Incidental Mutation 'IGL01750:Fnbp1l'
| ID |
153098 |
| 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 # |
IGL01750
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
3 |
| Chromosomal Location |
122332368-122413363 bp(-) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
G to T
at 122338326 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Stop codon
at position 351
(Y351*)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000162409]
[ENSMUST00000162947]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably null
Transcript: ENSMUST00000162409
AA Change: Y448*
|
| SMART Domains |
Protein: ENSMUSP00000124439
Gene: ENSMUSG00000039735
AA Change: Y448*
| 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 null
Transcript: ENSMUST00000162947
AA Change: Y506*
|
| SMART Domains |
Protein: ENSMUSP00000124947
Gene: ENSMUSG00000039735
AA Change: Y506*
| 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 |
probably null
Transcript: ENSMUST00000197259
AA Change: Y351*
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000197342
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 29 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Alpk3 |
A |
G |
7: 80,742,030 (GRCm39) |
R616G |
probably damaging |
Het |
| Cacna1b |
G |
A |
2: 24,544,407 (GRCm39) |
P1260S |
probably damaging |
Het |
| Ccz1 |
A |
T |
5: 143,940,880 (GRCm39) |
Y225N |
probably damaging |
Het |
| Col15a1 |
C |
T |
4: 47,303,897 (GRCm39) |
P1101S |
probably damaging |
Het |
| Cyp2d22 |
T |
A |
15: 82,258,570 (GRCm39) |
H97L |
probably benign |
Het |
| Emsy |
G |
A |
7: 98,268,508 (GRCm39) |
S511F |
probably damaging |
Het |
| Gm5263 |
T |
G |
1: 146,296,302 (GRCm39) |
|
noncoding transcript |
Het |
| Hook2 |
T |
C |
8: 85,719,865 (GRCm39) |
|
probably null |
Het |
| Hrob |
T |
C |
11: 102,145,777 (GRCm39) |
|
probably benign |
Het |
| Itgb4 |
G |
A |
11: 115,879,752 (GRCm39) |
V635I |
probably damaging |
Het |
| Kmt2d |
G |
A |
15: 98,751,049 (GRCm39) |
|
probably benign |
Het |
| Lpin1 |
T |
C |
12: 16,627,177 (GRCm39) |
N123S |
probably benign |
Het |
| Man2c1 |
T |
C |
9: 57,048,064 (GRCm39) |
|
probably null |
Het |
| Obscn |
T |
C |
11: 58,922,465 (GRCm39) |
E6558G |
probably damaging |
Het |
| Or2j6 |
T |
C |
7: 139,980,570 (GRCm39) |
T130A |
probably benign |
Het |
| Or2n1 |
G |
T |
17: 38,486,577 (GRCm39) |
V201L |
probably benign |
Het |
| Or8b48 |
C |
T |
9: 38,492,809 (GRCm39) |
P79S |
probably damaging |
Het |
| Pcdh7 |
A |
G |
5: 57,877,764 (GRCm39) |
T440A |
probably damaging |
Het |
| Pitx1 |
A |
G |
13: 55,974,304 (GRCm39) |
Y176H |
probably damaging |
Het |
| Plec |
A |
G |
15: 76,057,589 (GRCm39) |
V4116A |
probably damaging |
Het |
| Polrmt |
A |
G |
10: 79,575,680 (GRCm39) |
V617A |
possibly damaging |
Het |
| Pprc1 |
T |
C |
19: 46,060,268 (GRCm39) |
|
probably benign |
Het |
| Rbm19 |
G |
A |
5: 120,256,857 (GRCm39) |
A57T |
probably benign |
Het |
| Rin1 |
T |
C |
19: 5,102,064 (GRCm39) |
I134T |
possibly damaging |
Het |
| Thumpd2 |
G |
A |
17: 81,361,815 (GRCm39) |
A137V |
probably benign |
Het |
| Tle4 |
T |
C |
19: 14,427,153 (GRCm39) |
Y756C |
probably damaging |
Het |
| Tln1 |
A |
G |
4: 43,545,435 (GRCm39) |
L986P |
probably damaging |
Het |
| Tmem132c |
C |
A |
5: 127,540,023 (GRCm39) |
Q350K |
possibly damaging |
Het |
| Zfp474 |
A |
G |
18: 52,772,349 (GRCm39) |
N334S |
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 |
|
|
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 |
|
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 |
2014-02-04 |
Incidental Mutation