Incidental Mutation 'IGL01640:Fnbp1'
| ID |
93100 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Fnbp1
|
| Ensembl Gene |
ENSMUSG00000075415 |
| Gene Name |
formin binding protein 1 |
| Synonyms |
FBP17, 2210010H06Rik, FBP1, 1110057E06Rik |
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.552)
|
| Stock # |
IGL01640
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
30916218-31032020 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 30995303 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Leucine
at position 44
(F44L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000121282
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000073879]
[ENSMUST00000075326]
[ENSMUST00000100207]
[ENSMUST00000100208]
[ENSMUST00000113552]
[ENSMUST00000113555]
[ENSMUST00000113560]
[ENSMUST00000113564]
[ENSMUST00000113562]
[ENSMUST00000149196]
[ENSMUST00000136181]
|
| AlphaFold |
Q80TY0 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000073879
AA Change: F31L
PolyPhen 2
Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000109188
Gene: ENSMUSG00000075415
AA Change: F31L
| Domain | Start | End | E-Value | Type |
|---|
|
FCH
|
1 |
94 |
4.11e-21 |
SMART |
|
low complexity region
|
172 |
181 |
N/A |
INTRINSIC |
|
PDB:2KE4|A
|
333 |
419 |
1e-26 |
PDB |
|
low complexity region
|
471 |
480 |
N/A |
INTRINSIC |
|
SH3
|
486 |
543 |
3.2e-15 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000075326
AA Change: F31L
PolyPhen 2
Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000074796
Gene: ENSMUSG00000075415
AA Change: F31L
| Domain | Start | End | E-Value | Type |
|---|
|
FCH
|
1 |
94 |
4.11e-21 |
SMART |
|
low complexity region
|
172 |
181 |
N/A |
INTRINSIC |
|
PDB:2KE4|A
|
360 |
451 |
1e-26 |
PDB |
|
low complexity region
|
503 |
512 |
N/A |
INTRINSIC |
|
SH3
|
518 |
575 |
3.2e-15 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000100207
AA Change: F31L
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000097781
Gene: ENSMUSG00000075415
AA Change: F31L
| Domain | Start | End | E-Value | Type |
|---|
|
FCH
|
1 |
94 |
4.11e-21 |
SMART |
|
low complexity region
|
172 |
181 |
N/A |
INTRINSIC |
|
PDB:2KE4|A
|
338 |
424 |
1e-26 |
PDB |
|
low complexity region
|
476 |
485 |
N/A |
INTRINSIC |
|
SH3
|
491 |
548 |
3.2e-15 |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000100208
AA Change: F31L
PolyPhen 2
Score 0.935 (Sensitivity: 0.80; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000097782
Gene: ENSMUSG00000075415
AA Change: F31L
| Domain | Start | End | E-Value | Type |
|---|
|
FCH
|
1 |
94 |
4.11e-21 |
SMART |
|
low complexity region
|
172 |
181 |
N/A |
INTRINSIC |
|
low complexity region
|
339 |
351 |
N/A |
INTRINSIC |
|
PDB:2KE4|A
|
394 |
480 |
2e-26 |
PDB |
|
low complexity region
|
532 |
541 |
N/A |
INTRINSIC |
|
SH3
|
547 |
604 |
3.2e-15 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000113552
AA Change: F31L
PolyPhen 2
Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000109181
Gene: ENSMUSG00000075415
AA Change: F31L
| Domain | Start | End | E-Value | Type |
|---|
|
FCH
|
1 |
94 |
4.11e-21 |
SMART |
|
low complexity region
|
172 |
181 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000113555
AA Change: F31L
PolyPhen 2
Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000109184
Gene: ENSMUSG00000075415
AA Change: F31L
| Domain | Start | End | E-Value | Type |
|---|
|
FCH
|
1 |
94 |
4.11e-21 |
SMART |
|
low complexity region
|
172 |
181 |
N/A |
INTRINSIC |
|
PDB:2KE4|A
|
370 |
456 |
1e-26 |
PDB |
|
low complexity region
|
508 |
517 |
N/A |
INTRINSIC |
|
SH3
|
523 |
580 |
3.2e-15 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000113560
AA Change: F31L
PolyPhen 2
Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000109190
Gene: ENSMUSG00000075415
AA Change: F31L
| Domain | Start | End | E-Value | Type |
