Incidental Mutation 'IGL00392:Fnbp4'
| ID |
7124 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Fnbp4
|
| Ensembl Gene |
ENSMUSG00000008200 |
| Gene Name |
formin binding protein 4 |
| Synonyms |
FBP30 |
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.918)
|
| Stock # |
IGL00392
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
90575793-90611365 bp(+) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
A to C
at 90581966 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000013759
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000013759]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000013759
|
| SMART Domains |
Protein: ENSMUSP00000013759
Gene: ENSMUSG00000008200
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
65 |
140 |
N/A |
INTRINSIC |
|
low complexity region
|
165 |
175 |
N/A |
INTRINSIC |
|
low complexity region
|
204 |
235 |
N/A |
INTRINSIC |
|
WW
|
265 |
298 |
3.58e-5 |
SMART |
|
low complexity region
|
372 |
381 |
N/A |
INTRINSIC |
|
low complexity region
|
386 |
393 |
N/A |
INTRINSIC |
|
low complexity region
|
404 |
416 |
N/A |
INTRINSIC |
|
coiled coil region
|
442 |
478 |
N/A |
INTRINSIC |
|
low complexity region
|
515 |
533 |
N/A |
INTRINSIC |
|
WW
|
650 |
683 |
1.77e-9 |
SMART |
|
low complexity region
|
757 |
788 |
N/A |
INTRINSIC |
|
low complexity region
|
891 |
909 |
N/A |
INTRINSIC |
|
low complexity region
|
955 |
1002 |
N/A |
INTRINSIC |
|
low complexity region
|
1018 |
1032 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000117928
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000123314
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000126829
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Alpk3 |
T |
C |
7: 80,727,757 (GRCm39) |
Y296H |
possibly damaging |
Het |
| Armh3 |
T |
G |
19: 45,928,927 (GRCm39) |
H389P |
probably benign |
Het |
| Brca2 |
A |
G |
5: 150,464,705 (GRCm39) |
T1490A |
probably benign |
Het |
| Btaf1 |
A |
T |
19: 36,987,102 (GRCm39) |
D1732V |
probably damaging |
Het |
| Capzb |
T |
C |
4: 139,016,258 (GRCm39) |
I273T |
probably benign |
Het |
| Carmil1 |
G |
A |
13: 24,278,474 (GRCm39) |
T165I |
probably damaging |
Het |
| Cc2d2a |
A |
G |
5: 43,881,722 (GRCm39) |
|
probably benign |
Het |
| Cdh22 |
A |
G |
2: 164,954,521 (GRCm39) |
Y667H |
possibly damaging |
Het |
| Celsr1 |
T |
A |
15: 85,815,546 (GRCm39) |
Q1823L |
probably benign |
Het |
| Cfap210 |
T |
C |
2: 69,602,328 (GRCm39) |
H361R |
probably benign |
Het |
| Cntrl |
T |
C |
2: 35,027,826 (GRCm39) |
|
probably benign |
Het |
| Dhx15 |
A |
T |
5: 52,314,924 (GRCm39) |
|
probably benign |
Het |
| Dip2c |
A |
T |
13: 9,543,144 (GRCm39) |
D30V |
probably damaging |
Het |
| Dyrk2 |
T |
C |
10: 118,695,749 (GRCm39) |
D503G |
probably damaging |
Het |
| Enpp1 |
T |
A |
10: 24,521,325 (GRCm39) |
I801F |
possibly damaging |
Het |
| Klk1b5 |
T |
A |
7: 43,865,928 (GRCm39) |
W2R |
probably benign |
Het |
| Lama2 |
T |
C |
10: 27,064,261 (GRCm39) |
K1240R |
probably benign |
Het |
| Matn2 |
A |
G |
15: 34,403,002 (GRCm39) |
N409S |
probably benign |
Het |
| Mep1b |
A |
T |
18: 21,217,243 (GRCm39) |
K121* |
probably null |
Het |
| Mettl26 |
T |
C |
17: 26,095,098 (GRCm39) |
|
probably null |
Het |
| Myh7 |
T |
C |
14: 55,224,845 (GRCm39) |
E574G |
probably damaging |
Het |
| Nfkbie |
G |
A |
17: 45,871,139 (GRCm39) |
|
probably null |
Het |
| Nlrc4 |
T |
C |
17: 74,753,529 (GRCm39) |
R285G |
probably benign |
Het |
| Pax8 |
T |
C |
2: 24,333,144 (GRCm39) |
Y66C |
probably damaging |
Het |
| Plxna2 |
A |
G |
1: 194,482,876 (GRCm39) |
D1523G |
probably damaging |
Het |
| Pou2f1 |
A |
G |
1: 165,724,159 (GRCm39) |
|
probably benign |
Het |
| Prom1 |
A |
G |
5: 44,164,363 (GRCm39) |
|
probably null |
Het |
| Ptk6 |
T |
C |
2: 180,837,611 (GRCm39) |
D436G |
probably benign |
Het |
| Robo4 |
T |
A |
9: 37,319,525 (GRCm39) |
F592I |
probably damaging |
Het |
| Sec24c |
C |
A |
14: 20,743,271 (GRCm39) |
S964R |
probably benign |
Het |
| Sgcb |
G |
T |
5: 73,793,021 (GRCm39) |
N260K |
possibly damaging |
Het |
| Smarcd2 |
T |
C |
11: 106,156,730 (GRCm39) |
D221G |
probably damaging |
