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 |