Incidental Mutation 'R4356:Fnbp4'
ID |
327532 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Fnbp4
|
Ensembl Gene |
ENSMUSG00000008200 |
Gene Name |
formin binding protein 4 |
Synonyms |
FBP30 |
MMRRC Submission |
041669-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.918)
|
Stock # |
R4356 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
2 |
Chromosomal Location |
90575793-90611365 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 90588683 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Proline
at position 485
(S485P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000013759
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000013759]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000013759
AA Change: S485P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000013759 Gene: ENSMUSG00000008200 AA Change: S485P
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: ENSMUST00000145747
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000152794
|
Meta Mutation Damage Score |
0.1671 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.0%
|
Validation Efficiency |
100% (58/58) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 53 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aadacl2fm1 |
T |
A |
3: 59,843,701 (GRCm39) |
Y132N |
probably damaging |
Het |
Adam21 |
T |
C |
12: 81,605,594 (GRCm39) |
T723A |
probably damaging |
Het |
Alox5 |
C |
T |
6: 116,397,219 (GRCm39) |
V322I |
probably benign |
Het |
Alpk1 |
C |
T |
3: 127,523,022 (GRCm39) |
V7M |
probably damaging |
Het |
Ankhd1 |
A |
T |
18: 36,776,096 (GRCm39) |
K1482* |
probably null |
Het |
Cacna1e |
A |
C |
1: 154,319,727 (GRCm39) |
D1324E |
probably damaging |
Het |
Ccdc150 |
A |
G |
1: 54,392,213 (GRCm39) |
D657G |
probably damaging |
Het |
Celsr1 |
A |
G |
15: 85,863,028 (GRCm39) |
S1335P |
probably damaging |
Het |
Cfhr4 |
T |
A |
1: 139,660,048 (GRCm39) |
K621N |
probably damaging |
Het |
Cspg5 |
A |
G |
9: 110,085,245 (GRCm39) |
D391G |
probably damaging |
Het |
Defa30 |
A |
T |
8: 21,624,821 (GRCm39) |
D48V |
possibly damaging |
Het |
E2f7 |
T |
C |
10: 110,595,712 (GRCm39) |
Y136H |
probably damaging |
Het |
Fam3d |
A |
G |
14: 8,349,314 (GRCm38) |
L212P |
probably damaging |
Het |
Fbxw25 |
A |
T |
9: 109,491,153 (GRCm39) |
C122S |
probably damaging |
Het |
Fgg |
A |
T |
3: 82,920,250 (GRCm39) |
D343V |
probably damaging |
Het |
Flnb |
T |
A |
14: 7,922,700 (GRCm38) |
M1712K |
probably benign |
Het |
Ftsj3 |
G |
A |
11: 106,144,502 (GRCm39) |
A134V |
probably benign |
Het |
Gast |
C |
A |
11: 100,227,373 (GRCm39) |
S22Y |
probably damaging |
Het |
Gm20834 |
T |
A |
Y: 10,322,962 (GRCm39) |
H158L |
possibly damaging |
Het |
Ids |
C |
A |
X: 69,389,950 (GRCm39) |
G506C |
probably damaging |
Het |
Ifna15 |
G |
T |
4: 88,476,079 (GRCm39) |
T135N |
probably benign |
Het |
Igsf9b |
G |
A |
9: 27,220,774 (GRCm39) |
V47I |
possibly damaging |
Het |
Impg2 |
C |
T |
16: 56,080,527 (GRCm39) |
T777I |
probably damaging |
Het |
Kif11 |
C |
A |
19: 37,399,883 (GRCm39) |
T790K |
probably benign |
Het |
Kif24 |
A |
G |
4: 41,413,827 (GRCm39) |
|
probably null |
Het |
Klk14 |
G |
A |
7: 43,341,501 (GRCm39) |
C51Y |
probably damaging |
Het |
Lrp10 |
C |
T |
14: 54,705,823 (GRCm39) |
R338C |
probably damaging |
Het |
Mib1 |
A |
G |
18: 10,751,844 (GRCm39) |
N242S |
probably benign |
Het |
Nectin1 |
A |
G |
9: 43,703,802 (GRCm39) |
D264G |
probably benign |
Het |
Nipsnap3a |
T |
C |
4: 52,995,979 (GRCm39) |
|
probably null |
Het |
Or10al3 |
G |
T |
17: 38,011,790 (GRCm39) |
E76D |
probably damaging |
Het |
Or5w14 |
G |
A |
2: 87,542,229 (GRCm39) |
S7F |
possibly damaging |
Het |
P3h4 |
A |
G |
11: 100,304,452 (GRCm39) |
F263S |
probably damaging |
Het |
Pcdhga4 |
C |
T |
18: 37,820,664 (GRCm39) |
H738Y |
probably damaging |
Het |
Prickle2 |
A |
T |
6: 92,388,490 (GRCm39) |
I304K |
probably damaging |
Het |
Ptprq |
A |
T |
10: 107,444,225 (GRCm39) |
Y1460N |
probably damaging |
Het |
Rbl2 |
A |
G |
8: 91,833,735 (GRCm39) |
D812G |
probably damaging |
Het |
Rbm19 |
A |
G |
5: 120,278,427 (GRCm39) |
T737A |
possibly damaging |
Het |
Rbsn |
G |
A |
6: 92,184,029 (GRCm39) |
L95F |
possibly damaging |
Het |
Sall4 |
T |
C |
2: 168,597,400 (GRCm39) |
E480G |
probably benign |
Het |
Scfd1 |
T |
A |
12: 51,486,068 (GRCm39) |
N541K |
probably benign |
Het |
Scube3 |
G |
A |
17: 28,383,283 (GRCm39) |
G442S |
probably benign |
Het |
Slc15a4 |
A |
G |
5: 127,681,600 (GRCm39) |
|
probably null |
Het |
Smarcc1 |
A |
G |
9: 110,025,324 (GRCm39) |
D667G |
probably damaging |
Het |
Sned1 |
A |
T |
1: 93,193,113 (GRCm39) |
|
probably null |
Het |
Spsb1 |
T |
C |
4: 149,991,232 (GRCm39) |
H112R |
probably damaging |
Het |
Sun3 |
A |
G |
11: 8,966,328 (GRCm39) |
V231A |
probably damaging |
Het |
Vmn2r106 |
A |
T |
17: 20,499,910 (GRCm39) |
D108E |
probably benign |
Het |
Xdh |
A |
G |
17: 74,222,685 (GRCm39) |
V560A |
probably benign |
Het |
Zfp352 |
T |
A |
4: 90,112,071 (GRCm39) |
H70Q |
possibly damaging |
Het |
Zfp40 |
C |
A |
17: 23,396,164 (GRCm39) |
C73F |
probably benign |
Het |
Zfp975 |
A |
C |
7: 42,311,251 (GRCm39) |
L454R |
probably damaging |
Het |
Zik1 |
A |
T |
7: 10,224,268 (GRCm39) |
C276* |
probably null |
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 |
|
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 |
|
Predicted Primers |
PCR Primer
(F):5'- CACAGAGCATAATGTTGAGTTGTG -3'
(R):5'- TAATGGGGATCCCTTGCTTGC -3'
Sequencing Primer
(F):5'- TAATGTTGAGTTGTGAAGGAAACTG -3'
(R):5'- AGGAAGCACAAATTACCAGTTTCTC -3'
|
Posted On |
2015-07-07 |