Incidental Mutation 'IGL02633:Rbfox1'
ID |
301395 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Rbfox1
|
Ensembl Gene |
ENSMUSG00000008658 |
Gene Name |
RNA binding protein, fox-1 homolog (C. elegans) 1 |
Synonyms |
A2bp1, A2bp, FOX1, HRNBP1 |
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
IGL02633
|
Quality Score |
|
Status
|
|
Chromosome |
16 |
Chromosomal Location |
5703219-7229390 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 7110078 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Arginine
at position 165
(S165R)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000111507
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000056416]
[ENSMUST00000115841]
[ENSMUST00000229741]
[ENSMUST00000230658]
[ENSMUST00000231088]
[ENSMUST00000231194]
|
AlphaFold |
Q9JJ43 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000056416
AA Change: S165R
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000049970 Gene: ENSMUSG00000008658 AA Change: S165R
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: S165R
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000111507 Gene: ENSMUSG00000008658 AA Change: S165R
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: S185R
PolyPhen 2
Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000230658
AA Change: S165R
PolyPhen 2
Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000231088
AA Change: S145R
PolyPhen 2
Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000231194
AA Change: S165R
PolyPhen 2
Score 0.909 (Sensitivity: 0.81; Specificity: 0.94)
|
Coding Region Coverage |
|
Validation Efficiency |
|
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: 37 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abitram |
T |
C |
4: 56,806,131 (GRCm39) |
V181A |
possibly damaging |
Het |
Aff4 |
T |
C |
11: 53,300,198 (GRCm39) |
|
probably benign |
Het |
Ap1g2 |
T |
C |
14: 55,338,104 (GRCm39) |
|
probably null |
Het |
Aspn |
A |
T |
13: 49,705,363 (GRCm39) |
Y75F |
possibly damaging |
Het |
Atm |
G |
A |
9: 53,359,453 (GRCm39) |
T2783I |
probably damaging |
Het |
Cacnb1 |
A |
T |
11: 97,913,199 (GRCm39) |
I18N |
probably damaging |
Het |
Casr |
T |
C |
16: 36,336,017 (GRCm39) |
I97M |
probably damaging |
Het |
Cnga2 |
T |
A |
X: 71,048,655 (GRCm39) |
|
probably benign |
Het |
Coasy |
T |
A |
11: 100,976,147 (GRCm39) |
L425Q |
probably damaging |
Het |
Cps1 |
A |
G |
1: 67,162,396 (GRCm39) |
T25A |
probably benign |
Het |
Dnah1 |
T |
C |
14: 31,006,772 (GRCm39) |
Y2181C |
probably benign |
Het |
Efna3 |
A |
C |
3: 89,222,749 (GRCm39) |
S230A |
probably damaging |
Het |
Eng |
A |
G |
2: 32,563,286 (GRCm39) |
I281V |
probably damaging |
Het |
Erlec1 |
T |
A |
11: 30,898,430 (GRCm39) |
R14* |
probably null |
Het |
Gbp9 |
C |
T |
5: 105,231,431 (GRCm39) |
|
probably benign |
Het |
Gzmg |
T |
C |
14: 56,394,160 (GRCm39) |
M245V |
probably damaging |
Het |
Kdm5a |
A |
G |
6: 120,341,680 (GRCm39) |
I36V |
probably damaging |
Het |
Krt87 |
A |
G |
15: 101,389,095 (GRCm39) |
V79A |
probably damaging |
Het |
Limd1 |
A |
T |
9: 123,308,987 (GRCm39) |
|
probably benign |
Het |
Lmo4 |
T |
C |
3: 143,899,683 (GRCm39) |
S155G |
probably benign |
Het |
Mrpl44 |
G |
A |
1: 79,753,862 (GRCm39) |
V5I |
probably benign |
Het |
Mrpl49 |
T |
C |
19: 6,104,931 (GRCm39) |
T146A |
possibly damaging |
Het |
Mrpl58 |
T |
C |
11: 115,301,457 (GRCm39) |
|
probably benign |
Het |
Nab1 |
C |
T |
1: 52,529,292 (GRCm39) |
V202M |
probably damaging |
Het |
Nav3 |
T |
A |
10: 109,527,997 (GRCm39) |
M2229L |
probably benign |
Het |
Notch2 |
C |
T |
3: 98,024,013 (GRCm39) |
|
probably benign |
Het |
Nub1 |
A |
G |
5: 24,897,931 (GRCm39) |
I106V |
probably benign |
Het |
Prom1 |
A |
T |
5: 44,172,117 (GRCm39) |
S595T |
probably benign |
Het |
Sipa1l2 |
G |
A |
8: 126,174,507 (GRCm39) |
T1257I |
probably damaging |
Het |
Smarcc2 |
T |
C |
10: 128,305,556 (GRCm39) |
S327P |
probably damaging |
Het |
Tdpoz1 |
T |
C |
3: 93,578,056 (GRCm39) |
M243V |
probably benign |
Het |
Ttn |
G |
T |
2: 76,549,289 (GRCm39) |
T23469K |
probably damaging |
Het |
Ube2u |
T |
C |
4: 100,339,971 (GRCm39) |
|
probably benign |
Het |
Umodl1 |
T |
C |
17: 31,208,462 (GRCm39) |
Y836H |
probably damaging |
Het |
Vmn2r45 |
A |
G |
7: 8,488,728 (GRCm39) |
Y101H |
probably benign |
Het |
Vps13a |
T |
A |
19: 16,697,772 (GRCm39) |
Q781L |
possibly damaging |
Het |
Vwce |
G |
A |
19: 10,625,858 (GRCm39) |
V457M |
probably damaging |
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 |
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 |
R5115:Rbfox1
|
UTSW |
16 |
7,227,636 (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 |
|
Posted On |
2015-04-16 |