Incidental Mutation 'IGL01748:Rfng'
| ID |
153076 |
| 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 # |
IGL01748
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
11 |
| Chromosomal Location |
120671572-120675033 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 120674569 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Threonine
at position 104
(M104T)
|
| 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: M104T
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000026156
Gene: ENSMUSG00000025158
AA Change: M104T
| 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: 24 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrb1 |
T |
C |
15: 74,420,206 (GRCm39) |
|
probably benign |
Het |
| Asb1 |
G |
A |
1: 91,480,008 (GRCm39) |
V236I |
probably damaging |
Het |
| Bod1l |
G |
A |
5: 41,974,304 (GRCm39) |
R2337C |
probably benign |
Het |
| Fermt3 |
A |
T |
19: 6,980,834 (GRCm39) |
|
probably null |
Het |
| Foxred2 |
T |
C |
15: 77,836,546 (GRCm39) |
D323G |
probably damaging |
Het |
| Fry |
A |
G |
5: 150,269,116 (GRCm39) |
|
probably benign |
Het |
| Galnt11 |
T |
A |
5: 25,452,513 (GRCm39) |
Y8* |
probably null |
Het |
| Gm42688 |
T |
A |
6: 83,080,001 (GRCm39) |
S275T |
possibly damaging |
Het |
| Grip2 |
C |
T |
6: 91,741,724 (GRCm39) |
G934R |
probably damaging |
Het |
| Igkv1-122 |
G |
T |
6: 67,994,456 (GRCm39) |
V115F |
possibly damaging |
Het |
| Iglon5 |
C |
T |
7: 43,125,953 (GRCm39) |
|
probably benign |
Het |
| Nbl1 |
G |
T |
4: 138,810,921 (GRCm39) |
|
probably benign |
Het |
| Nup107 |
A |
G |
10: 117,593,179 (GRCm39) |
V833A |
probably benign |
Het |
| Or4k41 |
T |
C |
2: 111,279,875 (GRCm39) |
L130P |
probably damaging |
Het |
| Psg18 |
T |
C |
7: 18,087,476 (GRCm39) |
N61D |
probably benign |
Het |
| Scn10a |
A |
G |
9: 119,456,150 (GRCm39) |
F1224S |
probably damaging |
Het |
| Strn4 |
C |
T |
7: 16,572,227 (GRCm39) |
P647S |
probably damaging |
Het |
| Tbc1d2 |
A |
G |
4: 46,616,306 (GRCm39) |
V474A |
probably damaging |
Het |
| Trav13n-4 |
A |
T |
14: 53,601,470 (GRCm39) |
T80S |
probably benign |
Het |
| Trrap |
A |
G |
5: 144,770,150 (GRCm39) |
E2757G |
probably damaging |
Het |
| Vmn1r43 |
G |
T |
6: 89,847,294 (GRCm39) |
T64N |
probably damaging |
Het |
| Vmn2r108 |
A |
T |
17: 20,683,476 (GRCm39) |
I576N |
probably benign |
Het |
| Vmn2r65 |
A |
T |
7: 84,589,507 (GRCm39) |
I803N |
probably damaging |
Het |
| Zfp341 |
T |
C |
2: 154,470,847 (GRCm39) |
V288A |
probably 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 |
|
IGL01073:Rfng
|
APN |
11 |
120,674,747 (GRCm39) |
missense |
probably benign |
0.01 |
|
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 |
2014-02-04 |
Incidental Mutation