Incidental Mutation 'R5163:Fnbp1l'
ID |
397087 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Fnbp1l
|
Ensembl Gene |
ENSMUSG00000039735 |
Gene Name |
formin binding protein 1-like |
Synonyms |
TOCA1, 2610318I01Rik |
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R5163 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
3 |
Chromosomal Location |
122332368-122413363 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 122338312 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Serine
at position 511
(N511S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000124947
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000162409]
[ENSMUST00000162947]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably benign
Transcript: ENSMUST00000162409
AA Change: N453S
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
SMART Domains |
Protein: ENSMUSP00000124439 Gene: ENSMUSG00000039735 AA Change: N453S
Domain | Start | End | E-Value | Type |
FCH
|
1 |
93 |
4.83e-18 |
SMART |
coiled coil region
|
131 |
177 |
N/A |
INTRINSIC |
PDB:2KE4|A
|
331 |
426 |
3e-30 |
PDB |
low complexity region
|
468 |
477 |
N/A |
INTRINSIC |
SH3
|
483 |
540 |
5.27e-16 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000162947
AA Change: N511S
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
SMART Domains |
Protein: ENSMUSP00000124947 Gene: ENSMUSG00000039735 AA Change: N511S
Domain | Start | End | E-Value | Type |
FCH
|
1 |
93 |
4.83e-18 |
SMART |
coiled coil region
|
131 |
177 |
N/A |
INTRINSIC |
low complexity region
|
333 |
347 |
N/A |
INTRINSIC |
PDB:2KE4|A
|
389 |
484 |
4e-30 |
PDB |
low complexity region
|
526 |
535 |
N/A |
INTRINSIC |
SH3
|
541 |
598 |
5.27e-16 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000196051
|
Predicted Effect |
unknown
Transcript: ENSMUST00000197259
AA Change: N356S
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000197342
|
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.1%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 43 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2700049A03Rik |
G |
T |
12: 71,211,320 (GRCm39) |
E685* |
probably null |
Het |
2700049A03Rik |
A |
T |
12: 71,211,321 (GRCm39) |
E685V |
possibly damaging |
Het |
Bcor |
C |
T |
X: 11,906,725 (GRCm39) |
R1551Q |
probably damaging |
Het |
Btbd19 |
T |
G |
4: 116,978,628 (GRCm39) |
I152L |
probably damaging |
Het |
Dnaaf11 |
T |
C |
15: 66,314,067 (GRCm39) |
D311G |
probably benign |
Het |
Dync2i1 |
C |
T |
12: 116,219,486 (GRCm39) |
R152H |
possibly damaging |
Het |
Ercc6l2 |
A |
G |
13: 64,046,845 (GRCm39) |
|
probably benign |
Het |
Fat4 |
A |
G |
3: 39,034,946 (GRCm39) |
D2866G |
probably damaging |
Het |
Fkbp10 |
C |
T |
11: 100,313,925 (GRCm39) |
A311V |
probably benign |
Het |
Gkn3 |
C |
T |
6: 87,360,507 (GRCm39) |
A163T |
probably damaging |
Het |
Gltp |
A |
G |
5: 114,812,122 (GRCm39) |
I147T |
probably benign |
Het |
Gpr37 |
A |
T |
6: 25,669,614 (GRCm39) |
I410N |
possibly damaging |
Het |
Hivep2 |
G |
A |
10: 14,015,169 (GRCm39) |
G1779R |
probably damaging |
Het |
Ifna14 |
T |
C |
4: 88,489,599 (GRCm39) |
Y146C |
probably damaging |
Het |
Loxhd1 |
A |
G |
18: 77,449,432 (GRCm39) |
D662G |
possibly damaging |
Het |
Lrrc9 |
A |
T |
12: 72,496,163 (GRCm39) |
I13F |
probably damaging |
Het |
Map2k3 |
T |
A |
11: 60,834,317 (GRCm39) |
I95N |
probably damaging |
Het |
Mark1 |
A |
G |
1: 184,637,807 (GRCm39) |
I594T |
probably damaging |
Het |
Mettl14 |
T |
C |
3: 123,168,474 (GRCm39) |
I189V |
possibly damaging |
Het |
Msh2 |
C |
A |
17: 88,030,841 (GRCm39) |
A906E |
probably benign |
Het |
Odf4 |
C |
A |
11: 68,813,672 (GRCm39) |
C133F |
probably damaging |
Het |
Opa1 |
A |
T |
16: 29,416,438 (GRCm39) |
Q106L |
probably damaging |
Het |
Or10d5j |
T |
C |
9: 39,868,216 (GRCm39) |
N5S |
probably damaging |
Het |
Pax4 |
T |
G |
6: 28,446,269 (GRCm39) |
S75R |
probably damaging |
Het |
Ppfibp1 |
T |
A |
6: 146,923,629 (GRCm39) |
|
probably null |