|---|
|
FCH
|
1 |
94 |
4.11e-21 |
SMART |
|
low complexity region
|
172 |
181 |
N/A |
INTRINSIC |
|
low complexity region
|
339 |
351 |
N/A |
INTRINSIC |
|
PDB:2KE4|A
|
399 |
485 |
2e-26 |
PDB |
|
low complexity region
|
537 |
546 |
N/A |
INTRINSIC |
|
SH3
|
552 |
609 |
3.2e-15 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000113564
AA Change: F31L
PolyPhen 2
Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000109194
Gene: ENSMUSG00000075415
AA Change: F31L
| Domain | Start | End | E-Value | Type |
|---|
|
FCH
|
1 |
94 |
4.11e-21 |
SMART |
|
low complexity region
|
172 |
181 |
N/A |
INTRINSIC |
|
PDB:2KE4|A
|
333 |
419 |
1e-26 |
PDB |
|
low complexity region
|
472 |
481 |
N/A |
INTRINSIC |
|
SH3
|
487 |
544 |
3.2e-15 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000113562
AA Change: F31L
PolyPhen 2
Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000109192
Gene: ENSMUSG00000075415
AA Change: F31L
| Domain | Start | End | E-Value | Type |
|---|
|
FCH
|
1 |
94 |
4.11e-21 |
SMART |
|
low complexity region
|
172 |
181 |
N/A |
INTRINSIC |
|
PDB:2KE4|A
|
333 |
419 |
1e-26 |
PDB |
|
low complexity region
|
471 |
480 |
N/A |
INTRINSIC |
|
SH3
|
486 |
543 |
3.2e-15 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000149196
AA Change: F44L
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000121282
Gene: ENSMUSG00000075415
AA Change: F44L
| Domain | Start | End | E-Value | Type |
|---|
|
FCH
|
14 |
107 |
8.88e-17 |
SMART |
|
low complexity region
|
185 |
194 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000136181
AA Change: F31L
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000120580
Gene: ENSMUSG00000075415
AA Change: F31L
| Domain | Start | End | E-Value | Type |
|---|
|
FCH
|
1 |
94 |
4.11e-21 |
SMART |
|
low complexity region
|
116 |
125 |
N/A |
INTRINSIC |
|
PDB:2EFL|A
|
126 |
160 |
1e-13 |
PDB |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000128500
AA Change: F21L
|
| SMART Domains |
Protein: ENSMUSP00000115013
Gene: ENSMUSG00000075415
AA Change: F21L
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:FCH
|
1 |
80 |
7.7e-20 |
PFAM |
|
PDB:2KE4|A
|
167 |
253 |
2e-27 |
PDB |
|
low complexity region
|
305 |
314 |
N/A |
INTRINSIC |
|
SH3
|
320 |
377 |
3.2e-15 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000136085
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a member of the formin-binding-protein family. The protein contains an N-terminal Fer/Cdc42-interacting protein 4 (CIP4) homology (FCH) domain followed by a coiled-coil domain, a proline-rich motif, a second coiled-coil domain, a Rho family protein-binding domain (RBD), and a C-terminal SH3 domain. This protein binds sorting nexin 2 (SNX2), tankyrase (TNKS), and dynamin; an interaction between this protein and formin has not been demonstrated yet in human. [provided by RefSeq, Jul 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 33 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700003H04Rik |
T |
C |
3: 124,373,587 (GRCm39) |
T3A |
probably damaging |
Het |
| 4933402N03Rik |
A |
T |
7: 130,740,848 (GRCm39) |
S123T |
possibly damaging |
Het |
| Adamts17 |
A |
T |
7: 66,679,428 (GRCm39) |
T559S |
probably damaging |
Het |
| Adh4 |
C |
T |
3: 138,134,788 (GRCm39) |
|
probably benign |
Het |
| Arel1 |
G |
A |
12: 84,967,475 (GRCm39) |
T783M |
probably damaging |
Het |
| B3gntl1 |
C |
T |
11: 121,563,846 (GRCm39) |
E5K |
probably benign |
Het |
| Faf1 |
T |
A |
4: 109,697,600 (GRCm39) |
F309I |
probably damaging |
Het |
| Fhod3 |
T |
G |
18: 25,248,850 (GRCm39) |
M1343R |
probably benign |
Het |
| Gm3633 |
A |
T |
14: 42,460,324 (GRCm39) |
Y206* |
probably null |
Het |
| Gprc6a |
A |
C |
10: 51,503,180 (GRCm39) |
F228V |
probably damaging |
Het |
| Il31ra |
T |
C |
13: 112,668,292 (GRCm39) |
I453V |
possibly damaging |
Het |
| Kif2a |
