Incidental Mutation 'R0026:Rbfox2'
| ID |
15082 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rbfox2
|
| Ensembl Gene |
ENSMUSG00000033565 |
| Gene Name |
RNA binding protein, fox-1 homolog (C. elegans) 2 |
| Synonyms |
Rbm9, 2810460A15Rik, Fxh, Fbm2 |
| MMRRC Submission |
038321-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.598)
|
| Stock # |
R0026 (G1)
|
| Quality Score |
|
|
Status
|
Validated
|
| Chromosome |
15 |
| Chromosomal Location |
76963190-77191204 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 76968357 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 435
(T435A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000048056
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000048145]
[ENSMUST00000111581]
[ENSMUST00000166610]
[ENSMUST00000171751]
[ENSMUST00000227314]
[ENSMUST00000228253]
[ENSMUST00000227930]
[ENSMUST00000227533]
[ENSMUST00000228087]
|
| AlphaFold |
Q8BP71 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000048145
AA Change: T435A
PolyPhen 2
Score 0.659 (Sensitivity: 0.86; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000048056
Gene: ENSMUSG00000033565
AA Change: T435A
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
22 |
N/A |
INTRINSIC |
|
low complexity region
|
91 |
107 |
N/A |
INTRINSIC |
|
low complexity region
|
139 |
150 |
N/A |
INTRINSIC |
|
low complexity region
|
156 |
178 |
N/A |
INTRINSIC |
|
RRM
|
181 |
252 |
1.77e-24 |
SMART |
|
Pfam:Fox-1_C
|
319 |
374 |
2.9e-18 |
PFAM |
|
low complexity region
|
375 |
390 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000111581
|
| SMART Domains |
Protein: ENSMUSP00000129372
Gene: ENSMUSG00000033565
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
23 |
39 |
N/A |
INTRINSIC |
|
low complexity region
|
71 |
82 |
N/A |
INTRINSIC |
|
low complexity region
|
88 |
110 |
N/A |
INTRINSIC |
|
RRM
|
113 |
184 |
1.77e-24 |
SMART |
|
Pfam:Fox-1_C
|
252 |
350 |
3.7e-43 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000166610
|
| SMART Domains |
Protein: ENSMUSP00000130673
Gene: ENSMUSG00000033565
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
23 |
39 |
N/A |
INTRINSIC |
|
low complexity region
|
71 |
82 |
N/A |
INTRINSIC |
|
low complexity region
|
88 |
110 |
N/A |
INTRINSIC |
|
RRM
|
113 |
184 |
1.77e-24 |
SMART |
|
Pfam:Fox-1_C
|
255 |
353 |
6.2e-41 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000171751
|
| SMART Domains |
Protein: ENSMUSP00000130739
Gene: ENSMUSG00000033565
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
22 |
N/A |
INTRINSIC |
|
low complexity region
|
91 |
107 |
N/A |
INTRINSIC |
|
low complexity region
|
139 |
150 |
N/A |
INTRINSIC |
|
low complexity region
|
156 |
178 |
N/A |
INTRINSIC |
|
RRM
|
181 |
252 |
1.77e-24 |
SMART |
|
Pfam:Fox-1_C
|
324 |
421 |
7e-47 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000181870
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000227314
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000227532
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000228253
AA Change: T47A
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000227930
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000227533
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000228087
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000230194
|
| Meta Mutation Damage Score |
0.0940 |
| Coding Region Coverage |
- 1x: 78.7%
- 3x: 68.7%
- 10x: 42.4%
- 20x: 22.6%
|
| Validation Efficiency |
96% (75/78) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is one of several human genes similar to the C. elegans gene Fox-1. This gene encodes an RNA binding protein that is thought to be a key regulator of alternative exon splicing in the nervous system and other cell types. The protein binds to a conserved UGCAUG element found downstream of many alternatively spliced exons and promotes inclusion of the alternative exon in mature transcripts. The protein also interacts with the estrogen receptor 1 transcription factor and regulates estrogen receptor 1 transcriptional activity. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a conditional allele activated in the brain exhibit normal spontaneous and kainic acid-induced seizures. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca16 |
C |
T |
7: 120,077,146 (GRCm39) |
|
probably benign |
Het |
| Acot10 |
G |
A |
15: 20,666,322 (GRCm39) |
L140F |
probably benign |
Het |
| Asph |
A |
C |
4: 9,601,361 (GRCm39) |
S129A |