Het |
Ptpn20 |
T |
C |
14: 33,353,068 (GRCm39) |
I269T |
probably benign |
Het |
Ptprq |
T |
C |
10: 107,360,192 (GRCm39) |
Q2161R |
probably damaging |
Het |
Rab22a |
A |
G |
2: 173,503,280 (GRCm39) |
D31G |
probably damaging |
Het |
Rap1gds1 |
A |
T |
3: 138,664,817 (GRCm39) |
M296K |
probably damaging |
Het |
Rfx1 |
A |
G |
8: 84,819,840 (GRCm39) |
T692A |
probably damaging |
Het |
Sf3b2 |
A |
G |
19: 5,325,165 (GRCm39) |
V769A |
probably damaging |
Het |
Skint5 |
A |
T |
4: 113,652,762 (GRCm39) |
F621I |
unknown |
Het |
Spink5 |
A |
C |
18: 44,132,924 (GRCm39) |
R513S |
possibly damaging |
Het |
Srrm2 |
C |
T |
17: 24,038,524 (GRCm39) |
|
probably benign |
Het |
Srrt |
A |
G |
5: 137,295,035 (GRCm39) |
|
probably null |
Het |
Sun3 |
T |
C |
11: 8,973,295 (GRCm39) |
Q134R |
possibly damaging |
Het |
Tpo |
A |
G |
12: 30,155,979 (GRCm39) |
V174A |
probably benign |
Het |
Ucp1 |
A |
G |
8: 84,020,832 (GRCm39) |
R183G |
possibly damaging |
Het |
Vmn2r66 |
A |
G |
7: 84,656,017 (GRCm39) |
V333A |
probably benign |
Het |
Zfp108 |
G |
T |
7: 23,960,163 (GRCm39) |
K251N |
probably benign |
Het |
Zfp936 |
A |
G |
7: 42,839,664 (GRCm39) |
Q377R |
probably damaging |
Het |
Zkscan2 |
T |
C |
7: 123,099,090 (GRCm39) |
E34G |
probably benign |
Het |
Zup1 |
T |
A |
10: 33,825,439 (GRCm39) |
E14D |
probably damaging |
Het |
|
Other mutations in Fnbp1l |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00780:Fnbp1l
|
APN |
3 |
122,342,898 (GRCm39) |
missense |
possibly damaging |
0.81 |
IGL01655:Fnbp1l
|
APN |
3 |
122,362,398 (GRCm39) |
splice site |
probably null |
|
IGL01750:Fnbp1l
|
APN |
3 |
122,338,326 (GRCm39) |
nonsense |
probably null |
|
IGL02040:Fnbp1l
|
APN |
3 |
122,364,602 (GRCm39) |
splice site |
probably benign |
|
IGL02187:Fnbp1l
|
APN |
3 |
122,362,449 (GRCm39) |
nonsense |
probably null |
|
IGL03334:Fnbp1l
|
APN |
3 |
122,351,598 (GRCm39) |
missense |
probably benign |
0.00 |
R0347:Fnbp1l
|
UTSW |
3 |
122,383,824 (GRCm39) |
missense |
probably damaging |
1.00 |
R0382:Fnbp1l
|
UTSW |
3 |
122,364,602 (GRCm39) |
splice site |
probably benign |
|
R1401:Fnbp1l
|
UTSW |
3 |
122,339,955 (GRCm39) |
missense |
probably damaging |
0.97 |
R1746:Fnbp1l
|
UTSW |
3 |
122,350,140 (GRCm39) |
missense |
probably benign |
|
R1778:Fnbp1l
|
UTSW |
3 |
122,383,796 (GRCm39) |
missense |
possibly damaging |
0.89 |
R1861:Fnbp1l
|
UTSW |
3 |
122,354,581 (GRCm39) |
missense |
probably damaging |
1.00 |
R2202:Fnbp1l
|
UTSW |
3 |
122,340,611 (GRCm39) |
missense |
probably benign |
0.00 |
R3407:Fnbp1l
|
UTSW |
3 |
122,345,799 (GRCm39) |
missense |
probably damaging |
1.00 |
R3434:Fnbp1l
|
UTSW |
3 |
122,339,955 (GRCm39) |
missense |
probably damaging |
0.97 |
R3947:Fnbp1l
|
UTSW |
3 |
122,338,228 (GRCm39) |
missense |
possibly damaging |
0.78 |
R4667:Fnbp1l
|
UTSW |
3 |
122,350,216 (GRCm39) |
missense |
probably benign |
0.04 |
R4771:Fnbp1l
|
UTSW |
3 |
122,351,752 (GRCm39) |
missense |
possibly damaging |
0.54 |
R4858:Fnbp1l
|
UTSW |
3 |
122,339,964 (GRCm39) |
missense |
probably benign |
0.30 |
R6151:Fnbp1l
|
UTSW |
3 |
122,364,579 (GRCm39) |
missense |
possibly damaging |
0.89 |
R6153:Fnbp1l
|
UTSW |
3 |
122,352,805 (GRCm39) |
missense |
probably benign |
0.01 |
R6452:Fnbp1l
|
UTSW |
3 |
122,338,198 (GRCm39) |
missense |
probably damaging |
1.00 |
R6458:Fnbp1l
|
UTSW |
3 |
122,350,089 (GRCm39) |
missense |
probably damaging |
0.96 |
R6788:Fnbp1l
|
UTSW |
3 |
122,339,956 (GRCm39) |
nonsense |
probably null |
|
R7397:Fnbp1l
|
UTSW |
3 |
122,338,286 (GRCm39) |
missense |
probably benign |
0.13 |
R9182:Fnbp1l
|
UTSW |
3 |
122,363,345 (GRCm39) |
missense |
probably damaging |
1.00 |
R9525:Fnbp1l
|
UTSW |
3 |
122,352,703 (GRCm39) |
missense |
probably damaging |
0.99 |
|
Predicted Primers |
PCR Primer
(F):5'- CCTTTTCTGAGGAGGAAGGG -3'
(R):5'- GAATTACCACATTCAGTCTGCATAG -3'
Sequencing Primer
(F):5'- ACAGACTAGAGAGGAAGCCATC -3'
(R):5'- CCACATTCAGTCTGCATAGTTAATG -3'
|
Posted On |
2016-06-21 |