Incidental Mutation 'R2249:Rbfox3'
| ID |
240794 |
| 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 |
040249-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.149)
|
| Stock # |
R2249 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
118380588-118802423 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 118394564 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Leucine
at position 132
(F132L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000119255
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000017576]
[ENSMUST00000069343]
[ENSMUST00000103023]
[ENSMUST00000106278]
[ENSMUST00000117731]
[ENSMUST00000120061]
[ENSMUST00000136551]
[ENSMUST00000154746]
|
| AlphaFold |
Q8BIF2 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000017576
AA Change: F132L
PolyPhen 2
Score 0.430 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000017576
Gene: ENSMUSG00000025576
AA Change: F132L
| 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
AA Change: F132L
PolyPhen 2
Score 0.430 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000069598
Gene: ENSMUSG00000025576
AA Change: F132L
| 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 benign
Transcript: ENSMUST00000103023
AA Change: F132L
PolyPhen 2
Score 0.430 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000099312
Gene: ENSMUSG00000025576
AA Change: F132L
| 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 benign
Transcript: ENSMUST00000106278
AA Change: F132L
PolyPhen 2
Score 0.430 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000101885
Gene: ENSMUSG00000025576
AA Change: F132L
| 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 benign
Transcript: ENSMUST00000117731
AA Change: F132L
PolyPhen 2
Score 0.430 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000113636
Gene: ENSMUSG00000025576
AA Change: F132L
| 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 benign
Transcript: ENSMUST00000120061
AA Change: F132L
PolyPhen 2
Score 0.430 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000113987
Gene: ENSMUSG00000025576
AA Change: F132L
| 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: F132L
PolyPhen 2
Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000119255
Gene: ENSMUSG00000025576
AA Change: F132L
| 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 |
possibly damaging
Transcript: ENSMUST00000154746
AA Change: F15L
PolyPhen 2
Score 0.708 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000118332
Gene: ENSMUSG00000025576
AA Change: F15L
| 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 |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.2%
|
| 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: 52 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acvr1b |
G |
A |
15: 101,100,975 (GRCm39) |
R379Q |
probably null |
Het |
| Adam23 |
C |
T |
1: 63,574,335 (GRCm39) |
Q276* |
probably null |
Het |
| Apob |
A |
T |
12: 8,057,499 (GRCm39) |
S1961C |
probably damaging |
Het |
| Atxn7l1 |
C |
T |
12: 33,408,839 (GRCm39) |
P334S |
probably damaging |
Het |
| Ccnb1 |
T |
C |
13: 100,917,827 (GRCm39) |
M258V |
possibly damaging |
Het |
| Cd34 |
A |
C |
1: 194,630,260 (GRCm39) |
T65P |
possibly damaging |
Het |
| Cog6 |
A |
G |
3: 52,907,900 (GRCm39) |
|
probably null |
Het |
| Cp |
T |
C |
3: 20,041,734 (GRCm39) |
M953T |
probably damaging |
Het |
| Cwc27 |
C |
T |
13: 104,768,130 (GRCm39) |
R455Q |
unknown |
Het |
| Dhx57 |
A |
T |
17: 80,588,663 (GRCm39) |
D63E |
probably damaging |
Het |
