Incidental Mutation 'IGL01070:Rbfox1'
ID |
52885 |
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 # |
IGL01070
|
Quality Score |
|
Status
|
|
Chromosome |
16 |
Chromosomal Location |
5703219-7229390 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to C
at 7124307 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Arginine
at position 219
(S219R)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000155321
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000056416]
[ENSMUST00000115841]
[ENSMUST00000229741]
[ENSMUST00000230658]
[ENSMUST00000231088]
[ENSMUST00000231194]
|
AlphaFold |
Q9JJ43 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000056416
AA Change: S219R
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000049970 Gene: ENSMUSG00000008658 AA Change: S219R
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 benign
Transcript: ENSMUST00000115841
AA Change: S219R
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000111507 Gene: ENSMUSG00000008658 AA Change: S219R
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 benign
Transcript: ENSMUST00000229741
AA Change: S239R
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000230658
AA Change: S219R
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000231088
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000231194
AA Change: S219R
PolyPhen 2
Score 0.777 (Sensitivity: 0.85; Specificity: 0.92)
|
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: 35 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1110038F14Rik |
G |
A |
15: 76,834,475 (GRCm39) |
V124I |
probably damaging |
Het |
Adamts5 |
T |
C |
16: 85,660,021 (GRCm39) |
H757R |
probably damaging |
Het |
Aen |
G |
A |
7: 78,557,050 (GRCm39) |
M299I |
probably damaging |
Het |
Akap3 |
A |
T |
6: 126,842,842 (GRCm39) |
E487V |
possibly damaging |
Het |
Bicd2 |
T |
C |
13: 49,531,792 (GRCm39) |
S271P |
probably damaging |
Het |
Cfap206 |
C |
T |
4: 34,721,562 (GRCm39) |
S162N |
probably damaging |
Het |
Cma1 |
A |
G |
14: 56,180,154 (GRCm39) |
S71P |
probably benign |
Het |
Cspp1 |
T |
C |
1: 10,158,370 (GRCm39) |
Y494H |
probably damaging |
Het |
Cyp39a1 |
A |
G |
17: 43,993,913 (GRCm39) |
K191R |
probably benign |
Het |
Efr3a |
G |
A |
15: 65,724,927 (GRCm39) |
V507I |
probably benign |
Het |
Fam178b |
C |
T |
1: 36,603,484 (GRCm39) |
R489Q |
possibly damaging |
Het |
Kcnj4 |
A |
G |
15: 79,368,780 (GRCm39) |
L400P |
probably benign |
Het |
Kif27 |
A |
G |
13: 58,491,907 (GRCm39) |
Y411H |
probably damaging |
Het |
Mstn |
A |
T |
1: 53,101,156 (GRCm39) |
I78L |
possibly damaging |
Het |
Nrap |
T |
C |
19: 56,317,516 (GRCm39) |
D1377G |
probably damaging |
Het |
Pramel5 |
T |
G |
4: 143,997,842 (GRCm39) |
Y467S |
probably damaging |
Het |
Prkg1 |
G |
A |
19: 30,546,743 (GRCm39) |
|
probably benign |
Het |
Rfng |
T |
C |
11: 120,674,778 (GRCm39) |
N71D |
probably damaging |
Het |
Rp1 |
T |
C |
1: 4,415,461 (GRCm39) |
I1884V |
probably damaging |
Het |
Rptn |
T |
A |
3: 93,305,483 (GRCm39) |
Y939N |
possibly damaging |
Het |
Sart1 |
A |
G |
19: 5,433,979 (GRCm39) |
V322A |
probably benign |
Het |
Shank3 |
T |
C |
15: 89,433,619 (GRCm39) |
S1455P |
probably damaging |
Het |
Smc5 |
T |
A |
19: 23,208,965 (GRCm39) |
R703W |
possibly damaging |
Het |
Sptan1 |
G |
A |
2: 29,904,185 (GRCm39) |
|
probably null |
Het |
Tecta |
T |
C |
9: 42,306,299 (GRCm39) |
D43G |
probably damaging |
Het |
Tmem67 |
A |
T |
4: 12,054,750 (GRCm39) |
M685K |
probably benign |
Het |
Trac |
A |
G |
14: 54,458,223 (GRCm39) |
T82A |
probably benign |
Het |
Trank1 |
A |
G |
9: 111,195,861 (GRCm39) |
N1295S |
probably damaging |
Het |
Ttc36 |
T |
C |
9: 44,712,887 (GRCm39) |
|
probably null |
Het |
Utp18 |
A |
T |
11: 93,760,674 (GRCm39) |
S384T |
possibly damaging |
Het |
Vmn1r64 |
C |
A |
7: 5,886,941 (GRCm39) |
A201S |
probably benign |
Het |
Vmn2r26 |
A |
T |
6: 124,038,566 (GRCm39) |
I714F |
probably benign |
Het |
Vps54 |
T |
A |
11: 21,262,268 (GRCm39) |
V626D |
probably damaging |
Het |
Wapl |
T |
C |
14: 34,467,579 (GRCm39) |
|
probably benign |
Het |
Yars2 |
C |
T |
16: 16,124,406 (GRCm39) |
R338* |
probably null |
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 |
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 |
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 |
2013-06-21 |