Incidental Mutation 'IGL01070:Rfng'
| ID |
52221 |
| 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 # |
IGL01070
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
11 |
| Chromosomal Location |
120780746-120784207 bp(-) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 120783952 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Aspartic acid
at position 71
(N71D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000026156
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000026156]
[ENSMUST00000100134]
[ENSMUST00000116305]
[ENSMUST00000153678]
[ENSMUST00000172809]
[ENSMUST00000208737]
|
| AlphaFold |
O09009 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000026156
AA Change: N71D
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000026156
Gene: ENSMUSG00000025158
AA Change: N71D
| 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: 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 |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000208737
|
| 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: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1110038F14Rik |
G |
A |
15: 76,950,275 (GRCm38) |
V124I |
probably damaging |
Het |
| Adamts5 |
T |
C |
16: 85,863,133 (GRCm38) |
H757R |
probably damaging |
Het |
| Aen |
G |
A |
7: 78,907,302 (GRCm38) |
M299I |
probably damaging |
Het |
| Akap3 |
A |
T |
6: 126,865,879 (GRCm38) |
E487V |
possibly damaging |
Het |
| Bicd2 |
T |
C |
13: 49,378,316 (GRCm38) |
S271P |
probably damaging |
Het |
| Cfap206 |
C |
T |
4: 34,721,562 (GRCm38) |
S162N |
probably damaging |
Het |
| Cma1 |
A |
G |
14: 55,942,697 (GRCm38) |
S71P |
probably benign |
Het |
| Cspp1 |
T |
C |
1: 10,088,145 (GRCm38) |
Y494H |
probably damaging |
Het |
| Cyp39a1 |
A |
G |
17: 43,683,022 (GRCm38) |
K191R |
probably benign |
Het |
| Efr3a |
G |
A |
15: 65,853,078 (GRCm38) |
V507I |
probably benign |
Het |
| Fam178b |
C |
T |
1: 36,564,403 (GRCm38) |
R489Q |
possibly damaging |
Het |
| Kcnj4 |
A |
G |
15: 79,484,579 (GRCm38) |
L400P |
probably benign |
Het |
| Kif27 |
A |
G |
13: 58,344,093 (GRCm38) |
Y411H |
probably damaging |
Het |
| Mstn |
A |
T |
1: 53,061,997 (GRCm38) |
I78L |
possibly damaging |
Het |
| Nrap |
T |
C |
19: 56,329,084 (GRCm38) |
D1377G |
probably damaging |
Het |
| Pramel5 |
T |
G |
4: 144,271,272 (GRCm38) |
Y467S |
probably damaging |
Het |
| Prkg1 |
G |
A |
19: 30,569,343 (GRCm38) |
|
probably benign |
Het |
| Rbfox1 |
A |
C |
16: 7,306,443 (GRCm38) |
S219R |
possibly damaging |
Het |
| Rp1 |
T |
C |
1: 4,345,238 (GRCm38) |
I1884V |
probably damaging |
Het |
| Rptn |
T |
A |
3: 93,398,176 (GRCm38) |
Y939N |
possibly damaging |
Het |
| Sart1 |
A |
G |
19: 5,383,951 (GRCm38) |
V322A |
probably benign |
Het |
| Shank3 |
T |
C |
15: 89,549,416 (GRCm38) |
S1455P |
probably damaging |
Het |
| Smc5 |
T |
A |
19: 23,231,601 (GRCm38) |
R703W |
possibly damaging |
Het |
| Sptan1 |
G |
A |
2: 30,014,173 (GRCm38) |
|
probably null |
Het |
| Tecta |
T |
C |
9: 42,395,003 (GRCm38) |
D43G |
probably damaging |
Het |
| Tmem67 |
A |
T |
4: 12,054,750 (GRCm38) |
M685K |
probably benign |
Het |
| Trac |
A |
G |
14: 54,220,766 (GRCm38) |
T82A |
probably benign |
Het |
| Trank1 |
A |
G |
9: 111,366,793 (GRCm38) |
N1295S |
probably damaging |
Het |
| Ttc36 |
T |
C |
9: 44,801,590 (GRCm38) |
|
probably null |
Het |
| Utp18 |
A |
T |
11: 93,869,848 (GRCm38) |
S384T |
possibly damaging |
Het |
| Vmn1r64 |
C |
A |
7: 5,883,942 (GRCm38) |
A201S |
probably benign |
Het |
| Vmn2r26 |
A |
T |
6: 124,061,607 (GRCm38) |
I714F |
probably benign |
Het |
| Vps54 |
T |
A |
11: 21,312,268 (GRCm38) |
V626D |
probably damaging |
Het |
| Wapl |
T |
C |
14: 34,745,622 (GRCm38) |
|
probably benign |
Het |
| Yars2 |
C |
T |
16: 16,306,542 (GRCm38) |
R338* |
probably null |
Het |
|
| Other mutations in Rfng |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01073:Rfng
|
APN |
11 |
120,783,921 (GRCm38) |
missense |
probably benign |
0.01 |
|
IGL01748:Rfng
|
APN |
11 |
120,783,743 (GRCm38) |
missense |
probably benign |
0.00 |
|
R1533:Rfng
|
UTSW |
11 |
120,781,861 (GRCm38) |
nonsense |
probably null |
|
|
R2697:Rfng
|
UTSW |
11 |
120,784,039 (GRCm38) |
unclassified |
probably benign |
|
|
R4169:Rfng
|
UTSW |
11 |
120,783,946 (GRCm38) |
missense |
probably benign |
0.10 |
|
R4401:Rfng
|
UTSW |
11 |
120,782,480 (GRCm38) |
missense |
possibly damaging |
0.94 |
|
R4613:Rfng
|
UTSW |
11 |
120,782,650 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4738:Rfng
|
UTSW |
11 |
120,783,964 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5015:Rfng
|
UTSW |
11 |
120,783,050 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R5703:Rfng
|
UTSW |
11 |
120,782,016 (GRCm38) |
missense |
probably benign |
0.40 |
|
R6191:Rfng
|
UTSW |
11 |
120,782,690 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8345:Rfng
|
UTSW |
11 |
120,784,075 (GRCm38) |
missense |
unknown |
|
|
R8846:Rfng
|
UTSW |
11 |
120,784,146 (GRCm38) |
missense |
unknown |
|
|
R9316:Rfng
|
UTSW |
11 |
120,784,037 (GRCm38) |
missense |
unknown |
|
|
| Posted On |
2013-06-21 |
Incidental Mutation