Incidental Mutation 'R3023:Fxr1'
| ID |
265746 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Fxr1
|
| Ensembl Gene |
ENSMUSG00000027680 |
| Gene Name |
FMR1 autosomal homolog 1 |
| Synonyms |
1110050J02Rik, 9530073J07Rik, Fxr1p, Fxr1h |
| MMRRC Submission |
040539-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R3023 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
3 |
| Chromosomal Location |
34074133-34124129 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 34118373 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Histidine
at position 503
(R503H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000143392
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000001620]
[ENSMUST00000011029]
[ENSMUST00000167354]
[ENSMUST00000197694]
[ENSMUST00000198051]
[ENSMUST00000200086]
[ENSMUST00000200392]
|
| AlphaFold |
Q61584 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000001620
AA Change: R532H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000001620
Gene: ENSMUSG00000027680
AA Change: R532H
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Agenet
|
2 |
55 |
4.4e-7 |
PFAM |
|
Pfam:Agenet
|
62 |
120 |
7.1e-10 |
PFAM |
|
KH
|
217 |
284 |
3.57e-4 |
SMART |
|
KH
|
286 |
356 |
1.22e-2 |
SMART |
|
low complexity region
|
404 |
421 |
N/A |
INTRINSIC |
|
Pfam:FXR_C1
|
489 |
564 |
1.9e-41 |
PFAM |
|
low complexity region
|
572 |
582 |
N/A |
INTRINSIC |
|
Pfam:FXR_C3
|
610 |
676 |
1.3e-29 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000011029
|
| SMART Domains |
Protein: ENSMUSP00000011029
Gene: ENSMUSG00000027679
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
4 |
23 |
N/A |
INTRINSIC |
|
DnaJ
|
61 |
101 |
1.31e-1 |
SMART |
|
low complexity region
|
106 |
124 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000167354
AA Change: R418H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000130216
Gene: ENSMUSG00000027680
AA Change: R418H
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Agenet
|
59 |
120 |
3.3e-14 |
PFAM |
|
KH
|
217 |
284 |
3.57e-4 |
SMART |
|
KH
|
286 |
356 |
1.22e-2 |
SMART |
|
Pfam:FXR1P_C
|
361 |
380 |
4.2e-9 |
PFAM |
|
Pfam:FXR1P_C
|
379 |
486 |
1.5e-41 |
PFAM |
|
low complexity region
|
502 |
510 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000197694
AA Change: R503H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000142441
Gene: ENSMUSG00000027680
AA Change: R503H
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Agenet
|
59 |
120 |
3.9e-14 |
PFAM |
|
KH
|
217 |
284 |
3.57e-4 |
SMART |
|
KH
|
286 |
356 |
1.22e-2 |
SMART |
|
Pfam:FXR1P_C
|
361 |
380 |
5e-9 |
PFAM |
|
Pfam:FXR1P_C
|
379 |
486 |
1.8e-41 |
PFAM |
|
low complexity region
|
502 |
510 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000198051
AA Change: R532H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000142847
Gene: ENSMUSG00000027680
AA Change: R532H
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Agenet
|
59 |
120 |
1.2e-11 |
PFAM |
|
KH
|
217 |
284 |
2.2e-6 |
SMART |
|
KH
|
286 |
356 |
7.5e-5 |
SMART |
|
Pfam:FXR1P_C
|
361 |
515 |
1.6e-64 |
PFAM |
|
low complexity region
|
531 |
539 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000200086
|
| SMART Domains |
Protein: ENSMUSP00000143562
Gene: ENSMUSG00000027680
| Domain | Start | End | E-Value | Type |
|---|
|
PDB:3O8V|A
|
2 |
40 |
1e-17 |
PDB |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000200392
AA Change: R503H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000143392
Gene: ENSMUSG00000027680
AA Change: R503H
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Agenet
|
59 |
120 |
3.3e-14 |
PFAM |
|
KH
|
217 |
284 |
3.57e-4 |
SMART |
|
KH
|
286 |
356 |
1.22e-2 |
SMART |
|
Pfam:FXR1P_C
|
361 |
380 |
4.2e-9 |
PFAM |
|
Pfam:FXR1P_C
|
379 |
486 |
1.5e-41 |
PFAM |
|
low complexity region
|
502 |
510 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 93.7%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is an RNA binding protein that interacts with the functionally-similar proteins FMR1 and FXR2. These proteins shuttle between the nucleus and cytoplasm and associate with polyribosomes, predominantly with the 60S ribosomal subunit. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous null mice display neonatal lethality with impaired muscle development. Mice homozygous for a hypomorphic allele display a reduced life span with impaired muscle development, growth retardation, and reduced grip strength. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 23 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A2m |
A |
T |
