Incidental Mutation 'R0094:Ranbp3'
| ID |
16285 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ranbp3
|
| Ensembl Gene |
ENSMUSG00000002372 |
| Gene Name |
RAN binding protein 3 |
| Synonyms |
2610024N24Rik |
| MMRRC Submission |
038380-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.958)
|
| Stock # |
R0094 (G1)
|
| Quality Score |
|
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
56980294-57018764 bp(+) (GRCm39) |
| Type of Mutation |
unclassified |
| DNA Base Change (assembly) |
A to G
at 57016338 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000132817
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000002445]
[ENSMUST00000067931]
[ENSMUST00000164907]
|
| AlphaFold |
Q9CT10 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000002445
|
| SMART Domains |
Protein: ENSMUSP00000002445
Gene: ENSMUSG00000002372
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
275 |
287 |
N/A |
INTRINSIC |
|
RanBD
|
305 |
432 |
1.7e-12 |
SMART |
|
low complexity region
|
439 |
454 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000067931
|
| SMART Domains |
Protein: ENSMUSP00000064120
Gene: ENSMUSG00000054723
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
7 |
45 |
N/A |
INTRINSIC |
|
low complexity region
|
112 |
132 |
N/A |
INTRINSIC |
|
low complexity region
|
140 |
150 |
N/A |
INTRINSIC |
|
low complexity region
|
159 |
166 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000164907
|
| SMART Domains |
Protein: ENSMUSP00000132817
Gene: ENSMUSG00000054723
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
20 |
40 |
N/A |
INTRINSIC |
|
low complexity region
|
48 |
58 |
N/A |
INTRINSIC |
|
low complexity region
|
67 |
74 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 84.5%
- 3x: 75.9%
- 10x: 43.5%
- 20x: 12.9%
|
| Validation Efficiency |
86% (51/59) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein with a RanBD1 domain that is found in both the nucleus and cytoplasm. This protein plays a role in nuclear export as part of a heteromeric complex. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Jul 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700006A11Rik |
T |
C |
3: 124,203,427 (GRCm39) |
|
probably benign |
Het |
| 4930432E11Rik |
A |
G |
7: 29,260,236 (GRCm39) |
|
noncoding transcript |
Het |
| 4931429L15Rik |
T |
A |
9: 46,218,184 (GRCm39) |
T185S |
possibly damaging |
Het |
| Ahnak |
T |
A |
19: 8,991,257 (GRCm39) |
D4180E |
probably benign |
Het |
| Amotl1 |
A |
G |
9: 14,486,683 (GRCm39) |
S441P |
probably benign |
Het |
| Ankrd12 |
A |
T |
17: 66,277,171 (GRCm39) |
D2034E |
probably damaging |
Het |
| B3gnt2 |
T |
C |
11: 22,786,655 (GRCm39) |
R178G |
probably damaging |
Het |
| Colgalt1 |
T |
C |
8: 72,075,802 (GRCm39) |
V483A |
probably damaging |
Het |
| Ctsj |
A |
C |
13: 61,151,519 (GRCm39) |
|
probably null |
Het |
| Dap3 |
T |
A |
3: 88,834,335 (GRCm39) |
M294L |
probably benign |
Het |
| Ddias |
T |
C |
7: 92,509,108 (GRCm39) |
N269S |
possibly damaging |
Het |
| Dsg2 |
A |
T |
18: 20,724,910 (GRCm39) |
T439S |
probably benign |
Het |
| Eif2b1 |
A |
G |
5: 124,709,829 (GRCm39) |
F250L |
probably benign |
Het |
| Emc1 |
T |
A |
4: 139,087,796 (GRCm39) |
F100Y |
probably damaging |
Het |
| Hfm1 |
T |
A |
5: 107,065,344 (GRCm39) |
M112L |
probably benign |
Het |
| Lipg |
T |
C |
18: 75,078,917 (GRCm39) |
Y445C |
probably benign |
Het |
| Lrp1b |
T |
C |
2: 41,172,042 (GRCm39) |
|
probably benign |
Het |
| Ltbp2 |
A |
G |
12: 84,846,200 (GRCm39) |
Y897H |
probably damaging |
Het |
| Mfap5 |
G |
A |
6: 122,502,951 (GRCm39) |
V54I |
probably damaging |
Het |
| Mvd |
C |
T |
8: 123,166,442 (GRCm39) |
R65H |
probably benign |
Het |
| Mybpc2 |
A |
G |
7: 44,166,328 (GRCm39) |
Y221H |
probably damaging |
Het |
| Nbeal1 |
T |
A |
1: 60,344,468 (GRCm39) |
I2323N |
possibly damaging |
Het |
| Or14c40 |
A |
G |
7: 86,313,502 (GRCm39) |
S211G |
probably benign |
Het |
