Incidental Mutation 'R6883:Fnbp4'
ID |
536879 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Fnbp4
|
Ensembl Gene |
ENSMUSG00000008200 |
Gene Name |
formin binding protein 4 |
Synonyms |
FBP30 |
MMRRC Submission |
044978-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.918)
|
Stock # |
R6883 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
2 |
Chromosomal Location |
90575793-90611365 bp(+) (GRCm39) |
Type of Mutation |
critical splice donor site (2 bp from exon) |
DNA Base Change (assembly) |
T to C
at 90576172 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 null
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 |
|
Meta Mutation Damage Score |
0.9755 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.4%
- 20x: 98.2%
|
Validation Efficiency |
92% (45/49) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 48 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acaa1b |
A |
G |
9: 118,985,728 (GRCm39) |
S66P |
possibly damaging |
Het |
Adh7 |
A |
T |
3: 137,929,825 (GRCm39) |
E167V |
probably damaging |
Het |
Ano6 |
T |
C |
15: 95,859,992 (GRCm39) |
S705P |
probably damaging |
Het |
Arpc1b |
T |
C |
5: 145,063,739 (GRCm39) |
V329A |
probably benign |
Het |
Btla |
C |
T |
16: 45,063,092 (GRCm39) |
H152Y |
probably benign |
Het |
Cadps |
T |
C |
14: 12,465,883 (GRCm38) |
E1009G |
probably damaging |
Het |
Cttnbp2nl |
A |
G |
3: 104,918,507 (GRCm39) |
|
probably null |
Het |
Cyp4a12a |
G |
T |
4: 115,159,221 (GRCm39) |
V164F |
probably damaging |
Het |
Duox1 |
G |
T |
2: 122,155,065 (GRCm39) |
|
probably null |
Het |
Fcgbpl1 |
A |
T |
7: 27,852,260 (GRCm39) |
H1261L |
possibly damaging |
Het |
Fmo6 |
A |
G |
1: 162,757,461 (GRCm39) |
I104T |
probably damaging |
Het |
Garem1 |
T |
C |
18: 21,262,769 (GRCm39) |
T682A |
probably benign |
Het |
Gm49358 |
A |
G |
10: 86,651,762 (GRCm39) |
E188G |
probably benign |
Het |
Gm5773 |
T |
C |
3: 93,681,162 (GRCm39) |
I278T |
probably benign |
Het |
Ifi27l2a |
A |
G |
12: 103,409,756 (GRCm39) |
|
probably benign |
Het |
Inpp5d |
A |
C |
1: 87,627,412 (GRCm39) |
K308T |
probably damaging |
Het |
Irf6 |
A |
T |
1: 192,849,774 (GRCm39) |
Y232F |
probably damaging |
Het |
Kcnmb4 |
T |
C |
10: 116,309,248 (GRCm39) |
Q60R |
probably benign |
Het |
Klri2 |
T |
C |
6: 129,709,985 (GRCm39) |
D205G |
probably benign |
Het |
Mcm9 |
A |
T |
10: 53,492,110 (GRCm39) |
W352R |
probably damaging |
Het |
Nat8 |
A |
G |
6: 85,807,650 (GRCm39) |
V161A |
possibly damaging |
Het |
Nlrp9c |
A |
T |
7: 26,077,556 (GRCm39) |
M742K |
probably benign |
Het |
Or10ag58 |
C |
A |
2: 87,265,623 (GRCm39) |
T264K |
probably damaging |
Het |
Or13j1 |
T |
C |
4: 43,705,723 (GRCm39) |
T282A |
possibly damaging |
Het |
Or5an10 |
C |
A |
19: 12,275,934 (GRCm39) |
Q187H |
probably damaging |
Het |
Pcdha11 |
A |
T |
18: 37,144,242 (GRCm39) |
D111V |
probably damaging |
Het |
Pcdhb6 |
A |
T |
18: 37,468,198 (GRCm39) |
D373V |
probably damaging |
Het |
Pcolce2 |
A |
T |
9: 95,560,396 (GRCm39) |
|
probably null |
Het |
Pik3cb |
T |
C |
9: 98,983,453 (GRCm39) |
M52V |
probably benign |
Het |
Pipox |
T |
C |
11: 77,774,729 (GRCm39) |
E118G |
probably benign |
Het |
Pou4f2 |
T |
C |
8: 79,162,307 (GRCm39) |
S99G |
probably benign |
Het |
Ptpn12 |
T |
A |
5: 21,260,711 (GRCm39) |
Q12L |
probably benign |
Het |
Sim2 |
G |
T |
16: 93,926,395 (GRCm39) |
A540S |
probably benign |
Het |
Smg1 |
A |
T |
7: 117,767,403 (GRCm39) |
|
probably benign |
Het |
Sntb1 |
A |
G |
15: 55,769,719 (GRCm39) |
V90A |
probably benign |
Het |
Spns2 |
T |
C |
11: 72,347,196 (GRCm39) |
|
probably null |
Het |
Syne1 |
G |
T |
10: 5,181,704 (GRCm39) |
C4210* |
probably null |
Het |
Tek |
T |
C |
4: 94,725,426 (GRCm39) |
I564T |
possibly damaging |
Het |
Tmem94 |
T |
G |
11: 115,687,287 (GRCm39) |
C1135W |
probably damaging |
Het |
Tnxb |
T |
A |
17: 34,937,493 (GRCm39) |
D3827E |
probably damaging |
Het |
Ttl |
A |
G |
2: 128,923,992 (GRCm39) |
D235G |
possibly damaging |
Het |
Tuba4a |
A |
G |
1: 75,194,066 (GRCm39) |
S5P |
probably damaging |
Het |
Uaca |
T |
A |
9: 60,777,173 (GRCm39) |
V518D |
probably damaging |
Het |
Unc80 |
A |
T |
1: 66,685,563 (GRCm39) |
Q2229L |
probably benign |
Het |
Unkl |
C |
T |
17: 25,449,307 (GRCm39) |
A78V |
probably damaging |
Het |
Uroc1 |
C |
T |
6: 90,315,574 (GRCm39) |
Q152* |
probably null |
Het |
Vmn2r51 |
G |
T |
7: 9,834,025 (GRCm39) |
Q338K |
possibly damaging |
Het |
Vps50 |
C |
T |
6: 3,498,513 (GRCm39) |
|
probably benign |
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 |
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 |
|
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'- AATATTGATTACGCACCGGGG -3'
(R):5'- AAAGGCGCCTCAGATGAGTC -3'
Sequencing Primer
(F):5'- TCCGGCTCATGATGGGGAAG -3'
(R):5'- TCAGATGAGTCCGGGCC -3'
|
Posted On |
2018-10-18 |