Incidental Mutation 'R3405:Rbfox3'
| ID |
259340 |
| 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 |
040623-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.149)
|
| Stock # |
R3405 (G1)
|
| Quality Score |
213 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
118380588-118802423 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 118387283 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Leucine
at position 277
(Q277L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000113636
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000017576]
[ENSMUST00000069343]
[ENSMUST00000103023]
[ENSMUST00000106278]
[ENSMUST00000117731]
[ENSMUST00000120061]
[ENSMUST00000154746]
|
| AlphaFold |
Q8BIF2 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000017576
AA Change: Q277L
PolyPhen 2
Score 0.930 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000017576
Gene: ENSMUSG00000025576
AA Change: Q277L
| 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: Q246L
PolyPhen 2
Score 0.061 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000069598
Gene: ENSMUSG00000025576
AA Change: Q246L
| 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
|
| SMART Domains |
Protein: ENSMUSP00000099312
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 |
171 |
1.01e-24 |
SMART |
|
Pfam:Fox-1_C
|
207 |
298 |
4.2e-43 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000106278
|
| SMART Domains |
Protein: ENSMUSP00000101885
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 |
171 |
1.01e-24 |
SMART |
|
Pfam:Fox-1_C
|
207 |
298 |
4.2e-43 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000117731
AA Change: Q277L
PolyPhen 2
Score 0.930 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000113636
Gene: ENSMUSG00000025576
AA Change: Q277L
| 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
|
| SMART Domains |
Protein: ENSMUSP00000113987
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 |
171 |
1.01e-24 |
SMART |
|
Pfam:Fox-1_C
|
207 |
298 |
6.1e-43 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000154746
|
| SMART Domains |
Protein: ENSMUSP00000118332
Gene: ENSMUSG00000025576
| 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 |
0.0631 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 93.4%
|
| Validation Efficiency |
100% (53/53) |
| 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: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Alms1 |
C |
A |
6: 85,644,945 (GRCm39) |
|
probably benign |
Het |
| Bcorl1 |
T |
A |
X: 47,459,884 (GRCm39) |
M1139K |
probably benign |
Het |
| C2cd3 |
T |
C |
7: 100,039,373 (GRCm39) |
S191P |
probably benign |
Het |
| Cdc27 |
T |
C |
11: 104,398,026 (GRCm39) |
E778G |
probably damaging |
Het |
| Col3a1 |
G |
A |
1: 45,377,913 (GRCm39) |
|
probably benign |
Het |
| Cubn |
C |
T |
2: 13,338,319 (GRCm39) |
V2350I |
probably benign |
Het |
| Dhodh |
G |
A |
8: 110,330,107 (GRCm39) |
R86* |
probably null |
Het |
| Dnhd1 |
C |
T |
7: 105,343,968 (GRCm39) |
Q1771* |
probably null |
Het |
| Dpt |
A |
C |
1: 164,624,500 (GRCm39) |
E67A |
probably damaging |
Het |
| Eif2ak2 |
A |
G |
