Incidental Mutation 'IGL00423:Ranbp3'
| ID |
332380 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Ranbp3
|
| Ensembl Gene |
ENSMUSG00000002372 |
| Gene Name |
RAN binding protein 3 |
| Synonyms |
2610024N24Rik |
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.958)
|
| Stock # |
IGL00423
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
17 |
| Chromosomal Location |
56980294-57018764 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 57016238 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Asparagine
at position 336
(D336N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000002445
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000002445]
[ENSMUST00000067931]
[ENSMUST00000164907]
|
| AlphaFold |
Q9CT10 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000002445
AA Change: D336N
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000002445
Gene: ENSMUSG00000002372
AA Change: D336N
| 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 |
|
| Validation Efficiency |
|
| 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: 28 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acan |
A |
G |
7: 78,747,572 (GRCm39) |
E781G |
probably benign |
Het |
| Acp7 |
T |
C |
7: 28,314,122 (GRCm39) |
T358A |
possibly damaging |
Het |
| Adamtsl2 |
C |
A |
2: 26,975,100 (GRCm39) |
T199K |
probably damaging |
Het |
| Ap4e1 |
T |
A |
2: 126,870,209 (GRCm39) |
S179T |
probably damaging |
Het |
| BC048671 |
A |
G |
6: 90,280,200 (GRCm39) |
T39A |
probably benign |
Het |
| Cfap20dc |
G |
A |
14: 8,473,370 (GRCm38) |
P600S |
possibly damaging |
Het |
| Cnr1 |
G |
A |
4: 33,944,116 (GRCm39) |
S168N |
probably damaging |
Het |
| Cp |
T |
C |
3: 20,039,826 (GRCm39) |
V881A |
possibly damaging |
Het |
| Cyp4x1 |
T |
C |
4: 114,979,145 (GRCm39) |
T151A |
probably benign |
Het |
| Drd2 |
T |
C |
9: 49,307,058 (GRCm39) |
I48T |
probably damaging |
Het |
| Gemin5 |
A |
T |
11: 58,054,643 (GRCm39) |
I253N |
probably damaging |
Het |
| Herc3 |
T |
A |
6: 58,845,700 (GRCm39) |
I407K |
probably damaging |
Het |
| Ighmbp2 |
G |
T |
19: 3,318,704 (GRCm39) |
H457Q |
probably benign |
Het |
| Mboat1 |
A |
G |
13: 30,379,776 (GRCm39) |
|
probably benign |
Het |
| Myh2 |
T |
C |
11: 67,088,171 (GRCm39) |
V1929A |
probably benign |
Het |
| Nucb2 |
T |
A |
7: 116,121,066 (GRCm39) |
|
probably benign |
Het |
| Pcsk5 |
T |
C |
19: 17,619,923 (GRCm39) |
N383S |
probably benign |
Het |
| Pde1a |
A |
G |
2: 79,696,014 (GRCm39) |
L443P |
probably damaging |
Het |
| Prph2 |
A |
T |
17: 47,230,704 (GRCm39) |
N199I |
probably damaging |
Het |
| Rab27b |
A |
G |
18: 70,129,138 (GRCm39) |
|
probably null |
Het |
| Rangap1 |
T |
C |
15: 81,606,194 (GRCm39) |
D49G |
probably benign |
Het |
| Rasa3 |
G |
A |
8: 13,645,410 (GRCm39) |
|
probably benign |
Het |
| Serpina6 |
T |
A |
12: 103,618,162 (GRCm39) |
N217I |
probably damaging |
Het |
| Sorbs2 |
A |
G |
8: 46,252,743 (GRCm39) |
|
probably null |
Het |
| Spire1 |
A |
G |
18: 67,662,085 (GRCm39) |
V116A |
probably damaging |
Het |
| Tdrd1 |
T |
C |
19: 56,839,896 (GRCm39) |
V652A |
possibly damaging |
Het |
| Tmprss11g |
T |
C |
5: 86,640,050 (GRCm39) |
E193G |
probably benign |
Het |
| Zfp451 |
A |
T |
1: 33,816,660 (GRCm39) |
V213D |
probably benign |
Het |
|
| Other mutations in Ranbp3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
|
R0094:Ranbp3
|
UTSW |
17 |
57,016,338 (GRCm39) |
unclassified |
probably benign |
|
|
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 |
2015-08-05 |
Incidental Mutation