Incidental Mutation 'IGL00809:Bfsp2'
| ID |
9264 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Bfsp2
|
| Ensembl Gene |
ENSMUSG00000032556 |
| Gene Name |
beaded filament structural protein 2, phakinin |
| Synonyms |
CP49 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.111)
|
| Stock # |
IGL00809
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
9 |
| Chromosomal Location |
103302123-103357608 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 103330297 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 180
(E180G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000116249
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000124310]
|
| AlphaFold |
Q6NVD9 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000124310
AA Change: E180G
PolyPhen 2
Score 0.899 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000116249
Gene: ENSMUSG00000032556
AA Change: E180G
| Domain | Start | End | E-Value | Type |
|---|
|
Filament
|
102 |
416 |
6.85e-79 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000136636
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000143564
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000145185
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000216140
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| 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: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4921539E11Rik |
T |
C |
4: 103,092,983 (GRCm39) |
T113A |
possibly damaging |
Het |
| Akap10 |
T |
A |
11: 61,805,897 (GRCm39) |
N277I |
possibly damaging |
Het |
| Ankrd24 |
A |
T |
10: 81,478,901 (GRCm39) |
|
probably benign |
Het |
| Cd55 |
A |
T |
1: 130,380,248 (GRCm39) |
Y243* |
probably null |
Het |
| Col17a1 |
G |
T |
19: 47,669,842 (GRCm39) |
H103Q |
probably damaging |
Het |
| Diaph3 |
A |
T |
14: 87,237,463 (GRCm39) |
H311Q |
probably damaging |
Het |
| Dnah1 |
G |
A |
14: 31,022,766 (GRCm39) |
Q1124* |
probably null |
Het |
| Faim |
G |
A |
9: 98,874,218 (GRCm39) |
G15R |
probably damaging |
Het |
| Fzr1 |
G |
T |
10: 81,206,359 (GRCm39) |
S137* |
probably null |
Het |
| Gnl3 |
A |
G |
14: 30,736,146 (GRCm39) |
I298T |
possibly damaging |
Het |
| Hnrnpa2b1 |
C |
T |
6: 51,443,993 (GRCm39) |
G65S |
probably damaging |
Het |
| Hsd17b7 |
A |
T |
1: 169,793,324 (GRCm39) |
Y88* |
probably null |
Het |
| Itga2 |
C |
A |
13: 115,014,161 (GRCm39) |
A256S |
probably damaging |
Het |
| Itga7 |
T |
C |
10: 128,775,038 (GRCm39) |
|
probably null |
Het |
| Ivl |
T |
A |
3: 92,479,819 (GRCm39) |
Q82L |
possibly damaging |
Het |
| Lin28a |
C |
T |
4: 133,735,367 (GRCm39) |
G90S |
probably damaging |
Het |
| Lkaaear1 |
A |
T |
2: 181,339,127 (GRCm39) |
S108T |
probably benign |
Het |
| Mfsd11 |
T |
A |
11: 116,750,177 (GRCm39) |
S105T |
probably damaging |
Het |
| Osbpl9 |
C |
T |
4: 108,990,960 (GRCm39) |
R100H |
probably damaging |
Het |
| Pals2 |
C |
T |
6: 50,173,569 (GRCm39) |
R478C |
probably benign |
Het |
| Pclo |
T |
A |
5: 14,725,811 (GRCm39) |
D1556E |
unknown |
Het |
| Phip |
G |
A |
9: 82,753,356 (GRCm39) |
S1796F |
probably damaging |
Het |
| Phtf1 |
T |
C |
3: 103,895,983 (GRCm39) |
S226P |
probably benign |
Het |
| Rapgef6 |
C |
A |
11: 54,540,126 (GRCm39) |
Q734K |
probably damaging |
Het |
| Scn9a |
A |
T |
2: 66,314,279 (GRCm39) |
I1802N |
probably damaging |
Het |
| Slit2 |
G |
A |
5: 48,146,493 (GRCm39) |
E95K |
possibly damaging |
Het |
| Stab2 |
A |
T |
10: 86,684,038 (GRCm39) |
|
probably benign |
Het |
| Trpc7 |
T |
C |
13: 56,970,301 (GRCm39) |
I373V |
probably benign |
Het |
| Ttbk2 |
T |
A |
2: 120,590,750 (GRCm39) |
D303V |
probably damaging |
Het |
| Ylpm1 |
T |
C |
12: 85,095,968 (GRCm39) |
I1163T |
probably damaging |
Het |
|
| Other mutations in Bfsp2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
R6348:Bfsp2
|
UTSW |
9 |
103,357,271 (GRCm39) |
missense |
probably benign |
0.17 |
|
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 |
|
| Posted On |
2012-12-06 |
Incidental Mutation