Incidental Mutation 'IGL01073:Rfng'
| ID |
52230 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Rfng
|
| Ensembl Gene |
ENSMUSG00000025158 |
| Gene Name |
RFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase |
| Synonyms |
radical fringe |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL01073
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
11 |
| Chromosomal Location |
120671572-120675033 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 120674747 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Histidine
at position 81
(R81H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000026156
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000026156]
[ENSMUST00000100134]
[ENSMUST00000116305]
[ENSMUST00000153678]
[ENSMUST00000208737]
[ENSMUST00000172809]
|
| AlphaFold |
O09009 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000026156
AA Change: R81H
PolyPhen 2
Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000026156
Gene: ENSMUSG00000025158
AA Change: R81H
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
7 |
29 |
N/A |
INTRINSIC |
|
Pfam:Fringe
|
54 |
306 |
1.1e-116 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000100134
|
| SMART Domains |
Protein: ENSMUSP00000097711
Gene: ENSMUSG00000025156
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:RPN7
|
123 |
305 |
4.9e-78 |
PFAM |
|
PINT
|
356 |
439 |
5.77e-19 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000116305
|
| SMART Domains |
Protein: ENSMUSP00000112007
Gene: ENSMUSG00000025156
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:RPN7
|
123 |
305 |
1.3e-77 |
PFAM |
|
PINT
|
356 |
439 |
5.77e-19 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000123273
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000132422
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000144519
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000153678
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000156723
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000208737
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000172809
|
| SMART Domains |
Protein: ENSMUSP00000133855
Gene: ENSMUSG00000025156
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
4 |
24 |
N/A |
INTRINSIC |
|
low complexity region
|
37 |
49 |
N/A |
INTRINSIC |
|
Pfam:RPN7
|
162 |
344 |
8.8e-77 |
PFAM |
|
PINT
|
395 |
478 |
5.77e-19 |
SMART |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
PHENOTYPE: Mice homozygous for disruptions of this gene display a completely normal phenotype. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 27 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ankrd24 |
A |
G |
10: 81,475,156 (GRCm39) |
D110G |
possibly damaging |
Het |
| Ccnd3 |
A |
G |
17: 47,905,770 (GRCm39) |
T104A |
probably benign |
Het |
| Cntnap5b |
A |
T |
1: 100,003,755 (GRCm39) |
D245V |
probably benign |
Het |
| Cryab |
A |
G |
9: 50,665,855 (GRCm39) |
K82R |
probably damaging |
Het |
| Dnmt3b |
G |
A |
2: 153,512,762 (GRCm39) |
|
probably benign |
Het |
| Eif2b5 |
A |
T |
16: 20,319,046 (GRCm39) |
K99* |
probably null |
Het |
| Fam222b |
A |
G |
11: 78,045,314 (GRCm39) |
I292V |
probably damaging |
Het |
| Itpr1 |
A |
C |
6: 108,390,781 (GRCm39) |
N1560T |
probably benign |
Het |
| Lca5 |
T |
A |
9: 83,277,528 (GRCm39) |
K605N |
probably damaging |
Het |
| Letm1 |
T |
C |
5: 33,906,144 (GRCm39) |
D424G |
possibly damaging |
Het |
| Mtif3 |
C |
A |
5: 146,895,790 (GRCm39) |
R99L |
probably damaging |
Het |
| Nrxn3 |
A |
G |
12: 89,221,510 (GRCm39) |
M430V |
probably benign |
Het |
| Or4c121 |
A |
T |
2: 89,023,481 (GRCm39) |
L299Q |
possibly damaging |
Het |
| Pgap2 |
T |
A |
7: 101,875,661 (GRCm39) |
|
probably benign |
Het |
| Phf11c |
A |
T |
14: 59,626,797 (GRCm39) |
S129T |
probably benign |
Het |
| Ptpro |
A |
G |
6: 137,354,086 (GRCm39) |
N154S |
probably damaging |
Het |
| Rnf38 |
A |
G |
4: 44,137,645 (GRCm39) |
M280T |
probably benign |
Het |
| Rrp7a |
G |
A |
15: 83,002,282 (GRCm39) |
A185V |
probably benign |
Het |
| Slc22a2 |
C |
A |
17: 12,803,236 (GRCm39) |
F23L |
probably benign |
Het |
| Slc35f1 |
A |
G |
10: 52,898,056 (GRCm39) |
T156A |
probably benign |
Het |
| Slfn1 |
A |
T |
11: 83,012,163 (GRCm39) |
Y93F |
probably benign |
Het |
| Snrnp200 |
A |
T |
2: 127,056,832 (GRCm39) |
|
probably benign |
Het |
| Sos1 |
A |
G |
17: 80,730,176 (GRCm39) |
F701S |
probably damaging |
Het |
| Tmem203 |
A |
C |
2: 25,145,736 (GRCm39) |
I19L |
probably benign |
Het |
| Usp8 |
A |
T |
2: 126,560,034 (GRCm39) |
K18N |
probably damaging |
Het |
| Vmn2r115 |
G |
A |
17: 23,564,971 (GRCm39) |
R286K |
probably benign |
Het |
| Vmn2r23 |
A |
C |
6: 123,689,759 (GRCm39) |
T212P |
possibly damaging |
Het |
|
| Other mutations in Rfng |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01070:Rfng
|
APN |
11 |
120,674,778 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL01748:Rfng
|
APN |
11 |
120,674,569 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1533:Rfng
|
UTSW |
11 |
120,672,687 (GRCm39) |
nonsense |
probably null |
|
|
R2697:Rfng
|
UTSW |
11 |
120,674,865 (GRCm39) |
unclassified |
probably benign |
|
|
R4169:Rfng
|
UTSW |
11 |
120,674,772 (GRCm39) |
missense |
probably benign |
0.10 |
|
R4401:Rfng
|
UTSW |
11 |
120,673,306 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R4613:Rfng
|
UTSW |
11 |
120,673,476 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4738:Rfng
|
UTSW |
11 |
120,674,790 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5015:Rfng
|
UTSW |
11 |
120,673,876 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5703:Rfng
|
UTSW |
11 |
120,672,842 (GRCm39) |
missense |
probably benign |
0.40 |
|
R6191:Rfng
|
UTSW |
11 |
120,673,516 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8345:Rfng
|
UTSW |
11 |
120,674,901 (GRCm39) |
missense |
unknown |
|
|
R8846:Rfng
|
UTSW |
11 |
120,674,972 (GRCm39) |
missense |
unknown |
|
|
R9316:Rfng
|
UTSW |
11 |
120,674,863 (GRCm39) |
missense |
unknown |
|
|
| Posted On |
2013-06-21 |
Incidental Mutation