Incidental Mutation 'R5035:Bfsp2'
ID |
389507 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Bfsp2
|
Ensembl Gene |
ENSMUSG00000032556 |
Gene Name |
beaded filament structural protein 2, phakinin |
Synonyms |
CP49 |
MMRRC Submission |
042626-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.124)
|
Stock # |
R5035 (G1)
|
Quality Score |
204 |
Status
|
Validated
|
Chromosome |
9 |
Chromosomal Location |
103302123-103357608 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to G
at 103357065 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Proline
at position 121
(T121P)
|
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: T121P
PolyPhen 2
Score 0.355 (Sensitivity: 0.90; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000116249 Gene: ENSMUSG00000032556 AA Change: T121P
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
|
Meta Mutation Damage Score |
0.0898 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.8%
- 20x: 93.8%
|
Validation Efficiency |
98% (46/47) |
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: 42 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acat1 |
T |
C |
9: 53,494,810 (GRCm39) |
I361V |
probably benign |
Het |
Afp |
A |
G |
5: 90,655,764 (GRCm39) |
D583G |
probably benign |
Het |
Bcas3 |
C |
T |
11: 85,434,771 (GRCm39) |
A552V |
probably damaging |
Het |
Bicra |
C |
T |
7: 15,713,349 (GRCm39) |
R951Q |
possibly damaging |
Het |
Cdc40 |
G |
A |
10: 40,725,809 (GRCm39) |
T220I |
probably benign |
Het |
Cdk5rap3 |
T |
C |
11: 96,806,911 (GRCm39) |
|
probably benign |
Het |
Clcnka |
A |
T |
4: 141,122,469 (GRCm39) |
Y179* |
probably null |
Het |
Creb3l1 |
T |
A |
2: 91,817,431 (GRCm39) |
I361F |
probably benign |
Het |
Csmd3 |
T |
C |
15: 47,454,175 (GRCm39) |
Y3557C |
probably damaging |
Het |
Dab2ip |
A |
G |
2: 35,599,953 (GRCm39) |
S190G |
probably benign |
Het |
Dbx1 |
T |
C |
7: 49,282,284 (GRCm39) |
H307R |
unknown |
Het |
Dock8 |
C |
A |
19: 25,063,571 (GRCm39) |
P258T |
probably damaging |
Het |
Eml6 |
T |
C |
11: 29,804,187 (GRCm39) |
I305V |
probably benign |
Het |
Frem3 |
T |
A |
8: 81,342,543 (GRCm39) |
F1612Y |
probably damaging |
Het |
Fubp1 |
A |
G |
3: 151,920,488 (GRCm39) |
T76A |
probably benign |
Het |
Glmp |
G |
C |
3: 88,233,951 (GRCm39) |
|
probably benign |
Het |
Gm20918 |
A |
G |
Y: 5,045,992 (GRCm39) |
Q183R |
probably benign |
Het |
Krt28 |
T |
C |
11: 99,257,650 (GRCm39) |
N397S |
probably benign |
Het |
Lin9 |
T |
A |
1: 180,496,763 (GRCm39) |
L351I |
probably benign |
Het |
Map3k13 |
T |
C |
16: 21,740,421 (GRCm39) |
Y583H |
probably benign |
Het |
Mcm3 |
A |
T |
1: 20,873,642 (GRCm39) |
|
probably benign |
Het |
Misp |
T |
C |
10: 79,663,790 (GRCm39) |
V588A |
probably benign |
Het |
Or1j19 |
A |
G |
2: 36,676,903 (GRCm39) |
D122G |
probably damaging |
Het |
Or2z9 |
T |
A |
8: 72,853,922 (GRCm39) |
L106H |
probably damaging |
Het |
Or4c105 |
A |
T |
2: 88,648,443 (GRCm39) |
K309N |
probably benign |
Het |
Or51a43 |
G |
A |
7: 103,717,614 (GRCm39) |
T208I |
possibly damaging |
Het |
Or8g37 |
G |
A |
9: 39,731,390 (GRCm39) |
A152T |
possibly damaging |
Het |
Osbpl9 |
A |
G |
4: 108,923,364 (GRCm39) |
F449L |
probably damaging |
Het |
Pkhd1l1 |
A |
G |
15: 44,431,720 (GRCm39) |
D3358G |
probably damaging |
Het |
Prodh2 |
A |
T |
7: 30,205,904 (GRCm39) |
S247C |
possibly damaging |
Het |
Prr23a3 |
G |
A |
9: 98,747,183 (GRCm39) |
E46K |
possibly damaging |
Het |
Ptprz1 |
A |
G |
6: 23,016,214 (GRCm39) |
I837V |
probably benign |
Het |
Rabgap1l |
A |
C |
1: 160,551,606 (GRCm39) |
F263V |
probably damaging |
Het |
Rnf4 |
A |
G |
5: 34,508,683 (GRCm39) |
K182E |
probably damaging |
Het |
Slc24a2 |
G |
T |
4: 86,929,943 (GRCm39) |
R469S |
possibly damaging |
Het |
Speer2 |
A |
G |
16: 69,654,829 (GRCm39) |
|
probably null |
Het |
Tg |
C |
A |
15: 66,553,662 (GRCm39) |
|
probably null |
Het |
Tns1 |
G |
A |
1: 73,992,979 (GRCm39) |
|
probably benign |
Het |
Top2b |
G |
T |
14: 16,409,966 (GRCm38) |
A878S |
probably benign |
Het |
Trgc4 |
G |
T |
13: 19,536,506 (GRCm39) |
R188L |
unknown |
Het |
Ugt3a1 |
G |
A |
15: 9,361,704 (GRCm39) |
R160Q |
probably benign |
Het |
Ush2a |
G |
T |
1: 188,643,005 (GRCm39) |
L4122F |
probably damaging |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- AAGAGATCTACTTCCCTGGCCTC -3'
(R):5'- TATGTAGGAGTCGCACCCAG -3'
Sequencing Primer
(F):5'- GATCACCCACCATCTTTGCTG -3'
(R):5'- ACCCAGTGGTGGCATAGGTG -3'
|
Posted On |
2016-06-06 |