Incidental Mutation 'R5272:Fnbp4'
| ID |
400385 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Fnbp4
|
| Ensembl Gene |
ENSMUSG00000008200 |
| Gene Name |
formin binding protein 4 |
| Synonyms |
FBP30 |
| MMRRC Submission |
042836-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.918)
|
| Stock # |
R5272 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
90575793-90611365 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 90583459 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Isoleucine
at position 327
(M327I)
|
| 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: M327I
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000013759
Gene: ENSMUSG00000008200
AA Change: M327I
| 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: ENSMUST00000126829
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000152794
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.3%
- 10x: 96.4%
- 20x: 93.0%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Actl6a |
A |
G |
3: 32,772,759 (GRCm39) |
E245G |
probably damaging |
Het |
| Arsb |
A |
T |
13: 93,930,670 (GRCm39) |
T213S |
possibly damaging |
Het |
| Cep152 |
G |
A |
2: 125,452,950 (GRCm39) |
T374I |
probably benign |
Het |
| Crx |
C |
T |
7: 15,602,210 (GRCm39) |
C156Y |
probably damaging |
Het |
| Csmd1 |
T |
A |
8: 16,249,958 (GRCm39) |
T1007S |
probably damaging |
Het |
| Cyp19a1 |
A |
T |
9: 54,083,898 (GRCm39) |
C164S |
probably benign |
Het |
| Ddx55 |
A |
T |
5: 124,696,092 (GRCm39) |
I137F |
possibly damaging |
Het |
| Dgkg |
C |
A |
16: 22,407,044 (GRCm39) |
|
probably null |
Het |
| Dicer1 |
A |
G |
12: 104,670,499 (GRCm39) |
I1022T |
probably damaging |
Het |
| Dis3l2 |
T |
C |
1: 86,901,126 (GRCm39) |
V439A |
possibly damaging |
Het |
| Dnah5 |
T |
C |
15: 28,350,811 (GRCm39) |
V2611A |
probably benign |
Het |
| Dnah6 |
A |
G |
6: 73,104,844 (GRCm39) |
|
probably null |
Het |
| Ercc6 |
A |
T |
14: 32,240,985 (GRCm39) |
K170* |
probably null |
Het |
| Fibcd1 |
A |
T |
2: 31,706,635 (GRCm39) |
C399S |
probably damaging |
Het |
| Fibcd1 |
G |
T |
2: 31,706,636 (GRCm39) |
N398K |
probably damaging |
Het |
| Fryl |
A |
T |
5: 73,222,479 (GRCm39) |
L256* |
probably null |
Het |
| Galr1 |
T |
A |
18: 82,423,761 (GRCm39) |
Y172F |
probably benign |
Het |
| Gpi1 |
T |
C |
7: 33,920,115 (GRCm39) |
N186S |
probably damaging |
Het |
| Kcnh8 |
A |
G |
17: 53,212,043 (GRCm39) |
I614V |
probably damaging |
Het |
| Krt23 |
A |
T |
11: 99,369,099 (GRCm39) |
I398N |
probably damaging |
Het |
| Mia3 |
G |
A |
1: 183,109,125 (GRCm39) |
R656* |
probably null |
Het |
| Mup6 |
G |
C |
4: 60,005,922 (GRCm39) |
G138A |
probably damaging |
Het |
| Nectin3 |
A |
G |
16: 46,268,839 (GRCm39) |
V521A |
possibly damaging |
Het |
| Nhsl3 |
T |
C |
4: 129,118,005 (GRCm39) |
T208A |
possibly damaging |
Het |
| Nphs1 |
A |
G |
7: 30,181,067 (GRCm39) |
E1096G |
possibly damaging |
Het |
| Or8s5 |
G |
A |
15: 98,238,246 (GRCm39) |
A208V |
probably benign |
Het |
| Panx1 |
C |
T |
9: 14,956,152 (GRCm39) |
|
probably null |
Het |
| Pcdhb4 |
A |
G |
18: 37,440,819 (GRCm39) |
Y43C |
probably benign |
Het |
| Plbd1 |
A |
G |
6: 136,617,156 (GRCm39) |
Y62H |
probably damaging |
Het |
| Rab40b |
A |
G |
11: 121,248,134 (GRCm39) |
V190A |
probably damaging |
Het |
| Ryr3 |
T |
C |
2: 112,483,558 (GRCm39) |
E4063G |
probably damaging |
Het |
| Smlr1 |
T |
C |
10: 25,411,925 (GRCm39) |
I21V |
probably benign |
Het |
| Tenm4 |
T |
A |
7: 96,523,410 (GRCm39) |
Y1614N |
probably damaging |
Het |
| Tesmin |
C |
A |
19: 3,456,992 (GRCm39) |
A257E |
probably damaging |
Het |
| Tgif1 |
A |
G |
17: 71,153,249 (GRCm39) |
L34P |
probably damaging |
Het |
| Ticrr |
C |
A |
7: 79,319,353 (GRCm39) |
T446K |
probably benign |
Het |
| Tmc7 |
A |
G |
7: 118,160,276 (GRCm39) |
I187T |
probably benign |
Het |
| Tpst2 |
T |
A |
5: 112,455,818 (GRCm39) |
V119E |
probably damaging |
Het |
| Trf |
A |
T |
9: 103,105,177 (GRCm39) |
M45K |
probably damaging |
Het |
| Trim45 |
T |
C |
3: 100,837,235 (GRCm39) |
C524R |
probably damaging |
Het |
| Ttc27 |
G |
A |
17: 75,049,972 (GRCm39) |
V293I |
probably damaging |
Het |
| Ugt1a6b |
C |
T |
1: 88,034,949 (GRCm39) |
R96C |
possibly damaging |
Het |
| Vit |
A |
G |
17: 78,894,264 (GRCm39) |
Q222R |
probably benign |
Het |
| Zfp148 |
T |
A |
16: 33,316,594 (GRCm39) |
V380D |
probably 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 |
|
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGGGATTACAACATTACCAGCC -3'
(R):5'- GGAATCGCTGACATGGTTGG -3'
Sequencing Primer
(F):5'- AGCCCAGGTAATTCTAGAACTG -3'
(R):5'- TGCTGTCTAAGACACAGAGAC -3'
|
| Posted On |
2016-07-06 |
Incidental Mutation