T |
C |
4: 18,860,462 (GRCm39) |
D428G |
probably damaging |
Het |
Crlf1 |
T |
C |
8: 70,945,990 (GRCm39) |
S22P |
probably benign |
Het |
Crybg1 |
A |
G |
10: 43,879,947 (GRCm39) |
F414L |
probably damaging |
Het |
Dnah14 |
A |
T |
1: 181,454,285 (GRCm39) |
D765V |
possibly damaging |
Het |
Fat3 |
A |
G |
9: 15,849,287 (GRCm39) |
|
probably null |
Het |
Gabbr1 |
A |
T |
17: 37,367,791 (GRCm39) |
M414L |
possibly damaging |
Het |
Grip2 |
A |
T |
6: 91,757,419 (GRCm39) |
D412E |
probably damaging |
Het |
Herc1 |
G |
A |
9: 66,395,258 (GRCm39) |
A4198T |
possibly damaging |
Het |
Hsd3b3 |
C |
T |
3: 98,663,265 (GRCm39) |
|
probably null |
Het |
Ifi213 |
G |
A |
1: 173,417,848 (GRCm39) |
T188I |
possibly damaging |
Het |
Il36rn |
G |
A |
2: 24,169,726 (GRCm39) |
A29T |
probably damaging |
Het |
Klk1b11 |
T |
C |
7: 43,647,275 (GRCm39) |
|
probably null |
Het |
Mepce |
A |
T |
5: 137,783,698 (GRCm39) |
D209E |
possibly damaging |
Het |
Mtr |
A |
C |
13: 12,262,840 (GRCm39) |
V111G |
possibly damaging |
Het |
Mtrex |
T |
A |
13: 113,047,451 (GRCm39) |
H298L |
possibly damaging |
Het |
Or2h1b |
A |
G |
17: 37,462,497 (GRCm39) |
V122A |
probably damaging |
Het |
Or8k24 |
T |
A |
2: 86,216,513 (GRCm39) |
Q83L |
probably benign |
Het |
Or9k2b |
A |
T |
10: 130,016,166 (GRCm39) |
N194K |
probably benign |
Het |
P2rx1 |
G |
A |
11: 72,890,148 (GRCm39) |
R3Q |
probably benign |
Het |
Phc2 |
G |
A |
4: 128,598,944 (GRCm39) |
G34S |
probably benign |
Het |
Poglut3 |
G |
A |
9: 53,301,740 (GRCm39) |
V131M |
probably damaging |
Het |
Ppm1a |
A |
G |
12: 72,837,449 (GRCm39) |
H332R |
probably benign |
Het |
Sdk2 |
A |
G |
11: 113,784,334 (GRCm39) |
V135A |
probably benign |
Het |
Slc2a4 |
T |
C |
11: 69,835,848 (GRCm39) |
T334A |
probably benign |
Het |
Slc6a15 |
T |
G |
10: 103,240,228 (GRCm39) |
V317G |
probably damaging |
Het |
Speer2 |
T |
C |
16: 69,654,895 (GRCm39) |
D190G |
possibly damaging |
Het |
Tbc1d21 |
G |
A |
9: 58,268,501 (GRCm39) |
A286V |
probably benign |
Het |
Tmem210 |
T |
C |
2: 25,178,796 (GRCm39) |
S82P |
probably benign |
Het |
Top6bl |
G |
C |
19: 4,722,106 (GRCm39) |
P105A |
probably damaging |
Het |
Zbtb26 |
C |
T |
2: 37,325,687 (GRCm39) |
V450M |
probably benign |
Het |
|
Other mutations in Bfsp2 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00809:Bfsp2
|
APN |
9 |
103,330,297 (GRCm39) |
missense |
possibly damaging |
0.90 |
IGL01160:Bfsp2
|
APN |
9 |
103,357,367 (GRCm39) |
missense |
probably benign |
0.02 |
R0408:Bfsp2
|
UTSW |
9 |
103,357,299 (GRCm39) |
missense |
probably benign |
0.06 |
R0463:Bfsp2
|
UTSW |
9 |
103,303,854 (GRCm39) |
missense |
possibly damaging |
0.94 |
R1454:Bfsp2
|
UTSW |
9 |
103,357,424 (GRCm39) |
start codon destroyed |
probably null |
0.59 |
R1854:Bfsp2
|
UTSW |
9 |
103,327,030 (GRCm39) |
missense |
probably benign |
0.01 |
R2139:Bfsp2
|
UTSW |
9 |
103,327,074 (GRCm39) |
missense |
probably benign |
0.19 |
R2187:Bfsp2
|
UTSW |
9 |
103,303,976 (GRCm39) |
nonsense |
probably null |
|
R3975:Bfsp2
|
UTSW |
9 |
103,357,271 (GRCm39) |
missense |
probably benign |
0.00 |
R4823:Bfsp2
|
UTSW |
9 |
103,357,082 (GRCm39) |
missense |
probably damaging |
1.00 |
R5035:Bfsp2
|
UTSW |
9 |
103,357,065 (GRCm39) |
missense |
probably benign |
0.35 |
R5973:Bfsp2
|
UTSW |
9 |
103,309,856 (GRCm39) |
critical splice donor site |
probably null |
|
R6005:Bfsp2
|
UTSW |
9 |
103,325,749 (GRCm39) |
missense |
probably damaging |
0.99 |
R6106:Bfsp2
|
UTSW |
9 |
103,357,023 (GRCm39) |
missense |
probably benign |
0.09 |
R6364:Bfsp2
|
UTSW |
9 |
103,325,827 (GRCm39) |
missense |
probably damaging |
0.98 |
R6701:Bfsp2
|
UTSW |
9 |
103,357,077 (GRCm39) |
missense |
possibly damaging |
0.68 |
R6736:Bfsp2
|
UTSW |
9 |
103,357,403 (GRCm39) |
missense |
possibly damaging |
0.60 |
R7129:Bfsp2
|
UTSW |
9 |
103,357,118 (GRCm39) |
missense |
probably damaging |
0.99 |
R7204:Bfsp2
|
UTSW |
9 |
103,309,865 (GRCm39) |
missense |
probably damaging |
0.99 |
R7329:Bfsp2
|
UTSW |
9 |
103,327,121 (GRCm39) |
missense |
probably benign |
0.01 |
R7453:Bfsp2
|
UTSW |
9 |
103,330,306 (GRCm39) |
missense |
probably damaging |
1.00 |
R8933:Bfsp2
|
UTSW |
9 |
103,325,848 (GRCm39) |
missense |
probably benign |
0.00 |
R8949:Bfsp2
|
UTSW |
9 |
103,327,152 (GRCm39) |
missense |
probably benign |
0.10 |
R9515:Bfsp2
|
UTSW |
9 |
103,357,251 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
Predicted Primers |
PCR Primer
(F):5'- ACAGTAGTGTGATCCCTTTCTG -3'
(R):5'- TGAATGCCCGAAGCTCATGG -3'
Sequencing Primer
(F):5'- TTTCTGGGCCCGGAGCAG -3'
(R):5'- TGGACCCTGTAAACCTGCCAG -3'
|
Posted On |
2018-04-27 |