Incidental Mutation 'R2187:Bfsp2'
| ID |
237877 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Bfsp2
|
| Ensembl Gene |
ENSMUSG00000032556 |
| Gene Name |
beaded filament structural protein 2, phakinin |
| Synonyms |
CP49 |
| MMRRC Submission |
040189-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.124)
|
| Stock # |
R2187 (G1)
|
| Quality Score |
214 |
|
Status
|
Not validated
|
| Chromosome |
9 |
| Chromosomal Location |
103302123-103357608 bp(-) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
T to A
at 103303976 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Stop codon
at position 343
(K343*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000116249
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000124310]
|
| AlphaFold |
Q6NVD9 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000124310
AA Change: K343*
|
| SMART Domains |
Protein: ENSMUSP00000116249
Gene: ENSMUSG00000032556
AA Change: K343*
| 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: ENSMUST00000189040
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000194378
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000195633
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000216687
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000216140
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.4%
|
| 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: 51 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcg1 |
T |
A |
17: 31,324,491 (GRCm39) |
S245R |
probably damaging |
Het |
| AI597479 |
T |
A |
1: 43,139,983 (GRCm39) |
W70R |
probably damaging |
Het |
| Ankrd55 |
A |
G |
13: 112,520,039 (GRCm39) |
S575G |
probably benign |
Het |
| Cant1 |
A |
T |
11: 118,299,667 (GRCm39) |
Y227* |
probably null |
Het |
| Cd2bp2 |
T |
C |
7: 126,793,963 (GRCm39) |
N109D |
probably benign |
Het |
| Chmp6 |
A |
G |
11: 119,807,562 (GRCm39) |
E135G |
possibly damaging |
Het |
| Dsp |
T |
G |
13: 38,360,383 (GRCm39) |
S329R |
probably damaging |
Het |
| Epha5 |
A |
T |
5: 84,234,223 (GRCm39) |
F767L |
probably damaging |
Het |
| Epha7 |
A |
T |
4: 28,942,648 (GRCm39) |
T566S |
possibly damaging |
Het |
| Erap1 |
A |
T |
13: 74,810,524 (GRCm39) |
I288F |
probably damaging |
Het |
| Erich6 |
A |
G |
3: 58,537,266 (GRCm39) |
|
probably null |
Het |
| Fbxo10 |
A |
G |
4: 45,058,531 (GRCm39) |
V402A |
probably benign |
Het |
| Fndc1 |
T |
A |
17: 7,960,604 (GRCm39) |
I1604F |
probably damaging |
Het |
| Foxd4 |
T |
G |
19: 24,877,219 (GRCm39) |
Q327P |
probably damaging |
Het |
| Fxn |
T |
A |
19: 24,257,853 (GRCm39) |
N26I |
probably benign |
Het |
| Hsf5 |
G |
T |
11: 87,529,010 (GRCm39) |
G582C |
possibly damaging |
Het |
| Itga8 |
A |
G |
2: 12,199,231 (GRCm39) |
V522A |
possibly damaging |
Het |
| Kplce |
A |
G |
3: 92,775,922 (GRCm39) |
S254P |
probably damaging |
Het |
| Lyst |
C |
T |
13: 13,883,926 (GRCm39) |
T2938I |
possibly damaging |
Het |
| Mib2 |
T |
C |
4: 155,739,390 (GRCm39) |
E863G |
possibly damaging |
Het |
| Mrgpra9 |
A |
G |
7: 46,884,797 (GRCm39) |
F290S |
probably damaging |
Het |
| Mst1 |
T |
C |
9: 107,961,539 (GRCm39) |
Y599H |
possibly damaging |
Het |
| Mylk4 |
T |
C |
13: 32,905,996 (GRCm39) |
I165V |
probably damaging |
Het |
| Nipsnap2 |
T |
C |
5: 129,823,537 (GRCm39) |
|
probably null |
Het |
| Nol8 |
T |
C |
13: 49,815,475 (GRCm39) |
Y528H |
probably benign |
Het |
| Nup93 |
T |
A |
8: 95,027,478 (GRCm39) |
S295R |
probably damaging |
Het |
| Nutm2 |
A |
T |
13: 50,621,453 (GRCm39) |
Q6L |
probably benign |
Het |
| Or2b6 |
A |
T |
13: 21,823,555 (GRCm39) |
I46N |
probably damaging |
Het |
| Or5ak20 |
T |
G |
2: 85,184,259 (GRCm39) |
S4R |
probably benign |
Het |
| Or5b12b |
T |
A |
19: 12,861,619 (GRCm39) |
C125S |
probably damaging |
Het |
| Or6c33 |
A |
G |
10: 129,853,557 (GRCm39) |
E109G |
probably damaging |
Het |
| Pip5k1a |
A |
T |
3: 94,979,229 (GRCm39) |
L189Q |
probably damaging |
Het |
| Plekha4 |
C |
T |
7: 45,198,698 (GRCm39) |
R574C |
probably damaging |
Het |
| Ppp2cb |
A |
G |
8: 34,100,705 (GRCm39) |
E42G |
possibly damaging |
Het |
| Prkd3 |
T |
A |
17: 79,282,983 (GRCm39) |
Q244L |
probably benign |
Het |
| Ptpn14 |
C |
T |
1: 189,595,425 (GRCm39) |
R1023* |
probably null |
Het |
| Ptpra |
A |
G |
2: 130,346,219 (GRCm39) |
T127A |
probably benign |
Het |
| Rad54l2 |
ACCTCCTCCTCCTCCTCCTCCTCCTC |
ACCTCCTCCTCCTCCTCCTCCTC |
9: 106,631,191 (GRCm39) |
|
probably benign |
Het |
| Rasgrf1 |
T |
C |
9: 89,876,888 (GRCm39) |
I751T |
possibly damaging |
Het |
| Rbm27 |
A |
G |
18: 42,459,022 (GRCm39) |
K697R |
probably damaging |
Het |
| Rhoa |
C |
T |
9: 108,212,352 (GRCm39) |
T127M |
probably benign |
Het |
| Rnpepl1 |
A |
G |
1: 92,844,617 (GRCm39) |
S370G |
probably null |
Het |
| Sdk1 |
C |
T |
5: 142,100,329 (GRCm39) |
T1453I |
probably damaging |
Het |
| Sel1l2 |
A |
G |
2: 140,072,793 (GRCm39) |
L614S |
probably damaging |
Het |
| Slc6a20b |
T |
A |
9: 123,427,653 (GRCm39) |
I419F |
probably damaging |
Het |
| Slc8a1 |
C |
T |
17: 81,955,982 (GRCm39) |
S352N |
possibly damaging |
Het |
| Spta1 |
A |
G |
1: 174,020,532 (GRCm39) |
D547G |
probably damaging |
Het |
| Tc2n |
G |
A |
12: 101,672,803 (GRCm39) |
T46I |
probably damaging |
Het |
| Terb1 |
T |
A |
8: 105,199,516 (GRCm39) |
Y476F |
probably benign |
Het |
| Trim12a |
T |
A |
7: 103,953,399 (GRCm39) |
E237D |
probably damaging |
Het |
| Usp47 |
T |
C |
7: 111,666,398 (GRCm39) |
L309P |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- GCCACATCCTTCTGTAGCTG -3'
(R):5'- AGACACATGCATTTCAGCTCCC -3'
Sequencing Primer
(F):5'- CTGTAGCTGGCTCTTGCACG -3'
(R):5'- GGCCATTCTCTCTTGCCCG -3'
|
| Posted On |
2014-10-02 |
Incidental Mutation