Incidental Mutation 'R4176:Fnbp1'
| ID |
319495 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Fnbp1
|
| Ensembl Gene |
ENSMUSG00000075415 |
| Gene Name |
formin binding protein 1 |
| Synonyms |
FBP17, 2210010H06Rik, FBP1, 1110057E06Rik |
| MMRRC Submission |
041014-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.557)
|
| Stock # |
R4176 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
30916218-31032020 bp(-) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
T to C
at 30926131 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000073879]
[ENSMUST00000073879]
[ENSMUST00000075326]
[ENSMUST00000075326]
[ENSMUST00000100207]
[ENSMUST00000100207]
[ENSMUST00000100208]
[ENSMUST00000100208]
[ENSMUST00000113555]
[ENSMUST00000113555]
[ENSMUST00000113559]
[ENSMUST00000113560]
[ENSMUST00000113562]
[ENSMUST00000113564]
|
| AlphaFold |
Q80TY0 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000073879
|
| SMART Domains |
Protein: ENSMUSP00000109188
Gene: ENSMUSG00000075415
| 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 null
Transcript: ENSMUST00000073879
|
| SMART Domains |
Protein: ENSMUSP00000109188
Gene: ENSMUSG00000075415
| 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 null
Transcript: ENSMUST00000075326
|
| SMART Domains |
Protein: ENSMUSP00000074796
Gene: ENSMUSG00000075415
| 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 null
Transcript: ENSMUST00000075326
|
| SMART Domains |
Protein: ENSMUSP00000074796
Gene: ENSMUSG00000075415
| 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 null
Transcript: ENSMUST00000100207
|
| SMART Domains |
Protein: ENSMUSP00000097781
Gene: ENSMUSG00000075415
| 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 null
Transcript: ENSMUST00000100207
|
| SMART Domains |
Protein: ENSMUSP00000097781
Gene: ENSMUSG00000075415
| 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 null
Transcript: ENSMUST00000100208
|
| SMART Domains |
Protein: ENSMUSP00000097782
Gene: ENSMUSG00000075415
| 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 null
Transcript: ENSMUST00000100208
|
| SMART Domains |
Protein: ENSMUSP00000097782
Gene: ENSMUSG00000075415
| 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 null
Transcript: ENSMUST00000113555
|
| SMART Domains |
Protein: ENSMUSP00000109184
Gene: ENSMUSG00000075415
| 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 null
Transcript: ENSMUST00000113555
|
| SMART Domains |
Protein: ENSMUSP00000109184
Gene: ENSMUSG00000075415
| 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 null
Transcript: ENSMUST00000113559
|
| SMART Domains |
Protein: ENSMUSP00000109189
Gene: ENSMUSG00000075415
| 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 null
Transcript: ENSMUST00000113560
|
| SMART Domains |
Protein: ENSMUSP00000109190
Gene: ENSMUSG00000075415
| 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 |
noncoding transcript
Transcript: ENSMUST00000138581
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000113562
|
| SMART Domains |
Protein: ENSMUSP00000109192
Gene: ENSMUSG00000075415
| 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 null
Transcript: ENSMUST00000113564
|
| SMART Domains |
Protein: ENSMUSP00000109194
Gene: ENSMUSG00000075415
| 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 null
Transcript: ENSMUST00000128431
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000128431
|
| Predicted Effect |
probably null
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 |
probably null
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 |
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.6%
- 20x: 96.1%
|
