Incidental Mutation 'R6745:Ranbp3'
| ID |
530554 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ranbp3
|
| Ensembl Gene |
ENSMUSG00000002372 |
| Gene Name |
RAN binding protein 3 |
| Synonyms |
2610024N24Rik |
| MMRRC Submission |
044862-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.958)
|
| Stock # |
R6745 (G1)
|
| Quality Score |
120.008 |
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
56980294-57018764 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 57016308 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 359
(D359G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000002445
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000002445]
[ENSMUST00000067931]
[ENSMUST00000164907]
|
| AlphaFold |
Q9CT10 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000002445
AA Change: D359G
PolyPhen 2
Score 0.238 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000002445
Gene: ENSMUSG00000002372
AA Change: D359G
| 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 |
|
| Meta Mutation Damage Score |
0.3155 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.1%
- 20x: 94.5%
|
| Validation Efficiency |
100% (43/43) |
| 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: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgb |
G |
T |
10: 10,265,941 (GRCm39) |
T1040K |
probably damaging |
Het |
| Adgrf3 |
A |
G |
5: 30,408,601 (GRCm39) |
V59A |
probably benign |
Het |
| Ankk1 |
G |
T |
9: 49,327,480 (GRCm39) |
H566Q |
probably benign |
Het |
| Avil |
A |
C |
10: 126,849,988 (GRCm39) |
D613A |
probably benign |
Het |
| Bbs9 |
A |
G |
9: 22,582,132 (GRCm39) |
N613S |
probably benign |
Het |
| Chd1 |
A |
G |
17: 17,607,429 (GRCm39) |
T326A |
probably benign |
Het |
| Clasp2 |
A |
T |
9: 113,704,338 (GRCm39) |
R558* |
probably null |
Het |
| Cmbl |
A |
G |
15: 31,589,933 (GRCm39) |
D221G |
possibly damaging |
Het |
| Col3a1 |
G |
T |
1: 45,377,782 (GRCm39) |
|
probably benign |
Het |
| Creb5 |
A |
T |
6: 53,581,517 (GRCm39) |
M172L |
probably benign |
Het |
| Crybg3 |
A |
G |
16: 59,372,607 (GRCm39) |
V2291A |
possibly damaging |
Het |
| Cyp2g1 |
T |
G |
7: 26,513,604 (GRCm39) |
V181G |
probably damaging |
Het |
| Dclk1 |
T |
A |
3: 55,385,229 (GRCm39) |
S40T |
probably damaging |
Het |
| Dnah10 |
G |
T |
5: 124,885,876 (GRCm39) |
M3053I |
probably damaging |
Het |
| Dnah12 |
T |
A |
14: 26,428,383 (GRCm39) |
I268K |
probably damaging |
Het |
| Dock2 |
C |
G |
11: 34,596,669 (GRCm39) |
D396H |
probably damaging |
Het |
| Dock2 |
T |
A |
11: 34,596,670 (GRCm39) |
K395N |
probably damaging |
Het |
| Gpbp1 |
G |
A |
13: 111,589,919 (GRCm39) |
R59C |
probably benign |
Het |
| Ifi47 |
T |
G |
11: 48,986,329 (GRCm39) |
I32S |
probably benign |
Het |
| Ighg3 |
A |
G |
12: 113,323,890 (GRCm39) |
V166A |
unknown |
Het |
| Katnip |
T |
C |
7: 125,369,822 (GRCm39) |
S137P |
probably benign |
Het |
| Kdm5d |
T |
A |
Y: 927,112 (GRCm39) |
C617S |
probably benign |
Homo |
| Kif20b |
T |
G |
19: 34,906,276 (GRCm39) |
S55A |
possibly damaging |
Het |
| Klhl1 |
C |
T |
14: 96,517,438 (GRCm39) |
|
probably null |
Het |
| Kndc1 |
C |
T |
7: 139,500,892 (GRCm39) |
T727I |
probably benign |
Het |
| Lrrk1 |
A |
T |
7: 65,922,749 (GRCm39) |
I298N |
probably damaging |
Het |
| Ly75 |
C |
A |
2: 60,138,523 (GRCm39) |
R1448L |
probably damaging |
Het |
| Mup4 |
C |
T |
4: 59,960,091 (GRCm39) |
V58M |
possibly damaging |
Het |
| Nr2c1 |
T |
C |
10: 94,026,526 (GRCm39) |
F467S |
probably damaging |
Het |
| Or14j9 |
T |
A |
17: 37,874,470 (GRCm39) |
H244L |
probably damaging |
Het |
| Pla2g4a |
G |
T |
1: 149,761,981 (GRCm39) |
Q151K |
probably benign |
Het |
| Pom121l2 |
A |
T |
13: 22,167,868 (GRCm39) |
Q713L |
probably benign |
Het |
| Pomgnt1 |
T |
A |
4: 116,011,080 (GRCm39) |
S210T |
probably damaging |
Het |
| Prb1a |
T |
C |
6: 132,186,383 (GRCm39) |
|
probably null |
Het |
| Pyroxd2 |
T |
C |
19: 42,735,799 (GRCm39) |
D101G |
probably damaging |
Het |
| Rgsl1 |
T |
A |
1: 153,698,063 (GRCm39) |
I531F |
probably benign |
Het |
| Serpina1b |
T |
C |
12: 103,696,614 (GRCm39) |
N265S |
possibly damaging |
Het |
| Slc51b |
T |
C |
9: 65,320,212 (GRCm39) |
E85G |
possibly damaging |
Het |
| Stk32c |
T |
A |
7: 138,702,809 (GRCm39) |
R195W |
probably damaging |
Het |
| Uggt2 |
T |
C |
14: 119,280,022 (GRCm39) |
T819A |
possibly damaging |
Het |
| Ugt1a9 |
A |
T |
1: 87,998,898 (GRCm39) |
E116V |
probably benign |
Het |
| Zswim5 |
C |
G |
4: 116,832,401 (GRCm39) |
P543A |
probably damaging |
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 |
|
|
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 |
|
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TAGACTGTCAGACACCCCAG -3'
(R):5'- AGATACTTGAGCAGGAACCCAG -3'
Sequencing Primer
(F):5'- CACTGCTAACTCTGAGCTTGAAGTG -3'
(R):5'- TTGAGCAGGAACCCAGTGTGAG -3'
|
| Posted On |
2018-08-01 |
Incidental Mutation