Incidental Mutation 'IGL01021:Fnbp4'
| ID |
53462 |
| 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: 0.934)
|
| Stock # |
IGL01021
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
90575793-90611365 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 90608013 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Valine
at position 912
(M912V)
|
| 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
AA Change: M912V
PolyPhen 2
Score 0.063 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000013759
Gene: ENSMUSG00000008200
AA Change: M912V
| 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: ENSMUST00000123314
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000123955
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000135592
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000141672
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 33 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930533L02Rik |
T |
C |
7: 124,917,848 (GRCm39) |
V80A |
unknown |
Het |
| Adam28 |
A |
G |
14: 68,879,563 (GRCm39) |
S162P |
probably benign |
Het |
| Adamts14 |
G |
T |
10: 61,061,152 (GRCm39) |
S426Y |
probably damaging |
Het |
| Ankrd24 |
A |
G |
10: 81,470,995 (GRCm39) |
|
probably null |
Het |
| B3galt5 |
C |
A |
16: 96,116,923 (GRCm39) |
H185Q |
probably benign |
Het |
| Bod1l |
A |
G |
5: 41,995,516 (GRCm39) |
|
probably benign |
Het |
| Ddx46 |
T |
A |
13: 55,814,145 (GRCm39) |
Y700* |
probably null |
Het |
| Dph7 |
T |
G |
2: 24,861,935 (GRCm39) |
|
probably null |
Het |
| Eif1ad9 |
G |
A |
12: 88,296,042 (GRCm39) |
G7R |
unknown |
Het |
| Fcho1 |
A |
T |
8: 72,166,167 (GRCm39) |
Y354* |
probably null |
Het |
| Fpgt |
T |
A |
3: 154,797,129 (GRCm39) |
E42V |
possibly damaging |
Het |
| Frmd3 |
A |
G |
4: 73,992,357 (GRCm39) |
I75V |
possibly damaging |
Het |
| Gm3278 |
G |
T |
14: 16,082,261 (GRCm39) |
V159L |
possibly damaging |
Het |
| Gmds |
T |
C |
13: 32,311,013 (GRCm39) |
I205V |
possibly damaging |
Het |
| Gprin1 |
T |
A |
13: 54,888,182 (GRCm39) |
S31C |
probably damaging |
Het |
| Igkv4-68 |
T |
C |
6: 69,281,865 (GRCm39) |
E102G |
probably damaging |
Het |
| Itga1 |
T |
A |
13: 115,133,536 (GRCm39) |
Y458F |
probably benign |
Het |
| Kif20b |
T |
C |
19: 34,915,660 (GRCm39) |
V479A |
possibly damaging |
Het |
| Megf8 |
T |
A |
7: 25,037,799 (GRCm39) |
W772R |
probably benign |
Het |
| Muc6 |
T |
A |
7: 141,217,075 (GRCm39) |
I2533F |
possibly damaging |
Het |
| Npas3 |
T |
C |
12: 54,050,343 (GRCm39) |
S258P |
probably damaging |
Het |
| Padi3 |
T |
C |
4: 140,523,645 (GRCm39) |
|
probably benign |
Het |
| Pmfbp1 |
G |
T |
8: 110,264,625 (GRCm39) |
R897L |
possibly damaging |
Het |
| Rims1 |
A |
T |
1: 22,525,701 (GRCm39) |
W407R |
probably damaging |
Het |
| Scnn1b |
G |
T |
7: 121,517,259 (GRCm39) |
D632Y |
probably damaging |
Het |
| Tas2r123 |
G |
A |
6: 132,824,369 (GRCm39) |
A89T |
probably benign |
Het |
| Tbk1 |
T |
C |
10: 121,387,177 (GRCm39) |
E706G |
probably benign |
Het |
| Thra |
A |
G |
11: 98,653,754 (GRCm39) |
D195G |
possibly damaging |
Het |
| Tpp2 |
T |
A |
1: 43,973,347 (GRCm39) |
Y33* |
probably null |
Het |
| Usp6nl |
T |
A |
2: 6,429,198 (GRCm39) |
M220K |
probably damaging |
Het |
| Vmn2r112 |
C |
T |
17: 22,837,885 (GRCm39) |
T782I |
probably damaging |
Het |
| Zbtb43 |
T |
C |
2: 33,343,771 (GRCm39) |
T485A |
probably benign |
Het |
| Zfat |
T |
C |
15: 68,042,015 (GRCm39) |
I840V |
possibly damaging |
Het |
|
| Other mutations in Fnbp4 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00392:Fnbp4
|
APN |
2 |
90,581,966 (GRCm39) |
splice site |
probably benign |
|
|
IGL00731:Fnbp4
|
APN |
2 |
90,598,987 (GRCm39) |
missense |
probably benign |
|
|
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 |
2013-06-28 |
Incidental Mutation