Incidental Mutation 'R5115:Rbfox1'
| ID |
394165 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rbfox1
|
| Ensembl Gene |
ENSMUSG00000008658 |
| Gene Name |
RNA binding protein, fox-1 homolog (C. elegans) 1 |
| Synonyms |
A2bp1, A2bp, FOX1, HRNBP1 |
| MMRRC Submission |
042703-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R5115 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
16 |
| Chromosomal Location |
5703219-7229390 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 7227636 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Glycine
at position 405
(S405G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000155364
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000056416]
[ENSMUST00000115841]
[ENSMUST00000229741]
[ENSMUST00000231031]
[ENSMUST00000231088]
[ENSMUST00000231194]
|
| AlphaFold |
Q9JJ43 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000056416
AA Change: S384G
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000049970
Gene: ENSMUSG00000008658
AA Change: S384G
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
107 |
118 |
N/A |
INTRINSIC |
|
RRM
|
137 |
208 |
1.77e-24 |
SMART |
|
Pfam:Fox-1_C
|
272 |
362 |
1.7e-42 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000115841
AA Change: S384G
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000111507
Gene: ENSMUSG00000008658
AA Change: S384G
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
87 |
98 |
N/A |
INTRINSIC |
|
RRM
|
117 |
188 |
1.77e-24 |
SMART |
|
Pfam:Fox-1_C
|
252 |
341 |
2.5e-44 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000229741
AA Change: S405G
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000231031
AA Change: S121G
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000231088
AA Change: S346G
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000231194
AA Change: S384G
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| Meta Mutation Damage Score |
0.2007 |
| Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.0%
- 10x: 95.2%
- 20x: 88.2%
|
| Validation Efficiency |
100% (47/47) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The Fox-1 family of RNA-binding proteins is evolutionarily conserved, and regulates tissue-specific alternative splicing in metazoa. Fox-1 recognizes a (U)GCAUG stretch in regulated exons or in flanking introns. The protein binds to the C-terminus of ataxin-2 and may contribute to the restricted pathology of spinocerebellar ataxia type 2 (SCA2). Ataxin-2 is the product of the SCA2 gene which causes familial neurodegenerative diseases. Fox-1 and ataxin-2 are both localized in the trans-Golgi network. Several alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2011]
PHENOTYPE: Mice homozygous for a conditional allele activated in the brain exhibit reduced fertility, infrequent spontaneous seizures, increased susceptibility to kainic acid-induced seizures and lethality, and increased neuronal excitation. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acsl6 |
C |
T |
11: 54,231,324 (GRCm39) |
|
probably null |
Het |
| Asic1 |
C |
T |
15: 99,569,933 (GRCm39) |
L85F |
probably damaging |
Het |
| Atic |
G |
A |
1: 71,596,434 (GRCm39) |
|
probably null |
Het |
| Atp1b2 |
T |
C |
11: 69,494,299 (GRCm39) |
T65A |
probably damaging |
Het |
| C2cd6 |
T |
A |
1: 59,090,420 (GRCm39) |
I446L |
probably benign |
Het |
| Cep83 |
A |
G |
10: 94,604,751 (GRCm39) |
H488R |
probably benign |
Het |
| Cwc15 |
A |
G |
9: 14,419,192 (GRCm39) |
I163V |
probably benign |
Het |
| Cyp11b2 |
A |
T |
15: 74,727,277 (GRCm39) |
|
probably null |
Het |
| Fat2 |
A |
G |
11: 55,187,159 (GRCm39) |
V1229A |
probably damaging |
Het |
| Fbn1 |
T |
C |
2: 125,174,303 (GRCm39) |
D1851G |
probably damaging |
Het |
| Golga7 |
A |
T |
8: 23,735,986 (GRCm39) |
|
probably null |
Het |
| Gsdmc2 |
A |
T |
15: 63,699,617 (GRCm39) |
H270Q |
probably benign |
Het |
| Kdm4a |
G |
T |
4: 118,019,778 (GRCm39) |
P326Q |
possibly damaging |
Het |
| Kng1 |
G |
A |
16: 22,888,032 (GRCm39) |
R209H |
possibly damaging |
Het |
