Incidental Mutation 'IGL01061:Fnbp1'
| ID |
50375 |
| 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: 0.557)
|
| Stock # |
IGL01061
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
30916218-31032020 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 30973054 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Tyrosine
at position 70
(D70Y)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000109189
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000073879]
[ENSMUST00000075326]
[ENSMUST00000100207]
[ENSMUST00000100208]
[ENSMUST00000113552]
[ENSMUST00000113555]
[ENSMUST00000113559]
[ENSMUST00000113560]
[ENSMUST00000113562]
[ENSMUST00000113564]
[ENSMUST00000149196]
[ENSMUST00000136181]
|
| AlphaFold |
Q80TY0 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000073879
AA Change: D149Y
PolyPhen 2
Score 0.962 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000109188
Gene: ENSMUSG00000075415
AA Change: D149Y
| 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 |
possibly damaging
Transcript: ENSMUST00000075326
AA Change: D149Y
PolyPhen 2
Score 0.924 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000074796
Gene: ENSMUSG00000075415
AA Change: D149Y
| 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: D149Y
PolyPhen 2
Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000097781
Gene: ENSMUSG00000075415
AA Change: D149Y
| 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: D149Y
PolyPhen 2
Score 0.924 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000097782
Gene: ENSMUSG00000075415
AA Change: D149Y
| 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 |
possibly damaging
Transcript: ENSMUST00000113552
AA Change: D149Y
PolyPhen 2
Score 0.924 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000109181
Gene: ENSMUSG00000075415
AA Change: D149Y
| Domain | Start | End | E-Value | Type |
|---|
|
FCH
|
1 |
94 |
4.11e-21 |
SMART |
|
low complexity region
|
172 |
181 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000113555
AA Change: D149Y
PolyPhen 2
Score 0.924 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000109184
Gene: ENSMUSG00000075415
AA Change: D149Y
| 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: ENSMUST00000113559
AA Change: D70Y
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000109189
Gene: ENSMUSG00000075415
AA Change: D70Y
| Domain | Start | End | E-Value | Type |
|---|
|
PDB:2EFL|A
|
1 |
221 |
1e-144 |
PDB |
|
low complexity region
|
250 |
262 |
N/A |
INTRINSIC |
|
PDB:2KE4|A
|
300 |
391 |
1e-26 |
PDB |
|
low complexity region
|
443 |
452 |
N/A |
INTRINSIC |
|
SH3
|
458 |
515 |
3.2e-15 |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000113560
AA Change: D149Y
PolyPhen 2
Score 0.924 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000109190
Gene: ENSMUSG00000075415
AA Change: D149Y
| 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 |
possibly damaging
Transcript: ENSMUST00000113562
AA Change: D149Y
PolyPhen 2
Score 0.924 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000109192
Gene: ENSMUSG00000075415
AA Change: D149Y
| 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 |
possibly damaging
Transcript: ENSMUST00000113564
AA Change: D149Y
PolyPhen 2
Score 0.924 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000109194
Gene: ENSMUSG00000075415
AA Change: D149Y
| 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: ENSMUST00000149196
AA Change: D162Y
PolyPhen 2
Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000121282
Gene: ENSMUSG00000075415
AA Change: D162Y
| Domain | Start | End | E-Value | Type |
|---|
|
FCH
|
14 |
107 |
8.88e-17 |
SMART |
|
low complexity region
|
185 |
194 |
N/A |
INTRINSIC |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000128500
AA Change: D139Y
|
| SMART Domains |
Protein: ENSMUSP00000115013
Gene: ENSMUSG00000075415
AA Change: D139Y
| 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: ENSMUST00000138581
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000136181
|
| SMART Domains |
Protein: ENSMUSP00000120580