probably damaging |
Het |
| Atrn |
T |
C |
2: 130,799,840 (GRCm39) |
Y406H |
probably damaging |
Het |
| B4galt3 |
C |
T |
1: 171,101,831 (GRCm39) |
|
probably benign |
Het |
| BC016579 |
T |
C |
16: 45,460,730 (GRCm39) |
T113A |
probably benign |
Het |
| Bmpr1b |
A |
G |
3: 141,576,494 (GRCm39) |
L113P |
probably benign |
Het |
| Casq1 |
T |
C |
1: 172,046,967 (GRCm39) |
|
probably benign |
Het |
| Ccdc187 |
T |
C |
2: 26,171,365 (GRCm39) |
D371G |
probably benign |
Het |
| Clstn1 |
G |
A |
4: 149,719,253 (GRCm39) |
V361M |
probably damaging |
Het |
| Cyp4b1 |
C |
T |
4: 115,504,718 (GRCm39) |
G56D |
possibly damaging |
Het |
| Dock5 |
C |
A |
14: 68,083,530 (GRCm39) |
E126D |
probably benign |
Het |
| Exph5 |
A |
T |
9: 53,287,779 (GRCm39) |
D1620V |
probably benign |
Het |
| Fancd2os |
G |
T |
6: 113,574,652 (GRCm39) |
T118N |
probably damaging |
Het |
| Fli1 |
A |
G |
9: 32,387,880 (GRCm39) |
Y37H |
probably damaging |
Het |
| Gm17521 |
G |
A |
X: 121,939,239 (GRCm39) |
S43L |
probably benign |
Het |
| Gnb3 |
A |
G |
6: 124,814,380 (GRCm39) |
V135A |
probably benign |
Het |
| Ibtk |
A |
G |
9: 85,572,356 (GRCm39) |
V1278A |
probably benign |
Het |
| Ighv1-58 |
G |
A |
12: 115,275,907 (GRCm39) |
T77I |
probably benign |
Het |
| Lgsn |
T |
A |
1: 31,242,524 (GRCm39) |
V202D |
probably damaging |
Het |
| Madd |
A |
G |
2: 91,006,053 (GRCm39) |
F381L |
possibly damaging |
Het |
| Ntf3 |
T |
A |
6: 126,078,768 (GRCm39) |
N246I |
probably damaging |
Het |
| Pds5b |
G |
A |
5: 150,673,295 (GRCm39) |
|
probably benign |
Het |
| Ppp3cb |
C |
T |
14: 20,581,836 (GRCm39) |
V60I |
probably benign |
Het |
| Prc1 |
T |
C |
7: 79,960,809 (GRCm39) |
|
probably benign |
Het |
| Prpf31 |
T |
A |
7: 3,642,667 (GRCm39) |
N413K |
probably benign |
Het |
| Rapgef5 |
T |
C |
12: 117,652,896 (GRCm39) |
S307P |
probably benign |
Het |
| Senp1 |
T |
C |
15: 97,974,549 (GRCm39) |
R88G |
probably damaging |
Het |
| Slc35b1 |
T |
C |
11: 95,281,468 (GRCm39) |
S294P |
probably benign |
Het |
| Slc44a5 |
G |
A |
3: 153,945,907 (GRCm39) |
|
probably benign |
Het |
| Spata31e2 |
T |
A |
1: 26,722,450 (GRCm39) |
D910V |
probably benign |
Het |
| Taf1d |
T |
A |
9: 15,219,944 (GRCm39) |
S64R |
probably damaging |
Het |
| Trim6 |
T |
A |
7: 103,875,016 (GRCm39) |
|
probably null |
Het |
| Ttn |
T |
C |
2: 76,599,534 (GRCm39) |
T19186A |
probably damaging |
Het |
| Uchl4 |
A |
T |
9: 64,142,653 (GRCm39) |
|
probably null |
Het |
| Usp32 |
T |
C |
11: 84,922,900 (GRCm39) |
S673G |
possibly damaging |
Het |
| Utrn |
T |
C |
10: 12,601,940 (GRCm39) |
|
probably benign |
Het |
| Vps13b |
T |
C |
15: 35,923,447 (GRCm39) |
I3774T |
possibly damaging |
Het |
| Vwa3a |
A |
G |
7: 120,379,434 (GRCm39) |
Q513R |
probably damaging |
Het |
| Yipf1 |
T |
A |
4: 107,202,357 (GRCm39) |
L240* |
probably null |
Het |
|
| Other mutations in Rbfox2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00990:Rbfox2
|
APN |
15 |
76,987,136 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0130:Rbfox2
|
UTSW |
15 |
76,976,057 (GRCm39) |
intron |
probably benign |
|
|
R0446:Rbfox2
|
UTSW |
15 |
76,983,455 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0731:Rbfox2
|
UTSW |
15 |
76,983,479 (GRCm39) |
missense |
probably benign |
0.21 |
|
R3013:Rbfox2
|
UTSW |
15 |
77,017,120 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3715:Rbfox2
|
UTSW |
15 |
76,983,451 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R4094:Rbfox2
|
UTSW |
15 |
77,016,925 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4543:Rbfox2
|
UTSW |
15 |
77,190,568 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4799:Rbfox2
|
UTSW |
15 |
76,976,018 (GRCm39) |
missense |
probably benign |
0.28 |
|
R6194:Rbfox2
|
UTSW |
15 |
76,968,357 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R7316:Rbfox2
|
UTSW |
15 |
77,016,929 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R7501:Rbfox2
|
UTSW |
15 |
76,989,834 (GRCm39) |
missense |
probably benign |
0.36 |
|
R7687:Rbfox2
|
UTSW |
15 |
77,190,694 (GRCm39) |
missense |
unknown |
|
|
R8030:Rbfox2
|
UTSW |
15 |
76,969,776 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8103:Rbfox2
|
UTSW |
15 |
76,983,654 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9093:Rbfox2
|
UTSW |
15 |
77,190,658 (GRCm39) |
missense |
probably benign |
|
|
RF027:Rbfox2
|
UTSW |
15 |
77,016,973 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
| Posted On |
2012-12-12 |
Incidental Mutation