Incidental Mutation 'R8069:Fnbp1'
| ID |
620142 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Fnbp1
|
| Ensembl Gene |
ENSMUSG00000075415 |
| Gene Name |
formin binding protein 1 |
| Synonyms |
FBP17, 2210010H06Rik, FBP1, 1110057E06Rik |
| MMRRC Submission |
067504-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.557)
|
| Stock # |
R8069 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
30916218-31032020 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 30926606 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Asparagine
at position 433
(Y433N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000109194
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000073879]
[ENSMUST00000075326]
[ENSMUST00000100207]
[ENSMUST00000100208]
[ENSMUST00000113555]
[ENSMUST00000113559]
[ENSMUST00000113560]
[ENSMUST00000113564]
[ENSMUST00000113562]
|
| AlphaFold |
Q80TY0 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000073879
AA Change: Y433N
PolyPhen 2
Score 0.350 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000109188
Gene: ENSMUSG00000075415
AA Change: Y433N
| 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: Y465N
PolyPhen 2
Score 0.819 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000074796
Gene: ENSMUSG00000075415
AA Change: Y465N
| 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: Y438N
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000097781
Gene: ENSMUSG00000075415
AA Change: Y438N
| 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: Y494N
PolyPhen 2
Score 0.291 (Sensitivity: 0.91; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000097782
Gene: ENSMUSG00000075415
AA Change: Y494N
| 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: ENSMUST00000113555
AA Change: Y470N
PolyPhen 2
Score 0.298 (Sensitivity: 0.91; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000109184
Gene: ENSMUSG00000075415
AA Change: Y470N
| 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: Y405N
PolyPhen 2
Score 0.414 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000109189
Gene: ENSMUSG00000075415
AA Change: Y405N
| 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: Y499N
PolyPhen 2
Score 0.298 (Sensitivity: 0.91; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000109190
Gene: ENSMUSG00000075415
AA Change: Y499N
| 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 |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000113564
AA Change: Y433N
PolyPhen 2
Score 0.973 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000109194
Gene: ENSMUSG00000075415
AA Change: Y433N
| 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: ENSMUST00000113562
AA Change: Y433N
PolyPhen 2
Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
|
| SMART Domains |
Protein: ENSMUSP00000109192
Gene: ENSMUSG00000075415
AA Change: Y433N
| 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 |
|
| SMART Domains |
Protein: ENSMUSP00000115013
Gene: ENSMUSG00000075415
AA Change: Y266N
| 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
|
| Meta Mutation Damage Score |
0.0839 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.2%
|
| 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: 63 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aasdhppt |
T |
A |
9: 4,296,823 (GRCm39) |
D261V |
probably benign |
Het |
| Abca8a |
T |
C |
11: 109,980,876 (GRCm39) |
Y54C |
probably damaging |
Het |
| Adad2 |
T |
C |
8: 120,342,746 (GRCm39) |
S431P |
probably benign |
Het |
| Adam18 |
A |
G |
8: 25,118,246 (GRCm39) |
Y557H |
possibly damaging |
Het |
| Adam5 |
C |
T |
8: 25,303,541 (GRCm39) |
E129K |
probably damaging |
Het |
| Adgra2 |
T |
C |
8: 27,609,251 (GRCm39) |
V824A |
probably benign |
Het |
| Armc12 |
A |
T |
17: 28,751,410 (GRCm39) |
K135* |
probably null |
Het |
| Aup1 |
C |
T |
6: 83,032,910 (GRCm39) |
Q215* |
probably null |
Het |
| AW146154 |
G |
A |
7: 41,129,935 (GRCm39) |
R394C |
probably benign |
Het |
| Canx |
T |
G |
11: 50,202,531 (GRCm39) |
D25A |
possibly damaging |
Het |
| Ccnf |
A |
G |
17: 24,443,989 (GRCm39) |
L593P |
probably damaging |
Het |
| Cd40 |
A |
T |
2: 164,898,695 (GRCm39) |
I41F |
unknown |
Het |
| Cdh1 |
C |
T |
8: 107,384,405 (GRCm39) |
A291V |
probably benign |
Het |
| Cdhr2 |
A |
T |