| Elapor1 |
A |
T |
3: 108,378,726 (GRCm39) |
Y409* |
probably null |
Het |
| Flt4 |
T |
A |
11: 49,536,786 (GRCm39) |
M1252K |
possibly damaging |
Het |
| Gfral |
C |
T |
9: 76,100,631 (GRCm39) |
C269Y |
probably damaging |
Het |
| Itih4 |
C |
T |
14: 30,621,351 (GRCm39) |
Q788* |
probably null |
Het |
| Kif18b |
A |
G |
11: 102,803,214 (GRCm39) |
S499P |
probably benign |
Het |
| Map1a |
G |
C |
2: 121,130,768 (GRCm39) |
R528P |
probably damaging |
Het |
| Map3k5 |
T |
C |
10: 20,003,443 (GRCm39) |
F1152L |
probably damaging |
Het |
| Marveld2 |
T |
C |
13: 100,748,599 (GRCm39) |
D160G |
probably benign |
Het |
| Mtcl2 |
A |
T |
2: 156,882,013 (GRCm39) |
C680S |
probably benign |
Het |
| Mug1 |
A |
T |
6: 121,847,469 (GRCm39) |
M616L |
probably benign |
Het |
| Ndst4 |
A |
T |
3: 125,231,823 (GRCm39) |
I131F |
probably benign |
Het |
| Neto1 |
G |
T |
18: 86,479,399 (GRCm39) |
A196S |
probably benign |
Het |
| Notum |
A |
G |
11: 120,545,237 (GRCm39) |
F441L |
probably benign |
Het |
| Nsmce4a |
A |
G |
7: 130,140,769 (GRCm39) |
I239T |
probably benign |
Het |
| Or51g1 |
A |
T |
7: 102,633,647 (GRCm39) |
N241K |
possibly damaging |
Het |
| Or52z14 |
T |
A |
7: 103,252,943 (GRCm39) |
D27E |
probably benign |
Het |
| Or5d35 |
A |
T |
2: 87,855,707 (GRCm39) |
I214F |
probably damaging |
Het |
| Or6s1 |
T |
A |
14: 51,307,870 (GRCm39) |
K327* |
probably null |
Het |
| Or6x1 |
A |
T |
9: 40,098,980 (GRCm39) |
T190S |
possibly damaging |
Het |
| Or8k40 |
A |
G |
2: 86,584,398 (GRCm39) |
M228T |
probably damaging |
Het |
| Pde4dip |
A |
T |
3: 97,700,841 (GRCm39) |
V221D |
probably damaging |
Het |
| Pkp1 |
T |
C |
1: 135,808,545 (GRCm39) |
Y474C |
probably damaging |
Het |
| Ptk6 |
A |
C |
2: 180,838,173 (GRCm39) |
H363Q |
probably benign |
Het |
| Rb1cc1 |
T |
C |
1: 6,342,948 (GRCm39) |
W187R |
probably damaging |
Het |
| Rcl1 |
A |
T |
19: 29,099,268 (GRCm39) |
I188F |
possibly damaging |
Het |
| Scfd1 |
T |
A |
12: 51,462,299 (GRCm39) |
S385T |
possibly damaging |
Het |
| Sema6d |
A |
G |
2: 124,501,508 (GRCm39) |
E483G |
possibly damaging |
Het |
| Semp2l2b |
T |
C |
10: 21,943,015 (GRCm39) |
I322V |
possibly damaging |
Het |
| Sipa1l1 |
T |
C |
12: 82,388,890 (GRCm39) |
V372A |
probably benign |
Het |
| Slc17a6 |
G |
A |
7: 51,317,654 (GRCm39) |
G429D |
probably damaging |
Het |
| Slc22a5 |
A |
G |
11: 53,774,532 (GRCm39) |
V151A |
possibly damaging |
Het |
| Spidr |
T |
C |
16: 15,936,787 (GRCm39) |
D106G |
probably damaging |
Het |
| Tekt3 |
A |
T |
11: 62,974,778 (GRCm39) |
T366S |
probably benign |
Het |
| Trpm3 |
T |
C |
19: 22,710,398 (GRCm39) |
M281T |
probably benign |
Het |
| Ttn |
A |
G |
2: 76,782,485 (GRCm39) |
V917A |
probably damaging |
Het |
| Tubgcp4 |
A |
T |
2: 121,014,110 (GRCm39) |
D221V |
possibly damaging |
Het |
| Ubr4 |
C |
T |
4: 139,176,232 (GRCm39) |
R3153W |
probably damaging |
Het |
| Vmn1r89 |
A |
C |
7: 12,954,187 (GRCm39) |
T308P |
possibly damaging |
Het |
| Vmn2r59 |
A |
G |
7: 41,708,326 (GRCm39) |
I27T |
probably benign |
Het |
| Vps13c |
T |
G |
9: 67,895,335 (GRCm39) |
|
probably null |
Het |
| Zfp142 |
A |
G |
1: 74,606,191 (GRCm39) |
V1793A |
probably damaging |
Het |
| Zfp472 |
T |
A |
17: 33,197,109 (GRCm39) |
C395S |
possibly damaging |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCCTGGCAGCTCAAAAGAGG -3'
(R):5'- ACGCATGCTCCGTAAGAAAG -3'
Sequencing Primer
(F):5'- GAAGCAGCCTGGCAGCAAC -3'
(R):5'- TGCTCCGTAAGAAAGACAAAAGC -3'
|
| Posted On |
2014-10-15 |
Incidental Mutation