17: 79,166,068 (GRCm39) |
|
probably benign |
Het |
| Exo1 |
A |
G |
1: 175,733,536 (GRCm39) |
K787E |
possibly damaging |
Het |
| Fancm |
T |
C |
12: 65,122,546 (GRCm39) |
S23P |
probably benign |
Het |
| Fmn1 |
A |
G |
2: 113,194,693 (GRCm39) |
E131G |
unknown |
Het |
| Gm5612 |
A |
T |
9: 18,339,149 (GRCm39) |
|
probably benign |
Het |
| Gsdma |
T |
C |
11: 98,563,964 (GRCm39) |
|
probably benign |
Het |
| Hormad2 |
T |
G |
11: 4,374,302 (GRCm39) |
Q88P |
probably damaging |
Het |
| Immp2l |
T |
A |
12: 41,160,846 (GRCm39) |
L48* |
probably null |
Het |
| Kcne4 |
C |
T |
1: 78,795,688 (GRCm39) |
A112V |
possibly damaging |
Het |
| Lamb1 |
C |
T |
12: 31,337,528 (GRCm39) |
R372C |
probably damaging |
Het |
| Lrrc30 |
A |
G |
17: 67,939,175 (GRCm39) |
L135P |
probably damaging |
Het |
| Ltn1 |
A |
T |
16: 87,213,103 (GRCm39) |
V486D |
probably damaging |
Het |
| Mab21l3 |
C |
A |
3: 101,730,847 (GRCm39) |
V131F |
probably damaging |
Het |
| Map3k4 |
A |
T |
17: 12,475,668 (GRCm39) |
F809Y |
probably damaging |
Het |
| Mki67 |
T |
A |
7: 135,309,204 (GRCm39) |
T416S |
probably benign |
Het |
| Mlst8 |
A |
T |
17: 24,697,099 (GRCm39) |
M56K |
probably benign |
Het |
| Mmp9 |
A |
G |
2: 164,791,310 (GRCm39) |
Y160C |
probably damaging |
Het |
| Mslnl |
A |
G |
17: 25,965,155 (GRCm39) |
Y507C |
probably damaging |
Het |
| Myl12a |
A |
T |
17: 71,301,737 (GRCm39) |
M130K |
probably benign |
Het |
| Myrfl |
A |
G |
10: 116,658,770 (GRCm39) |
F396L |
probably damaging |
Het |
| Nalf2 |
A |
G |
X: 98,889,109 (GRCm39) |
I325V |
probably benign |
Het |
| Ncf2 |
A |
G |
1: 152,701,698 (GRCm39) |
|
probably benign |
Het |
| Nlrp9c |
T |
A |
7: 26,084,707 (GRCm39) |
I291F |
probably benign |
Het |
| Nrp1 |
T |
A |
8: 129,224,569 (GRCm39) |
Y777* |
probably null |
Het |
| Ogdh |
T |
C |
11: 6,299,462 (GRCm39) |
V776A |
probably damaging |
Het |
| Pcdh17 |
T |
A |
14: 84,684,062 (GRCm39) |
D176E |
probably damaging |
Het |
| Plg |
G |
T |
17: 12,622,096 (GRCm39) |
S472I |
possibly damaging |
Het |
| Pnlip |
A |
G |
19: 58,669,191 (GRCm39) |
T397A |
probably benign |
Het |
| Senp7 |
T |
A |
16: 56,008,640 (GRCm39) |
W1007R |
probably damaging |
Het |
| Stap2 |
A |
T |
17: 56,304,511 (GRCm39) |
W374R |
probably benign |
Het |
| Szt2 |
A |
G |
4: 118,251,217 (GRCm39) |
V297A |
probably benign |
Het |
| Thada |
A |
T |
17: 84,538,213 (GRCm39) |
|
probably benign |
Het |
| Ticrr |
G |
C |
7: 79,344,539 (GRCm39) |
S1468T |
probably benign |
Het |
| Uvssa |
G |
T |
5: 33,547,162 (GRCm39) |
G243C |
probably damaging |
Het |
| Vmn2r129 |
G |
T |
4: 156,686,692 (GRCm39) |
|
noncoding transcript |
Het |
| Vwa8 |
T |
A |
14: 79,401,660 (GRCm39) |
|
probably benign |
Het |
| Zfp609 |
A |
T |
9: 65,608,454 (GRCm39) |
M1142K |
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 |
|
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 |
|
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'- GATGCCATGGGTCTATGTGC -3'
(R):5'- CTCTACTGCTGAAGAGGACAG -3'
Sequencing Primer
(F):5'- GAAGGGCAGACGGACTTCTC -3'
(R):5'- CTGAAGAGGACAGCTGCCTG -3'
|
| Posted On |
2015-01-23 |
Incidental Mutation