Het |
| Unc13b |
C |
T |
4: 43,240,285 (GRCm39) |
R3569W |
probably damaging |
Het |
| Zfpl1 |
C |
A |
19: 6,131,137 (GRCm39) |
R285L |
possibly damaging |
Het |
|
| Other mutations in Fnbp4 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00731:Fnbp4
|
APN |
2 |
90,598,987 (GRCm39) |
missense |
probably benign |
|
|
IGL01021:Fnbp4
|
APN |
2 |
90,608,013 (GRCm39) |
missense |
probably benign |
0.06 |
|
IGL01097:Fnbp4
|
APN |
2 |
90,606,694 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
IGL02504:Fnbp4
|
APN |
2 |
90,598,887 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02510:Fnbp4
|
APN |
2 |
90,581,819 (GRCm39) |
missense |
probably benign |
|
|
IGL02673:Fnbp4
|
APN |
2 |
90,593,816 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL03024:Fnbp4
|
APN |
2 |
90,581,523 (GRCm39) |
missense |
probably benign |
0.11 |
|
IGL03221:Fnbp4
|
APN |
2 |
90,608,062 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R0570:Fnbp4
|
UTSW |
2 |
90,583,301 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1914:Fnbp4
|
UTSW |
2 |
90,609,537 (GRCm39) |
unclassified |
probably benign |
|
|
R1925:Fnbp4
|
UTSW |
2 |
90,596,187 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2051:Fnbp4
|
UTSW |
2 |
90,587,876 (GRCm39) |
missense |
probably benign |
0.05 |
|
R2069:Fnbp4
|
UTSW |
2 |
90,588,716 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2165:Fnbp4
|
UTSW |
2 |
90,597,743 (GRCm39) |
splice site |
probably null |
|
|
R2262:Fnbp4
|
UTSW |
2 |
90,587,748 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3836:Fnbp4
|
UTSW |
2 |
90,577,129 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4077:Fnbp4
|
UTSW |
2 |
90,588,821 (GRCm39) |
nonsense |
probably null |
|
|
R4356:Fnbp4
|
UTSW |
2 |
90,588,683 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4401:Fnbp4
|
UTSW |
2 |
90,577,102 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
R4491:Fnbp4
|
UTSW |
2 |
90,583,312 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4914:Fnbp4
|
UTSW |
2 |
90,581,513 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4981:Fnbp4
|
UTSW |
2 |
90,596,174 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5165:Fnbp4
|
UTSW |
2 |
90,608,001 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R5272:Fnbp4
|
UTSW |
2 |
90,583,459 (GRCm39) |
missense |
probably benign |
|
|
R5683:Fnbp4
|
UTSW |
2 |
90,583,206 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5860:Fnbp4
|
UTSW |
2 |
90,587,826 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5905:Fnbp4
|
UTSW |
2 |
90,581,478 (GRCm39) |
missense |
probably benign |
0.29 |
|
R5914:Fnbp4
|
UTSW |
2 |
90,605,137 (GRCm39) |
intron |
probably benign |
|
|
R6028:Fnbp4
|
UTSW |
2 |
90,581,478 (GRCm39) |
missense |
probably benign |
0.29 |
|
R6270:Fnbp4
|
UTSW |
2 |
90,587,807 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6379:Fnbp4
|
UTSW |
2 |
90,581,468 (GRCm39) |
missense |
probably benign |
0.41 |
|
R6389:Fnbp4
|
UTSW |
2 |
90,575,879 (GRCm39) |
missense |
unknown |
|
|
R6883:Fnbp4
|
UTSW |
2 |
90,576,172 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6940:Fnbp4
|
UTSW |
2 |
90,575,858 (GRCm39) |
missense |
unknown |
|
|
R7242:Fnbp4
|
UTSW |
2 |
90,576,140 (GRCm39) |
missense |
unknown |
|
|
R7393:Fnbp4
|
UTSW |
2 |
90,609,660 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7454:Fnbp4
|
UTSW |
2 |
90,608,159 (GRCm39) |
unclassified |
probably benign |
|
|
R7455:Fnbp4
|
UTSW |
2 |
90,608,159 (GRCm39) |
unclassified |
probably benign |
|
|
R8051:Fnbp4
|
UTSW |
2 |
90,608,083 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R8283:Fnbp4
|
UTSW |
2 |
90,577,115 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8724:Fnbp4
|
UTSW |
2 |
90,577,097 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8845:Fnbp4
|
UTSW |
2 |
90,606,368 (GRCm39) |
missense |
probably benign |
|
|
R9103:Fnbp4
|
UTSW |
2 |
90,608,187 (GRCm39) |
missense |
probably benign |
|
|
R9140:Fnbp4
|
UTSW |
2 |
90,576,077 (GRCm39) |
missense |
unknown |
|
|
R9617:Fnbp4
|
UTSW |
2 |
90,588,738 (GRCm39) |
missense |
probably benign |
0.28 |
|
| Posted On |
2012-04-20 |
Incidental Mutation