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 |
120671572-120675033 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 120674778 bp (GRCm39)
|
| 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]
[ENSMUST00000208737]
[ENSMUST00000172809]
|
| 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: 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: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1110038F14Rik |
G |
A |
15: 76,834,475 (GRCm39) |
V124I |
probably damaging |
Het |
| Adamts5 |
T |
C |
16: 85,660,021 (GRCm39) |
H757R |
probably damaging |
Het |
| Aen |
G |
A |
7: 78,557,050 (GRCm39) |
M299I |
probably damaging |
Het |
| Akap3 |
A |
T |
6: 126,842,842 (GRCm39) |
E487V |
possibly damaging |
Het |
| Bicd2 |
T |
C |
13: 49,531,792 (GRCm39) |
S271P |
probably damaging |
Het |
| Cfap206 |
C |
T |
4: 34,721,562 (GRCm39) |
S162N |
probably damaging |
Het |
| Cma1 |
A |
G |
14: 56,180,154 (GRCm39) |
S71P |
probably benign |
Het |
| Cspp1 |
T |
C |
1: 10,158,370 (GRCm39) |
Y494H |
probably damaging |
Het |
| Cyp39a1 |
A |
G |
17: 43,993,913 (GRCm39) |
K191R |
probably benign |
Het |
| Efr3a |
G |
A |
15: 65,724,927 (GRCm39) |
V507I |
probably benign |
Het |
| Fam178b |
C |
T |
1: 36,603,484 (GRCm39) |
R489Q |
possibly damaging |
Het |
| Kcnj4 |
A |
G |
15: 79,368,780 (GRCm39) |
L400P |
probably benign |
Het |
| Kif27 |
A |
G |
13: 58,491,907 (GRCm39) |
Y411H |
probably damaging |
Het |
| Mstn |
A |
T |
1: 53,101,156 (GRCm39) |
I78L |
possibly damaging |
Het |
| Nrap |
T |
C |
19: 56,317,516 (GRCm39) |
D1377G |
probably damaging |
Het |
| Pramel5 |
T |
G |
4: 143,997,842 (GRCm39) |
Y467S |
probably damaging |
Het |
| Prkg1 |
G |
A |
19: 30,546,743 (GRCm39) |
|
probably benign |
Het |
| Rbfox1 |
A |
C |
16: 7,124,307 (GRCm39) |
S219R |
possibly damaging |
Het |
| Rp1 |
T |
C |
1: 4,415,461 (GRCm39) |
I1884V |
probably damaging |
Het |
| Rptn |
T |
A |
3: 93,305,483 (GRCm39) |
Y939N |
possibly damaging |
Het |
| Sart1 |
A |
G |
19: 5,433,979 (GRCm39) |
V322A |
probably benign |
Het |
| Shank3 |
T |
C |
15: 89,433,619 (GRCm39) |
S1455P |
probably damaging |
Het |
| Smc5 |
T |
A |
19: 23,208,965 (GRCm39) |
R703W |
possibly damaging |
Het |
| Sptan1 |
G |
A |
2: 29,904,185 (GRCm39) |
|
probably null |
Het |
| Tecta |
T |
C |
9: 42,306,299 (GRCm39) |
D43G |
probably damaging |
Het |
| Tmem67 |
A |
T |
4: 12,054,750 (GRCm39) |
M685K |
probably benign |
Het |
| Trac |
A |
G |
14: 54,458,223 (GRCm39) |
T82A |
probably benign |
Het |
| Trank1 |
A |
G |
9: 111,195,861 (GRCm39) |
N1295S |
probably damaging |
Het |
| Ttc36 |
T |
C |
9: 44,712,887 (GRCm39) |
|
probably null |
Het |
| Utp18 |
A |
T |
11: 93,760,674 (GRCm39) |
S384T |
possibly damaging |
Het |
| Vmn1r64 |
C |
A |
7: 5,886,941 (GRCm39) |
A201S |
probably benign |
Het |
| Vmn2r26 |
A |
T |
6: 124,038,566 (GRCm39) |
I714F |
probably benign |
Het |
| Vps54 |
T |
A |
11: 21,262,268 (GRCm39) |
V626D |
probably damaging |
Het |
| Wapl |
T |
C |
14: 34,467,579 (GRCm39) |
|
probably benign |
Het |
| Yars2 |
C |
T |
16: 16,124,406 (GRCm39) |
R338* |
probably null |
Het |
|
| Other mutations in Rfng |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01073:Rfng
|
APN |
11 |
120,674,747 (GRCm39) |
missense |
probably benign |
0.01 |
|
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