Incidental Mutation 'IGL01772:Rbfox3'
ID |
153693 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Rbfox3
|
Ensembl Gene |
ENSMUSG00000025576 |
Gene Name |
RNA binding protein, fox-1 homolog (C. elegans) 3 |
Synonyms |
NeuN, D11Bwg0517e, Hrnbp3, Neuna60 |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.149)
|
Stock # |
IGL01772
|
Quality Score |
|
Status
|
|
Chromosome |
11 |
Chromosomal Location |
118380588-118802423 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to T
at 118387797 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Alanine to Glutamic Acid
at position 241
(A241E)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000113987
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000017576]
[ENSMUST00000069343]
[ENSMUST00000103023]
[ENSMUST00000106278]
[ENSMUST00000117731]
[ENSMUST00000120061]
[ENSMUST00000154746]
|
AlphaFold |
Q8BIF2 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000017576
AA Change: A241E
PolyPhen 2
Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000017576 Gene: ENSMUSG00000025576 AA Change: A241E
Domain | Start | End | E-Value | Type |
low complexity region
|
2 |
15 |
N/A |
INTRINSIC |
low complexity region
|
24 |
29 |
N/A |
INTRINSIC |
RRM
|
100 |
171 |
1.01e-24 |
SMART |
Pfam:Fox-1_C
|
208 |
269 |
1e-22 |
PFAM |
Pfam:Fox-1_C
|
279 |
345 |
3.9e-19 |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000069343
AA Change: A210E
PolyPhen 2
Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000069598 Gene: ENSMUSG00000025576 AA Change: A210E
Domain | Start | End | E-Value | Type |
low complexity region
|
2 |
15 |
N/A |
INTRINSIC |
low complexity region
|
24 |
29 |
N/A |
INTRINSIC |
RRM
|
100 |
165 |
8.3e-2 |
SMART |
Pfam:Fox-1_C
|
176 |
229 |
4.1e-15 |
PFAM |
Pfam:Fox-1_C
|
226 |
314 |
4.8e-29 |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000103023
AA Change: A241E
PolyPhen 2
Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000099312 Gene: ENSMUSG00000025576 AA Change: A241E
Domain | Start | End | E-Value | Type |
low complexity region
|
2 |
15 |
N/A |
INTRINSIC |
low complexity region
|
24 |
29 |
N/A |
INTRINSIC |
RRM
|
100 |
171 |
1.01e-24 |
SMART |
Pfam:Fox-1_C
|
207 |
298 |
4.2e-43 |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000106278
AA Change: A241E
PolyPhen 2
Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000101885 Gene: ENSMUSG00000025576 AA Change: A241E
Domain | Start | End | E-Value | Type |
low complexity region
|
2 |
15 |
N/A |
INTRINSIC |
low complexity region
|
24 |
29 |
N/A |
INTRINSIC |
RRM
|
100 |
171 |
1.01e-24 |
SMART |
Pfam:Fox-1_C
|
207 |
298 |
4.2e-43 |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000117731
AA Change: A241E
PolyPhen 2
Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000113636 Gene: ENSMUSG00000025576 AA Change: A241E
Domain | Start | End | E-Value | Type |
low complexity region
|
2 |
15 |
N/A |
INTRINSIC |
low complexity region
|
24 |
29 |
N/A |
INTRINSIC |
RRM
|
100 |
171 |
1.01e-24 |
SMART |
Pfam:Fox-1_C
|
207 |
260 |
3.5e-15 |
PFAM |
Pfam:Fox-1_C
|
257 |
345 |
4.3e-29 |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000120061
AA Change: A241E
PolyPhen 2
Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000113987 Gene: ENSMUSG00000025576 AA Change: A241E
Domain | Start | End | E-Value | Type |
low complexity region
|
2 |
15 |
N/A |
INTRINSIC |
low complexity region
|
24 |
29 |
N/A |
INTRINSIC |
RRM
|
100 |
171 |
1.01e-24 |
SMART |
Pfam:Fox-1_C
|
207 |
298 |
6.1e-43 |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000154746
AA Change: A124E
PolyPhen 2
Score 0.973 (Sensitivity: 0.76; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000118332 Gene: ENSMUSG00000025576 AA Change: A124E
Domain | Start | End | E-Value | Type |
RRM
|
1 |
54 |
8.6e-5 |
SMART |
Pfam:Fox-1_C
|
90 |
142 |
5.5e-16 |
PFAM |
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
