Incidental Mutation 'R7104:Rbfox1'
ID |
551082 |
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 |
045196-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R7104 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
16 |
Chromosomal Location |
5703219-7229390 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to A
at 7170867 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Serine
at position 276
(R276S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000049970
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000056416]
[ENSMUST00000115841]
[ENSMUST00000229741]
[ENSMUST00000230658]
[ENSMUST00000231031]
[ENSMUST00000231088]
[ENSMUST00000231194]
|
AlphaFold |
Q9JJ43 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000056416
AA Change: R276S
PolyPhen 2
Score 0.900 (Sensitivity: 0.82; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000049970 Gene: ENSMUSG00000008658 AA Change: R276S
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 |
possibly damaging
Transcript: ENSMUST00000115841
AA Change: R276S
PolyPhen 2
Score 0.900 (Sensitivity: 0.82; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000111507 Gene: ENSMUSG00000008658 AA Change: R276S
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: R296S
PolyPhen 2
Score 0.958 (Sensitivity: 0.78; Specificity: 0.95)
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000230658
AA Change: R276S
PolyPhen 2
Score 0.900 (Sensitivity: 0.82; Specificity: 0.94)
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000231031
AA Change: R12S
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000231088
AA Change: R238S
PolyPhen 2
Score 0.948 (Sensitivity: 0.79; Specificity: 0.95)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000231194
AA Change: R276S
PolyPhen 2
Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.0%
|
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: 56 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Agbl2 |
A |
G |
2: 90,627,891 (GRCm39) |
E232G |
probably damaging |
Het |
Atf7 |
A |
G |
15: 102,442,670 (GRCm39) |
S480P |
probably benign |
Het |
Cdk14 |
A |
G |
5: 5,245,325 (GRCm39) |
I166T |
possibly damaging |
Het |
Cdk5rap2 |
G |
T |
4: 70,267,393 (GRCm39) |
F358L |
probably benign |
Het |
Cplane1 |
T |
C |
15: 8,223,928 (GRCm39) |
L897P |
possibly damaging |
Het |
Cytip |
A |
G |
2: 58,049,986 (GRCm39) |
S28P |
probably benign |
Het |
Dennd5b |
C |
T |
6: 148,946,102 (GRCm39) |
R503Q |
probably damaging |
Het |
Dnajc10 |
T |
A |
2: 80,171,159 (GRCm39) |
C480S |
probably damaging |
Het |
Drc7 |
A |
G |
8: 95,785,711 (GRCm39) |
D189G |
probably damaging |
Het |
Engase |
G |
A |
11: 118,372,121 (GRCm39) |
V138M |
probably damaging |
Het |
Esyt3 |
C |
A |
9: 99,220,840 (GRCm39) |
R121L |
probably damaging |
Het |
Frem1 |
T |
G |
4: 82,858,918 (GRCm39) |
I1516L |
probably benign |
Het |
Gatad2b |
T |
A |
3: 90,258,724 (GRCm39) |
I249N |
probably damaging |
Het |
Grk6 |
T |
C |
13: 55,602,219 (GRCm39) |
S383P |
probably benign |
Het |
Hectd1 |
C |
T |
12: 51,874,134 (GRCm39) |
|
probably null |
Het |
Hipk2 |
A |
G |
6: 38,795,579 (GRCm39) |
L230P |
probably damaging |
Het |
Hivep1 |
A |
T |
13: 42,310,814 (GRCm39) |
Q1018L |
probably benign |
Het |
