Incidental Mutation 'R6718:Ranbp10'
| ID |
529462 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ranbp10
|
| Ensembl Gene |
ENSMUSG00000037415 |
| Gene Name |
RAN binding protein 10 |
| Synonyms |
4432417N03Rik |
| MMRRC Submission |
044836-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6718 (G1)
|
| Quality Score |
159.009 |
|
Status
|
Not validated
|
| Chromosome |
8 |
| Chromosomal Location |
106494940-106553982 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 106501260 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 330
(V330A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000040045
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000041400]
|
| AlphaFold |
Q6VN19 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000041400
AA Change: V330A
PolyPhen 2
Score 0.622 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000040045
Gene: ENSMUSG00000037415
AA Change: V330A
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
44 |
59 |
N/A |
INTRINSIC |
|
SPRY
|
128 |
249 |
5.47e-44 |
SMART |
|
LisH
|
281 |
313 |
1.63e-2 |
SMART |
|
CTLH
|
319 |
376 |
4.19e-14 |
SMART |
|
low complexity region
|
437 |
464 |
N/A |
INTRINSIC |
|
CRA
|
534 |
636 |
2.04e-22 |
SMART |
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.2%
- 20x: 95.3%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] RAN is a small GTPase involved in the assembly of microtubules to form mitotic spindles. The protein encoded by this gene is a cytoplasmic guanine nucleotide exchange factor (GEF) that binds beta-tubulin and has GEF activity toward RAN. The encoded protein plays a role in the formation of noncentrosomal microtubules. In addition, this protein may be involved in the regulation of D(1) receptor signaling by protein kinase C delta and protein kinase C gamma. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2016]
PHENOTYPE: Mice homozygous for a gene trap allele exhibit slight defects in erythrocyte number and volume, decreased platelet aggregattion and increased bleeding time associated with impaired platelet dense granule release. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 21 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Afg3l2 |
G |
A |
18: 67,554,346 (GRCm39) |
T452I |
probably damaging |
Het |
| Asb8 |
A |
G |
15: 98,034,015 (GRCm39) |
I180T |
probably benign |
Het |
| Cdh18 |
A |
G |
15: 23,226,835 (GRCm39) |
T45A |
probably benign |
Het |
| Col12a1 |
T |
A |
9: 79,606,887 (GRCm39) |
Y512F |
probably damaging |
Het |
| Col6a1 |
A |
G |
10: 76,560,884 (GRCm39) |
F38S |
probably damaging |
Het |
| Hoxc5 |
A |
G |
15: 102,922,698 (GRCm39) |
|
probably null |
Het |
| Kmt2d |
TATGCTGCTG |
TATGCTGCTGATGCTGCTG |
15: 98,747,467 (GRCm39) |
|
probably benign |
Het |
| Kmt2d |
C |
T |
15: 98,748,420 (GRCm39) |
|
probably benign |
Het |
| Lrp2 |
G |
T |
2: 69,314,124 (GRCm39) |
H2202Q |
probably benign |
Het |
| Maf |
C |
A |
8: 116,433,539 (GRCm39) |
V22F |
unknown |
Het |
| Mrgpra3 |
C |
T |
7: 47,239,444 (GRCm39) |
V161M |
probably benign |
Het |
| Or7g33 |
G |
T |
9: 19,448,495 (GRCm39) |
H244N |
probably damaging |
Het |
| Otx1 |
T |
C |
11: 21,946,412 (GRCm39) |
|
probably benign |
Het |
| Parvb |
C |
T |
15: 84,182,180 (GRCm39) |
R237W |
probably damaging |
Het |
| Pex11a |
A |
G |
7: 79,387,230 (GRCm39) |
F201L |
probably benign |
Het |
| Pigu |
A |
G |
2: 155,143,206 (GRCm39) |
Y232H |
possibly damaging |
Het |
| Pms2 |
T |
C |
5: 143,860,307 (GRCm39) |
I40T |
probably damaging |
Het |
| Pura |
A |
G |
18: 36,420,696 (GRCm39) |
N161S |
probably damaging |
Het |
| Slc30a9 |
T |
C |
5: 67,490,443 (GRCm39) |
V218A |
probably damaging |
Het |
| Spindoc |
C |
T |
19: 7,335,781 (GRCm39) |
V336I |
probably damaging |
Het |
| Tmprss9 |
A |
G |
10: 80,726,198 (GRCm39) |
T483A |
probably benign |
Het |
|
| Other mutations in Ranbp10 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02015:Ranbp10
|
APN |
8 |
106,506,622 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02119:Ranbp10
|
APN |
8 |
106,553,635 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02120:Ranbp10
|
APN |
8 |
106,532,214 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1532:Ranbp10
|
UTSW |
8 |
106,500,963 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1743:Ranbp10
|
UTSW |
8 |
106,506,610 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1970:Ranbp10
|
UTSW |
8 |
106,513,340 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3084:Ranbp10
|
UTSW |
8 |
106,501,263 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3605:Ranbp10
|
UTSW |
8 |
106,502,667 (GRCm39) |
missense |
probably benign |
0.40 |
|
R3606:Ranbp10
|
UTSW |
8 |
106,502,667 (GRCm39) |
missense |
probably benign |
0.40 |
|
R3607:Ranbp10
|
UTSW |
8 |
106,502,667 (GRCm39) |
missense |
probably benign |
0.40 |
|
R4815:Ranbp10
|
UTSW |
8 |
106,552,757 (GRCm39) |
nonsense |
probably null |
|
|
R5996:Ranbp10
|
UTSW |
8 |
106,499,672 (GRCm39) |
missense |
probably benign |
0.04 |
|
R6178:Ranbp10
|
UTSW |
8 |
106,498,296 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R6528:Ranbp10
|
UTSW |
8 |
106,506,588 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7082:Ranbp10
|
UTSW |
8 |
106,500,578 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7732:Ranbp10
|
UTSW |
8 |
106,499,723 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8073:Ranbp10
|
UTSW |
8 |
106,513,261 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8103:Ranbp10
|
UTSW |
8 |
106,499,179 (GRCm39) |
missense |
probably benign |
0.20 |
|
R8796:Ranbp10
|
UTSW |
8 |
106,499,665 (GRCm39) |
splice site |
probably benign |
|
|
R9152:Ranbp10
|
UTSW |
8 |
106,499,140 (GRCm39) |
missense |
probably benign |
0.12 |
|
R9789:Ranbp10
|
UTSW |
8 |
106,513,306 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACTGTCGACACCTGTGAAGG -3'
(R):5'- TAAACTAGCCTCTGCCATGGTC -3'
Sequencing Primer
(F):5'- CGACACCTGTGAAGGGAGCAG -3'
(R):5'- AGCCTCTGCCATGGTCCTAAAC -3'
|
| Posted On |
2018-08-01 |
Incidental Mutation