Incidental Mutation 'IGL02015:Ranbp10'
| ID |
183703 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Ranbp10
|
| Ensembl Gene |
ENSMUSG00000037415 |
| Gene Name |
RAN binding protein 10 |
| Synonyms |
4432417N03Rik |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL02015
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
8 |
| Chromosomal Location |
106494940-106553982 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 106506622 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glycine to Cysteine
at position 233
(G233C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000040045
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000041400]
|
| AlphaFold |
Q6VN19 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000041400
AA Change: G233C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000040045
Gene: ENSMUSG00000037415
AA Change: G233C
| 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 |
|
| 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: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Bcl9l |
C |
A |
9: 44,420,098 (GRCm39) |
|
probably null |
Het |
| C1qtnf12 |
A |
G |
4: 156,047,201 (GRCm39) |
|
probably benign |
Het |
| Csgalnact1 |
C |
A |
8: 68,854,144 (GRCm39) |
G219V |
probably damaging |
Het |
| D430041D05Rik |
A |
G |
2: 104,060,749 (GRCm39) |
Y1382H |
probably damaging |
Het |
| Fut1 |
A |
T |
7: 45,268,399 (GRCm39) |
M118L |
probably damaging |
Het |
| Fzd5 |
A |
T |
1: 64,775,501 (GRCm39) |
C87S |
probably damaging |
Het |
| Gmcl1 |
A |
G |
6: 86,684,439 (GRCm39) |
V361A |
possibly damaging |
Het |
| Inpp4a |
T |
G |
1: 37,428,793 (GRCm39) |
F700V |
probably damaging |
Het |
| Klk1b21 |
A |
T |
7: 43,753,782 (GRCm39) |
Q22L |
probably benign |
Het |
| Lrp2 |
T |
A |
2: 69,357,922 (GRCm39) |
Q369L |
probably benign |
Het |
| Mtor |
C |
T |
4: 148,624,570 (GRCm39) |
Q2117* |
probably null |
Het |
| Naip2 |
A |
T |
13: 100,298,115 (GRCm39) |
S640R |
possibly damaging |
Het |
| Nt5e |
T |
C |
9: 88,249,290 (GRCm39) |
I408T |
probably damaging |
Het |
| Or10ab5 |
T |
A |
7: 108,245,220 (GRCm39) |
N188Y |
probably damaging |
Het |
| Or51h5 |
G |
A |
7: 102,577,399 (GRCm39) |
R188H |
probably benign |
Het |
| Or8d2 |
T |
C |
9: 38,760,090 (GRCm39) |
S227P |
probably damaging |
Het |
| Plxna1 |
A |
G |
6: 89,319,433 (GRCm39) |
L590P |
probably damaging |
Het |
| Ppp1r35 |
T |
C |
5: 137,778,293 (GRCm39) |
|
probably benign |
Het |
| Prmt2 |
G |
A |
10: 76,062,089 (GRCm39) |
Q39* |
probably null |
Het |
| Ptprg |
A |
T |
14: 12,237,782 (GRCm38) |
N1413I |
possibly damaging |
Het |
| Rapgef2 |
A |
G |
3: 78,999,371 (GRCm39) |
|
probably benign |
Het |
| Rilpl2 |
T |
C |
5: 124,607,876 (GRCm39) |
T115A |
probably benign |
Het |
| Scaf4 |
T |
C |
16: 90,055,734 (GRCm39) |
S108G |
unknown |
Het |
| Scn10a |
C |
T |
9: 119,494,017 (GRCm39) |
V430M |
probably benign |
Het |
| Sf3b3 |
T |
C |
8: 111,542,922 (GRCm39) |
E845G |
possibly damaging |
Het |
| Skint2 |
C |
T |
4: 112,481,325 (GRCm39) |
R63* |
probably null |
Het |
| Slc35b4 |
A |
T |
6: 34,147,483 (GRCm39) |
V35D |
probably damaging |
Het |
| Slc6a3 |
A |
T |
13: 73,692,833 (GRCm39) |
Y151F |
possibly damaging |
Het |
| Susd1 |
G |
A |
4: 59,315,745 (GRCm39) |
T689I |
possibly damaging |
Het |
| Tbx21 |
T |
C |
11: 96,989,740 (GRCm39) |
D484G |
probably benign |
Het |
| Tln2 |
C |
T |
9: 67,268,721 (GRCm39) |
|
probably benign |
Het |
| Traf3 |
A |
G |
12: 111,219,174 (GRCm39) |
N242S |
probably benign |
Het |
| Tut7 |
A |
G |
13: 59,937,072 (GRCm39) |
Y790H |
probably damaging |
Het |
| Xiap |
T |
A |
X: 41,185,487 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Ranbp10 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
R6718:Ranbp10
|
UTSW |
8 |
106,501,260 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
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 |
|
| Posted On |
2014-05-07 |
Incidental Mutation