Incidental Mutation 'R3051:Rbfox3'
| ID |
264962 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rbfox3
|
| Ensembl Gene |
ENSMUSG00000025576 |
| Gene Name |
RNA binding protein, fox-1 homolog (C. elegans) 3 |
| Synonyms |
NeuN, D11Bwg0517e, Hrnbp3, Neuna60 |
| MMRRC Submission |
040560-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.149)
|
| Stock # |
R3051 (G1)
|
| Quality Score |
191 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
118380588-118802423 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 118393714 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Aspartic acid
at position 37
(A37D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000118332
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000017576]
[ENSMUST00000069343]
[ENSMUST00000103023]
[ENSMUST00000106278]
[ENSMUST00000117731]
[ENSMUST00000120061]
[ENSMUST00000136551]
[ENSMUST00000154746]
|
| AlphaFold |
Q8BIF2 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000017576
AA Change: A154D
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000017576
Gene: ENSMUSG00000025576
AA Change: A154D
| 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 benign
Transcript: ENSMUST00000069343
|
| SMART Domains |
Protein: ENSMUSP00000069598
Gene: ENSMUSG00000025576
| 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: A154D
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000099312
Gene: ENSMUSG00000025576
AA Change: A154D
| 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: A154D
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000101885
Gene: ENSMUSG00000025576
AA Change: A154D
| 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: A154D
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000113636
Gene: ENSMUSG00000025576
AA Change: A154D
| 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: A154D
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000113987
Gene: ENSMUSG00000025576
AA Change: A154D
| 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: ENSMUST00000136551
AA Change: A154D
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000119255
Gene: ENSMUSG00000025576
AA Change: A154D
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
15 |
N/A |
INTRINSIC |
|
low complexity region
|
24 |
29 |
N/A |
INTRINSIC |
|
RRM
|
100 |
169 |
6.65e-20 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000154746
AA Change: A37D
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000118332
Gene: ENSMUSG00000025576
AA Change: A37D
| Domain | Start | End | E-Value | Type |
|---|
|
RRM
|
1 |
54 |
8.6e-5 |
SMART |
|
Pfam:Fox-1_C
|
90 |
142 |
5.5e-16 |
PFAM |
|
| Meta Mutation Damage Score |
0.8377 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 94.5%
|
| Validation Efficiency |
100% (32/32) |
| 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: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acsl1 |
G |
A |
8: 46,974,374 (GRCm39) |
V330I |
probably benign |
Het |
| Akap6 |
T |
C |
12: 52,933,816 (GRCm39) |
L436P |
probably damaging |
Het |
| Axin1 |
A |
G |
17: 26,409,099 (GRCm39) |
T700A |
probably benign |
Het |
| B4galt3 |
C |
A |
1: 171,101,613 (GRCm39) |
H196N |
probably damaging |
Het |
| Ccdc178 |
T |
A |
18: 22,268,188 (GRCm39) |
M100L |
probably benign |
Het |
| Ceacam20 |
T |
A |
7: 19,710,110 (GRCm39) |
V378E |
probably benign |
Het |
| Cwf19l2 |
G |
A |
9: 3,410,006 (GRCm39) |
R45H |
probably benign |
Het |
| Cyp2a5 |
A |
G |
7: 26,542,410 (GRCm39) |
I471V |
possibly damaging |
Het |
| Ddr2 |
T |
C |
1: 169,816,024 (GRCm39) |
K561R |
probably benign |
Het |
| Hivep2 |
C |
A |
10: 14,004,713 (GRCm39) |
T437K |
probably benign |
Het |
| Ltf |
A |
G |
9: 110,853,590 (GRCm39) |
D280G |
probably benign |
Het |
| Nlrc5 |
A |
G |
8: 95,203,343 (GRCm39) |
E481G |
probably benign |
Het |
| Or1e30 |
A |
G |
11: 73,678,060 (GRCm39) |
T99A |
probably benign |
Het |
| Pald1 |
G |
A |
10: 61,182,542 (GRCm39) |
Q412* |
probably null |
Het |
| Ppp4r3c2 |
G |
A |
X: 88,797,709 (GRCm39) |
V514I |
probably damaging |
Het |
| Ptprd |
A |
G |
4: 76,018,867 (GRCm39) |
Y649H |
probably damaging |
Het |
| R3hcc1l |
T |
G |
19: 42,551,064 (GRCm39) |
Y20* |
probably null |
Het |
| Rpa2 |
A |
G |
4: 132,502,437 (GRCm39) |
|
probably null |
Het |
| Ryr1 |
A |
T |
7: 28,752,515 (GRCm39) |
V3598E |
probably damaging |
Het |
| Slc6a7 |
G |
A |
18: 61,142,589 (GRCm39) |
T41M |
probably damaging |
Het |
| Tacc2 |
G |
A |
7: 130,227,226 (GRCm39) |
E1323K |
possibly damaging |
Het |
| Ten1 |
T |
C |
11: 116,096,556 (GRCm39) |
F70S |
possibly damaging |
Het |
| Terf2 |
A |
C |
8: 107,806,016 (GRCm39) |
L312R |
possibly damaging |
Het |
| Tktl1 |
A |
G |
X: 73,221,010 (GRCm39) |
T39A |
probably benign |
Het |
| Tmem51 |
A |
T |
4: 141,759,335 (GRCm39) |
Y138N |
probably damaging |
Het |
| Trp53bp2 |
T |
C |
1: 182,281,347 (GRCm39) |
F983L |
probably damaging |
Het |
| Trpm1 |
G |
A |
7: 63,918,849 (GRCm39) |
E730K |
probably damaging |
Het |
| Ubxn2a |
T |
A |
12: 4,941,322 (GRCm39) |
K95* |
probably null |
Het |
| Xpo6 |
T |
C |
7: 125,703,893 (GRCm39) |
N1086D |
probably damaging |
Het |
| Zfp345 |
T |
C |
2: 150,316,772 (GRCm39) |
N12D |
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 |
|
IGL01772:Rbfox3
|
APN |
11 |
118,387,797 (GRCm39) |
missense |
probably damaging |
0.98 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- ATGAAGGTGTGAGGCTGTCC -3'
(R):5'- CCAGTACAATCTCCTAGTGCTGG -3'
Sequencing Primer
(F):5'- AGGCTGTCCTCAGGGGC -3'
(R):5'- ACAGACTTCTGACACTGGGG -3'
|
| Posted On |
2015-02-05 |
Incidental Mutation