A |
G |
13: 107,111,060 (GRCm39) |
I529T |
probably damaging |
Het |
| Lrrc19 |
C |
T |
4: 94,526,745 (GRCm39) |
V271I |
probably damaging |
Het |
| Ncaph2 |
A |
G |
15: 89,248,041 (GRCm39) |
|
probably null |
Het |
| Nek5 |
A |
G |
8: 22,610,856 (GRCm39) |
I49T |
probably benign |
Het |
| Nhlrc3 |
A |
T |
3: 53,360,958 (GRCm39) |
|
probably benign |
Het |
| Or51ac3 |
A |
G |
7: 103,214,228 (GRCm39) |
V86A |
probably damaging |
Het |
| Or52n20 |
A |
T |
7: 104,320,871 (GRCm39) |
S321C |
probably damaging |
Het |
| Or8g28 |
C |
A |
9: 39,169,559 (GRCm39) |
M136I |
probably damaging |
Het |
| Pcnx2 |
T |
C |
8: 126,528,297 (GRCm39) |
T1308A |
probably benign |
Het |
| Pla2g6 |
T |
C |
15: 79,188,513 (GRCm39) |
N448S |
probably benign |
Het |
| Pole |
T |
A |
5: 110,446,132 (GRCm39) |
L571Q |
probably null |
Het |
| Rufy1 |
A |
G |
11: 50,281,205 (GRCm39) |
|
probably benign |
Het |
| Sftpd |
C |
A |
14: 40,894,592 (GRCm39) |
A276S |
probably benign |
Het |
| Slc35f4 |
A |
C |
14: 49,556,225 (GRCm39) |
V176G |
probably damaging |
Het |
| Snrpb |
T |
C |
2: 130,017,251 (GRCm39) |
D89G |
probably benign |
Het |
| Stab2 |
A |
T |
10: 86,790,035 (GRCm39) |
V577D |
probably benign |
Het |
| Synrg |
A |
C |
11: 83,872,334 (GRCm39) |
S152R |
probably damaging |
Het |
| Trgv7 |
T |
C |
13: 19,362,260 (GRCm39) |
|
probably benign |
Het |
| Trpm1 |
A |
G |
7: 63,876,645 (GRCm39) |
E682G |
probably damaging |
Het |
| Unc80 |
T |
C |
1: 66,718,744 (GRCm39) |
I2989T |
probably benign |
Het |
| Vmn1r116 |
A |
G |
7: 20,606,373 (GRCm39) |
T65A |
probably benign |
Het |
| Zfp469 |
G |
A |
8: 122,998,009 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Fnbp1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01061:Fnbp1
|
APN |
2 |
30,973,054 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0381:Fnbp1
|
UTSW |
2 |
30,923,041 (GRCm39) |
missense |
probably benign |
0.02 |
|
R0573:Fnbp1
|
UTSW |
2 |
30,948,990 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0713:Fnbp1
|
UTSW |
2 |
30,926,606 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R1120:Fnbp1
|
UTSW |
2 |
30,926,606 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R1364:Fnbp1
|
UTSW |
2 |
30,949,043 (GRCm39) |
splice site |
probably benign |
|
|
R1974:Fnbp1
|
UTSW |
2 |
30,943,059 (GRCm39) |
missense |
probably null |
0.94 |
|
R3800:Fnbp1
|
UTSW |
2 |
30,923,143 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4176:Fnbp1
|
UTSW |
2 |
30,926,131 (GRCm39) |
splice site |
probably null |
|
|
R4293:Fnbp1
|
UTSW |
2 |
30,995,362 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4478:Fnbp1
|
UTSW |
2 |
30,995,266 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4602:Fnbp1
|
UTSW |
2 |
30,926,552 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4716:Fnbp1
|
UTSW |
2 |
30,945,532 (GRCm39) |
missense |
probably benign |
0.03 |
|
R5909:Fnbp1
|
UTSW |
2 |
30,938,211 (GRCm39) |
splice site |
probably null |
|
|
R6436:Fnbp1
|
UTSW |
2 |
30,986,139 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7075:Fnbp1
|
UTSW |
2 |
30,948,926 (GRCm39) |
missense |
probably benign |
|
|
R7747:Fnbp1
|
UTSW |
2 |
30,926,159 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8069:Fnbp1
|
UTSW |
2 |
30,926,606 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R8870:Fnbp1
|
UTSW |
2 |
30,938,222 (GRCm39) |
missense |
|
|
|
R8945:Fnbp1
|
UTSW |
2 |
30,995,346 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9032:Fnbp1
|
UTSW |
2 |
30,973,017 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9484:Fnbp1
|
UTSW |
2 |
30,973,038 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9662:Fnbp1
|
UTSW |
2 |
30,986,042 (GRCm39) |
missense |
probably damaging |
0.97 |
|
Z1177:Fnbp1
|
UTSW |
2 |
30,973,071 (GRCm39) |
missense |
probably damaging |
0.96 |
|
| Posted On |
2013-12-09 |
Incidental Mutation