| Mfn1 |
T |
C |
3: 32,618,456 (GRCm39) |
|
probably null |
Het |
| Mllt6 |
G |
A |
11: 97,560,326 (GRCm39) |
S210N |
possibly damaging |
Het |
| Nlrc5 |
G |
A |
8: 95,203,447 (GRCm39) |
V516I |
possibly damaging |
Het |
| Nrbp1 |
T |
G |
5: 31,401,059 (GRCm39) |
Y96* |
probably null |
Het |
| Papola |
T |
C |
12: 105,793,219 (GRCm39) |
V513A |
probably benign |
Het |
| Pikfyve |
T |
C |
1: 65,263,276 (GRCm39) |
|
probably benign |
Het |
| Plin1 |
AGGCCACCAGGGGGTGGGC |
AGGC |
7: 79,379,692 (GRCm39) |
|
probably benign |
Het |
| Prkdc |
A |
G |
16: 15,608,444 (GRCm39) |
Q3082R |
probably benign |
Het |
| Recql |
T |
C |
6: 142,304,285 (GRCm39) |
|
probably benign |
Het |
| Serpina3c |
T |
C |
12: 104,113,651 (GRCm39) |
E365G |
probably damaging |
Het |
| Slc17a5 |
A |
G |
9: 78,484,394 (GRCm39) |
V122A |
probably benign |
Het |
| Sprr2b |
G |
T |
3: 92,224,862 (GRCm39) |
C36F |
unknown |
Het |
| Stk36 |
T |
C |
1: 74,674,986 (GRCm39) |
I1307T |
probably damaging |
Het |
| Tmc6 |
G |
A |
11: 117,666,014 (GRCm39) |
T300I |
probably damaging |
Het |
| Ttll9 |
C |
A |
2: 152,831,510 (GRCm39) |
|
probably benign |
Het |
| Vmn1r71 |
T |
A |
7: 10,481,885 (GRCm39) |
M202L |
probably benign |
Het |
| Zfp276 |
A |
G |
8: 123,991,716 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Rbfox1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00895:Rbfox1
|
APN |
16 |
7,187,698 (GRCm39) |
missense |
probably benign |
0.02 |
|
IGL01070:Rbfox1
|
APN |
16 |
7,124,307 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
IGL02633:Rbfox1
|
APN |
16 |
7,110,078 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL03037:Rbfox1
|
APN |
16 |
7,110,147 (GRCm39) |
splice site |
probably benign |
|
|
R0006:Rbfox1
|
UTSW |
16 |
7,148,284 (GRCm39) |
missense |
probably benign |
0.21 |
|
R0647:Rbfox1
|
UTSW |
16 |
7,042,248 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1439:Rbfox1
|
UTSW |
16 |
7,148,297 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
R1656:Rbfox1
|
UTSW |
16 |
7,124,333 (GRCm39) |
splice site |
probably benign |
|
|
R1677:Rbfox1
|
UTSW |
16 |
7,110,091 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R2155:Rbfox1
|
UTSW |
16 |
7,111,946 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R3236:Rbfox1
|
UTSW |
16 |
7,225,892 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R4952:Rbfox1
|
UTSW |
16 |
7,094,952 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4971:Rbfox1
|
UTSW |
16 |
7,111,952 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5784:Rbfox1
|
UTSW |
16 |
7,042,203 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R6380:Rbfox1
|
UTSW |
16 |
7,042,214 (GRCm39) |
nonsense |
probably null |
|
|
R7102:Rbfox1
|
UTSW |
16 |
7,187,698 (GRCm39) |
missense |
probably benign |
0.02 |
|
R7104:Rbfox1
|
UTSW |
16 |
7,170,867 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R7218:Rbfox1
|
UTSW |
16 |
7,111,947 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7348:Rbfox1
|
UTSW |
16 |
7,225,888 (GRCm39) |
nonsense |
probably null |
|
|
R7383:Rbfox1
|
UTSW |
16 |
6,887,899 (GRCm39) |
missense |
probably benign |
0.17 |
|
R7903:Rbfox1
|
UTSW |
16 |
7,042,375 (GRCm39) |
missense |
probably benign |
0.20 |
|
R8161:Rbfox1
|
UTSW |
16 |
7,094,892 (GRCm39) |
missense |
|
|
|
R8350:Rbfox1
|
UTSW |
16 |
7,094,954 (GRCm39) |
missense |
probably benign |
0.17 |
|
R8487:Rbfox1
|
UTSW |
16 |
7,042,319 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8836:Rbfox1
|
UTSW |
16 |
7,227,605 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9253:Rbfox1
|
UTSW |
16 |
7,111,973 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9516:Rbfox1
|
UTSW |
16 |
7,227,573 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9674:Rbfox1
|
UTSW |
16 |
7,170,885 (GRCm39) |
missense |
probably benign |
0.03 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACTTTCTGACAAGGTCTGGG -3'
(R):5'- TGATGTCCTACTGCATGTGATG -3'
Sequencing Primer
(F):5'- GGGGTGCCCTCTAATTTGC -3'
(R):5'- TGTGATGCAACACTCAGGC -3'
|
| Posted On |
2016-06-15 |
Incidental Mutation