Itgad |
T |
C |
7: 127,797,550 (GRCm39) |
F927S |
probably benign |
Het |
Itgb3bp |
A |
G |
4: 99,702,335 (GRCm39) |
V3A |
probably damaging |
Het |
Kcnh7 |
G |
T |
2: 62,618,031 (GRCm39) |
A486D |
possibly damaging |
Het |
Krt1c |
T |
C |
15: 101,723,522 (GRCm39) |
T318A |
probably benign |
Het |
Ndrg1 |
A |
G |
15: 66,818,377 (GRCm39) |
F77S |
probably damaging |
Het |
Nlrp4c |
T |
A |
7: 6,068,708 (GRCm39) |
L203* |
probably null |
Het |
Nos1 |
T |
A |
5: 118,085,496 (GRCm39) |
C1275S |
probably damaging |
Het |
Or14a256 |
T |
C |
7: 86,264,900 (GRCm39) |
S318G |
probably null |
Het |
Or4a69 |
A |
G |
2: 89,313,458 (GRCm39) |
V7A |
possibly damaging |
Het |
Or5an9 |
T |
C |
19: 12,187,242 (GRCm39) |
I104T |
possibly damaging |
Het |
Or5d39 |
T |
C |
2: 87,979,716 (GRCm39) |
T216A |
possibly damaging |
Het |
Or5j3 |
T |
A |
2: 86,128,564 (GRCm39) |
S135T |
probably benign |
Het |
Or8b12b |
A |
T |
9: 37,684,437 (GRCm39) |
N161Y |
possibly damaging |
Het |
Pip4k2b |
T |
C |
11: 97,623,542 (GRCm39) |
M67V |
possibly damaging |
Het |
Polq |
C |
A |
16: 36,909,715 (GRCm39) |
Y2366* |
probably null |
Het |
Prg3 |
T |
C |
2: 84,819,097 (GRCm39) |
S8P |
probably benign |
Het |
Prl7c1 |
A |
T |
13: 27,962,952 (GRCm39) |
L17* |
probably null |
Het |
Prl8a8 |
A |
T |
13: 27,695,479 (GRCm39) |
S51R |
probably damaging |
Het |
Pttg1 |
G |
C |
11: 43,311,976 (GRCm39) |
P160A |
probably benign |
Het |
Rnase2a |
T |
G |
14: 51,492,988 (GRCm39) |
M126L |
probably benign |
Het |
Secisbp2 |
A |
T |
13: 51,810,943 (GRCm39) |
K202* |
probably null |
Het |
Sema6c |
A |
G |
3: 95,076,156 (GRCm39) |
H236R |
possibly damaging |
Het |
Septin12 |
A |
G |
16: 4,809,857 (GRCm39) |
L181P |
probably damaging |
Het |
Shc3 |
A |
T |
13: 51,585,241 (GRCm39) |
V458D |
possibly damaging |
Het |
Tecta |
A |
G |
9: 42,278,239 (GRCm39) |
Y1090H |
probably benign |
Het |
Thsd7a |
A |
T |
6: 12,379,429 (GRCm39) |
N998K |
|
Het |
Tmem131l |
A |
T |
3: 83,826,766 (GRCm39) |
S1184T |
possibly damaging |
Het |
Tnfsf15 |
T |
C |
4: 63,647,887 (GRCm39) |
D251G |
probably damaging |
Het |
Ttyh3 |
T |
C |
5: 140,615,540 (GRCm39) |
E348G |
probably benign |
Het |
Unc5c |
T |
C |
3: 141,439,665 (GRCm39) |
L186P |
probably damaging |
Het |
Vmn2r37 |
A |
T |
7: 9,219,045 (GRCm39) |
N446K |
probably damaging |
Het |
Vmn2r63 |
T |
C |
7: 42,577,959 (GRCm39) |
D193G |
possibly damaging |
Het |
Vmn2r85 |
A |
T |
10: 130,262,376 (GRCm39) |
M121K |
probably benign |
Het |
Vmn2r88 |
A |
G |
14: 51,651,253 (GRCm39) |
D189G |
|
Het |
Vwc2l |
C |
A |
1: 70,768,252 (GRCm39) |
C105* |
probably null |
Het |
Wdr72 |
T |
A |
9: 74,055,597 (GRCm39) |
D275E |
probably damaging |
Het |
Zfhx4 |
A |
T |
3: 5,467,549 (GRCm39) |
D2594V |
probably damaging |
Het |
Zfp174 |
C |
T |
16: 3,672,269 (GRCm39) |
H273Y |
probably benign |
Het |
Zwilch |
A |
G |
9: 64,068,658 (GRCm39) |
S203P |
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 |
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 |
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'- CTGTTTCAGGTGTGCAGCAC -3'
(R):5'- TTCAGGTAGGGTGGTCAAGAC -3'
Sequencing Primer
(F):5'- CCATCTTGCTAATAGAGAGTAGGCTG -3'
(R):5'- TCAAGACCATCATGCGTTGG -3'
|
Posted On |
2019-05-15 |