Incidental Mutation 'R9032:Fnbp1'
ID |
687110 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Fnbp1
|
Ensembl Gene |
ENSMUSG00000075415 |
Gene Name |
formin binding protein 1 |
Synonyms |
FBP17, 2210010H06Rik, FBP1, 1110057E06Rik |
MMRRC Submission |
068861-MU
|
Accession Numbers |
|
Essential gene? |
Possibly essential
(E-score: 0.557)
|
Stock # |
R9032 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
2 |
Chromosomal Location |
30916218-31032020 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 30973017 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glycine
at position 161
(D161G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000109190
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000073879]
[ENSMUST00000075326]
[ENSMUST00000100207]
[ENSMUST00000100208]
[ENSMUST00000113552]
[ENSMUST00000113555]
[ENSMUST00000113559]
[ENSMUST00000113560]
[ENSMUST00000113562]
[ENSMUST00000113564]
[ENSMUST00000136181]
[ENSMUST00000149196]
|
AlphaFold |
Q80TY0 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000073879
AA Change: D161G
PolyPhen 2
Score 0.843 (Sensitivity: 0.83; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000109188 Gene: ENSMUSG00000075415 AA Change: D161G
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: D161G
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000074796 Gene: ENSMUSG00000075415 AA Change: D161G
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: D161G
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000097781 Gene: ENSMUSG00000075415 AA Change: D161G
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 |
probably damaging
Transcript: ENSMUST00000100208
AA Change: D161G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000097782 Gene: ENSMUSG00000075415 AA Change: D161G
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: D161G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000109181 Gene: ENSMUSG00000075415 AA Change: D161G
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: D161G
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000109184 Gene: ENSMUSG00000075415 AA Change: D161G
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: D82G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000109189 Gene: ENSMUSG00000075415 AA Change: D82G
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 |
probably damaging
Transcript: ENSMUST00000113560
AA Change: D161G
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000109190 Gene: ENSMUSG00000075415 AA Change: D161G
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: ENSMUST00000113562
AA Change: D161G
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000109192 Gene: ENSMUSG00000075415 AA Change: D161G
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: ENSMUST00000113564
AA Change: D161G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000109194 Gene: ENSMUSG00000075415 AA Change: D161G
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 |
|
SMART Domains |
Protein: ENSMUSP00000115013 Gene: ENSMUSG00000075415 AA Change: D151G
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 |
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 |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000149196
AA Change: D174G
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000121282 Gene: ENSMUSG00000075415 AA Change: D174G
Domain | Start | End | E-Value | Type |
FCH
|
14 |
107 |
8.88e-17 |
SMART |
low complexity region
|
185 |
194 |
N/A |
INTRINSIC |
|
Meta Mutation Damage Score |
0.8330 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.8%
|
Validation Efficiency |
100% (56/56) |
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: 61 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
5031439G07Rik |
C |
T |
15: 84,844,782 (GRCm39) |
M78I |
probably benign |
Het |
Abca8b |
C |
T |
11: 109,848,073 (GRCm39) |
V803M |
probably benign |
Het |
Acap1 |
T |
C |
11: 69,772,491 (GRCm39) |
E728G |
probably damaging |
Het |
Afg1l |
G |
A |
10: 42,194,637 (GRCm39) |
T385M |
probably damaging |
Het |
Ankib1 |
T |
C |
5: 3,819,641 (GRCm39) |
I93V |
probably benign |
Het |
Aopep |
C |
T |
13: 63,444,681 (GRCm39) |
R752* |
probably null |
Het |
Apoa4 |
T |
A |
9: 46,154,275 (GRCm39) |
L292Q |
probably damaging |
Het |
Arhgap29 |
T |
A |
3: 121,808,249 (GRCm39) |
D1142E |
probably benign |
Het |
