Incidental Mutation 'R7075:Fnbp1'
| ID |
549138 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Fnbp1
|
| Ensembl Gene |
ENSMUSG00000075415 |
| Gene Name |
formin binding protein 1 |
| Synonyms |
FBP17, 2210010H06Rik, FBP1, 1110057E06Rik |
| MMRRC Submission |
045170-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.557)
|
| Stock # |
R7075 (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 30948926 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Arginine
at position 206
(H206R)
|
| 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 |
probably benign
Transcript: ENSMUST00000073879
AA Change: H206R
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000109188
Gene: ENSMUSG00000075415
AA Change: H206R
| 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 benign
Transcript: ENSMUST00000075326
AA Change: H206R
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000074796
Gene: ENSMUSG00000075415
AA Change: H206R
| 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 benign
Transcript: ENSMUST00000100207
AA Change: H206R
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000097781
Gene: ENSMUSG00000075415
AA Change: H206R
| 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 benign
Transcript: ENSMUST00000100208
AA Change: H206R
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000097782
Gene: ENSMUSG00000075415
AA Change: H206R
| 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 benign
Transcript: ENSMUST00000113552
AA Change: H206R
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000109181
Gene: ENSMUSG00000075415
AA Change: H206R
| Domain | Start | End | E-Value | Type |
|---|
|
FCH
|
1 |
94 |
4.11e-21 |
SMART |
|
low complexity region
|
172 |
181 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000113555
AA Change: H206R
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000109184
Gene: ENSMUSG00000075415
AA Change: H206R
| 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 benign
Transcript: ENSMUST00000113559
AA Change: H127R
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000109189
Gene: ENSMUSG00000075415
AA Change: H127R
| 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 benign
Transcript: ENSMUST00000113560
AA Change: H206R
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000109190
Gene: ENSMUSG00000075415
AA Change: H206R
| 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 benign
Transcript: ENSMUST00000113562
AA Change: H206R
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000109192
Gene: ENSMUSG00000075415
AA Change: H206R
| 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 benign
Transcript: ENSMUST00000113564
AA Change: H206R
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000109194
Gene: ENSMUSG00000075415
AA Change: H206R
| 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 benign
Transcript: ENSMUST00000128431
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000128500
|
| SMART Domains |
Protein: ENSMUSP00000115013
Gene: ENSMUSG00000075415
| 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 |
possibly damaging
Transcript: ENSMUST00000136181
AA Change: H150R
PolyPhen 2
Score 0.533 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000120580
Gene: ENSMUSG00000075415
AA Change: H150R
| 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 benign
Transcript: ENSMUST00000149196
|
| SMART Domains |
Protein: ENSMUSP00000121282
Gene: ENSMUSG00000075415
| Domain | Start | End | E-Value | Type |
|---|
|
FCH
|
14 |
107 |
8.88e-17 |
SMART |
|
low complexity region
|
185 |
194 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 98.9%
|
| Validation Efficiency |
95% (60/63) |
| 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: 62 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acyp1 |
A |
T |
12: 85,325,782 (GRCm39) |
H72Q |
unknown |
Het |
| Afmid |
T |
A |
11: 117,726,531 (GRCm39) |
D218E |
probably benign |
Het |
| Ankhd1 |
T |
C |
18: 36,693,042 (GRCm39) |
V1A |
|
Het |
| Atf7ip |
T |
C |
6: 136,573,513 (GRCm39) |
|
probably null |
Het |
| BC024139 |
C |
T |
15: 76,008,599 (GRCm39) |
V326I |
probably benign |
Het |
| Bfsp1 |
T |
A |
2: 143,690,885 (GRCm39) |
Q159L |
probably damaging |
Het |
| Cct2 |
A |
T |
10: 116,897,370 (GRCm39) |
W125R |
unknown |
Het |
| Cnksr3 |
G |
T |
10: 7,102,931 (GRCm39) |
T147K |
probably benign |
Het |
| Colq |
C |
G |
14: 31,274,866 (GRCm39) |
G101R |
probably damaging |
Het |
| Dlg5 |
G |
T |
14: 24,227,865 (GRCm39) |
T352K |
possibly damaging |
Het |