| 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: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A2ml1 |
T |
C |
6: 128,522,000 (GRCm39) |
E1274G |
possibly damaging |
Het |
| Abi3bp |
A |
G |
16: 56,472,563 (GRCm39) |
E424G |
probably damaging |
Het |
| Ankrd10 |
A |
G |
8: 11,662,644 (GRCm39) |
I363T |
probably benign |
Het |
| Ankrd12 |
A |
T |
17: 66,334,361 (GRCm39) |
N204K |
probably damaging |
Het |
| Brca2 |
C |
A |
5: 150,463,098 (GRCm39) |
S954* |
probably null |
Het |
| Col11a1 |
A |
C |
3: 114,001,872 (GRCm39) |
D432A |
possibly damaging |
Het |
| Dagla |
G |
T |
19: 10,240,461 (GRCm39) |
D256E |
probably damaging |
Het |
| Dsg2 |
T |
A |
18: 20,713,720 (GRCm39) |
F230L |
probably benign |
Het |
| Elp5 |
T |
C |
11: 69,861,388 (GRCm39) |
Q197R |
probably null |
Het |
| Emilin2 |
A |
T |
17: 71,581,258 (GRCm39) |
D489E |
probably benign |
Het |
| Entrep3 |
T |
C |
3: 89,091,754 (GRCm39) |
V87A |
probably damaging |
Het |
| Ermp1 |
A |
G |
19: 29,623,365 (GRCm39) |
|
probably null |
Het |
| Fam149a |
A |
G |
8: 45,794,321 (GRCm39) |
Y614H |
probably benign |
Het |
| Gabrb3 |
T |
C |
7: 57,241,061 (GRCm39) |
F13S |
probably benign |
Het |
| Hydin |
G |
A |
8: 111,320,452 (GRCm39) |
A4499T |
probably benign |
Het |
| Islr2 |
A |
T |
9: 58,107,183 (GRCm39) |
C26S |
probably damaging |
Het |
| Jup |
T |
A |
11: 100,263,287 (GRCm39) |
D696V |
probably benign |
Het |
| Kcnq5 |
A |
C |
1: 21,605,392 (GRCm39) |
V171G |
probably damaging |
Het |
| Kntc1 |
T |
G |
5: 123,914,680 (GRCm39) |
S667A |
possibly damaging |
Het |
| Loxhd1 |
A |
G |
18: 77,418,755 (GRCm39) |
T293A |
possibly damaging |
Het |
| Lrp1b |
C |
A |
2: 41,298,405 (GRCm39) |
C138F |
probably damaging |
Het |
| Lrrc37 |
T |
A |
11: 103,427,426 (GRCm39) |
H1388L |
unknown |
Het |
| Mctp2 |
A |
G |
7: 71,909,085 (GRCm39) |
I76T |
probably benign |
Het |
| Or2z8 |
A |
G |
8: 72,812,028 (GRCm39) |
Y168C |
probably damaging |
Het |
| Or5k16 |
T |
C |
16: 58,736,947 (GRCm39) |
D19G |
probably benign |
Het |
| Pbx1 |
A |
G |
1: 168,018,841 (GRCm39) |
|
probably null |
Het |
| Pelp1 |
A |
T |
11: 70,287,693 (GRCm39) |
W410R |
probably damaging |
Het |
| Phaf1 |
T |
C |
8: 105,967,763 (GRCm39) |
L218P |
probably benign |
Het |
| Pkd1 |
T |
C |
17: 24,806,971 (GRCm39) |
L3482P |
probably benign |
Het |
| Plekhn1 |
C |
T |
4: 156,306,258 (GRCm39) |
G604E |
probably benign |
Het |
| Ptpn22 |
A |
G |
3: 103,793,561 (GRCm39) |
T571A |
probably benign |
Het |
| Qrsl1 |
A |
T |
10: 43,760,828 (GRCm39) |
S252T |
probably damaging |
Het |
| Rab3gap2 |
T |
A |
1: 184,978,863 (GRCm39) |
M280K |
probably damaging |
Het |
| Serpinh1 |
T |
C |
7: 98,996,206 (GRCm39) |
M293V |
probably benign |
Het |
| Six4 |
G |
A |
12: 73,155,605 (GRCm39) |
T454I |
probably damaging |
Het |
| Slc26a8 |
T |
A |
17: 28,866,973 (GRCm39) |
E585D |
probably benign |
Het |
| Slc34a2 |
T |
G |
5: 53,224,910 (GRCm39) |
C350W |
probably damaging |
Het |
| Slit2 |
T |
A |
5: 48,394,586 (GRCm39) |
|
probably null |
Het |
| Trip11 |
G |
A |
12: 101,861,957 (GRCm39) |
Q203* |
probably null |
Het |
| Trpm7 |
T |
C |
2: 126,671,083 (GRCm39) |
K633R |
possibly damaging |
Het |
| Usp38 |
A |
C |
8: 81,719,928 (GRCm39) |
S434A |
probably benign |
Het |
| Zbtb16 |
A |
G |
9: 48,571,101 (GRCm39) |
F555S |
probably damaging |
Het |
| Zfp141 |
A |
T |
7: 42,125,705 (GRCm39) |
S256T |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- AACCATCTGTCACTTCAGTTGCAG -3'
(R):5'- CTCCAGGTTGGTCGCTATAG -3'
Sequencing Primer
(F):5'- TCACTTCAGTTGCAGAGGAC -3'
(R):5'- CCAGGTTGGTCGCTATAGTTGTCC -3'
|
| Posted On |
2015-06-10 |
Incidental Mutation