Asb5 |
A |
T |
8: 55,038,929 (GRCm39) |
D265V |
probably benign |
Het |
Ash1l |
C |
T |
3: 88,889,294 (GRCm39) |
A391V |
probably benign |
Het |
Ash1l |
T |
C |
3: 88,891,529 (GRCm39) |
V1136A |
probably benign |
Het |
Cacna1c |
G |
T |
6: 118,615,466 (GRCm39) |
Y1308* |
probably null |
Het |
Ctif |
CGGGGCACACTTTGCTCTTACCTCCCGGAGGCACGTGTAGATGGGGCACACTTTGCTCTTACCTCCCGGAGGCACGTGTAGATGGGGCACAC |
CGGGGCACACTTTGCTCTTACCTCCCGGAGGCACGTGTAGATGGGGCACAC |
18: 75,604,874 (GRCm39) |
|
probably benign |
Het |
Dmtn |
A |
G |
14: 70,853,534 (GRCm39) |
S92P |
probably damaging |
Het |
Edc4 |
T |
C |
8: 106,613,639 (GRCm39) |
F353S |
probably damaging |
Het |
Emc1 |
T |
C |
4: 139,094,474 (GRCm39) |
Y676H |
possibly damaging |
Het |
Epb41l4b |
A |
T |
4: 57,041,064 (GRCm39) |
|
probably null |
Het |
Fat1 |
A |
T |
8: 45,492,894 (GRCm39) |
N3872I |
probably benign |
Het |
Fer |
T |
A |
17: 64,228,767 (GRCm39) |
M214K |
probably damaging |
Het |
Fgf17 |
A |
G |
14: 70,874,436 (GRCm39) |
F129L |
probably damaging |
Het |
Frmd4b |
A |
C |
6: 97,269,334 (GRCm39) |
S993A |
probably benign |
Het |
Hsh2d |
T |
C |
8: 72,954,385 (GRCm39) |
S256P |
probably benign |
Het |
Il31ra |
T |
C |
13: 112,660,628 (GRCm39) |
S654G |
|
Het |
Lmnb2 |
T |
C |
10: 80,740,091 (GRCm39) |
D442G |
probably benign |
Het |
Med19 |
A |
G |
2: 84,515,660 (GRCm39) |
M115V |
probably damaging |
Het |
Mroh5 |
T |
C |
15: 73,655,302 (GRCm39) |
Y641C |
probably benign |
Het |
Mrpl18 |
A |
T |
17: 13,134,582 (GRCm39) |
V61E |
probably damaging |
Het |
Mrtfb |
A |
C |
16: 13,230,092 (GRCm39) |
T926P |
probably damaging |
Het |
Mtap |
AC |
A |
4: 89,090,515 (GRCm39) |
|
probably null |
Het |
Muc2 |
T |
A |
7: 141,287,058 (GRCm39) |
C154S |
probably damaging |
Het |
Mypn |
T |
G |
10: 62,983,894 (GRCm39) |
|
probably null |
Het |
Naip5 |
T |
A |
13: 100,356,338 (GRCm39) |
E1092D |
probably benign |
Het |
Nes |
T |
G |
3: 87,887,069 (GRCm39) |
V1776G |
possibly damaging |
Het |
Nxn |
A |
G |
11: 76,169,383 (GRCm39) |
I132T |
probably damaging |
Het |
Oxr1 |
G |
A |
15: 41,718,317 (GRCm39) |
V798I |
probably benign |
Het |
Papss1 |
C |
A |
3: 131,324,817 (GRCm39) |
H425N |
probably damaging |
Het |
Pde4dip |
T |
C |
3: 97,601,385 (GRCm39) |
N2344S |
probably benign |
Het |
Pfas |
C |
T |
11: 68,879,421 (GRCm39) |
G263S |
|
Het |
Pknox1 |
C |
T |
17: 31,822,229 (GRCm39) |
T332M |
possibly damaging |
Het |
Plch2 |
T |
C |
4: 155,084,976 (GRCm39) |
D321G |
probably damaging |
Het |
Pnma1 |
T |
C |
12: 84,193,806 (GRCm39) |
N299S |
probably benign |
Het |
Psg23 |
T |
G |
7: 18,348,660 (GRCm39) |
N49T |
possibly damaging |
Het |
Qrfpr |
A |
G |
3: 36,276,099 (GRCm39) |
F97S |
probably damaging |
Het |
Rbl1 |
A |
G |
2: 157,035,073 (GRCm39) |
F336L |
probably benign |
Het |
Rpap1 |
G |
A |
2: 119,608,776 (GRCm39) |
P143S |
probably benign |
Het |
Rsph6a |
A |
T |
7: 18,799,250 (GRCm39) |
N294Y |
probably damaging |
Het |
Serpinb9h |
T |
C |
13: 33,581,781 (GRCm39) |
Y113H |
probably damaging |
Het |
Sesn1 |
C |
T |
10: 41,686,835 (GRCm39) |
|
probably benign |
Het |
Sh3d19 |
T |
C |
3: 86,033,992 (GRCm39) |
Y782H |
probably damaging |
Het |
Siglecg |
T |
C |
7: 43,061,049 (GRCm39) |
V374A |
probably benign |
Het |
Slc35d2 |
A |
G |
13: 64,256,227 (GRCm39) |
F156S |
probably damaging |
Het |
Slc6a11 |
A |
T |
6: 114,202,808 (GRCm39) |
I301F |
probably damaging |
Het |
Slx4ip |
A |
G |
2: 136,910,240 (GRCm39) |
K412E |
possibly damaging |
Het |
Tas2r115 |
A |
T |
6: 132,714,327 (GRCm39) |
V208E |
probably benign |
Het |
Tlcd5 |
C |
T |
9: 43,022,664 (GRCm39) |
R230Q |
probably benign |
Het |
Tmem132a |
G |
T |
19: 10,843,835 (GRCm39) |
Q174K |
probably damaging |
Het |
Tmtc1 |
A |
T |
6: 148,237,749 (GRCm39) |
Y338* |
probably null |
Het |
Vav3 |
C |
T |
3: 109,413,722 (GRCm39) |
A220V |
probably benign |
Het |
Wt1 |
C |
A |
2: 104,957,160 (GRCm39) |
Q7K |
probably benign |
Het |
Zbtb4 |
T |
A |
11: 69,672,650 (GRCm39) |
F204L |
probably benign |
Het |
Zfp51 |
T |
A |
17: 21,684,660 (GRCm39) |
L425H |
probably damaging |
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 |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- TGGTGACTAAGCACATGACCTC -3'
(R):5'- GCAGGTCACTTCTGGAAATGAC -3'
Sequencing Primer
(F):5'- TGACCTCAACCCTGGCC -3'
(R):5'- GTCACTTCTGGAAATGACCAAGCATG -3'
|
Posted On |
2021-11-19 |