Gene: ENSMUSG00000075415
| 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 |
|
| 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: 48 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aen |
G |
A |
7: 78,557,050 (GRCm39) |
M299I |
probably damaging |
Het |
| Ankfy1 |
T |
A |
11: 72,619,686 (GRCm39) |
C186* |
probably null |
Het |
| Ankmy1 |
A |
T |
1: 92,798,696 (GRCm39) |
|
probably benign |
Het |
| B3gnt2 |
T |
A |
11: 22,786,042 (GRCm39) |
E382V |
probably damaging |
Het |
| Carmil3 |
T |
G |
14: 55,736,087 (GRCm39) |
S610A |
possibly damaging |
Het |
| Cfap70 |
T |
C |
14: 20,497,693 (GRCm39) |
|
probably benign |
Het |
| Chek1 |
G |
A |
9: 36,625,815 (GRCm39) |
R277C |
possibly damaging |
Het |
| Cpb1 |
T |
A |
3: 20,320,680 (GRCm39) |
I92L |
probably benign |
Het |
| Ddx56 |
C |
T |
11: 6,214,671 (GRCm39) |
|
probably null |
Het |
| Dicer1 |
A |
T |
12: 104,672,586 (GRCm39) |
M887K |
probably null |
Het |
| Dnajc18 |
A |
G |
18: 35,813,995 (GRCm39) |
|
probably benign |
Het |
| Dock2 |
A |
G |
11: 34,596,653 (GRCm39) |
V401A |
probably damaging |
Het |
| Dock4 |
A |
C |
12: 40,752,968 (GRCm39) |
N434T |
probably benign |
Het |
| Dync2i1 |
C |
A |
12: 116,193,324 (GRCm39) |
A543S |
probably benign |
Het |
| Ehbp1l1 |
A |
T |
19: 5,767,916 (GRCm39) |
M1129K |
probably benign |
Het |
| Fam83a |
A |
T |
15: 57,849,771 (GRCm39) |
Y105F |
possibly damaging |
Het |
| Gtf3c2 |
A |
G |
5: 31,325,698 (GRCm39) |
F414L |
possibly damaging |
Het |
| Kndc1 |
A |
T |
7: 139,502,610 (GRCm39) |
E965D |
probably benign |
Het |
| Lrrc66 |
T |
C |
5: 73,772,842 (GRCm39) |
K209E |
probably benign |
Het |
| Mcm3 |
A |
T |
1: 20,884,720 (GRCm39) |
I261N |
possibly damaging |
Het |
| Mier3 |
T |
A |
13: 111,850,970 (GRCm39) |
|
probably benign |
Het |
| Muc6 |
T |
C |
7: 141,234,720 (GRCm39) |
E669G |
probably damaging |
Het |
| Myh1 |
T |
A |
11: 67,108,688 (GRCm39) |
M1368K |
probably benign |
Het |
| Nav1 |
A |
G |
1: 135,378,368 (GRCm39) |
I1653T |
probably damaging |
Het |
| Nuak1 |
C |
A |
10: 84,210,998 (GRCm39) |
L363F |
probably damaging |
Het |
| Or14j2 |
A |
G |
17: 37,885,795 (GRCm39) |
I173T |
possibly damaging |
Het |
| Or52b1 |
A |
G |
7: 104,978,589 (GRCm39) |
I270T |
possibly damaging |
Het |
| Or9i1 |
T |
C |
19: 13,840,069 (GRCm39) |
V304A |
possibly damaging |
Het |
| Pkd1l3 |
A |
G |
8: 110,365,338 (GRCm39) |
H1153R |
probably damaging |
Het |
| Poglut3 |
A |
G |
9: 53,299,887 (GRCm39) |
|
probably benign |
Het |
| Ppp6r2 |
A |
T |
15: 89,170,218 (GRCm39) |
|
probably benign |
Het |
| Prelid3b |
T |
C |
2: 174,307,614 (GRCm39) |
|
probably null |
Het |
| Prrt3 |
T |
C |
6: 113,474,731 (GRCm39) |
K164E |
possibly damaging |
Het |
| Rab22a |
T |
A |
2: 173,530,003 (GRCm39) |
D60E |
probably damaging |
Het |
| Rab32 |
A |
G |
10: 10,433,618 (GRCm39) |
L72P |
probably damaging |
Het |
| Samm50 |
A |
G |
15: 84,086,455 (GRCm39) |
T225A |
probably benign |
Het |
| Snx27 |
T |
A |
3: 94,436,287 (GRCm39) |
|
probably benign |
Het |
| Taf7 |
G |
A |
18: 37,776,486 (GRCm39) |
T27M |
probably damaging |
Het |
| Tgm5 |
A |
T |
2: 120,901,977 (GRCm39) |
C231S |
probably benign |
Het |
| Tll1 |
A |
G |
8: 64,491,488 (GRCm39) |
|
probably null |
Het |
| Tmem150a |
A |
G |
6: 72,334,101 (GRCm39) |
D61G |
probably damaging |
Het |
| Ttll8 |
G |
A |
15: 88,801,453 (GRCm39) |
R412C |
possibly damaging |
Het |
| Ubr3 |
T |
A |
2: 69,813,569 (GRCm39) |
D1293E |
probably benign |
Het |
| Utp20 |
T |
C |
10: 88,606,566 (GRCm39) |
N1669D |
probably benign |
Het |
| Vmn2r28 |
A |
G |
7: 5,491,183 (GRCm39) |
W355R |
probably damaging |
Het |
| Yars2 |
C |
T |
16: 16,124,406 (GRCm39) |
R338* |
probably null |
Het |
| Zfhx2 |
T |
A |
14: 55,311,339 (GRCm39) |
N452Y |
possibly damaging |
Het |
| Zfp180 |
T |
G |
7: 23,804,170 (GRCm39) |
D196E |
possibly damaging |
Het |
|
| Other mutations in Fnbp1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01640:Fnbp1
|
APN |
2 |
30,995,303 (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 |
2013-06-21 |
Incidental Mutation