Incidental Mutation 'IGL03334:Fnbp1l'
| ID |
416977 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| 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 # |
IGL03334
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
3 |
| Chromosomal Location |
122332368-122413363 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 122351598 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 315
(V315A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000124439
(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: V315A
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000124439
Gene: ENSMUSG00000039735
AA Change: V315A
| 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 |
noncoding transcript
Transcript: ENSMUST00000162884
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000162947
AA Change: V315A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000124947
Gene: ENSMUSG00000039735
AA Change: V315A
| 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 |
unknown
Transcript: ENSMUST00000197259
AA Change: V160A
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000197342
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 9930111J21Rik1 |
A |
G |
11: 48,838,302 (GRCm39) |
F762L |
probably benign |
Het |
| Angpt1 |
T |
A |
15: 42,359,808 (GRCm39) |
E208V |
possibly damaging |
Het |
| Arhgef18 |
A |
T |
8: 3,438,023 (GRCm39) |
I286F |
probably benign |
Het |
| Arhgef5 |
T |
C |
6: 43,250,934 (GRCm39) |
S562P |
possibly damaging |
Het |
| Asb6 |
T |
C |
2: 30,714,496 (GRCm39) |
T205A |
probably benign |
Het |
| B4galnt4 |
G |
A |
7: 140,647,354 (GRCm39) |
|
probably null |
Het |
| Clca4a |
A |
T |
3: 144,659,627 (GRCm39) |
M743K |
probably benign |
Het |
| Col14a1 |
T |
C |
15: 55,312,217 (GRCm39) |
|
probably benign |
Het |
| Col27a1 |
A |
T |
4: 63,232,959 (GRCm39) |
Y359F |
probably damaging |
Het |
| Dhcr7 |
T |
A |
7: 143,394,234 (GRCm39) |
V125D |
possibly damaging |
Het |
| Ercc3 |
T |
C |
18: 32,373,890 (GRCm39) |
|
probably null |
Het |
| Gm17174 |
T |
A |
14: 51,829,420 (GRCm39) |
R48* |
probably null |
Het |
| Golga4 |
C |
T |
9: 118,366,301 (GRCm39) |
|
probably benign |
Het |
| Grin1 |
C |
T |
2: 25,188,405 (GRCm39) |
|
probably null |
Het |
| Ifi203 |
T |
A |
1: 173,765,401 (GRCm39) |
K58* |
probably null |
Het |
| Ighv2-9-1 |
A |
G |
12: 113,733,543 (GRCm39) |
S93P |
probably benign |
Het |
| Il27ra |
A |
G |
8: 84,757,751 (GRCm39) |
V594A |
probably benign |
Het |
| Krr1 |
T |
G |
10: 111,815,959 (GRCm39) |
S275R |
probably benign |
Het |
| Lars1 |
T |
C |
18: 42,354,571 (GRCm39) |
D792G |
probably benign |
Het |
| Myo1f |
G |
A |
17: 33,817,168 (GRCm39) |
R737H |
probably damaging |
Het |
| Nebl |
T |
A |
2: 17,418,522 (GRCm39) |
H292L |
probably damaging |
Het |
| Nell1 |
C |
A |
7: 49,712,359 (GRCm39) |
|
probably null |
Het |
| Nktr |
T |
C |
9: 121,577,242 (GRCm39) |
F412L |
probably benign |
Het |
| Nlrp3 |
T |
A |
11: 59,439,842 (GRCm39) |
I473N |
probably damaging |
Het |
| Or1j10 |
T |
C |
2: 36,267,063 (GRCm39) |
Y92H |
possibly damaging |
Het |
| Phf3 |
A |
G |
1: 30,844,810 (GRCm39) |
V1383A |
probably damaging |
Het |
| Prss48 |
T |
C |
3: 85,904,625 (GRCm39) |
E191G |
probably damaging |
Het |
| Psg25 |
T |
A |
7: 18,263,699 (GRCm39) |
L41F |
probably benign |
Het |
| Sema3b |
A |
G |
9: 107,481,276 (GRCm39) |
L78P |
probably damaging |
Het |
| Spen |
G |
T |
4: 141,197,280 (GRCm39) |
N3496K |
probably damaging |
Het |
| Tbk1 |
A |
T |
10: 121,420,104 (GRCm39) |
H28Q |
possibly damaging |
Het |
| Trpv3 |
T |
A |
11: 73,172,491 (GRCm39) |
|
probably benign |
Het |
| Vmn1r218 |
T |
C |
13: 23,320,788 (GRCm39) |
L45P |
probably damaging |
Het |
| Vmn2r35 |
T |
A |
7: 7,789,493 (GRCm39) |
Y748F |
probably damaging |
Het |
| Vps18 |
C |
T |
2: 119,127,963 (GRCm39) |
R929W |
probably damaging |
Het |
| Xpnpep1 |
T |
C |
19: 52,998,577 (GRCm39) |
K224E |
probably damaging |
Het |
| Zbed5 |
T |
A |
5: 129,931,196 (GRCm39) |
F382I |
possibly 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 |
|
|
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 |
|
R5163:Fnbp1l
|
UTSW |
3 |
122,338,312 (GRCm39) |
missense |
probably benign |
0.00 |
|
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 |
|
| Posted On |
2016-08-02 |
Incidental Mutation