| Dusp9 |
TAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCTAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCTAAAGCGGAGGCCAAAGCGGAGGCCAAAG |
TAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCTAAAGCGGAGGCCAAAGCGGAGGCCAAAG |
X: 72,684,217 (GRCm39) |
|
probably benign |
Het |
| Ebna1bp2 |
T |
C |
4: 118,479,299 (GRCm39) |
V119A |
probably benign |
Het |
| Eif2ak4 |
C |
T |
2: 118,251,291 (GRCm39) |
Q318* |
probably null |
Het |
| Eif2b1 |
G |
A |
5: 124,709,314 (GRCm39) |
T286M |
probably damaging |
Het |
| Fam53b |
G |
T |
7: 132,361,352 (GRCm39) |
D225E |
probably damaging |
Het |
| Fh1 |
A |
G |
1: 175,435,421 (GRCm39) |
I354T |
probably benign |
Het |
| Gabrg3 |
A |
T |
7: 56,973,444 (GRCm39) |
D74E |
probably damaging |
Het |
| Galnt18 |
A |
T |
7: 111,155,595 (GRCm39) |
V246E |
possibly damaging |
Het |
| Glt6d1 |
T |
C |
2: 25,685,292 (GRCm39) |
R44G |
probably benign |
Het |
| Gm17087 |
T |
C |
17: 8,785,635 (GRCm39) |
M23V |
probably benign |
Het |
| Gpr160 |
A |
T |
3: 30,950,926 (GRCm39) |
I333L |
possibly damaging |
Het |
| Hars1 |
T |
C |
18: 36,905,408 (GRCm39) |
N142S |
possibly damaging |
Het |
| Hmgcll1 |
T |
C |
9: 75,963,834 (GRCm39) |
V97A |
possibly damaging |
Het |
| Itih4 |
T |
G |
14: 30,614,560 (GRCm39) |
V474G |
probably damaging |
Het |
| Itprid2 |
T |
A |
2: 79,466,004 (GRCm39) |
S41T |
probably damaging |
Het |
| Keap1 |
C |
T |
9: 21,142,552 (GRCm39) |
V568I |
probably benign |
Het |
| Kifc5b |
A |
G |
17: 27,144,872 (GRCm39) |
M633V |
probably benign |
Het |
| Lsm4 |
A |
G |
8: 71,130,435 (GRCm39) |
E18G |
probably damaging |
Het |
| Meox1 |
T |
A |
11: 101,784,569 (GRCm39) |
Q88L |
probably damaging |
Het |
| Mettl25 |
T |
C |
10: 105,665,785 (GRCm39) |
N147S |
possibly damaging |
Het |
| Mphosph9 |
A |
C |
5: 124,458,922 (GRCm39) |
W83G |
probably damaging |
Het |
| Or1j15 |
T |
C |
2: 36,459,192 (GRCm39) |
I194T |
probably benign |
Het |
| Or5ak22 |
T |
C |
2: 85,230,544 (GRCm39) |
D111G |
probably damaging |
Het |
| Or7e170 |
T |
A |
9: 19,795,359 (GRCm39) |
M81L |
probably benign |
Het |
| Or8b4 |
T |
C |
9: 37,830,370 (GRCm39) |
V139A |
probably benign |
Het |
| Or8h8 |
T |
G |
2: 86,752,990 (GRCm39) |
K295N |
possibly damaging |
Het |
| Or9g4 |
T |
A |
2: 85,505,168 (GRCm39) |
Y109F |
|
Het |
| Otogl |
G |
T |
10: 107,614,790 (GRCm39) |
T1954K |
probably benign |
Het |
| Padi2 |
T |
C |
4: 140,660,528 (GRCm39) |
V336A |
probably damaging |
Het |
| Phf21a |
C |
T |
2: 92,190,724 (GRCm39) |
Q675* |
probably null |
Het |
| Ppip5k1 |
T |
C |
2: 121,152,231 (GRCm39) |
E1092G |
probably damaging |
Het |
| Psg21 |
T |
C |
7: 18,388,786 (GRCm39) |
N102S |
probably damaging |
Het |
| Ralgapa1 |
C |
A |
12: 55,867,508 (GRCm39) |
Q15H |
possibly damaging |
Het |
| Rbm26 |
A |
T |
14: 105,398,043 (GRCm39) |
D26E |
unknown |
Het |
| Rbp4 |
T |
C |
19: 38,112,509 (GRCm39) |
Y152C |
probably damaging |
Het |
| Recql4 |
A |
G |
15: 76,590,624 (GRCm39) |
V646A |
possibly damaging |
Het |
| Rnf220 |
A |
T |
4: 117,143,079 (GRCm39) |
M63K |
probably benign |
Het |
| Selenok |
T |
C |
14: 29,692,024 (GRCm39) |
S21P |
probably damaging |
Het |
| Senp1 |
A |
G |
15: 97,956,207 (GRCm39) |
V404A |
probably benign |
Het |
| Sh3yl1 |
A |
G |
12: 30,990,165 (GRCm39) |
|
probably null |
Het |
| Snx32 |
A |
G |
19: 5,547,018 (GRCm39) |
L275P |
probably damaging |
Het |
| Stat5a |
T |
C |
11: 100,770,519 (GRCm39) |
V519A |
possibly damaging |
Het |
| Tbc1d10b |
A |
T |
7: 126,802,410 (GRCm39) |
V388E |
possibly damaging |
Het |
| Tdrd6 |
A |
G |
17: 43,936,065 (GRCm39) |
V1661A |
probably benign |
Het |
| Tmem63a |
T |
A |
1: 180,788,714 (GRCm39) |
F350L |
probably damaging |
Het |
| Trio |
A |
T |
15: 27,898,086 (GRCm39) |
I401K |
unknown |
Het |
| Ttn |
T |
C |
2: 76,547,173 (GRCm39) |
E32291G |
probably damaging |
Het |
| Tubgcp5 |
G |
T |
7: 55,479,155 (GRCm39) |
V1002L |
probably benign |
Het |
| Vav3 |
C |
T |
3: 109,433,240 (GRCm39) |
T410I |
possibly damaging |
Het |
| Vmn1r1 |
A |
T |
1: 181,985,597 (GRCm39) |
F23I |
probably benign |
Het |
| Vmn2r84 |
T |
A |
10: 130,226,941 (GRCm39) |
Q299L |
probably damaging |
Het |
| Vmn2r85 |
T |
A |
10: 130,258,557 (GRCm39) |
E499D |
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 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCTGACTTATGCACGCACGC -3'
(R):5'- TGTGGTATGCCCCGATGTAG -3'
Sequencing Primer
(F):5'- CACACTCAGGGGACATTTGG -3'
(R):5'- ATGCCCCGATGTAGGCTTTTG -3'
|
| Posted On |
2019-05-15 |
Incidental Mutation