Incidental Mutation 'R6106:Bfsp2'
ID |
485516 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Bfsp2
|
Ensembl Gene |
ENSMUSG00000032556 |
Gene Name |
beaded filament structural protein 2, phakinin |
Synonyms |
CP49 |
MMRRC Submission |
044256-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.111)
|
Stock # |
R6106 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
9 |
Chromosomal Location |
103302123-103357608 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 103357023 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Serine
at position 135
(T135S)
|
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: T135S
PolyPhen 2
Score 0.095 (Sensitivity: 0.93; Specificity: 0.85)
|
SMART Domains |
Protein: ENSMUSP00000116249 Gene: ENSMUSG00000032556 AA Change: T135S
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: 95.3%
|
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: 46 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ace |
A |
G |
11: 105,879,838 (GRCm39) |
E726G |
probably damaging |
Het |
Adgrl4 |
A |
G |
3: 151,246,622 (GRCm39) |
I641V |
possibly damaging |
Het |
Apoa5 |
A |
T |
9: 46,181,931 (GRCm39) |
R336* |
probably null |
Het |
Calhm2 |
A |
T |
19: 47,121,501 (GRCm39) |
Y223N |
probably damaging |
Het |
Ccdc158 |
T |
C |
5: 92,775,325 (GRCm39) |
E960G |
probably benign |
Het |
Ccdc80 |
T |
C |
16: 44,917,073 (GRCm39) |
S610P |
probably benign |
Het |
Cdon |
T |
A |
9: 35,366,704 (GRCm39) |
Y193* |
probably null |
Het |
Cept1 |
A |
T |
3: 106,410,992 (GRCm39) |
H400Q |
probably benign |
Het |
Cfap144 |
T |
C |
11: 58,687,427 (GRCm39) |
E66G |
probably damaging |
Het |
Clspn |
T |
A |
4: 126,484,434 (GRCm39) |
N1197K |
probably benign |
Het |
Cnot8 |
T |
C |
11: 58,004,816 (GRCm39) |
S172P |
probably damaging |
Het |
Col14a1 |
T |
C |
15: 55,383,404 (GRCm39) |
I1794T |
probably damaging |
Het |
Cracdl |
T |
C |
1: 37,652,493 (GRCm39) |
T1105A |
possibly damaging |
Het |
Fam193a |
A |
T |
5: 34,616,374 (GRCm39) |
T564S |
possibly damaging |
Het |
Galnt1 |
G |
A |
18: 24,387,720 (GRCm39) |
V154I |
probably benign |
Het |
Gstcd |
C |
A |
3: 132,704,675 (GRCm39) |
E526D |
probably benign |
Het |
Ighv1-42 |
A |
C |
12: 114,900,907 (GRCm39) |
S59R |
probably benign |
Het |
Morn3 |
A |
G |
5: 123,184,823 (GRCm39) |
C6R |
possibly damaging |
Het |
Nrdc |
A |
T |
4: 108,901,782 (GRCm39) |
K617M |
probably damaging |
Het |
Or2aj4 |
A |
G |
16: 19,385,009 (GRCm39) |
L208P |
probably damaging |
Het |
Or51ai2 |
A |
G |
7: 103,587,400 (GRCm39) |
H271R |
probably benign |
Het |
Or8b36 |
T |
A |
9: 37,937,762 (GRCm39) |
I220N |
probably damaging |
Het |
Or8b49 |
T |
C |
9: 38,506,252 (GRCm39) |
M245T |
probably benign |
Het |
Pcdhb11 |
A |
G |
18: 37,556,056 (GRCm39) |
N462S |
probably damaging |
Het |
Pfpl |
G |
T |
19: 12,406,825 (GRCm39) |
D359Y |
probably damaging |
Het |
Phyhip |
T |
C |
14: 70,699,299 (GRCm39) |
V34A |
probably benign |
Het |
Pigu |
A |
T |
2: 155,139,116 (GRCm39) |
I313N |
possibly damaging |
Het |
Plch1 |
C |
T |
3: 63,609,444 (GRCm39) |
R912H |
probably damaging |
Het |
Psg16 |
T |
A |
7: 16,829,091 (GRCm39) |
F225Y |
possibly damaging |
Het |
Setdb2 |
T |
A |
14: 59,660,898 (GRCm39) |
K82* |
probably null |
Het |
Sgms1 |
A |
G |
19: 32,101,825 (GRCm39) |
S394P |
possibly damaging |
Het |
Slc16a1 |
T |
C |
3: 104,560,310 (GRCm39) |
L205P |
probably benign |
Het |
Slc19a1 |
T |
A |
10: 76,880,603 (GRCm39) |
I380N |
probably damaging |
Het |
Snx32 |
A |
G |
19: 5,548,042 (GRCm39) |
I131T |
probably benign |
Het |
Sorbs3 |
T |
C |
14: 70,430,053 (GRCm39) |
|
probably null |
Het |
Stc2 |
T |
A |
11: 31,310,392 (GRCm39) |
I215L |
probably benign |
Het |
Tln2 |
C |
T |
9: 67,230,302 (GRCm39) |
A84T |
probably damaging |
Het |
Tomm34 |
A |
G |
2: 163,902,911 (GRCm39) |
M133T |
probably benign |
Het |
Usp43 |
A |
G |
11: 67,770,733 (GRCm39) |
S634P |
probably benign |
Het |
Vmn2r59 |
T |
A |
7: 41,661,749 (GRCm39) |
R689* |
probably null |
Het |
Vmn2r9 |
C |
T |
5: 108,992,902 (GRCm39) |
R536Q |
probably benign |
Het |
Wdr24 |
C |
T |
17: 26,043,579 (GRCm39) |
H134Y |
probably benign |
Het |
Zfhx2 |
T |
A |
14: 55,305,767 (GRCm39) |
|
probably null |
Het |
Zfp1004 |
A |
G |
2: 150,034,725 (GRCm39) |
K349E |
probably damaging |
Het |
Zfp608 |
G |
T |
18: 55,120,944 (GRCm39) |
H214Q |
possibly damaging |
Het |
Zfp619 |
T |
C |
7: 39,184,558 (GRCm39) |
V196A |
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 |
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'- TGGCAGCCAGTGTTAACAC -3'
(R):5'- TGGGCATCAGCAGTGTCTTTC -3'
Sequencing Primer
(F):5'- ATGGAAGAGATCTACTTCCCTGGC -3'
(R):5'- CATCAGCAGTGTCTTTCTACAGGG -3'
|
Posted On |
2017-08-16 |