| Otol1 |
G |
A |
3: 69,926,016 (GRCm39) |
A64T |
probably benign |
Het |
| Pcdh8 |
G |
T |
14: 80,005,588 (GRCm39) |
D933E |
probably damaging |
Het |
| Pkd1 |
A |
G |
17: 24,800,250 (GRCm39) |
T3004A |
possibly damaging |
Het |
| Pkhd1 |
T |
A |
1: 20,279,470 (GRCm39) |
R2949S |
probably damaging |
Het |
| Ptpro |
T |
C |
6: 137,363,350 (GRCm39) |
Y495H |
probably benign |
Het |
| Rad54b |
T |
C |
4: 11,599,681 (GRCm39) |
V72A |
possibly damaging |
Het |
| Rpa2 |
T |
C |
4: 132,497,893 (GRCm39) |
S52P |
probably damaging |
Het |
| Serping1 |
T |
G |
2: 84,603,620 (GRCm39) |
R140S |
probably benign |
Het |
| Slc34a2 |
T |
C |
5: 53,221,310 (GRCm39) |
F252S |
probably benign |
Het |
| Spata45 |
A |
G |
1: 190,772,059 (GRCm39) |
|
probably benign |
Het |
| Sptan1 |
T |
C |
2: 29,896,635 (GRCm39) |
S1174P |
probably benign |
Het |
| Ss18l2 |
T |
C |
9: 121,541,699 (GRCm39) |
L64P |
probably benign |
Het |
| Tmem81 |
A |
G |
1: 132,435,787 (GRCm39) |
I198V |
probably benign |
Het |
| Trappc9 |
A |
T |
15: 72,894,929 (GRCm38) |
|
probably benign |
Het |
| Ubr3 |
C |
T |
2: 69,781,706 (GRCm39) |
T628I |
probably damaging |
Het |
| Zzef1 |
C |
T |
11: 72,708,791 (GRCm39) |
T130I |
probably benign |
Het |
|
| Other mutations in Ranbp3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00423:Ranbp3
|
APN |
17 |
57,016,238 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02801:Ranbp3
|
APN |
17 |
57,017,766 (GRCm39) |
missense |
probably benign |
|
|
IGL03004:Ranbp3
|
APN |
17 |
57,014,207 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Waif
|
UTSW |
17 |
56,984,208 (GRCm39) |
splice site |
probably null |
|
|
R0139:Ranbp3
|
UTSW |
17 |
57,016,272 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R0419:Ranbp3
|
UTSW |
17 |
57,015,219 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R0426:Ranbp3
|
UTSW |
17 |
57,014,169 (GRCm39) |
missense |
probably benign |
|
|
R0629:Ranbp3
|
UTSW |
17 |
57,015,200 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R0632:Ranbp3
|
UTSW |
17 |
57,009,896 (GRCm39) |
splice site |
probably benign |
|
|
R1495:Ranbp3
|
UTSW |
17 |
57,012,527 (GRCm39) |
missense |
probably benign |
0.03 |
|
R1525:Ranbp3
|
UTSW |
17 |
57,017,865 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
R2044:Ranbp3
|
UTSW |
17 |
56,980,367 (GRCm39) |
start gained |
probably benign |
|
|
R2093:Ranbp3
|
UTSW |
17 |
57,017,145 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4649:Ranbp3
|
UTSW |
17 |
57,003,640 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4780:Ranbp3
|
UTSW |
17 |
56,980,346 (GRCm39) |
start gained |
probably benign |
|
|
R5568:Ranbp3
|
UTSW |
17 |
57,008,543 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5642:Ranbp3
|
UTSW |
17 |
57,017,703 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5806:Ranbp3
|
UTSW |
17 |
57,017,717 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5875:Ranbp3
|
UTSW |
17 |
57,014,955 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6142:Ranbp3
|
UTSW |
17 |
56,993,018 (GRCm39) |
missense |
probably benign |
0.33 |
|
R6250:Ranbp3
|
UTSW |
17 |
56,984,208 (GRCm39) |
splice site |
probably null |
|
|
R6745:Ranbp3
|
UTSW |
17 |
57,016,308 (GRCm39) |
missense |
probably benign |
0.24 |
|
R7222:Ranbp3
|
UTSW |
17 |
57,017,211 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7571:Ranbp3
|
UTSW |
17 |
57,014,923 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7718:Ranbp3
|
UTSW |
17 |
57,003,718 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7744:Ranbp3
|
UTSW |
17 |
57,015,219 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R8504:Ranbp3
|
UTSW |
17 |
57,015,273 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8746:Ranbp3
|
UTSW |
17 |
57,009,826 (GRCm39) |
missense |
probably benign |
|
|
R9133:Ranbp3
|
UTSW |
17 |
57,003,791 (GRCm39) |
critical splice donor site |
probably null |
|
|
| Posted On |
2013-01-20 |
Incidental Mutation