Incidental Mutation 'R6380:Rbfox1'
| ID |
515284 |
| 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 |
044529-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R6380 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
16 |
| Chromosomal Location |
5703219-7229390 bp(+) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
C to T
at 7042214 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Stop codon
at position 23
(Q23*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000155321
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000056416]
[ENSMUST00000115841]
[ENSMUST00000229741]
[ENSMUST00000230658]
[ENSMUST00000231088]
[ENSMUST00000231194]
|
| AlphaFold |
Q9JJ43 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000056416
AA Change: Q23*
|
| SMART Domains |
Protein: ENSMUSP00000049970
Gene: ENSMUSG00000008658
AA Change: Q23*
| 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 null
Transcript: ENSMUST00000115841
AA Change: Q23*
|
| SMART Domains |
Protein: ENSMUSP00000111507
Gene: ENSMUSG00000008658
AA Change: Q23*
| 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 null
Transcript: ENSMUST00000229741
AA Change: Q43*
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000230658
AA Change: Q23*
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000231088
AA Change: Q3*
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000231194
AA Change: Q23*
|
| Meta Mutation Damage Score |
0.9755 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.1%
- 20x: 96.5%
|
| Validation Efficiency |
100% (51/51) |
| 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: 50 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930590J08Rik |
G |
A |
6: 91,900,118 (GRCm39) |
G424D |
probably damaging |
Het |
| Aco1 |
T |
C |
4: 40,185,028 (GRCm39) |
V566A |
probably benign |
Het |
| Adat1 |
G |
T |
8: 112,704,704 (GRCm39) |
T414K |
probably benign |
Het |
| Alox12e |
A |
G |
11: 70,211,927 (GRCm39) |
V194A |
probably benign |
Het |
| Anpep |
A |
G |
7: 79,491,644 (GRCm39) |
V119A |
probably benign |
Het |
| Atat1 |
C |
A |
17: 36,219,849 (GRCm39) |
|
probably null |
Het |
| Atp10a |
G |
A |
7: 58,469,432 (GRCm39) |
W1094* |
probably null |
Het |
| Bcl11b |
T |
C |
12: 107,969,360 (GRCm39) |
R15G |
probably benign |
Het |
| Bltp1 |
A |
G |
3: 37,087,456 (GRCm39) |
D4019G |
probably benign |
Het |
| Btnl1 |
A |
G |
17: 34,598,468 (GRCm39) |
E28G |
probably benign |
Het |
| Ccnd1 |
A |
G |
7: 144,493,306 (GRCm39) |
V42A |
probably benign |
Het |
| Cdyl2 |
T |
A |
8: 117,309,923 (GRCm39) |
K344N |
probably damaging |
Het |
| Cep68 |
A |
G |
11: 20,180,498 (GRCm39) |
M711T |
probably benign |
Het |
| Cyp2j7 |
A |
G |
4: 96,118,211 (GRCm39) |
|
probably null |
Het |
| Cyp3a25 |
A |
T |
5: 145,935,357 (GRCm39) |
D86E |
probably damaging |
Het |
| Dclk1 |
G |
T |
3: 55,154,615 (GRCm39) |
R15L |
probably damaging |
Het |
| Dpy19l1 |
T |
A |
9: 24,393,341 (GRCm39) |
K143* |
probably null |
Het |
| Duox2 |
A |
G |
2: 122,111,483 (GRCm39) |
V1405A |
probably benign |
Het |
| Filip1 |
T |
C |
9: 79,726,906 (GRCm39) |
E571G |
probably damaging |
Het |
| Gpat2 |
G |
C |
2: 127,273,838 (GRCm39) |
G294R |
possibly damaging |
Het |
| Jph1 |
T |
C |
1: 17,162,071 (GRCm39) |
N197S |
probably damaging |
Het |
| Kcnt2 |
T |
C |
1: 140,437,322 (GRCm39) |
L535S |
probably damaging |
Het |
| Lepr |
C |
A |
4: 101,622,151 (GRCm39) |
S361* |
probably null |
Het |
| Lfng |
T |
A |
5: 140,600,151 (GRCm39) |
|
probably null |
Het |
| Lpcat2 |
G |
A |
8: 93,613,209 (GRCm39) |
A250T |
probably benign |
Het |
| Mab21l4 |
G |
A |
1: 93,088,613 (GRCm39) |
|
probably null |
Het |
| Map3k4 |
A |
T |
17: 12,490,954 (GRCm39) |
M159K |
possibly damaging |
Het |
| Notch3 |
A |
T |
17: 32,363,533 (GRCm39) |
C1177S |
probably damaging |
Het |
| Olfml2b |
C |
T |
1: 170,496,800 (GRCm39) |
P477L |
probably benign |
Het |
| Or51a5 |
A |
T |
7: 102,771,136 (GRCm39) |
F281Y |
probably benign |
Het |
| Or5k16 |
T |
A |
16: 58,736,627 (GRCm39) |
I126L |
probably damaging |
Het |
| Or6c33 |
A |
T |
10: 129,853,782 (GRCm39) |
H184L |
probably benign |
Het |
| Pald1 |
G |
T |
10: 61,186,714 (GRCm39) |
F146L |
possibly damaging |
Het |
| Pcdhga1 |
A |
G |
18: 37,796,022 (GRCm39) |
D342G |
probably damaging |
Het |
| Plcb2 |
T |
C |
2: 118,545,949 (GRCm39) |
S579G |
probably damaging |
Het |
| Prdm16 |
A |
T |
4: 154,425,824 (GRCm39) |
S654T |
probably benign |
Het |
| Rab3gap2 |
C |
A |
1: 184,968,181 (GRCm39) |
L178I |
probably damaging |
Het |
| Slc14a2 |
T |
G |
18: 78,190,190 (GRCm39) |
T920P |
probably benign |
Het |
| Slc17a6 |
G |
A |
7: 51,317,211 (GRCm39) |
V411M |
probably benign |
Het |
| Stard6 |
G |
A |
18: 70,609,459 (GRCm39) |
V33I |
probably benign |
Het |
| Syce1 |
A |
T |
7: 140,358,978 (GRCm39) |
H178Q |
probably damaging |
Het |
| Syne2 |
T |
A |
12: 76,151,754 (GRCm39) |
F1872I |
probably damaging |
Het |
| Tor1aip1 |
T |
C |
1: 155,894,234 (GRCm39) |
E274G |
possibly damaging |
Het |
| Trpm1 |
A |
T |
7: 63,918,045 (GRCm39) |
T462S |
probably benign |
Het |
| Ugt3a1 |
C |
T |
15: 9,306,541 (GRCm39) |
A230V |
probably benign |
Het |
| Vmn1r178 |
A |
G |
7: 23,592,984 (GRCm39) |
T11A |
possibly damaging |
Het |
| Vmn2r69 |
A |
T |
7: 85,061,067 (GRCm39) |
N172K |
probably benign |
Het |
| Whrn |
G |
T |
4: 63,336,829 (GRCm39) |
P136T |
possibly damaging |
Het |
| Zfhx4 |
A |
G |
3: 5,478,170 (GRCm39) |
N3570S |
probably damaging |
Het |
| Zfp689 |
A |
G |
7: 127,043,968 (GRCm39) |
S221P |
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 |
|
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'- CACCATTTGCTCATAGTGTGTGG -3'
(R):5'- GGACATAGCATCCACTTACTGTG -3'
Sequencing Primer
(F):5'- GTGAGGCTTGGCTGAGAAGC -3'
(R):5'- CACTTACTGTGGCGGTGC -3'
|
| Posted On |
2018-05-04 |
Incidental Mutation