PHENOTYPE: Mice homozygous for a null allele exhibit reduced brain weight, increased susceptibility kainic acid-induced seizures, decreased anxiety-related behaviors, and deficits in synaptic transmission and plasticity in the dentate gyrus. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 21 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1810065E05Rik |
C |
T |
11: 58,313,710 (GRCm39) |
P113S |
probably benign |
Het |
Ano2 |
T |
C |
6: 126,013,821 (GRCm39) |
Y881H |
probably damaging |
Het |
Coro2b |
G |
T |
9: 62,333,090 (GRCm39) |
P131T |
probably damaging |
Het |
Glra3 |
A |
G |
8: 56,542,090 (GRCm39) |
I278V |
probably benign |
Het |
Grin2d |
T |
C |
7: 45,507,890 (GRCm39) |
D392G |
probably benign |
Het |
Ifrd2 |
A |
G |
9: 107,469,331 (GRCm39) |
S360G |
probably benign |
Het |
Kdelr3 |
A |
T |
15: 79,407,121 (GRCm39) |
|
probably benign |
Het |
Mtdh |
T |
A |
15: 34,140,027 (GRCm39) |
S345R |
probably damaging |
Het |
Mtrex |
A |
G |
13: 113,027,859 (GRCm39) |
F667S |
probably benign |
Het |
Ncor1 |
G |
A |
11: 62,240,173 (GRCm39) |
|
probably benign |
Het |
Nf1 |
T |
A |
11: 79,281,075 (GRCm39) |
V110D |
probably damaging |
Het |
Nlk |
T |
A |
11: 78,480,201 (GRCm39) |
H256L |
probably damaging |
Het |
Or52w1 |
A |
T |
7: 105,017,641 (GRCm39) |
D36V |
probably benign |
Het |
Or52z13 |
T |
A |
7: 103,247,120 (GRCm39) |
I199N |
probably benign |
Het |
Or8c16 |
A |
T |
9: 38,130,905 (GRCm39) |
Y262F |
probably damaging |
Het |
Pgr |
T |
C |
9: 8,946,637 (GRCm39) |
|
probably benign |
Het |
Ptprn |
A |
G |
1: 75,228,914 (GRCm39) |
Y834H |
probably damaging |
Het |
Tarbp1 |
G |
A |
8: 127,173,970 (GRCm39) |
|
probably benign |
Het |
Ttn |
A |
T |
2: 76,598,055 (GRCm39) |
D19619E |
probably damaging |
Het |
Unc13d |
C |
A |
11: 115,967,358 (GRCm39) |
E45D |
possibly damaging |
Het |
Vil1 |
A |
G |
1: 74,454,278 (GRCm39) |
I14V |
probably benign |
Het |
|
Other mutations in Rbfox3 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01352:Rbfox3
|
APN |
11 |
118,396,439 (GRCm39) |
splice site |
probably benign |
|
IGL01622:Rbfox3
|
APN |
11 |
118,396,440 (GRCm39) |
splice site |
probably benign |
|
IGL01623:Rbfox3
|
APN |
11 |
118,396,440 (GRCm39) |
splice site |
probably benign |
|
IGL01716:Rbfox3
|
APN |
11 |
118,404,115 (GRCm39) |
missense |
possibly damaging |
0.89 |
IGL03162:Rbfox3
|
APN |
11 |
118,387,257 (GRCm39) |
missense |
probably benign |
0.06 |
PIT4431001:Rbfox3
|
UTSW |
11 |
118,386,047 (GRCm39) |
missense |
probably damaging |
1.00 |
R0267:Rbfox3
|
UTSW |
11 |
118,386,066 (GRCm39) |
missense |
probably benign |
0.00 |
R1659:Rbfox3
|
UTSW |
11 |
118,384,981 (GRCm39) |
missense |
probably damaging |
0.99 |
R1681:Rbfox3
|
UTSW |
11 |
118,396,495 (GRCm39) |
missense |
probably damaging |
1.00 |
R1698:Rbfox3
|
UTSW |
11 |
118,386,047 (GRCm39) |
missense |
probably damaging |
1.00 |
R1731:Rbfox3
|
UTSW |
11 |
118,387,762 (GRCm39) |
critical splice donor site |
probably null |
|
R2134:Rbfox3
|
UTSW |
11 |
118,387,842 (GRCm39) |
missense |
probably damaging |
1.00 |
R2249:Rbfox3
|
UTSW |
11 |
118,394,564 (GRCm39) |
missense |
probably damaging |
0.99 |
R3051:Rbfox3
|
UTSW |
11 |
118,393,714 (GRCm39) |
missense |
probably damaging |
1.00 |
R3404:Rbfox3
|
UTSW |
11 |
118,387,283 (GRCm39) |
missense |
possibly damaging |
0.93 |
R3405:Rbfox3
|
UTSW |
11 |
118,387,283 (GRCm39) |
missense |
possibly damaging |
0.93 |
R3406:Rbfox3
|
UTSW |
11 |
118,387,283 (GRCm39) |
missense |
possibly damaging |
0.93 |
R5276:Rbfox3
|
UTSW |
11 |
118,387,178 (GRCm39) |
missense |
probably damaging |
1.00 |
R7243:Rbfox3
|
UTSW |
11 |
118,404,100 (GRCm39) |
missense |
probably damaging |
1.00 |
R7797:Rbfox3
|
UTSW |
11 |
118,387,310 (GRCm39) |
missense |
possibly damaging |
0.84 |
X0013:Rbfox3
|
UTSW |
11 |
118,387,867 (GRCm39) |
missense |
probably benign |
0.29 |
|
Posted On |
2014-02-04 |