Incidental Mutation 'R4401:Rfng'
ID |
326641 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Rfng
|
Ensembl Gene |
ENSMUSG00000025158 |
Gene Name |
RFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase |
Synonyms |
radical fringe |
MMRRC Submission |
041132-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R4401 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
11 |
Chromosomal Location |
120671572-120675033 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 120673306 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Glutamic Acid
at position 245
(V245E)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000026156
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000026156]
[ENSMUST00000100134]
[ENSMUST00000116305]
[ENSMUST00000208737]
[ENSMUST00000153678]
[ENSMUST00000172809]
|
AlphaFold |
O09009 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000026156
AA Change: V245E
PolyPhen 2
Score 0.941 (Sensitivity: 0.80; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000026156 Gene: ENSMUSG00000025158 AA Change: V245E
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: ENSMUST00000208737
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000153678
|
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 |
- 1x: 99.3%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 94.1%
|
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: 32 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcb1a |
A |
G |
5: 8,752,390 (GRCm39) |
I454V |
possibly damaging |
Het |
Acvr2a |
A |
G |
2: 48,789,714 (GRCm39) |
T486A |
probably benign |
Het |
Ap3b1 |
C |
A |
13: 94,554,607 (GRCm39) |
L248I |
probably damaging |
Het |
Atad2b |
T |
A |
12: 4,990,145 (GRCm39) |
C157S |
probably damaging |
Het |
Cage1 |
T |
A |
13: 38,207,078 (GRCm39) |
I256F |
probably damaging |
Het |
Cct2 |
A |
G |
10: 116,893,714 (GRCm39) |
I287T |
possibly damaging |
Het |
Cntn4 |
A |
G |
6: 106,466,625 (GRCm39) |
T176A |
possibly damaging |
Het |
Cracd |
G |
A |
5: 76,996,763 (GRCm39) |
V74I |
probably damaging |
Het |
Cyp2c54 |
T |
C |
19: 40,060,615 (GRCm39) |
N122S |
probably benign |
Het |
Cytip |
T |
C |
2: 58,023,947 (GRCm39) |
D291G |
probably benign |
Het |
Eef1d |
C |
T |
15: 75,774,769 (GRCm39) |
V213I |
probably benign |
Het |
Fnbp4 |
A |
G |
2: 90,577,102 (GRCm39) |
T145A |
possibly damaging |
Het |
Fras1 |
C |
A |
5: 96,790,479 (GRCm39) |
T951K |
probably damaging |
Het |
Gm11937 |
C |
T |
11: 99,500,901 (GRCm39) |
V39M |
probably damaging |
Het |
Gm6712 |
C |
T |
17: 17,538,366 (GRCm39) |
|
noncoding transcript |
Het |
Hira |
A |
G |
16: 18,744,470 (GRCm39) |
I352V |
probably damaging |
Het |
Homer3 |
G |
A |
8: 70,742,793 (GRCm39) |
|
probably null |
Het |
Lpcat2 |
T |
C |
8: 93,599,683 (GRCm39) |
V217A |
possibly damaging |
Het |
Mroh2a |
G |
T |
1: 88,182,657 (GRCm39) |
R1195L |
possibly damaging |
Het |
Or2a25 |
G |
T |
6: 42,889,260 (GRCm39) |
E268* |
probably null |
Het |
Or4k35 |
A |
G |
2: 111,100,178 (GRCm39) |
F178S |
probably damaging |
Het |
Or51f5 |
C |
T |
7: 102,424,006 (GRCm39) |
R92* |
probably null |
Het |
Pla2g1b |
T |
A |
5: 115,608,947 (GRCm39) |
Y47* |
probably null |
Het |
Rpf2 |
A |
G |
10: 40,112,124 (GRCm39) |
V104A |
possibly damaging |
Het |
Rps6kc1 |
G |
T |
1: 190,532,155 (GRCm39) |
H616N |
probably benign |
Het |
Slc66a1 |
T |
C |
4: 139,033,854 (GRCm39) |
I22V |
probably benign |
Het |
Slc9b2 |
T |
C |
3: 135,042,305 (GRCm39) |
V528A |
probably benign |
Het |
Srgap1 |
T |
C |
10: 121,640,826 (GRCm39) |
|
probably null |
Het |
Trrap |
A |
G |
5: 144,780,128 (GRCm39) |
T3240A |
possibly damaging |
Het |
Vmn2r68 |
TCC |
TC |
7: 84,870,758 (GRCm39) |
|
probably null |
Het |
Zfhx4 |
C |
A |
3: 5,468,405 (GRCm39) |
Y2854* |
probably null |
Het |
Zfp986 |
C |
T |
4: 145,625,513 (GRCm39) |
R58C |
probably benign |
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 |
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 |
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 |
|
|
Predicted Primers |
PCR Primer
(F):5'- TGAACAACTGGAGACCCCTTG -3'
(R):5'- CAGTGAAATTCTGGTTTGCTACTGG -3'
Sequencing Primer
(F):5'- CCTTGGGAGCTAGGCTGC -3'
(R):5'- CTGGGTTCTGCCTGAGC -3'
|
Posted On |
2015-07-07 |