13: 54,878,883 (GRCm39) |
I963F |
probably damaging |
Het |
| Cenpe |
G |
A |
3: 134,949,479 (GRCm39) |
G88D |
probably damaging |
Het |
| Cep295 |
T |
A |
9: 15,233,882 (GRCm39) |
T2305S |
possibly damaging |
Het |
| Cimap1a |
A |
T |
7: 140,430,215 (GRCm39) |
T201S |
probably benign |
Het |
| Clcn4 |
T |
C |
7: 7,299,758 (GRCm39) |
R24G |
probably damaging |
Het |
| Cnot7 |
T |
C |
8: 40,960,514 (GRCm39) |
N98S |
possibly damaging |
Het |
| Defa3 |
T |
G |
8: 21,778,288 (GRCm39) |
C91G |
probably damaging |
Het |
| Dennd2c |
T |
C |
3: 103,072,446 (GRCm39) |
F844L |
probably damaging |
Het |
| Dido1 |
T |
C |
2: 180,302,705 (GRCm39) |
D1733G |
probably benign |
Het |
| Dnah7b |
G |
A |
1: 46,263,866 (GRCm39) |
W2116* |
probably null |
Het |
| Dnaja3 |
T |
C |
16: 4,502,131 (GRCm39) |
V45A |
probably benign |
Het |
| Efcab7 |
T |
A |
4: 99,717,615 (GRCm39) |
S11T |
unknown |
Het |
| Enpp2 |
T |
A |
15: 54,710,697 (GRCm39) |
K744N |
probably damaging |
Het |
| Fam171b |
CCAGCAGCAGCAGCAGCAGCAGC |
CCAGCAGCAGCAGCAGCAGC |
2: 83,643,218 (GRCm39) |
|
probably benign |
Het |
| Fdxacb1 |
T |
G |
9: 50,680,135 (GRCm39) |
F107C |
probably damaging |
Het |
| Gatad1 |
T |
C |
5: 3,693,540 (GRCm39) |
R210G |
probably benign |
Het |
| Gm15446 |
T |
A |
5: 110,088,306 (GRCm39) |
Y6* |
probably null |
Het |
| Gm45140 |
T |
C |
6: 87,796,551 (GRCm39) |
H66R |
|
Het |
| Grin3b |
G |
A |
10: 79,812,868 (GRCm39) |
R981Q |
unknown |
Het |
| Ipp |
T |
G |
4: 116,368,053 (GRCm39) |
I95M |
probably benign |
Het |
| Iqca1 |
A |
G |
1: 89,973,466 (GRCm39) |
F769L |
probably damaging |
Het |
| Jkamp |
C |
T |
12: 72,136,832 (GRCm39) |
L67F |
probably damaging |
Het |
| Llgl2 |
T |
A |
11: 115,744,112 (GRCm39) |
M773K |
probably damaging |
Het |
| Man2b1 |
A |
G |
8: 85,823,674 (GRCm39) |
T973A |
probably benign |
Het |
| Mcm2 |
T |
C |
6: 88,869,039 (GRCm39) |
Y271C |
probably damaging |
Het |
| Msl2 |
T |
C |
9: 100,978,159 (GRCm39) |
S178P |
probably benign |
Het |
| Myo7a |
G |
T |
7: 97,732,833 (GRCm39) |
S648* |
probably null |
Het |
| Neurl1b |
G |
T |
17: 26,651,201 (GRCm39) |
V158F |
probably damaging |
Het |
| Nkain2 |
A |
G |
10: 32,766,034 (GRCm39) |
V142A |
unknown |
Het |
| Nrp2 |
C |
T |
1: 62,784,567 (GRCm39) |
R239C |
probably damaging |
Het |
| Oma1 |
A |
T |
4: 103,176,232 (GRCm39) |
|
probably benign |
Het |
| Or10ag58 |
A |
T |
2: 87,265,364 (GRCm39) |
N178Y |
possibly damaging |
Het |
| Or5aq7 |
A |
G |
2: 86,938,411 (GRCm39) |
Y107H |
probably damaging |
Het |
| Plekhg6 |
T |
C |
6: 125,340,009 (GRCm39) |
T784A |
probably benign |
Het |
| Prtg |
T |
C |
9: 72,752,265 (GRCm39) |
I217T |
probably benign |
Het |
| Ptx4 |
T |
C |
17: 25,341,753 (GRCm39) |
F76S |
probably damaging |
Het |
| Rap1b |
A |
C |
10: 117,657,514 (GRCm39) |
I55S |
probably damaging |
Het |
| Sftpd |
T |
C |
14: 40,894,538 (GRCm39) |
T294A |
probably benign |
Het |
| Spg11 |
C |
T |
2: 121,943,637 (GRCm39) |
V172I |
probably benign |
Het |
| Srms |
T |
A |
2: 180,848,751 (GRCm39) |
H363L |
probably damaging |
Het |
| Tbc1d13 |
A |
T |
2: 30,037,415 (GRCm39) |
M266L |
probably damaging |
Het |
| Tbc1d2 |
A |
C |
4: 46,649,737 (GRCm39) |
C100G |
possibly damaging |
Het |
| Tdg |
A |
T |
10: 82,474,627 (GRCm39) |
Q39L |
probably benign |
Het |
| Tiam1 |
G |
A |
16: 89,586,146 (GRCm39) |
A1547V |
probably benign |
Het |
| Trpm1 |
A |
G |
7: 63,858,718 (GRCm39) |
E380G |
possibly damaging |
Het |
| Unc13b |
T |
G |
4: 43,177,597 (GRCm39) |
D2808E |
unknown |
Het |
| Usp25 |
A |
T |
16: 76,865,943 (GRCm39) |
D287V |
possibly damaging |
Het |
| Zfp648 |
A |
T |
1: 154,079,862 (GRCm39) |
Q7L |
probably benign |
Het |
| Zfp931 |
T |
C |
2: 177,709,709 (GRCm39) |
R226G |
probably benign |
Het |
| Zfyve9 |
T |
A |
4: 108,542,215 (GRCm39) |
E201D |
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 |
|
R7075:Fnbp1
|
UTSW |
2 |
30,948,926 (GRCm39) |
missense |
probably benign |
|
|
R7747:Fnbp1
|
UTSW |
2 |
30,926,159 (GRCm39) |
missense |
probably damaging |
0.99 |
|
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'- GTTGGATGAATCAGAGGCCAC -3'
(R):5'- GAAGTCGTTGTCTGTGAGCCTAC -3'
Sequencing Primer
(F):5'- ACACAATAGACACTCTTGCCTTCTG -3'
(R):5'- GAGCCTACCTGTATAGTGCAG -3'
|
| Posted On |
2020-01-23 |
Incidental Mutation