6: 121,646,531 (GRCm39) |
E1060D |
probably benign |
Het |
| Abca15 |
A |
T |
7: 119,982,002 (GRCm39) |
I1106F |
probably benign |
Het |
| Arl5a |
A |
G |
2: 52,306,209 (GRCm39) |
V41A |
probably benign |
Het |
| Atp8b5 |
A |
G |
4: 43,311,957 (GRCm39) |
D190G |
possibly damaging |
Het |
| Cc2d2a |
T |
A |
5: 43,842,593 (GRCm39) |
|
probably null |
Het |
| Ckap2 |
T |
C |
8: 22,665,877 (GRCm39) |
N390S |
possibly damaging |
Het |
| Dtx3l |
A |
G |
16: 35,752,806 (GRCm39) |
I600T |
probably benign |
Het |
| Epb41l1 |
A |
C |
2: 156,356,129 (GRCm39) |
E555A |
probably damaging |
Het |
| Igf1r |
A |
G |
7: 67,833,147 (GRCm39) |
N436D |
probably benign |
Het |
| Kif26b |
G |
A |
1: 178,692,433 (GRCm39) |
C11Y |
probably damaging |
Het |
| Or4a78 |
A |
G |
2: 89,497,990 (GRCm39) |
I80T |
possibly damaging |
Het |
| Osbpl6 |
A |
T |
2: 76,417,077 (GRCm39) |
I703F |
probably damaging |
Het |
| Plcd4 |
A |
G |
1: 74,587,351 (GRCm39) |
Y37C |
probably damaging |
Het |
| Plekhm3 |
CCTGCTGCTGCTGCTGCTGCTGCTGC |
CCTGCTGCTGCTGCTGCTGCTGC |
1: 64,976,940 (GRCm39) |
|
probably benign |
Het |
| Pwwp2b |
G |
A |
7: 138,836,110 (GRCm39) |
R517H |
probably damaging |
Het |
| Rp1 |
G |
A |
1: 4,422,898 (GRCm39) |
R61W |
probably damaging |
Het |
| Sdk1 |
C |
G |
5: 142,031,991 (GRCm39) |
T1022S |
probably benign |
Het |
| Slc12a7 |
T |
A |
13: 73,948,541 (GRCm39) |
S669T |
probably benign |
Het |
| Sstr3 |
G |
A |
15: 78,424,187 (GRCm39) |
R187W |
probably damaging |
Het |
| Tlr2 |
C |
T |
3: 83,745,178 (GRCm39) |
V302I |
probably benign |
Het |
| Trav7-6 |
A |
G |
14: 53,954,701 (GRCm39) |
K77R |
probably benign |
Het |
| Vmn2r18 |
T |
C |
5: 151,485,148 (GRCm39) |
N782S |
probably benign |
Het |
| Vmn2r78 |
G |
T |
7: 86,604,174 (GRCm39) |
S784I |
probably damaging |
Het |
|
| Other mutations in Fxr1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00714:Fxr1
|
APN |
3 |
34,101,776 (GRCm39) |
splice site |
probably benign |
|
|
IGL01598:Fxr1
|
APN |
3 |
34,118,381 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
Outer_limits
|
UTSW |
3 |
34,093,692 (GRCm39) |
missense |
probably benign |
0.30 |
|
pueblo
|
UTSW |
3 |
34,118,381 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
R4877_Fxr1_968
|
UTSW |
3 |
34,101,847 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1294:Fxr1
|
UTSW |
3 |
34,101,201 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2134:Fxr1
|
UTSW |
3 |
34,112,196 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2405:Fxr1
|
UTSW |
3 |
34,116,003 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3055:Fxr1
|
UTSW |
3 |
34,103,333 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3056:Fxr1
|
UTSW |
3 |
34,103,333 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4009:Fxr1
|
UTSW |
3 |
34,119,171 (GRCm39) |
missense |
probably benign |
0.31 |
|
R4010:Fxr1
|
UTSW |
3 |
34,119,171 (GRCm39) |
missense |
probably benign |
0.31 |
|
R4706:Fxr1
|
UTSW |
3 |
34,118,278 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4721:Fxr1
|
UTSW |
3 |
34,118,381 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
R4877:Fxr1
|
UTSW |
3 |
34,101,847 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5583:Fxr1
|
UTSW |
3 |
34,123,125 (GRCm39) |
missense |
probably benign |
0.18 |
|
R6280:Fxr1
|
UTSW |
3 |
34,100,401 (GRCm39) |
intron |
probably benign |
|
|
R6801:Fxr1
|
UTSW |
3 |
34,108,452 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R7203:Fxr1
|
UTSW |
3 |
34,100,689 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
R7422:Fxr1
|
UTSW |
3 |
34,103,369 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7523:Fxr1
|
UTSW |
3 |
34,093,692 (GRCm39) |
missense |
probably benign |
0.30 |
|
R7785:Fxr1
|
UTSW |
3 |
34,100,403 (GRCm39) |
missense |
|
|
|
R8195:Fxr1
|
UTSW |
3 |
34,101,878 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8250:Fxr1
|
UTSW |
3 |
34,101,178 (GRCm39) |
nonsense |
probably null |
|
|
R8809:Fxr1
|
UTSW |
3 |
34,108,430 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
R8839:Fxr1
|
UTSW |
3 |
34,100,831 (GRCm39) |
intron |
probably benign |
|
|
R9385:Fxr1
|
UTSW |
3 |
34,074,120 (GRCm39) |
unclassified |
probably benign |
|
|
R9613:Fxr1
|
UTSW |
3 |
34,100,352 (GRCm39) |
missense |
probably benign |
0.01 |
|
X0067:Fxr1
|
UTSW |
3 |
34,100,193 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
| Predicted Primers |
PCR Primer
(F):5'- CAGTAGATGAAGCATTCTTAACTGATG -3'
(R):5'- AGTGCCCAAGATAGCAGC -3'
Sequencing Primer
(F):5'- GAAGCATTCTTAACTGATGTCCTC -3'
(R):5'- CAGTCAGTCCATCCATCA -3'
|
| Posted On |
2015-02-05 |
Incidental Mutation